Gene: Dnajc11 MGI:2443386

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

DnaJ heat shock protein family (Hsp40) member C11

Synonyms:

E030019A03Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dnajc11 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.

Human diseases associated with Dnajc11 (0 diseases)
Human diseases predicted to be associated with Dnajc11 (842 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dnajc11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Failure to thrive, Generalized hypotonia, Microcytic anemia, Sideroblastic an...	OMIM:600462
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ...	OMIM:617241
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Muscle weakness	ORPHA:139436
Triosephosphate Isomerase Deficiency	Normocytic anemia, Spasticity, Cholelithiasis, Failure to thrive, Generalized hypotonia, Hypotoni...	OMIM:615512
Peroxisome Biogenesis Disorder 11B	Hypotonia, Hepatosplenomegaly, Progressive muscle weakness, Muscle weakness	OMIM:614885
Juvenile Primary Lateral Sclerosis	Spasticity, Abnormal upper motor neuron morphology, Gait imbalance, Abnormal pyramidal sign, Spas...	ORPHA:247604
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Difficulty walking, Axial dystonia, Proximal muscle weakness, Opis...	ORPHA:300605
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Proximal muscle weakness, Spastici...	OMIM:205100
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Generalized hypotonia, Slender build, Hypotonia, Decreased activity of mitochondrial complex IV, ...	OMIM:613662
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Oculopharyngodistal Myopathy	Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Voc...	ORPHA:98897
Immunodeficiency 9	Failure to thrive, Difficulty walking, Lymphopenia, Hypotonia, Proximal muscle weakness, Hypoplas...	OMIM:612782
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Fasciculations, Postural tremor, Proximal muscle weakness, Loss of...	OMIM:608627
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno...	ORPHA:95434
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Generalized muscle weakness, Los...	OMIM:620285
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ...	OMIM:208900
Combined Oxidative Phosphorylation Deficiency 49	Difficulty walking, Decreased activity of mitochondrial complex IV, Progressive muscle weakness, ...	OMIM:619024
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti...	OMIM:611637
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Hypotonia, Myoclonus, Tremor, Loss of ambulation, Progressive muscle weakness, Righ...	OMIM:607426
Myopathy And Diabetes Mellitus	Type I diabetes mellitus, Weakness of orbicularis oculi muscle, Tip-toe gait, Shoulder girdle mus...	ORPHA:2596
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Ankle weakness, Foot dorsiflexor weakness, Generalized m...	ORPHA:98912
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Dystonia	OMIM:618093
Episodic Ataxia With Slurred Speech	Tremor, Gait ataxia, Muscle weakness, Slurred speech	ORPHA:401953
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Arts Syndrome	Neonatal hypotonia, Spinal cord posterior columns myelin loss, Progressive muscle weakness, Tetra...	OMIM:301835
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Splenomegaly, Tremor, Rigidity, Loss of ambulation, Thrombocytop...	OMIM:615010
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Babinski sign, Ataxia, Muscle weakness	OMIM:611105
Riboflavin Transporter Deficiency	Diabetes insipidus, Hypogonadism, Hypotonia, Limb muscle weakness, Myoclonus, Tremor, Bulbar pals...	ORPHA:97229
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	External ophthalmoplegia, Failure to thrive, Generalized hypotonia, Hypotonia, Gait ataxia, Decre...	OMIM:612075
Frontotemporal Dementia With Motor Neuron Disease	Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormal mitochondrial morp...	ORPHA:275872
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Dystonia 31	Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof...	OMIM:619565
Primary Lateral Sclerosis, Juvenile	Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Appendicular spasticity, Spastici...	OMIM:606353
Infantile Refsum Disease	Spasticity, Failure to thrive, Hypotonia, Hepatomegaly, Progressive muscle weakness, Ataxia, Shor...	ORPHA:772
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Difficulty walking, Distal lower limb muscle weakness, P...	ORPHA:399096
Laing Early-Onset Distal Myopathy	Proximal muscle weakness in lower limbs, Weakness of orbicularis oculi muscle, Neck muscle weakne...	ORPHA:59135
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Lower limb muscle weakness, Difficulty walking, Inability to walk, Myoclonus, Tre...	ORPHA:2590
Desminopathy	Difficulty walking, Axial muscle weakness, Distal lower limb muscle weakness, Loss of ambulation,...	ORPHA:98909
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Shoulder girdle muscle weakness, Tetraparesis, Limb muscle weakness, Proximal muscle weakness, Dy...	OMIM:167320
Mantle Cell Lymphoma	Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Generalized hypotonia, Difficulty walking, Inability to w...	OMIM:611890
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Postnatal growth retardation, Hypotonia, Splenomegaly, Polycystic ovaries, Incr...	ORPHA:79240
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Distal muscle weakness, Vocal cord paralysis, Lower limb ...	OMIM:607641
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay	OMIM:619164
Marinesco-Sjogren Syndrome	Spasticity, Failure to thrive, Hypotonia, Limb ataxia, Gait ataxia, Progressive muscle weakness, ...	OMIM:248800
Mirage Syndrome	Lymphopenia, Paraplegia, Decreased testicular size, Leukopenia, Cryptorchidism, Adrenal insuffici...	OMIM:617053
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Spasticity, Low...	OMIM:613954
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Amish Nemaline Myopathy	Progressive muscle weakness, Neonatal hypotonia, Tremor, Respiratory insufficiency due to muscle ...	ORPHA:98902
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Ophthalmoparesis, Generalized hypotonia, Difficulty walking, Failure to thrive in infancy, Hypoto...	ORPHA:254875
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Growth delay, Failure to thrive, Cholestasis, Hypotonia, Splen...	ORPHA:264580
