Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Mfng MGI:1095404

Gene Summary

Name:

MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms:

manic fringe

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 spine curvature	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	2.51×10^-05
hydrometra	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal ovary morphology	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased locomotor activity	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	8.47×10^-06
enlarged thymus	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
kyphosis	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	2.35×10^-06
abnormal heart morphology	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal uterus morphology	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal eye morphology	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal skin morphology	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased NK T cell number	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	4.47×10^-05
decreased startle reflex	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	7.06×10^-06
enlarged heart	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased exploration in new environment	Mfng^{em1(IMPC)Ccpcz}	HOM	Early adult	9.83×10^-15

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

View images

Human diseases caused by Mfng 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 Mfng (0 diseases)
Human diseases predicted to be associated with Mfng (970 diseases)

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

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

Disease	Matching phenotypes	Source
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc...	OMIM:308240
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Hypogonadism, Gait disturbance, Abnormality of the ovary	ORPHA:1875
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha...	OMIM:603552
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, El...	OMIM:615559
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S...	OMIM:620282
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:618944
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:603909
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Immunodeficiency 102	Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf...	OMIM:301082
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ...	OMIM:618986
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased...	ORPHA:98813
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Slc35A1-Cdg	Prolonged bleeding time, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Spastic Paraplegia 18B, Autosomal Recessive	Inability to walk, Kyphosis, Gait disturbance, Scoliosis	OMIM:611225
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Progressive psychomotor deterioration, Motor deteri...	ORPHA:796
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Horizontal Gaze Palsy With Progressive Scoliosis	Cognitive impairment, Kyphosis, Scoliosis, Short neck	ORPHA:2744
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Familial Isolated Dilated Cardiomyopathy	Elevated circulating creatine kinase concentration, Abnormality of neutrophils	ORPHA:154
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:601859
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat...	OMIM:619752
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc...	OMIM:301078
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Ethanolaminosis	Cardiomegaly	OMIM:227150
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Kyphoscoliosis, Cardiomegaly	OMIM:300886
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia	ORPHA:79477
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia	ORPHA:289916
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Anemia	ORPHA:79312
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Scoli...	OMIM:616756
Congenital Arthrogryposis With Anterior Horn Cell Disease	Dystonia, Short neck, Cryptorchidism, Kyphosis, Inability to walk, Scoliosis, Difficulty walking,...	OMIM:611890
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:618048
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating ferritin concen...	ORPHA:540
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101075
Spinocerebellar Ataxia 32	Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy	OMIM:613909
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at...	ORPHA:276183
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Scoliosis, Delayed puberty, Micropenis, Sch...	OMIM:301900
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa...	ORPHA:292
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Irritability, Dystonia, Neonatal death, Hypertrophic cardiomyopathy	OMIM:618237
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101078
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut...	OMIM:601495
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Kyphosis, Neonatal death, Short neck	OMIM:618393
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis	OMIM:300718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Broad-based gait, Kyphoscoliosis, Tremor, Abnormal fear-induced behavior, Irritab...	ORPHA:3077
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Second...	ORPHA:3085
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L...	ORPHA:277
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia	OMIM:251000
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,...	ORPHA:1354
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul...	OMIM:209950
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia	ORPHA:100024
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis	ORPHA:1548
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Difficulty walking, Scoliosis	OMIM:617087
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ...	OMIM:616005
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, Scoliosis	OMIM:617404
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia	OMIM:601457
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Anemia, Agammaglobulinemia, Hypocalcemia, Neutropenia, Thr...	ORPHA:47
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Hand tremor, Dementia, Infertility, Scoliosis, Head tremor, Mental deterioration, Upper...	OMIM:614409
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Ataxia, Kyphosis, Dysmetria, Scoliosis, Abnormality of the cervica...	ORPHA:48431
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Anemia	OMIM:606054
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi...	OMIM:304790
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251110
Satoyoshi Syndrome	Hyperlordosis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,...	ORPHA:3130
