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Gene: Clk1 MGI:107403

Gene Summary

Name:

CDC-like kinase 1

Synonyms:

Clk1, STY

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal retina morphology	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.61×10^-06
increased startle reflex	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.25×10^-10
decreased NK cell number	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.14×10^-05
abnormal response to tactile stimuli	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.70×10^-06
decreased circulating calcium level	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.82×10^-06
increased IgG2b level	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.43×10^-08
increased circulating phosphate level	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.42×10^-06
increased circulating creatinine level	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.45×10^-05
tremors	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.66×10^-05
increased bone mineral content	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.54×10^-05
decreased granulocyte number	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.03×10^-06
thrombocytosis	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.34×10^-06
decreased circulating serum albumin level	Clk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.83×10^-05

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Human diseases caused by Clk1 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 Clk1 (0 diseases)
Human diseases predicted to be associated with Clk1 (968 diseases)

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

The table below shows human diseases predicted to be associated to Clk1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi...	OMIM:160120
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Hypoc...	ORPHA:94090
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega...	OMIM:619924
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Optic Atrophy 2	Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor	OMIM:311050
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Abnormal circulatin...	OMIM:620632
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increase...	OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha...	OMIM:308240
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis, Increased alpha-globulin	OMIM:235900
Hypoparathyroidism, Familial Isolated, 1	Chvostek sign, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Mildly elevated creatine kinase, Tremor	OMIM:614369
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Incre...	ORPHA:36913
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Alpha-Heavy Chain Disease	Anemia, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia	ORPHA:100025
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Reduced bone mineral density, Abnormality of thrombocytes, Hypocalcemia	ORPHA:172
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Increased bone density with cystic ch...	ORPHA:94089
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati...	ORPHA:309169
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinoph...	OMIM:226990
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos...	ORPHA:158057
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part...	OMIM:618261
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia	OMIM:618618
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Neutropenia, Ataxia, Spastic tetraparesis, Increased level of L-pyrogluta...	OMIM:266130
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Hyperphenylalaninemia, Transient hyperphenylalaninemia	OMIM:264070
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration	OMIM:154276
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Elevated ci...	OMIM:604416
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase c...	OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration...	ORPHA:64753
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Lymphopenia, Decreased circulat...	ORPHA:90362
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increase...	ORPHA:507
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Hypocalcemia	OMIM:619073
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	OMIM:615048
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Transient hypophosp...	OMIM:127000
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Tremor, Decreased serum cre...	OMIM:617744
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase...	OMIM:267700
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Retinopathy, Hyperuricemia, Angioid streaks of ...	OMIM:239000
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, L...	ORPHA:94093
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration...	OMIM:619868
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis...	OMIM:612736
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In...	OMIM:619313
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Rigidity, Elevated circulating creatine kinase concentration	OMIM:145600
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Glut1 Deficiency Syndrome 2	Reticulocytosis, Tremor, Reduced haptoglobin level, Splenomegaly, Ataxia, Dystonia, Hemolytic ane...	OMIM:612126
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Oculomotor apraxia, Hypercholesterolemia, Tetraplegia, Abnormal pyramidal sign, ...	OMIM:616267
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Spastic dysarthria, Hypercholesterolemia, Ataxia	ORPHA:94124
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Iron deficiency anemia	ORPHA:89937
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferri...	OMIM:603553
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia	OMIM:617018
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Decreased circulating complement C3 concentration, Drusen	ORPHA:54370
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis	ORPHA:88643
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Autosomal Dominant Hypocalcemia	Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Writer's cramp, Cortical myoclonu...	ORPHA:428
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial paralysis, Pancytopenia, Splenomegaly, Hypocalcemia, Osteopetrosis, Thrombo...	OMIM:259700
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Saccharopinuria	Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal ci...	ORPHA:3124
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Cogwheel rigidity, Gai...	OMIM:128230
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Hypermanganesemia, S...	ORPHA:521406
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia, Ataxia	OMIM:607250
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Anemia, Hyperlipidemia	OMIM:603278
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Hyperostosis, Angioid streaks of the fundus, Subperiosteal bone formation, Cal...	OMIM:211900
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Elevated circulating creatinine concentration, Papilledema, Osteopetrosis, An...	OMIM:620366
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia	OMIM:612526
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4...	ORPHA:443811
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Alg6-Cdg	Hypoalbuminemia, Retinal degeneration, Decreased LDL cholesterol concentration, Rod-cone dystroph...	ORPHA:79320
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia	OMIM:613752
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody l...	OMIM:226300
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ...	OMIM:614034
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Chorea, Hyperammonemia, Hemiplegia/hemiparesis, Neutropenia, Thrombocytopenia, Ane...	ORPHA:289916
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Extramedullary hematopoiesis, Cranial hyperostosis, Increased bone mineral density...	OMIM:259720
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Albers-Schönberg Osteopetrosis	Optic atrophy, Hypocalcemia, Abnormal leukocyte morphology, Generalized osteosclerosis, Anemia	ORPHA:53
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia	OMIM:179800
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Anemia, Increased circulating IgA level, Thrombocytosis, Elevated circul...	OMIM:615934
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:604290
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hypertriglyceridemi...	OMIM:615924