Wolman Disease	Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-...	ORPHA:75233
Alpha-B Crystallin-Related Late-Onset Myopathy	Difficulty walking, Neck muscle weakness, Progressive distal muscle weakness, Facial diplegia, Fo...	ORPHA:399058
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ...	ORPHA:309169
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Hypotonia, Appendicular hypotonia, Axial hypotonia, Proximal muscle wea...	OMIM:620166
Multifocal Motor Neuropathy	Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Fasciculat...	ORPHA:641
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Lower limb muscle weakness, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski ...	OMIM:607317
Mitochondrial Neurogastrointestinal Encephalomyopathy	External ophthalmoplegia, Ophthalmoparesis, Abnormality of the mitochondrion, Foot dorsiflexor we...	ORPHA:298
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Hand tremor, Total ophthalmoplegia, Limb muscle weakness, Gait ataxia, Rigidity, ...	OMIM:157640
Glut1 Deficiency Syndrome 2	Reticulocytosis, Tremor, Splenomegaly, Ataxia, Dystonia, Hemolytic anemia, Choreoathetosis	OMIM:612126
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, ...	OMIM:616719
Combined Oxidative Phosphorylation Deficiency 45	Failure to thrive, Decreased activity of mitochondrial complex IV, Tremor, Axial hypotonia, Decre...	OMIM:618951
Alexander Disease Type I	Spasticity, Failure to thrive, Generalized hypotonia, Hypotonia, Cachexia, Abnormal pyramidal sig...	ORPHA:363717
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor, Proximal muscle weakness, Loss of ambulation, Distal muscle weakness	OMIM:182980
Barth Syndrome	Abnormality of neutrophils, Abnormal mitochondrial morphology	ORPHA:111
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia	ORPHA:100024
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp...	OMIM:618987
Stormorken Syndrome	Howell-Jolly bodies, Proximal muscle weakness, Short stature, Thrombocytopenia, Anemia, Asplenia,...	OMIM:185070
Congenital Myopathy 10B, Mild Variant	Difficulty walking, Neck muscle weakness, Hypotonia, Limb muscle weakness, Proximal muscle weakne...	OMIM:620249
Immunoneurologic Disorder, X-Linked	Spastic paraplegia, Progressive proximal muscle weakness, Small for gestational age, Neonatal hyp...	OMIM:300076
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Abnormality of mitochondrial met...	ORPHA:33355
Ataxia-Telangiectasia	Spasticity, Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Type II diabetes me...	ORPHA:100
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Axial muscle weakness, Progressive external ophthalmoplegia, Hypothyroidism, Respiratory insuffic...	ORPHA:663
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Hypoplastic spleen, Abnormal muscle tone	ORPHA:89844
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen...	OMIM:619924
Congenital Muscular Dystrophy Due To Lmna Mutation	Hypotonia, Axial muscle weakness, Cachexia, Gait disturbance, Poor head control	ORPHA:157973
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay	ORPHA:169079
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Folate Malabsorption, Hereditary	Failure to thrive, Generalized hypotonia, Leukopenia, Folate-responsive megaloblastic anemia, Hyp...	OMIM:229050
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia, Abnormal mesentery m...	ORPHA:93941
Immunodeficiency 48	Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:269840
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypotonia, Proximal muscle weakness, Peroneal muscle weakness, Progressive muscle weakness, Gower...	OMIM:611588
Combined Oxidative Phosphorylation Deficiency 18	Hypersegmentation of neutrophil nuclei, Increased mitochondrial number, Intrauterine growth retar...	OMIM:615578
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Hypogonadism, Abnormality of the thyroid gland, Limb muscle weakness, Proximal muscle weakness, P...	OMIM:609286
Galactose Epimerase Deficiency	Hypotonia, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay	ORPHA:79238
Majeed Syndrome	Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem...	ORPHA:77297
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum mo...	ORPHA:83469
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Loss of ambulation, Progressive muscle weakness, Short stature, Mitochondrial ...	OMIM:619518
Distal Nebulin Myopathy	Slender build, Progressive distal muscle weakness, Foot dorsiflexor weakness, Progressive proxima...	ORPHA:399103
Spinocerebellar Ataxia Type 38	Difficulty walking, Distal muscle weakness, Gait ataxia, Tremor	ORPHA:423296
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Progressive muscle weakness, Tremor	OMIM:605355
Finnish Upper Limb-Onset Distal Myopathy	Difficulty walking, Progressive distal muscle weakness, Clumsiness, Steppage gait, Progressive pr...	ORPHA:399086
Amyotrophic Lateral Sclerosis	Spasticity, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Amyotrophic l...	ORPHA:803
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Difficulty walking, Proximal muscle weakness, Abnormal lower motor neuron morphology, Respiratory...	OMIM:611067
Amyotrophic Lateral Sclerosis 5, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology...	OMIM:602099
Mulibrey Nanism	Short stature, Hepatomegaly, Intrauterine growth retardation, Cachexia	ORPHA:2576
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Spasticity, Generalized hypotonia, Inability to walk, Failure to thrive in infancy, Intrauterine ...	OMIM:616801
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Cholestasis, Decreased activity of mitochondrial complex IV, Hepatic steatosis,...	OMIM:256810
Distal Myotilinopathy	Difficulty walking, Progressive proximal muscle weakness, Progressive distal muscle weakness, Los...	ORPHA:98911
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Pappenheimer bodies, Cryptorchidism, Ophthalmoplegia, Weight loss, Clonus, ...	OMIM:301310
Autosomal Recessive Centronuclear Myopathy	Ophthalmoparesis, Generalized hypotonia, Facial diplegia, Ophthalmoplegia, Progressive muscle wea...	ORPHA:169186
Christianson Syndrome	Gait ataxia, Ophthalmoplegia, Cachexia, Truncal ataxia, Dystonia	ORPHA:85278
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Weakness of muscles of respiration, Amyotrophic lateral sclerosis, Fasciculations, Hepatic steato...	ORPHA:52430