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural...	OMIM:608233
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci...	OMIM:619510
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,...	OMIM:251900
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Ataxia, Attention deficit hyperactivity disorder	OMIM:620007
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Cryptorchidism	OMIM:618512
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Ky...	OMIM:300280
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, M...	ORPHA:3226
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitr...	ORPHA:324410
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le...	OMIM:617099
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ...	ORPHA:507
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hyperammonemia, Neutropenia	OMIM:618253
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Attention deficit hyperactivity d...	ORPHA:352490
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Hypogonadism, Delayed puberty, Emotio...	OMIM:300354
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Broad-based gait, Hyperlordosis, Kyphosis, Steppage gait, Tip-toe gait, Scoliosis	OMIM:615290
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Hyperlipidemia, Decre...	ORPHA:1830
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Gait disturbance, Cognitive impairment, Dystonia	OMIM:614898
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:167
Agammaglobulinemia, X-Linked	Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea...	OMIM:300755
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Ataxia, Progressive neurologic deterioration, Kyphosis, Gait disturbance, Scoliosis	ORPHA:85317
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Cryptorchidism, Attention deficit hyperactivity disorder, Shawl scrotum, Micropenis, De...	OMIM:615433
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Neutropenia	OMIM:616395
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Cognitive impairment, Thrombocytopenia	ORPHA:858
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I...	OMIM:615816
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Inability to walk, Kyph...	OMIM:128100
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Increased serum serotonin	ORPHA:85288
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos...	OMIM:235200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Hypoalbuminemia, Bone marrow h...	OMIM:617303
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Hypoplasia of the uterus, Leukopenia, Anemia, Bone ma...	OMIM:619151
Gm1-Gangliosidosis, Type Iii	Dystonia, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Congenital Myopathy 8	Scoliosis, Cardiomegaly	OMIM:618654
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia	OMIM:604173
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:99014
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Lumbar hyperlordosis, Falls, Difficulty walking,...	ORPHA:3198
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased...	OMIM:603553
Kennedy Disease	Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula...	ORPHA:481
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis, Depression	ORPHA:276630
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul...	OMIM:242900
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyperhomocystinemia...	OMIM:277380
Cdkl5-Deficiency Disorder	Kyphosis, Difficulty walking, Gait disturbance, Scoliosis	ORPHA:505652
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251100
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Masa Syndrome	Kyphosis, Shuffling gait, Hyperlordosis	OMIM:303350
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Kyphosis, Scoliosis, Short neck	ORPHA:178148
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Bradykinesia, Scoliosis, Dystonia	OMIM:617435
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Felty Syndrome	Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte morphology, T...	ORPHA:47612
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE...	ORPHA:37042
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Kyphosis, Scoliosis, Delayed puberty	ORPHA:2598
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Sialidosis Type 2	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis	ORPHA:87876
Vici Syndrome	Decreased circulating IgG level, Elevated circulating creatine kinase concentration, Decreased ci...	OMIM:242840
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Ovoid thoracolumb...	OMIM:252920
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Prolonged prothrombin time, Microangiopathic hemol...	ORPHA:2330
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N...	ORPHA:432
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Tremor...	OMIM:222300
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,...	ORPHA:79284
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Activated Pi3K-Delta Syndrome	Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ...	ORPHA:397596
Saccharopinuria	Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull...	ORPHA:3124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia...	OMIM:102700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor...	ORPHA:2311
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop...	OMIM:613989
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Ataxia, Kyphosis, Unsteady gait, Scoliosis, Loss of ambulation	OMIM:618124
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia	OMIM:616271
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis	OMIM:618392
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism	OMIM:618484
Winchester Syndrome	Kyphosis	OMIM:277950
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Decreased fertility	OMIM:313200
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Müllerian Aplasia And Hyperandrogenism	Short neck, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abn...	ORPHA:247768
Aspergillosis	Increased circulating IgE level, Eosinophilia, Neutropenia	ORPHA:1163
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism	ORPHA:2617
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Splenomega...	ORPHA:90051
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Gait disturbance, Scoliosis	ORPHA:2429
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Dilate...	OMIM:615084
Mcdonough Syndrome	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:2471
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Dystonia, Ovoid vertebral bodies, Car...	OMIM:230000
Shwachman-Diamond Syndrome 2	Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia	OMIM:617941