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Postural tremor, Myoclonus, Action tremor, Gait ataxia, Thrombocytopenia, Intent...	OMIM:254900
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c...	ORPHA:540
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Ataxia, Decreased circulating IgG level, Osteopenia, Hypocholesterolemia, Decrea...	OMIM:212065
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T...	ORPHA:169154
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased sku...	ORPHA:93325
Basal Ganglia Calcification, Idiopathic, 1	Athetosis, Bradykinesia, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramid...	OMIM:213600
X-Linked Agammaglobulinemia	Hypocalcemia, Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous absc...	ORPHA:47
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Hypocalcemic tetany, Subcutaneous ossification, Hyperphosphatemia	OMIM:103580
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Segawa Syndrome, Autosomal Recessive	Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func...	OMIM:605407
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic...	ORPHA:93324
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit...	ORPHA:216873
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Increased p...	OMIM:614307
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Calciphylaxis	Ectopic ossification, Hyperphosphatemia	ORPHA:280062
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Cutaneous abs...	OMIM:618944
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Ataxia, Osteopenia, Reduced natural killer cell count, Decreased lymphocyte proliferation in resp...	ORPHA:221139
Pseudohypoparathyroidism Type 1A	Involuntary movements, Ectopic ossification, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic ...	ORPHA:79443
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc...	OMIM:617994
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Polycythemia, Increased total iron binding capacity, Bradykinesia, Tremor, R...	OMIM:613280
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
2P21 Microdeletion Syndrome	Cystinuria, Hypocalcemia	ORPHA:163693
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Aceruloplasminemia	Parkinsonism, Torticollis, Ataxia, Decreased circulating ceruloplasmin concentration, Decreased c...	ORPHA:48818
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor	ORPHA:217012
Phenylketonuria	Osteopenia, Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylalaninemia, Ataxia	ORPHA:716
C3 Glomerulopathy	Paraproteinemia, Elevated circulating creatinine concentration, Central serous chorioretinopathy,...	ORPHA:329918
Celiac Disease, Susceptibility To, 1	Rickets, Decreased circulating IgA level, Thrombocytosis, Hypocalcemia, Macrocytic anemia, Iron d...	OMIM:212750
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Spinocerebellar Ataxia 7	Optic atrophy, Spasticity, Macular degeneration, Pigmentary retinopathy, Chorea, Dysmetria, Tremo...	OMIM:164500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia	OMIM:617056
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Spinocerebellar Ataxia 37	Frequent falls, Tremor, Ataxia	OMIM:615945
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,...	OMIM:600081
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia	OMIM:244460
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Osteomal...	ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteomalacia, Hypocalcemia, Hypophosphatemia, Bone cyst, Os...	ORPHA:93160
Pseudohypoparathyroidism Type 1C	Ectopic ossification, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, C...	ORPHA:79444
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Park...	OMIM:260300
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re...	ORPHA:247353
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia, Bone cyst	ORPHA:2668
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro...	ORPHA:292
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc...	ORPHA:2070
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia	OMIM:608104
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Intention tremor, Abno...	ORPHA:101110
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia	OMIM:619013
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Cerebral palsy, Hypertonia, Hemolytic anemia, Hyper...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Cerebral palsy, Hypertonia, Hemolytic anemia, Hyper...	ORPHA:529799
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Hypocalcemia, Sparse bone tr...	OMIM:264700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:603909
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Microangiopathic hemolytic anemia, Eleva...	OMIM:235400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Osteopenia, Increased circulating IgE level, Decreased circulati...	ORPHA:98813
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hyperammonemia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Dystonia, Cho...	ORPHA:79312
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia	OMIM:618805
Beta-Ketothiolase Deficiency	Ataxia, Spasticity, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Extrapyramidal d...	ORPHA:134
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen	OMIM:617872
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In...	OMIM:616053
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Frequent falls, Hemiballismus, Tremor	ORPHA:494526
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Hemiplegia...	OMIM:243700
Pontocerebellar Hypoplasia, Type 15	Spastic tetraplegia, Thrombocytopenia, Hypertonia, Anemia, Dystonia, Chronic neutropenia	OMIM:619302
Chylomicron Retention Disease	Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia	OMIM:246700
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Optic atrophy, Spasticity, Spastic tetraparesis, Hepatosplenomegaly, Spastic dip...	OMIM:619487
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Spasticity, Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemi...	OMIM:618476
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Rhabdoid Tumor	Cerebral palsy, Hemiplegia, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Tremor, Elevated circulating creatine kinase concentration	ORPHA:276435
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ...	OMIM:242860
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Chorioretinal hypopigmentation, Optic atrophy, Bone marrow hypocellularity, Leuk...	OMIM:617303
Pontocerebellar Hypoplasia, Type 14	Hypertonia, Thrombocytopenia, Dystonia, Spastic tetraplegia, Chronic neutropenia	OMIM:619301
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Lympho...	ORPHA:1667
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Spasticity, Abnormal optic nerve morphology, Tremor, Rigidity, Macular dystrophy, ...	ORPHA:33445
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia, Hand tremor, Periodic paralysis	OMIM:609153
Epilepsy, Progressive Myoclonic, 6	Ataxia, Myoclonus, Tremor, Elevated circulating creatine kinase concentration	OMIM:614018
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Increased circulating IgE level, Hypocalcemia, Autoimmune hemoly...	ORPHA:37042
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert...	OMIM:603552
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Ataxia, Hypertriglyceridemia	OMIM:617575
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia, Ataxia	OMIM:616949
Folate Malabsorption, Hereditary	Ataxia, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Athetosis	OMIM:229050
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Rigidity, Increased circulating Interferon-alpha concentration, Thrombocyto...	OMIM:615010
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spasticity, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Spastic hemiparesis,...	ORPHA:20
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor	ORPHA:79234
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Ataxia, Optic atrophy, Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly...	OMIM:615688
Ataxia-Pancytopenia Syndrome	Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Ankle clonus, Babinski sign, Thro...	OMIM:159550
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy...	OMIM:243150
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo...	ORPHA:247585
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Increased circulating ...	OMIM:301074
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia	OMIM:618387