Myopathy With Extrapyramidal Signs	Growth delay, Difficulty walking, Chorea, Hypotonia, Leukocytosis, Splenomegaly, Tremor, Proximal...	OMIM:615673
Dk1-Cdg	Failure to thrive, Severe muscular hypotonia, Progressive muscle weakness, Infantile muscular hyp...	ORPHA:91131
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Abnormality of mitochondrial metabolism, Cryptorchidism, Tremor, Gait d...	ORPHA:1192
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ...	ORPHA:277
Whipple Disease	Myoclonus, Splenomegaly, Hepatomegaly, Cachexia, Abnormal pyramidal sign, Hypothyroidism, Ataxia,...	ORPHA:3452
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology	OMIM:613501
Huntington Disease-Like 2	Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Weight loss, Dystonia	ORPHA:98934
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Huntington Disease-Like 1	Involuntary movements, Abnormal posturing, Generalized hypotonia, Incoordination, Chorea, Gait at...	ORPHA:157941
Aids Wasting Syndrome	Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration	ORPHA:90081
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Distal Myopathy With Anterior Tibial Onset	Limb-girdle muscle weakness, Progressive proximal muscle weakness, Tibialis muscle weakness	ORPHA:178400
Myopathy, Scapulohumeroperoneal	Foot dorsiflexor weakness, Progressive muscle weakness, Facial palsy, Wrist drop, Neck flexor wea...	OMIM:616852
Aredyld Syndrome	Type I diabetes mellitus, Intrauterine growth retardation, Type II diabetes mellitus, Splenomegal...	ORPHA:1133
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Generalized muscle weakness, Distal lower limb muscle weakness, Bilateral facial palsy, Loss of a...	ORPHA:254361
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Generalized hypotonia, Intrauterine growth retardation, Abnormality of the mit...	OMIM:214110
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Duchenne Muscular Dystrophy	Waddling gait, Progressive muscle weakness, Proximal muscle weakness	ORPHA:98896
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Cachexia, Splenomegaly	ORPHA:2930
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Interfac...	OMIM:243150
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Ery...	OMIM:612541
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypotonia, Fatigable weakness, Hepatic steatosis, Fatigable weakness of neck muscles, Proximal mu...	ORPHA:42
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower...	ORPHA:251282
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Pelizaeus-Merzbacher Disease	Spasticity, Failure to thrive in infancy, Hypotonia, Cachexia, Gait disturbance, Ataxia, Short st...	ORPHA:702
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc...	ORPHA:457050
Myopathy, Myofibrillar, 4	Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak...	OMIM:609452
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Myoclonus, Tremor, Poor head control, Dystonia, Axial hypotonia	OMIM:619651
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia, Hoffmann...	OMIM:601162
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ...	OMIM:602450
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Abnormal posturing, Generalized dystonia, Generalized hypotonia, Inability to walk...	OMIM:128100
Spinocerebellar Ataxia, Autosomal Recessive 16	External ophthalmoplegia, Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski s...	OMIM:615768
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Failure to thrive, Hypotonia, Cryptorchidism, Thrombocytopenia, Neutropenia, ...	OMIM:614857
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegaly, Increased proporti...	OMIM:619824
Niemann-Pick Disease, Type C1	Spasticity, Neurofibrillary tangles, Cataplexy, Sea-blue histiocytosis, Generalized hypotonia, Hy...	OMIM:257220
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Thrombocytosis, Ane...	OMIM:209950
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Ophthalmoplegia, Neutropenia, Atax...	ORPHA:699
O'Sullivan-Mcleod Syndrome	Upper limb muscle weakness, Cold paresis, Fasciculations, Tremor, Eosinophilia, Atrophy of the sp...	ORPHA:99965
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Dna2-Related Mitochondrial Dna Deletion Syndrome	Generalized hypotonia, Difficulty walking, Slender build, Decreased mitochondrial number, Progres...	ORPHA:352470
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Tongue fasciculations, Hypothyroidism, B lymphocytopenia	OMIM:619851
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Spasticity, Limb muscle weakness, Foot dorsiflexor weakness, Tremor, Babinski sign, Steppage gait...	OMIM:609260
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia, Distal muscle weakness	OMIM:615957
X-Linked Charcot-Marie-Tooth Disease Type 3	Proximal muscle weakness in lower limbs, Spastic paraparesis, Difficulty walking, Inability to wa...	ORPHA:101077
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Bulbar palsy, Parkinsonism...	OMIM:105500
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ...	OMIM:616053
Gracile Bone Dysplasia	Short stature, Asplenia, Hypoplastic spleen, Failure to thrive	OMIM:602361
Moynahan Syndrome	Hypogonadism, Cachexia, Short stature	ORPHA:2574
Infantile Krabbe Disease	Spasticity, Failure to thrive, Shoulder girdle muscle weakness, Infantile axial hypotonia, Neck m...	ORPHA:206436
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Adrenal insuf...	OMIM:609981
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Hypotonia, Cachexia	ORPHA:1216
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Subacute Inflammatory Demyelinating Polyneuropathy	Difficulty walking, Leukocytosis, Tremor, Steppage gait, Gait disturbance, Distal muscle weakness...	ORPHA:206594
Boucher-Neuhauser Syndrome	Spasticity, Decreased circulating gonadotropin concentration, Abnormal upper motor neuron morphol...	OMIM:215470
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
X-Linked Creatine Transporter Deficiency	Chorea, Hypotonia, Cachexia, Hypertonia, Ataxia, Short stature, Dystonia, Athetosis	ORPHA:52503
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston...	OMIM:617284
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus, Axial hypot...	OMIM:616921