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Dystonia, Ataxia, Puberty and gonadal disorders, Kyphosis, Unsteady gait, Scoliosi...	ORPHA:464282
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Gm1 Gangliosidosis	Generalized dystonia, Ventricular septal defect, Ataxia, Hyperlordosis, Tremor, Kyphosis, Splenom...	ORPHA:354
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis	OMIM:610743
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Atypical Rett Syndrome	Tremor, Kyphosis, Inability to walk, Gait ataxia, Pill-rolling tremor, Gait disturbance, Scoliosi...	ORPHA:3095
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Hypoplasia ...	OMIM:305400
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Infantile Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:269920
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop...	OMIM:602450
Ck Syndrome	Kyphosis, Irritability, Scoliosis, Hyperlordosis	OMIM:300831
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr...	OMIM:256550
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia	ORPHA:445038
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Cowden Syndrome 1	Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scolio...	OMIM:158350
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Scoliosis, Cryptorchidism	OMIM:619797
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Becker Nevus Syndrome	Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ...	ORPHA:64755
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Hypertrophic cardiomyopathy, Scoliosis, Hepatomegaly	OMIM:618234
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Trisomy 13	Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Cognitive impairment, Atrial sept...	ORPHA:3378
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Acquired Purpura Fulminans	Thrombocytopenia, Prolonged prothrombin time, Elevated circulating C-reactive protein concentration	ORPHA:49566
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Prolonged prothrombin time, Hypoalbumi...	ORPHA:64743
Cowden Syndrome 5	Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom...	OMIM:615108
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly,...	ORPHA:465508
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ...	ORPHA:2232
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Mental deterioration, Hypertr...	OMIM:619051
Ruvalcaba Syndrome	Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism	OMIM:180870
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis	OMIM:615761
Cowden Syndrome 6	Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom...	OMIM:615109
Genitopalatocardiac Syndrome	Hypospadias, Kyphosis, Cryptorchidism, Male pseudohermaphroditism, Abnormal cardiac septum morpho...	ORPHA:2075
Mogs-Cdg	Atrial septal defect, Thoracic scoliosis, Hepatomegaly, External genital hypoplasia, Cardiomegaly...	ORPHA:79330
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr...	OMIM:308750
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Confusion, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Lethargy, Hype...	OMIM:212140
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Limb dystonia	ORPHA:319199
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous...	OMIM:608800
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte...	ORPHA:2522
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Scoliosis	OMIM:300602
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Abnormal cardiac septum morphology, Aplasia of the uterus, Scoliosis, T...	ORPHA:3320
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S...	ORPHA:352447
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Unsteady gait, Ataxia, Scoliosis	OMIM:300861
Wiskott-Aldrich Syndrome	Hemolytic anemia, Prolonged bleeding time, Abnormal eosinophil morphology, Microcytic anemia, Thr...	ORPHA:906
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hyperalaninemia, Hyperammonemia, Neutropenia	OMIM:615471
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Atrial septal defect, Lethargy, ...	ORPHA:398069
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia	OMIM:609053
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Baralle-Macken Syndrome	Inability to walk, Kyphosis, Dystonia	OMIM:619255
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Cu...	OMIM:239850
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Kyphosis, Exaggerated startle response, Scoliosis	OMIM:609541
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Lumbar hyperlordosis, Opisthotonus, Depression, ...	OMIM:184850
Sialidosis Type 1	Ataxia, Tremor, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbance, ...	ORPHA:812
Schaaf-Yang Syndrome	Kyphosis, Cryptorchidism, Inability to walk, Hypogonadism, Scoliosis, Micropenis	OMIM:615547
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Vacuolated lym...	OMIM:230500
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-toe gait, S...	OMIM:607155
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Oculogyric crisis, Akinesia, Kyphosis, Depression, Bradykinesia, Tr...	ORPHA:97349
15Q24 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Abn...	ORPHA:94065
Cardiac-Urogenital Syndrome	Bifid scrotum, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hyposp...	OMIM:618280
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Progressive psychomotor deterio...	OMIM:268800
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Cardiomegaly, Short...	OMIM:617022
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Cockayne Syndrome Type 2	Hepatomegaly, Ataxia, Kyphosis, Cryptorchidism, Gait disturbance, Scoliosis, Difficulty walking, ...	ORPHA:90322
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se...	OMIM:608776
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Cardiomegaly, Tremor, Limb ataxia, Cardiomyopathy, Impotence, Dementia, Trunca...	OMIM:105210
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Marinesco-Sjogren Syndrome	Ataxia, Hypergonadotropic hypogonadism, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis	OMIM:248800
Flynn-Aird Syndrome	Ataxia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Dementia, Type...	ORPHA:2047
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism	ORPHA:3409
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Diabetes mellitus, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism	OMIM:615381
3C Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Adrenal hypoplasia, Short neck, Abno...	ORPHA:7
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis	ORPHA:75840
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert...	ORPHA:3109
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Lethargy, Cardiomegaly	OMIM:619064
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Hypoplastic labia majora, Lumbar scoliosis, Scoliosis	OMIM:609128
