Gene: Chrna7 MGI:99779

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Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 Images

Immunophenotyping

Panel B FCS file(s)

8 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
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Musk, Inability To Smell
Anosmia OMIM:254150
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Depressed nasal bridge OMIM:616911
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Pulmonary infiltrates OMIM:235900
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Impaired... OMIM:605258
Epilepsy, Nocturnal Frontal Lobe, 5
Personality disorder, Aggressive behavior, Depression, Focal-onset seizure, Status epilepticus, C... OMIM:615005
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Respiratory tract infection, De... OMIM:615897
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Babinski... OMIM:300660
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Aural Atresia, Congenital
Hyposmia OMIM:607842
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Respiratory tract infection OMIM:615592
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Reduced isohemagglutinin level, Pharyngalgia, Decreased circula... OMIM:614699
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent sinusitis, Reduced isohemagglutinin level, Decreased c... OMIM:613493
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections OMIM:615214
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections OMIM:613495
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Autosomal Recessive Spastic Paraplegia Type 71
Hypoplasia of the corpus callosum, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremo... ORPHA:401840
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections OMIM:609529
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia OMIM:615267
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Azoospermia, Hypergonadotropic hypogonadism, Abnormal motor n... OMIM:613724
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Leukoencephalopathy, Babinski sign, Spasticity OMIM:611105
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Hypoalbuminem... OMIM:616000
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Dermoid Cysts, Familial Frontonasal
Nasal congestion, Anosmia, Deviated nasal septum, Wide nasal bridge OMIM:600679
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Recurrent ... OMIM:617765
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Gordon Holmes Syndrome
Infertility, Dementia, Oligomenorrhea, Cerebral atrophy, Hypogonadotropic hypogonadism OMIM:212840
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia,... OMIM:615889
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137100
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent respiratory infections OMIM:617744
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Small pituitary gland, Primary amenorrhea, Hyposmia, Hypogonadotropic hypogonadism OMIM:612702
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Dystonia 16
Postural tremor, Dysphagia, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Pa... ORPHA:210571
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... OMIM:607317
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Dysphagia, Hypertonia, Myoclonus, Cerebral calcification, Microcephaly, Choreoa... OMIM:261630
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Anosmia, Depressed nasal bridge OMIM:113480
Hemochromatosis, Type 3
Amenorrhea, Lymphopenia, Impotence, Neutropenia, Anemia, Hypogonadotropic hypogonadism OMIM:604250
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Parkinsonism, B... OMIM:617013
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait... ORPHA:401820
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating IgE level, Recurrent upper respiratory tract infections, Increased circulat... OMIM:618944
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Pa... ORPHA:521406
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Abnormal caudate nucleus morphology, Parkinsonism with favorab... ORPHA:314632
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Personality disorder, Depression, Panic attack, Myoclonus, Anxiety, Limb myoclonus ORPHA:36899
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, Tremor, Ataxia, Spasticity OMIM:616494
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Myoclonus, Hyp... OMIM:615924
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Dysphagia, Oromandibular d... ORPHA:216873
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Pneumonia, Agammaglobulinemia, Decreased circulating IgA level, Recurr... OMIM:300400
Geniospasm 1
Chin myoclonus, Anxiety OMIM:190100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Pneumonia, Anteverted nares, Chronic bronchitis... OMIM:614069
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 48
Panhypogammaglobulinemia, Pneumonia OMIM:269840
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Anosmia, Primary amenorrhea, Hypogonadotropic hypogonadism, Gonadotropin deficiency OMIM:614837
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hypera... OMIM:618090
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Anosmia, Primary amenorrhea OMIM:616030
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Anxiety, Myoclonus, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Seizure, Social and occupational deterioration, Motor... ORPHA:168782
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Anosmia, Microcephaly, Hypogonadism, Short nasal septum, Depressed nasal bridge OMIM:302950
Epilepsy, Progressive Myoclonic, 12
Depression, Bilateral tonic-clonic seizure, Anxiety, Myoclonus, Mental deterioration OMIM:619191
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614838
Glutathionuria
Tremor OMIM:231950
Huntington Disease
Mental deterioration, Abnormal cerebral white matter morphology, Cerebral atrophy, Abnormal libid... ORPHA:399