Mcdonough Syndrome	Short stature, Cachexia, Cryptorchidism	ORPHA:2471
Rhabdoid Tumor	Cerebral palsy, Oculomotor nerve palsy, Hemiplegia, Neoplasm of the liver, Weight loss, Lymphaden...	ORPHA:69077
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure...	OMIM:618534
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Japanese Encephalitis	Distal upper limb muscle weakness, Pill-rolling tremor, Muscle flaccidity, Cogwheel rigidity, Myo...	ORPHA:79139
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul...	ORPHA:276435
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus, Axial hypotonia	ORPHA:494526
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Proximal muscle weakness, Respirato...	OMIM:159950
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthoton...	ORPHA:216866
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, B lymp...	OMIM:601457
Sialidosis Type 2	Generalized hypotonia, Splenomegaly, Tremor, Hepatomegaly, Ataxia, Short stature, Muscle weakness	ORPHA:87876
Immunodeficiency 115 With Autoinflammation	Lower limb muscle weakness, Intestinal lymphangiectasia, Postnatal growth retardation, Splenomega...	OMIM:620632
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Difficulty walking, Tremor, Vocal cord paralysis, Distal muscle weakness	OMIM:158580
Neutral Lipid Storage Disease With Ichthyosis	Micronodular cirrhosis, Shoulder girdle muscle weakness, Difficulty walking, Hepatic steatosis, H...	ORPHA:98907
Machado-Joseph Disease Type 3	Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Pro...	ORPHA:276244
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Primary Lateral Sclerosis	Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology...	ORPHA:35689
Leishmaniasis	Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hepatomegaly, Weight loss...	ORPHA:507
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Postnatal growth retardation, Hypotonia, Splenomegaly, Hepatomegaly, Sho...	OMIM:620210
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepat...	ORPHA:397596
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:86893
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Failure to thrive, Generalized hypotonia, Abnormality of the liver, Hypotonia, Limb muscle weakne...	OMIM:610131
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Muscle weakness, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphol...	OMIM:105550
Myopathy With Lactic Acidosis, Hereditary	Ophthalmoparesis, Difficulty walking, Sideroblastic anemia, Leukopenia, Hypotonia, Decreased acti...	OMIM:255125
Juvenile Huntington Disease	Broad-based gait, Oral motor hypotonia, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Weigh...	ORPHA:248111
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Short stature	ORPHA:3204
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Immunodeficiency 36 With Lymphoproliferation	Growth delay, Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of tran...	OMIM:616005
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Intrauterine growth retardation, Dysmetria, Tremor, Axial hypotonia, Limb hypertonia, Hypertonia,...	OMIM:617710
Wilson Disease	Proximal muscle weakness in lower limbs, Hepatitis, Failure to thrive, Difficulty walking, Acute ...	ORPHA:905
Diencephalic Syndrome	Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight	ORPHA:1672
Spastic Paralysis, Infantile-Onset Ascending	Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Spastic t...	OMIM:607225
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology, Bulbar pal...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology, Bulbar pal...	OMIM:616437
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, External ophthalmoplegia, Spasticity, Spastic paraparesis, Generalized hypo...	ORPHA:3208
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Spasticity, He...	OMIM:617341
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Spastic Paraplegia Type 7	Upper limb muscle weakness, Lower limb muscle weakness, Babinski sign, Abnormal pyramidal sign, A...	ORPHA:99013
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 38	Failure to thrive, Generalized hypotonia, Decreased activity of mitochondrial ATP synthase comple...	OMIM:618378
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Polycythemia, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal moto...	OMIM:613280
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia, Hypertonia	ORPHA:1389
Huntington Disease	Involuntary movements, Decreased body mass index, Difficulty walking, Inability to walk, Chorea, ...	ORPHA:399
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Cholelithiasis, Broad-based gait, Hepatic fibrosis, Abnormality of the spleen...	ORPHA:2072
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Infantile axial hypotonia, Tremor, Ankle clonus, Loss of ambulation, Ba...	ORPHA:521406
Renpenning Syndrome	Severe short stature, Growth delay, Decreased testicular size, Cachexia, Diabetes mellitus	ORPHA:3242
Hsd10 Mitochondrial Disease	Spasticity, Generalized hypotonia, Hypotonia, Abnormal mitochondrial morphology, Spastic tetraple...	OMIM:300438
Neurodegeneration With Brain Iron Accumulation 7	Spinocerebellar tract degeneration, Hypotonia, Tremor, Dysmetria, Loss of ambulation, Lower limb ...	OMIM:617916
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Mohr-Tranebjaerg Syndrome	Dystonia, Spasticity, Abnormal posturing, Tremor	OMIM:304700
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Hepatomegaly, Dystonia	OMIM:615924
Spinocerebellar Ataxia Type 37	Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy...	ORPHA:363710
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho...	ORPHA:225147
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia, Axial hypotonia	OMIM:618425
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Neonatal hypotonia, Intrauterine growth retardation, Hypotonia, Severe failure to thrive, Cachexi...	ORPHA:371364
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Facial diplegia, Babinski sign, Cachexia, Dystonia	OMIM:618186
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Autoimmune hemolytic anemia, S...	ORPHA:37042
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Tetraparesis, Generalized hypotonia, Lymphopenia, Hypotonia, Lymph node hypopl...	OMIM:613179
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia, Growth delay, Small for gestational age	OMIM:278780