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Abnormality of the vertebral column, Bicornuate uterus	OMIM:601076
Alpha-Mannosidosis	Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Type II diabetes mellitus, Scoliosis	ORPHA:61
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Mental deterioration, De...	OMIM:219080
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia	ORPHA:99927
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut...	OMIM:557000
Alpha-N-Acetylgalactosaminidase Deficiency	Scoliosis, Cardiomegaly	ORPHA:3137
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis	OMIM:252605
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Attrv122I Amyloidosis	Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven...	ORPHA:85451
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Attent...	ORPHA:404440
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Depression, Cardiomyopathy, Gait d...	OMIM:619259
Attrv30M Amyloidosis	Cardiomyopathy, Impotence, Cardiomegaly	ORPHA:85447
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies, Cognitive impairment, Pulmonic stenosis	ORPHA:3098
Alg1-Cdg	Kyphosis, Abnormal heart morphology, Scoliosis, Cardiomyopathy	ORPHA:79327
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Precocious puberty, Inability to walk, Tremor...	ORPHA:845
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Pulmonic stenosis, Atrioventricula...	OMIM:619123
Whim Syndrome	Decreased circulating antibody level, Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Prolonged prothrombin time, Dec...	ORPHA:99901
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Cardiomegaly, Short neck, Hypertrophic cardiomyopathy, Pl...	OMIM:616897
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrh...	OMIM:157640
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Seckel Syndrome 7	Hypoplasia of the uterus, Lumbar scoliosis, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Mucopolysaccharidosis, Type Iva	Waddling gait, Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordos...	OMIM:253000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Lethargy, Cardiomegaly	OMIM:600649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty walking	OMIM:606612
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Proteus-Like Syndrome	Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Hyperuricemia, Neutropenia	OMIM:232220
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta	ORPHA:2983
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Meacham Syndrome	Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Cry...	ORPHA:3097
Diastrophic Dysplasia	Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ...	ORPHA:628
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Cogn...	ORPHA:583
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Kyphosis, Dystonia, Gait ataxia	ORPHA:500180
Srd5A3-Cdg	Ataxia, Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnor...	ORPHA:324737
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:36238
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Cryptorchidism, Atrial septal defect, Patent foramen ovale	OMIM:620327
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Emanuel Syndrome	Sacral dimple, Torticollis, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Kyphos...	OMIM:609029
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom...	OMIM:300967
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Pericardial ...	ORPHA:77259
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat...	ORPHA:582
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly	OMIM:614702
Myopathy, Centronuclear, 2	Waddling gait, Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Subaortic Stenosis-Short Stature Syndrome	Short neck, Kyphosis, Membranous subvalvular aortic stenosis, Type II diabetes mellitus, Scoliosi...	ORPHA:3191
Myofibrillar Myopathy 10	Left ventricular hypertrophy, Kyphosis	OMIM:619040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Secundum atrial septal defect, Kyphosis, Cryptorchidism, Scoliosis, Leukemi...	OMIM:619951
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Emotional lability, Ch...	OMIM:608643
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-t...	ORPHA:98855
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,...	ORPHA:2916
19P13.12 Microdeletion Syndrome	Hypospadias, Ventricular septal defect, Short neck, Precocious puberty, Kyphosis, Cryptorchidism,...	ORPHA:254346
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck	ORPHA:3082
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Tip-toe gait, Gai...	ORPHA:98863
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a...	OMIM:300942
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-t...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Tip-t...	ORPHA:98853
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia	ORPHA:228119
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Broad-based gait, Short neck, Tremor, Kyphosis, Hypogonadism, Scoliosis, Dec...	ORPHA:85293
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Ataxia, Cardiomegaly, Cryptorchidism, Inability to walk, Gait disturbance, Scoliosis	OMIM:618143
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Dysmetria, Rectovaginal fistula, Dystonia, Lymphopenia, Intent...	OMIM:619708
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu...	OMIM:601186
Hsd10 Disease, Infantile Type	Cardiomegaly, Choreoathetosis, Dystonia, Loss of ambulation, Hypertrophic cardiomyopathy	ORPHA:391428
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Hemivertebrae, Aplasia ...	OMIM:271520
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre...	ORPHA:3464
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperammonemia, Elevated circula...	ORPHA:79282
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia	OMIM:618165
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia...	ORPHA:50918
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
Rett Syndrome	Dystonia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Motor deterioration	OMIM:312750
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Marden-Walker Syndrome	Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Micropenis	OMIM:248700
Bardet-Biedl Syndrome 1	Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism...	OMIM:209900
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Akinesia, Cardiomegaly, Progressive neurologic deterioration, Splenomegaly, Hepatos...	OMIM:608013
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Autosomal Recessive Ataxia, Beauce Type	Short attention span, Ataxia, Kyphosis, Dysmetria, Gait disturbance, Arm dystonia, Scoliosis	ORPHA:88644