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Proximal Myopathy With Extrapyramidal Signs	Progressive extrapyramidal movement disorder, Involuntary movements, Optic atrophy, Resting tremo...	ORPHA:401768
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Reduced bone mineral density, Retinopathy, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin conce...	ORPHA:713
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy...	ORPHA:251282
Abetalipoproteinemia	Hypoalbuminemia, Ataxia, Osteopenia, Hypotriglyceridemia, Hypopigmentation of the fundus, Hypocho...	ORPHA:14
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Ocular albinism, Reduced nat...	OMIM:608233
Neurodegeneration With Brain Iron Accumulation 7	Dysmetria, Tremor, Lower limb spasticity, Ataxia, Increased circulating very long-chain fatty aci...	OMIM:617916
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:612437
Hypophosphatemic Bone Disease	Hypophosphatemia, Rickets, Osteomalacia	OMIM:146350
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Subacute Inflammatory Demyelinating Polyneuropathy	Leukocytosis, Tremor, Increased circulating IgG level, Frequent falls, Choreoathetosis	ORPHA:206594
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Spasticity, Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell a...	OMIM:618213
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal...	ORPHA:31824
Alg12-Cdg	Hypoalbuminemia, Abnormal circulating IgM level, Hypocholesterolemia, Complete or near-complete a...	ORPHA:79324
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Decreased circulatin...	OMIM:606159
Wilson Disease	Hypouricemia, Osteomalacia, Hyperbilirubinemia, Limb dystonia, Decreased circulating ceruloplasmi...	OMIM:277900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function...	OMIM:613179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ...	OMIM:600802
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration, Decreased circulating complement C3 concentration,...	ORPHA:567544
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Abscess, Elevated c...	ORPHA:36234
Multiple Myeloma	Osteopenia, Elevated circulating creatinine concentration, Splenomegaly, Increased circulating Ig...	ORPHA:29073
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Tremor, Dysmetria, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Hyperostosis, Periostosis	OMIM:614441
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Decreased circulating IgA level, Hypocalcemia, Retinal detachmen...	OMIM:607143
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Adamantinoma	Hypercalcemia	ORPHA:55881
Cystathioninuria	Cystathioninuria, Cystathioninemia, Tremor	ORPHA:212
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Decreased circulating IgG level	OMIM:152800
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Decreased circulating complement C4 ...	ORPHA:90060
Hypotonia-Cystinuria Syndrome	Cystinuria, Hypocalcemia	OMIM:606407
Coach Syndrome 2	Elevated circulating creatinine concentration, Oculomotor apraxia, Chorioretinal coloboma	OMIM:619111
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Hyperphosphatemia, Calvarial hyperostosis, Epiphyseal stippling, Neonatal epiphyse...	OMIM:101800
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysdiadochok...	ORPHA:254881
Poems Syndrome	Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomega...	ORPHA:2905
Myopathy With Extrapyramidal Signs	Optic atrophy, Extremely elevated creatine kinase, Chorea, Leukocytosis, Splenomegaly, Tremor, El...	OMIM:615673
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Optic atrophy, Spasticity, Osteopenia, Hypocalcemia, Splenomegaly, Hypokalemia, Hy...	OMIM:617913
Peroxisome Biogenesis Disorder 5B	Elevated circulating phytanic acid concentration, Dysmetria, Tremor, Oculomotor apraxia, Rod-cone...	OMIM:614867
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia	OMIM:615768
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Dystonia 28, Childhood-Onset	Spasticity, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dystonia, Oromandibu...	OMIM:617284
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favo...	ORPHA:314632
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia, Decreased skull ossification	OMIM:602361
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Decreased lymphocyte proliferation in respons...	OMIM:619381
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Hemophagocytic Syndrome Associated With An Infection	Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ...	ORPHA:158048
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Hypo...	ORPHA:86816
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Thro...	OMIM:222470
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Splenomegaly, Hypocalcemia, Tremor, Hypophosphatemia, Osteopetrosis, Ane...	ORPHA:667
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Decreased circ...	OMIM:618183
Familial Isolated Hyperparathyroidism	Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Non-Functioning Paraganglioma	Hypertensive retinopathy, Hypercalcemia, Vocal cord paralysis, Tremor	ORPHA:94080
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat...	OMIM:620603
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Decreased lymphocyte proliferation in re...	ORPHA:572
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Fre...	OMIM:159950
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Bone marrow hypocellularity, Tetraparesis, Pancytopenia, Leukopenia, Hypocalcemia,...	ORPHA:2785
Spinocerebellar Ataxia 18	Dysmetria, Tremor, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Urocanic Aciduria	Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentration, Truncal ataxia	ORPHA:210128
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ...	OMIM:616959
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia	OMIM:615362
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Hypophosphatasia	Anemia, Craniosynostosis, Hypercalcemia	ORPHA:436
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Hyperbilirubinemia	OMIM:613070
Spinocerebellar Ataxia Type 37	Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis	ORPHA:363710
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ...	OMIM:242150
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Spasticity, Osteopenia, Gait ataxia, Dysmetria, Tremor, Apraxia	OMIM:617810
Cystinosis	Aminoaciduria, Rickets, Retinopathy, Hypokalemia, Hypophosphatemia, Abnormal pyramidal sign	ORPHA:213
Dent Disease 2	Aminoaciduria, Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Paternal Uniparental Disomy Of Chromosome 1	Myoclonus, Episodic hemolytic anemia, Increased blood urea nitrogen, Macular dystrophy, Craniosyn...	ORPHA:251004
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly	OMIM:608776
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Chorea, Chorioretinitis, Anemia...	ORPHA:1304
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Tremor, Rigidity, Parkinsonism, Hyperphenylalaninemia, Limb hypertonia, Hypertonia,...	OMIM:261640
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Hypophosphatemia	OMIM:612287
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,...	ORPHA:90363
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Increased circulating interleukin 6 concentration, Elevated circulating creati...	ORPHA:340
Hsd10 Disease	Optic atrophy, Spastic paraparesis, Abnormal urinary acylglycine profile, Myoclonus, Tremor, Rigi...	ORPHA:391417
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Hypermanganesemia With Dystonia 2	Spasticity, Generalized dystonia, Bradykinesia, Limb dystonia, Tremor, Elevated circulating creat...	OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 30	Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Increased serum py...	OMIM:619405
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level, Tremor, Fasciculations	ORPHA:99965
Oncogenic Osteomalacia	Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia	ORPHA:352540
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ...	OMIM:208900
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Pearson Syndrome	Ataxia, Bone marrow hypocellularity, Pigmentary retinopathy, Hypomagnesemia, Pancytopenia, Hypoca...	ORPHA:699
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Optic atrophy, Bone marrow hypocellularity, Decreased circulating IgG level, Hep...	ORPHA:505248
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Retinal vas...	OMIM:618969
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Bradykinesia...	ORPHA:454887