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count	OMIM:613493
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Limb muscle weakness, Foot dorsiflexor weakness, Dysmetria, Gait ataxia, Tremor, Steppage gait, A...	OMIM:618387
Infantile-Onset X-Linked Spinal Muscular Atrophy	Tongue fasciculations, Abnormal anterior horn cell morphology, Generalized hypotonia, Cryptorchid...	ORPHA:1145
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Lower limb muscle weakness, Tremor, Babinski sign, Lower limb spasticity, Clo...	OMIM:600363
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Bethlem Muscular Dystrophy	Quadriceps muscle weakness, Difficulty walking, Reduced maximal expiratory pressure, Neck muscle ...	ORPHA:610
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Difficulty walking, Delayed menarche, Inability to walk, Abnormality of the mi...	ORPHA:330050
Gerstmann-Straussler Disease	Spasticity, Neurofibrillary tangles, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ata...	OMIM:137440
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, Apraxia, Gait distu...	OMIM:221770
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Ataxia, Hepatomegaly	ORPHA:391
Barth Syndrome	Failure to thrive, Cyclic neutropenia, Abnormal mitochondrial morphology, Gait disturbance, Granu...	OMIM:302060
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Cachexia, Muscle weakness	OMIM:175500
Sneddon Syndrome	Hemiplegia, Lymphopenia, Facial palsy, Tremor	OMIM:182410
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Lymphadenopathy, Thrombocytopenia, B l...	OMIM:618048
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Intrauterine growth retardation, Abnormality of the liver, Splenom...	ORPHA:84064
Rett Syndrome	Spasticity, Gait ataxia, Cachexia, Gait apraxia, Short stature, Truncal ataxia, Dystonia	OMIM:312750
Camurati-Engelmann Disease	Hypogonadism, Slender build, Leukopenia, Splenomegaly, Hepatomegaly, Cachexia, Delayed puberty, A...	ORPHA:1328
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Generalized hypotonia, Incoordination, Hypotonia, Limb ataxia, Gait ataxia, Dysmetria...	OMIM:213200
Hsd10 Disease	Spastic paraparesis, Postnatal growth retardation, Myoclonus, Tremor, Rigidity, Gait disturbance,...	ORPHA:391417
Ataxia-Telangiectasia-Like Disorder 2	Absent pubertal growth spurt, Progressive muscle weakness, Ataxia, Short stature, Unsteady gait, ...	OMIM:615919
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Muscle weakness, Fasciculations	ORPHA:65684
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Axial hypotonia, Limb hyperton...	ORPHA:70594
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L...	ORPHA:514
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Flynn-Aird Syndrome	Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland, Cache...	ORPHA:2047
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Tremor, Opisthotonus, Methemoglobinemia, Hypertonia, Growth delay	OMIM:250800
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Hypothyroidism, Dystonia, Frequent falls, Axial hypotonia	OMIM:619647
Spinocerebellar Ataxia 18	Limb muscle weakness, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Neck muscle weakness, Chorea, Myoclonus, Hypotonia, Genera...	OMIM:606703
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp...	OMIM:618108
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Difficulty walking, Chorea, Hyperkinetic movements, Infantile muscular hypotonia, Truncal ataxia,...	ORPHA:369847
Neutral Lipid Storage Myopathy	Gowers sign, Shoulder girdle muscle weakness, Fasciculations, Neck muscle weakness, Progressive d...	ORPHA:98908
Niemann-Pick Disease, Type C2	Spasticity, Neurofibrillary tangles, Cataplexy, Sea-blue histiocytosis, Hypotonia, Splenomegaly, ...	OMIM:607625
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Progressive muscle weakness	OMIM:151800
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Difficulty walking, Abnormal lower motor neuron morphology, Babins...	OMIM:602433
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Adreno...	ORPHA:100083
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Appendicular hypotonia, Absent circulating B cells, Decreased proportion of cla...	OMIM:619705
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Hypotonia, Tremor, Parkinsonism, Ataxia, Poor ...	OMIM:618049
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden...	ORPHA:545
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Intrauterine growth retardation, Torticollis	OMIM:617022
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Rhizomelia, Neonatal hypotonia, Leukopenia, Intrauterine growth retardation, Myoclonu...	OMIM:616271
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d...	OMIM:213600
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Cachexia, Ataxia	ORPHA:1933
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia	OMIM:606438
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenome...	OMIM:102700
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Progressive spasticity, Difficulty walking, Hypotonia, Tremor, Loss of ambulation, Babinski sign,...	ORPHA:137898
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, Myoclonic spasms, At...	ORPHA:79263
3-Methylglutaconic Aciduria, Type V	Failure to thrive, Decreased testicular size, Normochromic microcytic anemia, Postnatal growth re...	OMIM:610198
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Ataxia, Generalized hypotonia, Sideroblastic anemia, Hypotonia, Splenomegaly, B lymphocytopenia, ...	OMIM:616084
Agammaglobulinemia 10, Autosomal Dominant	Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells	OMIM:619707
Heme Oxygenase 1 Deficiency	Growth delay, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thromb...	OMIM:614034
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Hyperphenylalaninemia, Bh4-Deficient, C	Hypotonia, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Male hypogonadism, Shuffling gait, Resting tremor, Obesi...	OMIM:300055
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Abnormal ...	OMIM:614298
Oculopharyngeal Myopathy With Leukoencephalopathy 1	External ophthalmoplegia, Tremor, Proximal muscle weakness, Ataxia, Distal muscle weakness	OMIM:618637