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Ruvalcaba Syndrome	Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology	ORPHA:3121
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Scoliosis	OMIM:615834
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ataxia, Lethargy, Cardiomegaly	ORPHA:42
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level	ORPHA:35706
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis	ORPHA:536516
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Difficulty walking, Exaggerated startle response, Scoliosis	ORPHA:320406
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Kyphosis	OMIM:618138
Leigh Syndrome	Hyperalaninemia, Anemia, Neutropenia	ORPHA:506
Noonan Syndrome 14	Short neck, Cryptorchidism, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card...	OMIM:619745
Jaberi-Elahi Syndrome	Broad-based gait, Tremor, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis, S...	OMIM:617988
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased...	OMIM:617718
Pelizaeus-Merzbacher Disease	Ataxia, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis, Dystonia	ORPHA:702
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta	OMIM:617466
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse	ORPHA:137834
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis	ORPHA:816
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri...	OMIM:603903
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok...	ORPHA:699
Thanatophoric Dysplasia Type 2	Atrial septal defect, Kyphosis, Platyspondyly, Cognitive impairment	ORPHA:93274
Alg12-Cdg	Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib...	ORPHA:79324
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Weismann-Netter Syndrome	Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Anemia	ORPHA:3344
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Dysplastic sacrum, Severe platyspondyly, Short neck	OMIM:613320
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Trisomy 20P	Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebr...	ORPHA:261318
Lateral Meningocele Syndrome	Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ...	ORPHA:2789
Alstrom Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:203800
Developmental Malformations-Deafness-Dystonia Syndrome	Mental deterioration, Kyphosis, Generalized dystonia, Scoliosis	ORPHA:79107
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration	OMIM:612852
Crisponi Syndrome	Cognitive impairment, Kyphosis, Scoliosis	ORPHA:1545
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Hypocalcemia, Anemia, Neutropenia	ORPHA:175
Fucosidosis	Hepatomegaly, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Hypothyroidism	ORPHA:349
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unstea...	OMIM:618443
Rothmund-Thomson Syndrome	Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:2909
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/b...	OMIM:301040
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Prolonged prothrombin time, Elevated circulating a...	OMIM:617049
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Kyphosis, Splenomegaly, Unsteady ...	OMIM:615512
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Decreased circ...	ORPHA:293978
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Atax...	OMIM:212065
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Kyphosis, Hypoplastic labia minora, Clitoral hypoplasia, Sco...	ORPHA:2510
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Spinal rigidity, Cardiomegaly, Inability to walk, Hyperlordosis, Tip-toe gait, Right ventricular ...	ORPHA:268
Koolen-De Vries Syndrome	Vertebral fusion, Hypospadias, Bicuspid aortic valve, Kyphosis, Cryptorchidism, Vertebral segment...	ORPHA:96169
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227646
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
4Q21 Microdeletion Syndrome	Tremor, Kyphosis, Scoliosis, Short neck	ORPHA:238750
Distal Triplication 15Q	Abnormal external genitalia, Kyphosis, Abnormal heart morphology, Hydrocele testis, Scoliosis, At...	ORPHA:314588
Harrod Syndrome	Kyphosis, Hypospadias, Scoliosis, Cryptorchidism	ORPHA:2115
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpu...	ORPHA:261250
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Scapuloperoneal Spinal Muscular Atrophy	Broad-based gait, Torticollis, Hyperlordosis, Kyphosis, Scoliosis	OMIM:181405
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Cryptorchidism, Hypogonadism, Gait disturbance, Scoliosis, Attention deficit hyperactiv...	ORPHA:500055
Holt-Oram Syndrome	Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S...	ORPHA:392
Rothmund-Thomson Syndrome Type 1	Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221008
Trichothiodystrophy	Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia	ORPHA:33364
Khan-Khan-Katsanis Syndrome	Lymphopenia, Anemia, Neutropenia	OMIM:618460
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis	OMIM:609008
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Cognitive impairment, Kyphosis, Scoliosis	ORPHA:1883
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Thanatophoric Dysplasia	Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Anemia, Cardiomegaly	OMIM:618838
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Oeis Complex	Absence of the sacrum, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Sac...	OMIM:258040
Cohen Syndrome	Neutropenia	ORPHA:193
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Enlarged kidney	OMIM:618272
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Kyphosis, Ventricular septal defect, Paroxysmal dystonia	OMIM:619909
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ventricular septal defect, Tremor, Kyphosis, Scoliosis, Attention deficit hyperactivity disorder,...	OMIM:617061
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor...	OMIM:253220
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve...	ORPHA:1724
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve...	ORPHA:958
Rothmund-Thomson Syndrome Type 2	Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221016
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Ventricular septal defect, Kyphosis, Scoliosis, Atrial septal defect, Clitoral hyper...	OMIM:616449
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Micropenis, Scoliosis, Cryptorchidism	ORPHA:364028
Prader-Willi Syndrome	Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:176270
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Typical Nemaline Myopathy	Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Gait disturbance, Scoliosis	ORPHA:171436
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Lesch-Nyhan Syndrome	Megaloblastic anemia, Opisthotonus, Choreoathetosis, Dystonia, Testicular atrophy	OMIM:300322