Interstitial Lung And Liver Disease	Aminoaciduria, Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytosis, Anemia	OMIM:615486
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo...	OMIM:248250
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait	OMIM:600363
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype...	OMIM:613135
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemic r...	ORPHA:157215
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia	OMIM:128235
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	OMIM:313200
Propionic Acidemia	Hyperglycinuria, Pancytopenia, Hyperglycinemia, Hyperammonemia, Limb hypertonia, Neutropenia, Thr...	OMIM:606054
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Rickets, Osteomalacia	OMIM:179830
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop...	OMIM:241530
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Hypophosphatemia	OMIM:612286
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618987
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Oculopharyngodistal Myopathy 3	Ataxia, Pigmentary retinopathy, Tremor, Elevated circulating creatine kinase concentration	OMIM:619473
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Myoclonus, Abscess, Eosinophilia, Neutropenia, Atax...	OMIM:615816
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, E...	OMIM:251880
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Limb fasciculations, Tremor, Elevated circulating creatine kinase concentration	ORPHA:90117
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Decreased circulating complement factor B concentration, Hypotriglyceridemia, Ab...	ORPHA:2298
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Spasticity, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia	OMIM:617093
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, El...	OMIM:617388
Oculoskeletodental Syndrome	Splenomegaly, Hypercalcemia, Hypocalcemia	OMIM:618440
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Tremor, Dysmetria, Babinski sign, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Leukocytosis, Lung abscess, Anemia, Liver abscess	ORPHA:67
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ...	ORPHA:100024
Timothy Syndrome	Hypocalcemia	OMIM:601005
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	ORPHA:329284
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci...	ORPHA:88618
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Hypocalcemia, Neutropenia, Abnormal bone ossification, Anemi...	ORPHA:175
Mitochondrial Trifunctional Protein Deficiency	Babinski sign, Pigmentary retinopathy, Frequent falls, Hypocalcemia	ORPHA:746
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets, Aminoaciduria	OMIM:618913
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Syndromic Diarrhea	Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Ab...	ORPHA:84064
Spinocerebellar Ataxia 23	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Babinski sign	OMIM:610245
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Abnormal circulating biopterin concentration, Hypomagnesemia, ...	ORPHA:1578
Spastic Tetraplegia And Axial Hypotonia, Progressive	Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Hype...	OMIM:618598
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Dystonia, Hyperuricemia, Abnormality of extrapyram...	ORPHA:79233
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypercalcemia, Craniosynostosis	OMIM:614732
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Myelofibrosis	ORPHA:729
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Aminoaciduria, Myoclonus, Elevated circulating creatine kinase concentration, Cl...	OMIM:619055
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Increased circulating IgE level, Hypernatremia	OMIM:615508
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia, Hemiplegia, Tremor	OMIM:182410
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Fanconi Renotubular Syndrome 1	Aminoaciduria, Rickets, Osteomalacia, Hypokalemia, Hypophosphatemia	OMIM:134600
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Optic atrophy, Spasticity, Hyperalaninemia, Chorioretinal hyperpigmentation	OMIM:618329
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ...	ORPHA:411634
Fanconi Renotubular Syndrome 2	Generalized aminoaciduria, Osteopenia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:613388
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Tick-Borne Encephalitis	Tongue fasciculations, Incoordination, Speech apraxia, Leukopenia, Leukocytosis, Abnormal circula...	ORPHA:297
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki...	OMIM:612953
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets	OMIM:612089
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia...	OMIM:275350
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Increased circulating antibody level, Increased circulating...	ORPHA:85443
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia	OMIM:618495
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Tetraparesis, Sclerosis of skull base, Osteosclerosis of the ulna, Paraparesis...	OMIM:602080
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618986
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Hypophosphatemia, Abnormal c...	OMIM:307800
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga...	ORPHA:79124
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Rickets	OMIM:615605
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Optic atrophy, Decreased circulating IgG level, Decreased ci...	OMIM:612301
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Chorioretinitis, Complete or near-complete a...	OMIM:301081
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia, Thin bony cor...	OMIM:277440
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Neurodegeneration With Brain Iron Accumulation 8	Dysmetria, Tremor, Ataxia	OMIM:617917
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology	OMIM:219750
Hypophosphatasia, Infantile	Unossified vertebral bodies, Elevated plasma pyrophosphate, Decreased calvarial ossification, Ane...	OMIM:241500
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Tremor, Dysmetria, Limb hypertonia, Thrombocytopenia, Ataxia, Hypertonia, Rod-cone...	OMIM:617710
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Infantile Myofibromatosis	Hypercalcemia, Osteolysis, Hemiplegia/hemiparesis, Bone cyst	ORPHA:2591
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Abnormal circulating cytokine concentration, Increased b...	ORPHA:94059
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Optic atrophy, Spasticity, Osteopenia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Osteop...	ORPHA:529665
Spinal Cord Injury	Spasticity, Hypercalcemia, Weakness due to upper motor neuron dysfunction, Allodynia	ORPHA:90058
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Limb ataxia, Gait ataxia, Chorioretinal atrophy, Action tremor, Ret...	OMIM:615651
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Hypocalcemia, Vocal cord paralysis	ORPHA:64744
Autosomal Spastic Paraplegia Type 58	Erratic myoclonus, Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Tremor, Dysme...	ORPHA:397946
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, Tremor, Frequent falls	OMIM:616719
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Increased circulating Ig...	ORPHA:186
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Brain abscess, Leukocytosis, Hypocalcemia, Hemipare...	ORPHA:544482
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Hyperphenylalaninemia, Limb hypertonia, Dystonia, Chore...	OMIM:233910
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,...	OMIM:617145
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo...	ORPHA:324636
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Myoclonus, Tremor, Dysmetria, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,...	ORPHA:79263
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia	OMIM:213200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Macular edema, Elevated circulating creatinine concentration, Hemiparesis, Abn...	ORPHA:247691
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia, Rickets, Aminoaciduria	OMIM:616026
Oculopharyngodistal Myopathy 4	Postural tremor, Tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Sialidosis Type 2	Abnormal macular morphology, Splenomegaly, Tremor, Ataxia, Osteoporosis	ORPHA:87876
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Dysmetria, Tremor, Lower limb spasticity, Ataxia	OMIM:619028