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Stereotypy, Progres... OMIM:617862
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Cerebral calcification, Microcephaly, Rigidity OMIM:615010
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Recurrent respirat... OMIM:618042
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bradykinesia, Act... OMIM:300423
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, Inappropriate b... ORPHA:412066
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign, Diffuse c... OMIM:615362
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Dysphagia, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonus,... OMIM:617435
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased circulating IgG level, Pneumonia, Sinusitis OMIM:312863
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Landau-Kleffner Syndrome
Generalized clonic seizure, Aggressive behavior, Depression, Non-convulsive status epilepticus wi... ORPHA:98818
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Pneumonia OMIM:247800
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis, Pneumonia, Impaired T cell function, D... OMIM:607594
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Agammaglobulinemia, Recurrent pneumonia, Recurrent respi... OMIM:612692
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Corpus callosum atrophy, Dementia, Abnormal sperm head morph... ORPHA:320391
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia, Primary amenorrhea, Hypogonadotropic hypogonadism, Agenesis of corpus c... OMIM:147950
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, D... ORPHA:240103
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Dysphagia, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Microcepha... OMIM:261640
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia OMIM:608720
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Dystonia, Bradykinesia, Frontotemporal cerebral atrophy, Parkinsonis... OMIM:612953
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Agenesis of corpus callosum OMIM:610245
Immunodeficiency 60
Bronchiectasis, Pulmonary infiltrates, Decreased circulating IgE, Pulmonary fibrosis, Recurrent s... OMIM:618394
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Myopathy, Spheroid Body
Dysphagia, Tremor, Waddling gait, Broad-based gait OMIM:182920
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea OMIM:610628
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgM level, Increased circulating IgE level, Decreased ... OMIM:610163
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor OMIM:615048
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent sinusitis OMIM:618449
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Hypoplasia of the ovary, Primary... OMIM:618841
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Dysphagia, Progress... OMIM:607346
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dystonia, Chorea, Dysphagia, Blepharospasm, Ataxia, Bradykinesia, Writer... OMIM:606159
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Cerebral atrophy, Ataxia OMIM:618637
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Dystonia 16
Postural tremor, Dysphagia, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dy... OMIM:612067
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Gorlin Syndrome
Wide nasal bridge, Cerebral calcification, Hypogonadotropic hypogonadism, Abnormality of the sens... ORPHA:377
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Tip-toe ... ORPHA:397946
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dystonia, Hypoplasia of ... OMIM:618877
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Dysphagia, Gait disturbance, Fasciculations, Tongue fasciculations ORPHA:276435
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Dysphagia, Gait disturbance, Ataxia, Frontotemporal cerebr... ORPHA:391417
Immunodeficiency 14B, Autosomal Recessive
Recurrent sinusitis, Decreased circulating IgA level, Recurrent pneumonia, Decreased circulating ... OMIM:619281
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism, Cerebral cortical ... ORPHA:306669
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Immunodeficiency 55
Neutropenia OMIM:617827
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Dysphagia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Parkins... ORPHA:71517
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Hyperactivity, Spas... OMIM:300983
Immunodeficiency 70
Decreased circulating antibody level, Recurrent sinusitis, Decreased circulating total IgG, Decre... OMIM:618969
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Dysphagia, Poor fine motor coordination, Cerebral atrophy, ... ORPHA:79263
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Anteverted nares, Decreased circulating IgA level ORPHA:1951
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Dysphagia, Progressive cerebellar a... OMIM:164500
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Neuroferritinopathy
Dystonia, T2 hypointense thalamus, Palatal myoclonus, Chorea, Resting tremor, Writer's cramp, Iro... ORPHA:157846
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Pulmonary Fibrosis, Idiopathic
Pulmonary fibrosis, Alveolar cell carcinoma, Increased circulating antibody level, Elevated bronc... OMIM:178500
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea OMIM:244200
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Microcephaly, Choreoathetosis, Spast... OMIM:612716
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Dysphagia, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Bronchiectasis, Decreased circulating IgG2 level, Recurrent sino... OMIM:615513
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Myeloma, Multiple
Paraproteinemia OMIM:254500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Leukoencephalopathy, Steppage gait OMIM:618387
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Bronchiolitis, Decreased circulating IgA level, Interstitial pne... OMIM:614878