Alexander Disease	Diabetes mellitus, Ataxia, Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Tremor, Depre...	ORPHA:58
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Lethargy, Cardiomegaly	OMIM:255120
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Cantú Syndrome	Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ...	ORPHA:1517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Spinal rigidity, Dilated cardiomyopathy, Myocardial fibrosis, Trans...	OMIM:253800
Glycogen Storage Disease Ic	Cyclic neutropenia, Hyperlipidemia, Hyperuricemia	OMIM:232240
Aicardi-Goutières Syndrome	Diabetes mellitus, Dystonia, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Tremor, Chronic ...	ORPHA:51
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Beck-Fahrner Syndrome	Depression, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly	OMIM:618798
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypospadias, Hypogonadotropic hypogonadism, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty,...	OMIM:619718
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis	ORPHA:88628
Lateral Meningocele Syndrome	Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Cryptor...	OMIM:130720
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ...	OMIM:253010
Hurler Syndrome	Hepatomegaly, Progressive neurologic deterioration, Short neck, Hypoplasia of the odontoid proces...	OMIM:607014
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Refsum Disease, Classic	Cardiomyopathy, Ataxia, Cardiomegaly	OMIM:266500
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect	OMIM:617602
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardiomyopathy, P...	ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Atrial septal defect, Broad-based gait, Exaggerated startle response, Bicuspid aortic valve, Vent...	ORPHA:438213
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia	ORPHA:309246
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Cardiomegaly	OMIM:201475
Sandhoff Disease, Infantile Form	Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly	ORPHA:309155
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Scoliosis, Dystonia	OMIM:314580
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
15Q14 Microdeletion Syndrome	Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis	ORPHA:261190
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, A...	ORPHA:79259
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Uterine leiomyoma, Platysp...	OMIM:616482
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Ataxia, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormali...	ORPHA:1328
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Attention ...	OMIM:619005
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Ataxia, Follicular thyroid carcinoma, Enlarged ...	ORPHA:201
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Stickler Syndrome, Type I	Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr...	OMIM:108300
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Short neck, Bone marrow hypocellularity, Aplasia of the uterus, Attention def...	OMIM:614083
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Kyphosis, Cryptorc...	OMIM:616894
2P15P16.1 Microdeletion Syndrome	Supernumerary nipple, Kyphosis, Hypogonadism, Gait disturbance, Scoliosis, Attention deficit hype...	ORPHA:261349
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Anemia, Abnormality of circulating enzyme level	ORPHA:93598
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Mucopolysaccharidosis Type 3	Hepatomegaly, Ataxia, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Abnormal ...	ORPHA:581
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Increased circulating ACTH level, Oligomenorrhea, Biconcave vertebra...	OMIM:219090
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response, Ataxia	OMIM:616881
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Difficulty walking, Cognitive impairme...	OMIM:618476
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Posterior pituitary hypoplasia,...	ORPHA:464311
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Broad-based gait, Ataxia, Kyphoscoliosis, Acanthocytosis, Cardiome...	ORPHA:14
Arthrogryposis, Distal, Type 5	Kyphosis, Scoliosis	OMIM:108145
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Kyphosis, Thoracic scoliosis, Ventricular septal defect	OMIM:603387
Atelis Syndrome 2	Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins...	OMIM:620185
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Cryp...	OMIM:610443
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
3M Syndrome	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility...	ORPHA:2616
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response, Irritability, Short attention span	OMIM:617864
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci...	OMIM:620005
Meckel Syndrome 14	Ambiguous genitalia, Single ventricle, Aplasia of the uterus, Short neck	OMIM:619879
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Hypoplasia of t...	OMIM:252500
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Neonatal death	OMIM:620351
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Glandular hypospadias, Cardiomegaly	OMIM:620306
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Wieacker-Wolff Syndrome, Female-Restricted	Inability to walk, Kyphosis, Scoliosis, Short neck	OMIM:301041
Pediatric-Onset Graves Disease	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia	ORPHA:525731
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo...	ORPHA:273
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Kyphosis, Complete atrioventricular canal defect, Gait ataxia, Scoliosis, Attention defic...	ORPHA:476126
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Unsteady gait, Inability to walk, Abnormal...	ORPHA:3063
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Ventricular septal defect, Kyphosis, Inability to walk, Male urethral meatus stenosi...	ORPHA:464738
Hurler-Scheie Syndrome	Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly	OMIM:607015
Hermansky-Pudlak Syndrome	Neutropenia	ORPHA:79430
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In...	OMIM:260920
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis, Cryptorchidism	OMIM:619244
Microphthalmia, Lenz Type	Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis	ORPHA:568
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder	OMIM:617914
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en...	ORPHA:3042
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Prominent coccy...	OMIM:300966
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Absence of labia majo...	OMIM:265000