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis	OMIM:618049
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Pancytopenia, Hypocalcemia, Thin bony cortex, Anemia, Uncon...	OMIM:613658
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Aminoaciduria, Hypophosphatemia	OMIM:308990
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Myoclonus, Tremor, Gait...	ORPHA:363400
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Behr Syndrome	Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia...	OMIM:210000
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Optic atrophy, Spasticity, Ataxia, Dystonia, Spastic tetraplegia	OMIM:251300
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia	ORPHA:1655
Pyruvate Dehydrogenase E1-Alpha Deficiency	Episodic ataxia, Myoclonus, Tremor, Hyperalaninemia, Dystonia, Increased serum pyruvate, Choreoat...	OMIM:312170
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Bradykinesia, Incoordination, Limb fasciculations, Limb atax...	OMIM:615157
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Spasticity, Hyperammonemia, Craniofacial dystonia, Neutropenia	OMIM:618253
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Xfe Progeroid Syndrome	Hypoalbuminemia, Optic atrophy, Poor coordination, Attenuation of retinal blood vessels	OMIM:610965
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Spastic paraplegia, Optic atrophy, Ankle clonus, Babinski sign, Exaggerated startle response, Opt...	OMIM:609541
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Glutathionuria	Glutathionuria, Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Rift Valley Fever	Macular edema, Retinal hemorrhage, Hemiparesis, Retinal vasculitis, Paralysis, Retinitis, Parapar...	ORPHA:319251
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia	OMIM:620443
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, ...	ORPHA:240085
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia	ORPHA:306669
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Abnormal macular morphology, Retinopathy, Splenomegaly, Tremor, Elevated circulati...	OMIM:608799
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Hyperglycinemia, Hyperammonemia, Tremor, Neutropenia, Thrombocytopenia, Anemia, Met...	OMIM:251100
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Rickets, Osteomalacia, Hyperbilirubinemia, Increased ser...	OMIM:227810
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia, Hypertonia	ORPHA:79477
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia, Hyperkinetic movements, Myoclonic spasms	ORPHA:73224
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Ataxia-Telangiectasia	Spasticity, Lymphopenia, Tremor, Ataxia, Decreased circulating antibody level	ORPHA:100
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Dent Disease 1	Aminoaciduria, Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hy...	OMIM:300009
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Spasticity, Lower limb spasticity, Clonus, Hypertonia, Ataxia, Exaggerated startle...	OMIM:616881
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Ataxia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macroth...	OMIM:603585
Hennekam Syndrome	Lymphopenia, Hypocalcemia, Splenomegaly, Craniosynostosis, Decreased circulating antibody level	ORPHA:2136
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Dysmetria, Tremor, Hemiplegia/hemiparesis, Abnormal pyramida...	ORPHA:96
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Optic atrophy, Decerebrate rigidity, Laryngeal dystonia, Inc...	ORPHA:845
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Neuroferritinopathy	Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Chorea, Leg dys...	ORPHA:157846
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Tremor, Opisthotonus, Methemoglobinemia, Hypertonia	OMIM:250800
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	ORPHA:209335
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Elevated circulating creatine kinase conce...	OMIM:606002
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Bradykinesia, Postural tremor, Cogwheel rigidity, Gait ataxi...	OMIM:600116
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign,...	ORPHA:309246
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Clumsiness, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Craniosynostosis, Anemia, Decreased circulating antibody level	ORPHA:79396
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Hypocalcemic tetany, Decreased proport...	ORPHA:83471
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Paraparesis, Tremor, Ataxia	ORPHA:99014
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N...	ORPHA:3260
Mohr-Tranebjaerg Syndrome	Optic atrophy, Generalized dystonia, Tremor, Ankle clonus, Agammaglobulinemia, Babinski sign, Apr...	ORPHA:52368
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Dysmetria, Tremor, Hypersegmentation of neutrophil nuclei	OMIM:615578
Developmental And Epileptic Encephalopathy 68	Spasticity, Myoclonus, Clonus, Exaggerated startle response	OMIM:618201
Senior-Loken Syndrome 1	Anemia, Elevated circulating creatinine concentration, Retinal dystrophy	OMIM:266900
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Hypercalcemia, Vocal cord paralysis, Tremor	ORPHA:276621
Ethylene Glycol Poisoning	Myoclonus, Hypocalcemia, Ataxia, Hyperkalemia, Slurred speech	ORPHA:31826
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Periodic hypokalemic paresis, Hypomagnesemia, Tremor, Respiratory paralysis...	ORPHA:79102
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Postural tremor, Tremor, Dysmetria, Babinski sign, Ataxia, Dystonia	OMIM:607694
Velocardiofacial Syndrome	Impaired T cell function, Hypocalcemia, Retinal vascular tortuosity	OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Abnormality of T cell physiology, Hypocalcemia, Rod-cone dystrophy	ORPHA:2237
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia	ORPHA:70594
Stiff-Person Syndrome	Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Anemia, Frequent falls	OMIM:184850
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Hand tremor, Torsion dystonia, Progressive extrapyramidal muscular...	ORPHA:53351
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Spasticity, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutrop...	OMIM:250940
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia	OMIM:600740
Chediak-Higashi Syndrome	Ataxia, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, Splenomegaly, T...	OMIM:214500
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ataxia, Hypoprotei...	ORPHA:167
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Papillorenal Syndrome	Macular degeneration, Optic disc coloboma, Retinal coloboma, Elevated circulating creatinine conc...	OMIM:120330
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Mccune-Albright Syndrome	Bone marrow hypocellularity, Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Pa...	ORPHA:562
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Generalized dystonia, Tremor, Elevated circulating creatine kinase con...	OMIM:614298
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Involuntary movements, Spasticity, Abnormality of coordination, Myoclonus, Tremor,...	ORPHA:442835
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia	ORPHA:163979
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Tremor, Ataxia	OMIM:616494
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Attenuation of retinal blood vessels	OMIM:614376
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Right hemipl...	OMIM:607426
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperho...	OMIM:614857
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Bradykinesia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, ...	OMIM:618877
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Generalized bone...	ORPHA:199299
Fibrous Dysplasia Of Bone	Rickets, Osteomalacia, Cortical irregularity, Fibrous dysplasia of the bones, Hypophosphatemia, T...	ORPHA:249
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Periodic paralysis, Tremor	OMIM:613239
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Abnormal circulating biopterin concentration, Abnormal circulating...	OMIM:612716
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thrombocytopeni...	ORPHA:88
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Progressive spastic paraplegia, Abnormality of extrapyramidal motor function, Exag...	ORPHA:320406
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidity, Babinski sign, Parkins...	OMIM:606693