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Congenital Fiber-Type Disproportion Myopathy	Weakness of muscles of respiration, Failure to thrive, Shoulder girdle muscle weakness, Hypotonia...	ORPHA:2020
Amyotrophic Lateral Sclerosis 16, Juvenile	Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness	OMIM:614373
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Hypogonadism, Decreased testicular size, Obesity, Tremor, Cachexia, Short stature	ORPHA:85293
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Failure to thrive, Generalized hypotonia, Difficulty walking, ...	ORPHA:442835
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Silver-Russell Syndrome	Premature adrenarche, Precocious puberty, Generalized neonatal hypotonia, Failure to thrive in in...	ORPHA:813
Chronic Beryllium Disease	Weight loss, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells	ORPHA:133
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Foot dorsiflexor weakness, Tremor, Splen...	OMIM:214500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration, Muscle wea...	ORPHA:713
Microphthalmia, Syndromic 9	Severe short stature, Multilobulated spleen, Generalized hypotonia, Intrauterine growth retardati...	OMIM:601186
Tbck-Related Intellectual Disability Syndrome	Neonatal hypotonia, Decreased response to growth hormone stimulation test, Inability to walk, Cen...	ORPHA:488632
Immunodeficiency, Common Variable, 6	Hepatomegaly, Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count	OMIM:613496
4H Leukodystrophy	Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Dysmetr...	ORPHA:289494
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Charcot-Marie-Tooth Disease And Deafness	Ankle weakness, Limb muscle weakness, Foot dorsiflexor weakness, Tremor, Steppage gait, Gait dist...	OMIM:118300
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Hypotonia, Myoclonus, Tremor, Proximal muscle weakness, Abnormal pyramidal sign, Dystonia, Progre...	ORPHA:139485
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Hypotonia, Gait ataxia, Dysmetria, Tremor, Ophthalmoplegia, ...	ORPHA:1170
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system,...	ORPHA:54251
Spinocerebellar Ataxia Type 14	Generalized hypotonia, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebel...	ORPHA:98763
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen...	ORPHA:520
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Failure to thrive...	OMIM:606367
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Resting tremor, Obesity, Tremor, Parkinsonism, Lower limb spast...	ORPHA:3077
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Generalized hypotonia, Abnormality of coordination, Limb dysto...	ORPHA:352649
Pfapa Syndrome	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:42642
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Sialidosis Type 1	Hypotonia, Myoclonus, Splenomegaly, Tremor, Gait disturbance, Ataxia, Short stature, Muscle weakn...	ORPHA:812
Atypical Rett Syndrome	Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Neonatal hypotonia, Hand ...	ORPHA:3095
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas...	ORPHA:331206
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,...	OMIM:261640
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Spasticity, Failure to thrive, Spastic tetraparesis, Hepato...	OMIM:619487
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Generalized hypotonia, Tremor, Rigidity, Ataxia, Short stature, Dystonia	OMIM:617836
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Failure to thrive, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Pr...	ORPHA:275761
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Immunodeficiency, Common Variable, 8, With Autoimmunity	Type I diabetes mellitus, Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Splenomeg...	OMIM:614700
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Pulmonary Blastoma	Weight loss	ORPHA:64741
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Hypotonia, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance	OMIM:618090
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Neurodegeneration With Brain Iron Accumulation 8	Hypotonia, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Ring Chromosome 10 Syndrome	Hypotonia, Intrauterine growth retardation, Cachexia	ORPHA:1438
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Hypotonia, Cryptorchidism, Tremor, Hyperkinetic movements, Gait disturbance, Truncal ...	OMIM:300957
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Short stature, Trunca...	OMIM:610185
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Hyp...	ORPHA:35858
Cerebral Creatine Deficiency Syndrome 2	Hypotonia, Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, I...	OMIM:612736
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Tetrasomy 12P	Short stature, Hypotonia, Cachexia	ORPHA:884
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Failure to thrive, Increased circulating prolactin concentration, Hypotonia, T...	ORPHA:35708
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Intrauterine growth retardation, T lymphocytopenia, Abnormal natural killer cell morphology, B ly...	OMIM:615966
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sig...	ORPHA:477673
Sandifer Syndrome	Anemia, Abnormal posturing, Torticollis	ORPHA:71272
Spinocerebellar Ataxia 2	Spasticity, Spinocerebellar tract degeneration, Fasciculations, Generalized hypotonia, Postural t...	OMIM:183090
X-Linked Agammaglobulinemia	Hepatitis, Failure to thrive, Abnormality of the lymphatic system, Weight loss, Abnormality of th...	ORPHA:47
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tremor, Distal lower li...	OMIM:302800
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Isaacs Syndrome	Weight loss, Muscle weakness, Fasciculations	ORPHA:84142
Microsporidiosis	Lymphadenitis, Abnormality of the parathyroid gland, Brain abscess, Hepatitis, Abnormality of the...	ORPHA:2552
Aceruloplasminemia	Blepharospasm, Involuntary movements, Abnormal pancreas morphology, Chorea, Limb ataxia, Gait ata...	ORPHA:48818
Cockayne Syndrome	Spasticity, Difficulty walking, Absence of pubertal development, Postnatal growth retardation, Ac...	ORPHA:191
Holocarboxylase Synthetase Deficiency	Hypotonia, Weight loss, Thrombocytopenia, Ataxia, Growth delay	ORPHA:79242
Amyotrophic Lateral Sclerosis 1	Spasticity, Muscle weakness, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Fasciculation...	OMIM:105400