Ogden Syndrome	Torticollis, Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Short neck, Cardi...	OMIM:300855
Satoyoshi Syndrome	Hypoplasia of the uterus, Amenorrhea	OMIM:600705
Ullrich Congenital Muscular Dystrophy 1	Kyphosis, Torticollis, Scoliosis, Spinal rigidity	OMIM:254090
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Hepatosplenome...	OMIM:309900
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepato...	OMIM:274000
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism	OMIM:617713
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Platyspondyly, Scoliosis,...	OMIM:245600
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Scoliosis, Aplasia of the uterus, Unicornuat...	OMIM:614527
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Coffin-Lowry Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal ao...	ORPHA:192
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro...	ORPHA:268261
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop...	OMIM:618419
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:618291
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit...	ORPHA:79329
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, S...	ORPHA:251014
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia	OMIM:618056
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Attention deficit hyperactivity disorder	ORPHA:261222
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Atrial septal defect, Scoliosis	OMIM:617190
Autosomal Recessive Robinow Syndrome	Sacral dimple, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog...	ORPHA:1507
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Cognitive impairm...	OMIM:300257
Pycnodysostosis	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:763
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Anterior pituitary hypoplasia, Ventricular septal defect, Kyphosis, Cryptorchidism, ...	ORPHA:464306
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Kyphosis, Gait imbalance, Scoliosis, Truncal ataxia	OMIM:211530
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s...	ORPHA:800
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Small scrotum, Scoliosis, Cryptorchidism	ORPHA:2215
Rett Syndrome, Congenital Variant	Kyphosis, Athetosis, Irritability, Scoliosis, Dystonia	OMIM:613454
Mucolipidosis Type Ii	Abnormal mitral valve morphology, Splenomegaly, Kyphosis, Inability to walk, Hepatosplenomegaly, ...	ORPHA:576
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Lethargy	ORPHA:137675
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Exaggerated startle response, Cognitive impairment, Congenital hypothyroidism	OMIM:617527
Phocomelia, Schinzel Type	Hypoplasia of penis, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Aplasia of the...	ORPHA:2879
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Pericardial effusion, Kypho...	ORPHA:536532
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Marden-Walker Syndrome	Abnormal penis morphology, Hypospadias, Ventricular septal defect, Dextrocardia, Situs inversus t...	ORPHA:2461
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Okamoto Syndrome	Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum...	ORPHA:2729
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Hyperlordosis, Inability to walk, Scoliosis, Difficulty walking, Left...	ORPHA:365
Thanatophoric Dysplasia Type 1	Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	ORPHA:228426
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial...	ORPHA:363958
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Tremor, Abnormal form of the vertebral ...	ORPHA:904
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lethargy, Enlarged kidney	OMIM:608836
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Short neck, Atrial septal defect, Hashimoto thyroiditis, Premature ovarian...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Short neck, Atrial septal defect, Hashimoto thyroiditis, Premature ovarian...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Short neck, Atrial septal defect, Hashimoto thyroiditis, Premature ovarian...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Short neck, Atrial septal defect, Hashimoto thyroiditis, Premature ovarian...	ORPHA:881
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Ventricular septal defect, Precoc...	OMIM:194190
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Cockayne Syndrome A	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis, Cryptorchidism, Irregular menstruation, Thy...	OMIM:216400
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ...	ORPHA:140
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Wolf-Hirschhorn Syndrome	Sacral dimple, Hypospadias, Abnormal heart valve morphology, Ataxia, Kyphosis, Cryptorchidism, Ab...	ORPHA:280
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc...	OMIM:130650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Autosomal Recessive Spastic Paraplegia Type 35	Generalized dystonia, Kyphosis, Dysmetria, Dysdiadochokinesis, Difficulty walking, Cognitive impa...	ORPHA:171629
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bifid scrotum, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Micr...	OMIM:619475
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circulating calcitonin concentrati...	OMIM:162300
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocele t...	OMIM:619522
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Lon...	ORPHA:744
Poland Syndrome	Diabetes mellitus, Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae...	ORPHA:2911
Zygomycosis	Brain abscess, Splenic abscess, Neutropenia	ORPHA:73263
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Hypoplasia of the uterus, Ch...	OMIM:309801
Aspartylglucosaminuria	Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutrope...	OMIM:208400
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:963
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Scoliosis	ORPHA:457284
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,...	ORPHA:1855
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:314769
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Marshall-Smith Syndrome	Thoracic scoliosis, Ventricular septal defect, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplas...	OMIM:602535
Monosomy 9Q22.3	Ovarian fibroma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column	ORPHA:77301
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular...	OMIM:236680
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormal heart valve morphology, Kyphosis, Cryptorchidism, Abno...	ORPHA:1606
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Ataxia, Hypothyroidism, Scoliosis	ORPHA:2479