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Osteopenia, Rickets, Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat...	ORPHA:542323
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hypophosphatemia, Hypercalcemia	OMIM:156400
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Kawasaki Disease	Elevated circulating C-reactive protein concentration, Thrombocytosis, Leukocytosis, Hypoalbuminemia	ORPHA:2331
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Spastic paraparesis, Polycythemia, Increased total...	ORPHA:309854
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Spasticity, Infection associated neutropenia, Myoclonus, Abnormality...	ORPHA:445038
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru...	OMIM:617156
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph...	ORPHA:169160
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration, Cryoglobulinemia	OMIM:123550
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Osteopenia, Increased circulating ferritin ...	ORPHA:77259
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Spasticity, Leukopenia, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Neutrope...	OMIM:616271
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Resting tremor, Bradykinesia, Tremor, Babinski sign, Par...	OMIM:300055
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia	OMIM:617475
Sandhoff Disease, Infantile Form	Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Myoclonus, Exaggerated startle res...	ORPHA:309155
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait	OMIM:616795
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Abnormal optic nerve morphology, Tremor, Babinski sign, Reduced bone mineral ...	ORPHA:83629
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Iron deficiency anemia, Decreased HDL cholestero...	OMIM:618885
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Sideroblastic anemia, Tremor, Megaloblastic anemia, Thromb...	OMIM:222300
Liver Disease, Severe Congenital	Aminoaciduria, Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Hypo...	OMIM:619991
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia	ORPHA:1170
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Spasticity	OMIM:617729
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Infantile Nephropathic Cystinosis	Aminoaciduria, Pigmentary retinopathy, Rickets, Hypokalemia, Hypophosphatemia, Abnormal blood ion...	ORPHA:411629
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Brain Dopamine-Serotonin Vesicular Transport Disease	Oculogyric crisis, Spastic tetraparesis, Abnormality of coordination, Limb dystonia, Tremor, Park...	ORPHA:352649
Methylmalonic Aciduria, Cblb Type	Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Elevated ci...	OMIM:251110
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Coronal craniosynostosis	OMIM:235510
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycinemia, Myoclonus, Ankle clonus, Thrombocytopenia, Exaggerated startle response, Hyperto...	OMIM:620423
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Classic Phenylketonuria	Hemiplegia, Paraplegia, Tremor, Hyperphenylalaninemia, Hypertonia	ORPHA:79254
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Tremor, Hypertensive retinopathy, Vocal cord paralysis, Hypercalcemia	ORPHA:29072
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Normocytic anemia, Choroidal neovascularization, Chorioretinal scar, Macular edema...	ORPHA:91500
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Abnormal circulating crea...	ORPHA:199351
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Babinski sign, Limb hypertonia, Limb ...	OMIM:608643
Pelizaeus-Merzbacher Disease	Ataxia, Spastic paraplegia, Optic atrophy, Generalized dystonia, Intention tremor, Tremor, Progre...	OMIM:312080
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc...	ORPHA:2169
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
22Q11.2 Deletion Syndrome	Optic atrophy, Abnormality of thrombocytes, Impaired T cell function, Multiple suture craniosynos...	ORPHA:567
Aapoaiv Amyloidosis	Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Reduced circulating complement concentration, Hyperlipidemia	ORPHA:567546
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:616100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po...	OMIM:304790
Primary Sclerosing Cholangitis	Hypoalbuminemia, Osteopenia, Hepatosplenomegaly, Splenomegaly, Polyclonal elevation of IgM, Osteo...	ORPHA:171
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Tremor, Parkinsonism, Frequent falls, Mildly elevated creatine kinase	ORPHA:329478
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Pigmentary retinopathy, Decreased circulating carnitine...	OMIM:219800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Methylmalonic acidemia	OMIM:251000
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level, Splenomegaly, Increased to...	ORPHA:2137
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Igg4-Related Pachymeningitis	Abnormal optic nerve morphology, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449427
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Cystathioninuria, Elevated circulating propionylcarnitine conce...	OMIM:277380
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono...	ORPHA:486
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Hyperekplexia-Epilepsy Syndrome	Hypertonia, Exaggerated startle response	ORPHA:163985
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Splenomegaly, Tremor, Decreased serum zinc, Ataxia	OMIM:201100
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Abnormal pyramidal...	OMIM:614381
Sézary Syndrome	Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Splenomegaly, Tremor	ORPHA:3162
Gm2-Gangliosidosis, Ab Variant	Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle...	OMIM:272750
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Hereditary Amyloidosis With Primary Renal Involvement	Elevated circulating creatinine concentration, Hepatosplenomegaly, Decreased circulating apolipop...	ORPHA:85450
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Spasticity, Bone marrow hypocellularity, Osteopenia, Hemiplegia, Tremor, Abnormali...	OMIM:612199
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star...	OMIM:618056
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Spasticity, Intraalveolar phospholipid accumulation, Increased circulating IgE level, Leukocytosi...	OMIM:620565
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Paralysis, Iron deficiency anemia	ORPHA:358
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Increased LDL cholesterol concentration, Hepat...	ORPHA:470
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick...	ORPHA:289176
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Pigmentary retinopathy, Tremor, Elevated circulating creatine kinase concentration	ORPHA:79095
Japanese Encephalitis	Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu...	ORPHA:79139
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Gait ataxia, Hypercalcemia, Tremor	ORPHA:476126
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Limb ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase conc...	OMIM:617675
Dopamine Beta-Hydroxylase Deficiency	Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Spasticity, Chorea, Hypertonia, Exaggerated startle response, Spastic tetraplegia, Optic nerve hy...	OMIM:617864
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:436159
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Torticollis, Writer's cramp, Torsion ...	OMIM:128100
Tetanus	Tremor, Rigidity, Elevated circulating creatine kinase concentration, Opisthotonus, Hypertonia, S...	ORPHA:3299
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Anemia, Refractory anemia	ORPHA:79076
Dyskeratosis Congenita, Autosomal Dominant 3	Ataxia, Bone marrow hypocellularity, Osteopenia, Aplastic anemia, Pancytopenia, Leukopenia, Macro...	OMIM:613990
Cranioectodermal Dysplasia 1	Osteoporosis, Sagittal craniosynostosis, Hypocalcemia, Retinal dystrophy	OMIM:218330
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia	ORPHA:97289
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ...	ORPHA:1830
Gaucher Disease	Cherry red spot of the macula, Pancytopenia, Increased circulating antibody level, Polyclonal ele...	ORPHA:355
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Increased circulating IgE level, Elevated circulating cr...	ORPHA:449395