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Short stature...	OMIM:614831
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Hypotonia, Limb dystonia, Trem...	OMIM:617013
Cataract-Ataxia-Deafness Syndrome	Short stature, Hypertonia, Tremor, Ataxia	ORPHA:1368
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Polyglucosan Body Neuropathy, Adult Form	Spastic paraplegia, Gait disturbance, Abnormal upper motor neuron morphology, Tetraparesis	OMIM:263570
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Inability to walk,...	OMIM:312080
Vici Syndrome	Abnormal posturing, Failure to thrive, Lymphopenia, Leukopenia, Postnatal growth retardation, Dec...	OMIM:242840
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Tremor, Lymphadenopathy, Hepatomegaly	ORPHA:3162
19Q13.11 Microdeletion Syndrome	Failure to thrive, Supernumerary nipple, Intrauterine growth retardation, Cryptorchidism, Cachexi...	ORPHA:217346
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas...	OMIM:619652
Leukodystrophy, Hypomyelinating, 6	Spasticity, Hypotonia, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stature, Dystonia, Cho...	OMIM:612438
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, External ophthalmoplegia, Tetraparesis, Inability to walk, Chorea, Cogwheel r...	OMIM:607483
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, ...	ORPHA:83471
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia	OMIM:128235
Isolated Anencephaly	Intrauterine growth retardation, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Aicardi-Goutieres Syndrome 7	Tetraparesis, Pancytopenia, Hepatic steatosis, Weight loss, Tetraplegia, Hepatomegaly, Spastic te...	OMIM:615846
Congenital Disorder Of Glycosylation, Type Ie	Failure to thrive, Generalized hypotonia, Hypotonia, Splenomegaly, Tremor, Ataxia, Hepatomegaly	OMIM:608799
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Failure to thrive ...	ORPHA:79124
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Ophthalmoparesis, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor,...	ORPHA:99750
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Myoclonus, Weight loss, Spinal cord compression, Ataxia, Anemia	OMIM:256700
Refractory Celiac Disease	Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr...	ORPHA:398063
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di...	OMIM:617145
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations, Loss of ambulation, Muscle ...	OMIM:613435
Typhoid	Splenomegaly, Tremor, Hypertonia, Ataxia, Hepatomegaly	ORPHA:99745
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Autoimm...	ORPHA:436252
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Weight l...	ORPHA:47612
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Failure to thrive, Hypotonia, Hepatomegaly, Weight loss, Anemia, Severe short-limb dw...	ORPHA:1842
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations	OMIM:619141
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Pediatric-Onset Graves Disease	Graves disease, Failure to thrive, Goiter, Puberty and gonadal disorders, Intrauterine growth ret...	ORPHA:525731
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Growth delay, B lymphocytopenia	OMIM:614069
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Hypogonadotrop...	OMIM:607694
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Upper limb muscle weakness, Difficulty walking, Hemiplegia, Spastic diplegia...	ORPHA:206443
Gm1 Gangliosidosis	Spasticity, Failure to thrive, Generalized dystonia, Generalized hypotonia, Hepatosplenomegaly, H...	ORPHA:354
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal upper limb muscle weakness, Spastic paraparesis, Difficulty walking, Decreased activity of...	OMIM:500013
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Failure to thrive, Exocrine pancreatic insufficiency, Hypotonia, Decreased activity o...	OMIM:616539
Immunodeficiency 31C	Growth delay, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Hypothyroidis...	OMIM:614162
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Hypotonia, Trem...	ORPHA:457240
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Spasticity, Amyotrophic lateral sclerosis, Babinski sign, Respiratory insufficiency due to muscle...	OMIM:612069
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Neuroblastoma	Elevated circulating catecholamine level, Myoclonus, Antalgic gait, Weight loss, Lymphadenopathy,...	ORPHA:635
Wolfram Syndrome 1	Growth delay, Sideroblastic anemia, Tremor, Hypothyroidism, Megaloblastic anemia, Thrombocytopeni...	OMIM:222300
Amyotrophic Lateral Sclerosis 18	Spasticity, Amyotrophic lateral sclerosis, Muscle weakness, Fasciculations	OMIM:614808
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Intrauterine growth retardation, Tremor, Short stature, Growth delay, Muscle w...	OMIM:617744
Thymic Carcinoma	Neoplasm of the thymus, Fatigable weakness, Weight loss, Diaphragmatic paralysis, Mediastinal lym...	ORPHA:99868
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Hypotonia, Myoclonus, Gait ataxia, Tremor, Rigidity...	OMIM:618877
Wars2-Related Combined Oxidative Phosphorylation Defect	Difficulty walking, Infantile axial hypotonia, Intrauterine growth retardation, Limb dystonia, Dy...	ORPHA:572798
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Gait disturbance	ORPHA:2774
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P...	OMIM:606693
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Generalized hypotonia, Hypotonia, Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Stepp...	OMIM:616505
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, Abnormal lymphatic vessel morpholo...	ORPHA:90362
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata...	OMIM:600116
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Abnormal B cell count,...	OMIM:620430
Nijmegen Breakage Syndrome	Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Short stature, Hemolytic...	ORPHA:647
Alzheimer Disease 3	Neurofibrillary tangles, Spastic tetraparesis, Myoclonus, Abnormality of extrapyramidal motor fun...	OMIM:607822
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Abnormal upper motor neuron morph...	OMIM:606070
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Tremor, L...	ORPHA:209335