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Midline brain calcifications, Bradykinesia, Weakness ... ORPHA:97355
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Aregenerative Anemia
Erythroid hypoplasia, Fatigable weakness of skeletal muscles, Decreased proportion of CD4-positiv... ORPHA:101096
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level, Bronchiectasis OMIM:618982
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torsion dystonia, Dysphagia, Blepharospasm, Torticollis OMIM:224500
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Recurrent ... OMIM:193670
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Abnormal cerebral white matter morphology OMIM:618951
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent lower respiratory tract infections, Increased circulating IgM level, Increased circulat... OMIM:619220
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Tremor, Ataxia, Spasticity OMIM:278780
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cor... ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Fatiguable weakness of proximal limb muscles, Dysphagia, Limb fascicul... ORPHA:90117
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Gabriele-De Vries Syndrome
Tremor, Waddling gait, Abnormal cerebral white matter morphology, Dystonia OMIM:617557
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal periventricular white matter morphology, Abnormal pyram... OMIM:617225
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Oral-pharyngeal dysphagia, Tongue fasciculations, Myoclonus, Fascicul... OMIM:159950
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Iron accumulation in subst... ORPHA:329284
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Dysphagia, Eyelid myoclonus, Waddling ... ORPHA:2590
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Abnormal ... OMIM:302800
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Dystonia, Lethargy, Rigidity, Dysphagia, Hyperkinetic movements, Limb hypertonia, Choreoa... OMIM:233910
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medica... OMIM:606693
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Anosmia, Olfactory lobe agenesis, Hypothalamic gonadotropin-releasing hormone defici... OMIM:308700
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Focal T2 hyp... ORPHA:139485
Barth Syndrome
Granulocytopenia, Neutropenia OMIM:302060
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Di... OMIM:619279
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Choreoacanthocytosis
Disinhibition, Aggressive behavior, Dementia, Self-mutilation of tongue and lips due to involunta... OMIM:200150
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Bronchiectasis, Increased circul... OMIM:618534
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Dysphagia, Gait disturbance, Abnormal globus pallidus... ORPHA:289560
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Abnormal cerebral white matter morphology, Myoclonus OMIM:618587
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Dystonia, Cerebral atro... OMIM:615157
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Neutropenia, Anemia, Splenomegaly ORPHA:79312
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Dysphagia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of the ovary, Primary amenorrhea OMIM:614841
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Dysphagia, Ataxia, Tongue fascicula... ORPHA:276198
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:251190
Young-Onset Parkinson Disease
Dementia, Female sexual dysfunction, Hyposmia, Male sexual dysfunction, Cognitive impairment, Fro... ORPHA:2828
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Immotile sperm, Recurrent sinusitis, Chronic rhinitis, Male infertility OMIM:617091
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Microcephaly, Choreoathetosis, Spasticity OMIM:612438
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Cogwheel rigidity, Gait ataxia, Dystonia, Lethargy, Chorea, Hypertonia, Abnorm... OMIM:607483
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Pituitary hypothyroidism, Hypopituit... ORPHA:251623
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Hydrolethalus
Agenesis of corpus callosum, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Abnormality ... ORPHA:2189
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Dysphagia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait, ... OMIM:616795
Progressive Supranuclear Palsy
Tremor, Dystonia, Dysphagia, Blepharospasm, Bradykinesia, Cerebral cortical atrophy, Unsteady gai... ORPHA:683
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Myoclonus, Limb d... ORPHA:420485
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Choanal atresia, ... OMIM:147250
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Hypoplasia of the corpus callosum, Babinski sign,... ORPHA:477673
Kallmann Syndrome
Erectile dysfunction, Anosmia, Primary amenorrhea, Dyspareunia, Hypothalamic gonadotropin-releasi... ORPHA:478
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Parkinson Disease 21
Tremor, Lewy bodies, Bradykinesia, Parkinsonism, Rigidity OMIM:616361
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Choanal atresia, Microcephaly, Hypogonadism ORPHA:2316
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity OMIM:606438
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Substantia nigra gliosis, Lewy bodies, Dementia OMIM:607060
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Olfactory lobe agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Testicu... OMIM:308750
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia, Short nose, Depressed nasal bridge OMIM:616910
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Cystic Fibrosis
Decreased circulating antibody level, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:586
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Spastic Paraplegia 9B, Autosomal Recessive