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Myoclonus, Gait ataxia, Appendicular spasticity, Hyperprolinemia, Hyperalaninemia,...	OMIM:620451
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Spasticity, Microcytic anemia, Elevated circulating creatine kinase concentration,...	OMIM:251900
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Dent Disease	Renal hypophosphatemia, Delayed epiphyseal ossification, Aminoaciduria, Rickets, Osteomalacia, Sp...	ORPHA:1652
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mildly elevated creatine kinase, Tremor	ORPHA:397744
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Spinocerebellar Ataxia Type 21	Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell...	ORPHA:98773
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Spinocerebellar Ataxia Type 27	Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia	ORPHA:98764
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Hyperekplexia 2	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614619
Hyperekplexia 3	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614618
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Myoclonus, An...	OMIM:618278
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Hyperlysinemia	Hypoornithinemia, Hyperlysinuria, Poor motor coordination, Hyperammonemia, Tremor, Dysmetria, Nec...	ORPHA:2203
Sandhoff Disease	Spasticity, Fasciculations, Cherry red spot of the macula, Hepatosplenomegaly, Ataxia, Upper moto...	OMIM:268800
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Homocystinuria, Pigmentary retinopathy, Cystathioninemia, Cystathioninuria, Tremor, Hypomethionin...	OMIM:277400
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut...	OMIM:614700
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Hypopigmentation of the fundus, Ocular albinis...	OMIM:242840
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Tay-Sachs Disease	Cherry red spot of the macula, Hypertonia, Exaggerated startle response	OMIM:272800
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Primary Fanconi Renotubular Syndrome	Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Osteomala...	ORPHA:3337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Elevated circulating creatine kinase concentration, Retinal detachment, Exaggerate...	OMIM:253800
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Optic atrophy, Spasticity, Pigmentary retinopathy, Bradykinesia, Acanthocytosis, T...	OMIM:234200
Hyperekplexia 1	Frequent falls, Myoclonus, Hypertonia, Exaggerated startle response	OMIM:149400
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal...	OMIM:137440
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Acute Adrenal Insufficiency	Normocytic anemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulatin...	ORPHA:95409
Developmental And Epileptic Encephalopathy 8	Hypertonia, Exaggerated startle response	OMIM:300607
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:300894
Leigh Syndrome	Generalized aminoaciduria, Spasticity, Involuntary movements, Optic atrophy, Abnormal optic nerve...	ORPHA:506
Asparagine Synthetase Deficiency	Hypoasparaginemia, Tremor, Clonus, Limb hypertonia, Hypertonia, Exaggerated startle response, Spa...	OMIM:615574
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Schimke Immunoosseous Dysplasia	Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level,...	OMIM:242900
X-Linked Hypophosphatemia	Rickets, Tooth abscess, Hypophosphatemia, Generalized osteosclerosis, Craniosynostosis, Reduced b...	ORPHA:89936
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia	OMIM:614520
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hyperammonemia, Hyperalaninemia, Neutropenia, Ataxia, Dystonia, Choreoathetosis	OMIM:615471
Addison Disease	Normocytic anemia, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia, General...	ORPHA:85138
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Progressive extrapyramidal muscular rigidity, Bradykinesia, Axial dystonia, Tremor...	ORPHA:240071
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Bone marrow hypocellularity, Osteopenia, Aplastic anemia, Incr...	ORPHA:811
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Elevated circ...	ORPHA:79282
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Say-Barber-Miller Syndrome	Optic atrophy, Decreased circulating IgG level, Spastic paraparesis, Macular degeneration, Transi...	ORPHA:3132
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Osteomalacia, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, C...	ORPHA:534
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Coronal craniosynostosis, Poly...	ORPHA:2968
Cohen Syndrome	Optic atrophy, Leukopenia, Bull's eye maculopathy, Chorioretinal dystrophy, Bone spicule pigmenta...	OMIM:216550
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Hypertonia, Neutropenia	OMIM:616395
Digeorge Syndrome	Impaired T cell function, Splenomegaly, Hypocalcemia, Hemiparesis, Hypoplasia of the thymus, Thro...	OMIM:188400
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Hypertriglycer...	OMIM:617591
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Fasciculations, Limb hypertonia, Tremor, Exaggerated startle response	OMIM:620327
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Decreased circulating IgA level, Hypertriglyceridemia, Decreased circulating total Ig...	ORPHA:369837
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neut...	ORPHA:47612
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypocholesterolemia, Epiphyseal stippling, Elevated circulating 7-dehydrocholest...	OMIM:270400
Stiff Person Spectrum Disorder	Rigidity, Exaggerated startle response	ORPHA:3198
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Spasticity, Myoclonus, Facial-lingual fasciculations, Spastic tetraplegia, Exagger...	OMIM:617281
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutrop...	OMIM:613989
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Dystonia, Hypocalcemia, Optic nerve hypoplasia	OMIM:620330
Raine Syndrome	Increased bone mineral density, Hypophosphatemia, Subperiosteal bone formation	OMIM:259775
Mercury Poisoning	Hypokalemia, Dystonia, Tremor	ORPHA:330021
Doors Syndrome	Optic atrophy, Sagittal craniosynostosis, Myoclonus, Thrombocytosis	ORPHA:79500
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hypona...	OMIM:610505
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia, Optic disc pallor	OMIM:618527
Trichothiodystrophy	Osteopenia, Spasticity, Macular degeneration, Increased mean corpuscular hemoglobin concentration...	ORPHA:33364
Crimean-Congo Hemorrhagic Fever	Fasciculations, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating creati...	ORPHA:99827
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia, Hypochromic microcytic anemia...	OMIM:302060
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Hyperbilirubinemia, Granuloma, Increased circulating IgM level	ORPHA:562639
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperprolinemia, Hypoglut...	ORPHA:3008
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Hyperbilirubinemia, Tremor, Increased serum bile ...	ORPHA:69665
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Clonus, Hypertonia, Exaggerated startle response	OMIM:617301
Necrotizing Enterocolitis	Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec...	OMIM:601495
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Clonus, Tremor, Elevated circulating creatine kinase concentration	OMIM:619424
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:256040
Triosephosphate Isomerase Deficiency	Normocytic anemia, Spasticity, Splenomegaly, Macrocytic anemia, Tremor, Optic disc pallor, Dyston...	OMIM:615512
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449432
Aspergillosis	Increased circulating IgE level, Eosinophilia, Neutropenia, Vitritis	ORPHA:1163
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia	OMIM:615387
Oligomeganephronia	Elevated circulating creatinine concentration, Optic disc coloboma	ORPHA:2260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Chorea, Tremor, Elevated circulating creatine kinase concentration, Hyperkinetic ...	OMIM:615356
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Spasticity, Dysdiadochokinesis, Tetraparesis, Gait ataxia, Action tre...	ORPHA:99027
Mhc Class Ii Deficiency 1	Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia	OMIM:209920
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Hermansky-Pudlak Syndrome 10	Dystonia, Splenomegaly, Neutropenia, Ocular albinism	OMIM:617050