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Polycythemia, Micronodular cirrhosis, Difficulty walking, Abnormality of the...	ORPHA:309854
Leukodystrophy, Hypomyelinating, 11	Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Apraxia, Parkinsonism, Abnormality of extrapyramidal moto...	ORPHA:100070
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret...	OMIM:616113
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Gait disturbance, Ataxia, Muscle weakness	ORPHA:99014
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Tremor, Weight loss, Increased circulating f...	OMIM:613239
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Hyperinsulinemia, Limb dystonia, Myoclonus, Ga...	ORPHA:363400
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Cachexia, Weight loss	ORPHA:1979
Amyotrophic Lateral Sclerosis 9	Spasticity, Distal muscle weakness, Amyotrophic lateral sclerosis	OMIM:611895
Beta-Ketothiolase Deficiency	Ataxia, Spasticity, Hypotonia, Leukocytosis, Weight loss, Thrombocytosis, Hepatomegaly, Extrapyra...	ORPHA:134
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia...	ORPHA:282166
Diffuse Alveolar Hemorrhage	Anemia, Weight loss, Leukocytosis, Thrombocytopenia	ORPHA:90060
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Foot dorsiflexor weakness, Tremor, Babins...	OMIM:616586
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Leukopenia, Thrombocytosis, Myoclonus, Spastic hemiparesis, Leukocytosis, Lipid accum...	ORPHA:20
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr...	OMIM:201100
Eosinophilic Gastroenteritis	Anemia, Eosinophilia, Weight loss, Leukocytosis	ORPHA:2070
Dilated Cardiomyopathy With Ataxia	Neonatal hypotonia, Bilateral cryptorchidism, Normochromic microcytic anemia, Intrauterine growth...	ORPHA:66634
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Reticulocytopeni...	ORPHA:508542
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
12Q14 Microdeletion Syndrome	Failure to thrive, Abnormality of the spleen, Intrauterine growth retardation, Hypotonia, Tremor,...	ORPHA:94063
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Chorea, Limb ataxia, Gait ataxia, Tremor, Progressive external ophthalmoplegia, Loss of ambulatio...	OMIM:208920
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia...	OMIM:619738
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Behr Syndrome	Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre...	OMIM:210000
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Graves ...	ORPHA:227982
Juvenile Polyposis Of Infancy	Generalized hypotonia, Cachexia, Short stature, Anemia, Refractory anemia	ORPHA:79076
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Type I ...	ORPHA:227990
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Generalized hypotonia, Incoordination, Cryptorchidism, Tremor, Oculomotor apraxia, Abnormal pyram...	OMIM:618060
Trisomy 18	Intrauterine growth retardation, Hypotonia, Cryptorchidism, Cachexia, Spina bifida, Hypertonia, S...	ORPHA:3380
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Hypotonia, Hypoplasia of the thymus, Adrenal hypoplasia, Growth delay	OMIM:613177
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Limb muscle weakness, Tremor, Bulbar palsy, Testicular atrophy	OMIM:313200
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Short stature, Aplasia of the thymus	ORPHA:3004
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss	ORPHA:33276
Cryptogenic Organizing Pneumonia	Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Myopathy, Mitochondrial, And Ataxia	Increased circulating prolactin concentration, Generalized hypotonia, Difficulty walking, Inabili...	OMIM:617675
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Babinski sign, Bradykinesia, Decreased activity of mitochondrial ...	OMIM:619063
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Intrauterine growth...	OMIM:620133
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ataxia, Jaundice, ...	ORPHA:167
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Neurofibrillary tangles, Akinesia, Limb dystonia, Rigidity, Parkinson...	OMIM:616840
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Lower limb muscle weakness, Jaundice, Weight loss, Pancreatitis, Torticollis,...	ORPHA:370348
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic...	ORPHA:284
22Q11.2 Deletion Syndrome	Cholelithiasis, Failure to thrive, Intrauterine growth retardation, Hypotonia, Obesity, Cryptorch...	ORPHA:567
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Intrauterine growth retardation, Hypotonia, Tremor, Abnormal pyramida...	ORPHA:765
Hyperphenylalaninemia, Bh4-Deficient, B	Generalized hypotonia, Hypotonia, Tremor, Rigidity, Hyperkinetic movements, Severe muscular hypot...	OMIM:233910
Tay-Sachs Disease	Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Precocious puberty, Ina...	ORPHA:845
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Difficulty walking, Neck muscle weakness, Proximal muscl...	ORPHA:466768
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro...	ORPHA:293978
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Hemophagocytosis	ORPHA:86884
Treacher-Collins Syndrome	Blepharospasm, Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the ad...	ORPHA:861
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis, Weight loss	ORPHA:2902
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Autosomal Dominant Progressive External Ophthalmoplegia	External ophthalmoplegia, Resting tremor, Limb muscle weakness, Ophthalmoplegia, Ataxia, Bradykin...	ORPHA:254892
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym...	ORPHA:829
Celiac Disease, Susceptibility To, 1	Ataxia, Type I diabetes mellitus, Failure to thrive, Postnatal growth retardation, Macrocytic ane...	OMIM:212750
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Thrombocytosis, Primar...	ORPHA:2905
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Fasciculations, Hypotonia, Foot dorsiflexor weakness, Polyminimyoclonus, Trem...	OMIM:619574
Takayasu Arteritis	Anemia, Weight loss, Muscle weakness	ORPHA:3287
Idiopathic Achalasia	Weight loss	ORPHA:930
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ...	OMIM:620005
Perry Syndrome	Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss...	OMIM:168605
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia

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