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hype...	OMIM:601678
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Abnormal retinal morphology, Increas...	ORPHA:228123
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Hypophosphatemia, Hypercalcemia	ORPHA:99880
Glycogen Storage Disease Ib	Hyperlipidemia, Splenomegaly, Hyperuricemia, Lipemia retinalis, Neutropenia, Osteoporosis	OMIM:232220
Parkinson Disease, Late-Onset	Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:168600
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Tongue fasciculations, Exaggerated startle response	OMIM:608800
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Parathyroid Carcinoma	Osteoporosis, Hypophosphatemia, Hypercalcemia	ORPHA:143
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ...	OMIM:301000
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Leukocytosis, Splenomegaly, Anemia, Neutropeni...	ORPHA:90051
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal py...	OMIM:617527
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Hemolytic anemia, Hypocalcemia, Hypomagnesemia	OMIM:619503
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Abnormality of extrapyramidal motor function, Rigidity, Progressive spastic quadri...	ORPHA:521426
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Revesz Syndrome	Ataxia, Bone marrow hypocellularity, Aplastic anemia, Macrocytic anemia, Exudative retinopathy, H...	OMIM:268130
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia	OMIM:229600
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Osteopenia, Spasticity, Increased circulating ferritin concentration, Elevated c...	OMIM:619534
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia, Elevated circulating creatine kinase concentration	OMIM:604173
Charge Syndrome	Lymphopenia, Hypocalcemia, Retinal coloboma	OMIM:214800
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Decreased circulating IgA ...	OMIM:620376
Gm1 Gangliosidosis Type 1	Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Exaggerated startle response, Dece...	ORPHA:79255
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemi...	ORPHA:79284
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia, Ataxia	OMIM:620012
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Spondyloenchondrodysplasia With Immune Dysregulation	Spasticity, Lymphopenia, Sclerosis of skull base, T lymphocytopenia, Progressive spastic quadripl...	OMIM:607944
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Tremor, Babinski sign, Hypertonia, Elevated hemoglobin A1c	OMIM:616539
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Eosinophilia, Increased circulating interleukin 6 concentration, Splenomegaly	ORPHA:75565
Igg4-Related Ophthalmic Disease	Abnormal optic nerve morphology, Increased circulating IgE level, Increased circulating IgG4 leve...	ORPHA:449563
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Dystonia, Exaggerated startle response	ORPHA:438216
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Osteoporosis	OMIM:612562
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye...	OMIM:260400
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal optic nerve morphology, Increased circulating IgG4 level, Optic nerve compression, Incre...	ORPHA:79078
Parkinson Disease 20, Early-Onset	Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia	OMIM:615530
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production	OMIM:614900
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Reticulo...	OMIM:557000
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Vipoma	Hypokalemia, Hypercalcemia, Normochromic anemia	ORPHA:97282
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hyperostosis, Chr...	ORPHA:906
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia, Optic nerve hypoplasia	OMIM:609053
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Anemia, Neutropenia, Calcinosis...	ORPHA:2909
Sarcoidosis	Hypercalcemia, Leukopenia, Bone cyst, Increased T cell count, Eosinophilia, Thrombocytopenia, Ane...	ORPHA:797
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Whim Syndrome	Abnormal neutrophil morphology, Lymphopenia, Limb ataxia, Neutropenia, Decreased circulating anti...	ORPHA:51636
Glucagonoma	Hypercalcemia, Acanthocytosis, Normochromic anemia	ORPHA:97280
Pmm2-Cdg	Hypoalbuminemia, Osteopenia, Abnormality of coordination, Reduced thyroxin-binding globulin, Phot...	ORPHA:79318
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia	ORPHA:97283
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Involuntary movements, Osteopenia, Myoclonus, Osteoporo...	ORPHA:438213
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Johanson-Blizzard Syndrome	Splenomegaly, Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Williams Syndrome	Osteopenia, Spasticity, Involuntary movements, Abnormal circulating lipid concentration, Retinal ...	ORPHA:904
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Anemia, Neutropenia, Calcinosis...	ORPHA:221008
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia, Abno...	ORPHA:228119
3-Methylglutaconic Aciduria, Type Viii	Tremor, Clonus, Hypertonia, Neutropenia, Dystonia	OMIM:617248
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Kikuchi-Fujimoto Disease	Ataxia, Leukopenia, Splenomegaly, Anemia, Lymphocytosis, Neutropenia, Thrombocytopenia, Elevated ...	ORPHA:50918
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Lymphopenia, Hypertonia, Neutropenia, Anemia	OMIM:618460
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Anemia, Neutropenia, Calcinosis...	ORPHA:221016
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation, Neutropenia	ORPHA:193
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Neutropenia, Ataxia, Athetoi...	OMIM:617799
Ppoma	Hypercalcemia	ORPHA:97278
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Delayed ossification of carpal bones, Decreased circulating IgG level, Osteopenia, Neutropenia	OMIM:271510
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Neutropenia	OMIM:618005
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Grfoma	Hypercalcemia	ORPHA:97261
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227646
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Multiple Endocrine Neoplasia Type 1	Reduced bone mineral density, Hypercalcemia, Osteolysis	ORPHA:652
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Sotos Syndrome	Tremor, Craniosynostosis, Poor coordination, Acute lymphoblastic leukemia, Hypercalcemia	ORPHA:821
Hermansky-Pudlak Syndrome	Abnormality of thrombocytes, Abnormal optic nerve morphology, Neutropenia, Ocular albinism	ORPHA:79430
Williams-Beuren Syndrome	Osteopenia, Incoordination, Retinal arteriolar tortuosity, Vocal cord paralysis, Osteoporosis, Po...	OMIM:194050
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Hypertonia, Exaggerated startle response	OMIM:618367
Viss Syndrome	Increased circulating IgE level, Decreased circulating IgA level, Hypereosinophilia, Retinal deta...	OMIM:619472
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Zygomycosis	Brain abscess, Retinal arterial occlusion, Retinal detachment, Splenic abscess, Neutropenia, Oste...	ORPHA:73263
Aspartylglucosaminuria	Vacuolated lymphocytes, Spasticity, Aspartylglucosaminuria, Neutropenia	OMIM:208400
Sponastrime Dysplasia	Delayed epiphyseal ossification, Decreased circulating antibody level, Ivory epiphyses of the pha...	ORPHA:93357
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Clk1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Clk1.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Clk1^{tm1a(EUCOMM)Wtsi/Ics}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Clk1^{tm1a(EUCOMM)Wtsi_Ics}	PMC6671969
Regulation of influenza A virus mRNA splicing by CLK1.	Antiviral research (June 2019)	Clk1^{tm1a(EUCOMM)Wtsi}	31176694
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Clk1^{tm1a(EUCOMM)Wtsi/Ics}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Clk1^{tm1a(EUCOMM)Wtsi/Ics}	PMC5827107
A human genome-wide loss-of-function screen identifies effective chikungunya antiviral drugs.	Nature communications (May 2016)	Clk1^{tm1a(EUCOMM)Wtsi}	PMC4865845

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Clk1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Clk1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Clk1 MGI:107403

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Human diseases caused by Clk1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data