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly	ORPHA:2463
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab...	ORPHA:3384
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Glycogen Storage Disease Ii	Hepatomegaly, Splenomegaly, Difficulty walking, Cardiomegaly	OMIM:232300
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Inability to walk, Kyphosis, Unsteady gait, Scoliosis	OMIM:618493
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega...	OMIM:614921
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty	OMIM:615866
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Cdags Syndrome	Kyphosis, Hypospadias, Rectovaginal fistula	OMIM:603116
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Exaggerated startle response, Dystonia	ORPHA:521426
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Cockayne Syndrome Type 3	Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, Kyphosis, Unsteady gait, Cardio...	ORPHA:90324
Cockayne Syndrome	Hepatomegaly, Diabetes mellitus, Ataxia, Splenomegaly, Kyphosis, Cryptorchidism, Inability to wal...	ORPHA:191
Coffin-Siris Syndrome 1	Sacral dimple, Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Tetralogy of Fal...	OMIM:135900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Waddling gait, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal...	OMIM:143095
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5t...	ORPHA:955
Mend Syndrome	Sacral dimple, Kyphosis, Cryptorchidism, Abnormal heart morphology, Aortic valve stenosis	ORPHA:401973
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Atrial septal defect, Pancreatic hy...	OMIM:619991
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Weaver Syndrome	Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism	OMIM:277590
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
Neurofibromatosis Type 1	Ataxia, Precocious puberty, Kyphosis, Cryptorchidism, Abnormality of the endocrine system, Chroni...	ORPHA:636
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis, Mitral valve prolapse	OMIM:177850
Limb-Mammary Syndrome	Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl...	ORPHA:69085
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte...	OMIM:201750
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Short neck, Ky...	ORPHA:818
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Alkaptonuria	Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification...	OMIM:203500
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc...	OMIM:251260
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Short neck, Cryptorchidism, Stillbirth, Transposition of...	OMIM:256520
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Frank-Ter Haar Syndrome	Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr...	OMIM:249420
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Bohring-Opitz Syndrome	Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology, Cholelithiasis, Annular panc...	ORPHA:97297
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Cockayne Syndrome B	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis, Cryptorchidism, Micropenis	OMIM:133540
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Kyphosis, Abnormal mitral valve morphology, Scoliosis	ORPHA:1969
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Splenomegaly, Hypothyroidi...	ORPHA:116
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Attention deficit hyperactivity disorder, Tip-toe gait, Scoliosis	OMIM:618050
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Kyphosis, Epispadias, Crypto...	ORPHA:2658
Asparagine Synthetase Deficiency	Tremor, Irritability, Exaggerated startle response	OMIM:615574
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Hypospadias	OMIM:609944
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Mend Syndrome	Kyphosis, Sacral dimple, Aortic valve stenosis, Cryptorchidism	OMIM:300960
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Scoliosis, Cardiomegaly	ORPHA:91387
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra...	OMIM:259770
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu...	ORPHA:99827
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Norrie Disease	Diabetes mellitus, Cryptorchidism, Irritability, Uterine rupture, Scoliosis, Delayed puberty, Ere...	ORPHA:649
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis	OMIM:619194
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C...	ORPHA:3472
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Mitral valve prolapse	OMIM:616914
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Elevated ci...	OMIM:256040
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Kyphosis, Cryptorchidism, Depression, Anemia, Azoospermia, Platyspondyly, Ab...	ORPHA:534
17Q11 Microdeletion Syndrome	Short attention span, Precocious puberty, Kyphosis, Glomus jugular tumor, Abnormal heart morpholo...	ORPHA:97685
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Pilonidal sinus, Small scrotum, Hypospadias, Short neck, Cryptorchidism, Hemivertebrae, Anteriorl...	OMIM:276820
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Gait ataxia, Difficulty walking, Micropenis	ORPHA:457359
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Mitral valve prolapse, Uterine rupture, Uterin...	OMIM:130050
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B...	OMIM:137920
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Ramon Syndrome	Kyphosis, Enlarged labia minora, Scoliosis	OMIM:266270
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Osteogenesis Imperfecta	Abnormal endocardium morphology, Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fract...	ORPHA:666
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Ventricular septal defect, Bifid uterus, Crypt...	OMIM:107480
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Peters Plus Syndrome	Sacral dimple, Hypospadias, Short neck, Cryptorchidism, Bicuspid pulmonary valve, Congenital hypo...	ORPHA:709
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Lymphedema-Distichiasis Syndrome	Kyphosis, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Loeys-Dietz Syndrome	Scoliosis, Uterine rupture	ORPHA:60030
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Sotos Syndrome	Sacrococcygeal teratoma, Hypospadias, Ventricular septal defect, Phimosis, Tremor, Kyphosis, Cryp...	ORPHA:821
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Zttk Syndrome	Absent gallbladder, Ventricular septal defect, Kyphosis, Hemivertebrae, Scoliosis, Atrial septal ...	OMIM:617140
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Ventricular septal defect, Short nec...	OMIM:261540
Pallister-Killian Syndrome	Sacral dimple, Small scrotum, Hypospadias, Ventricular septal defect, Kyphoscoliosis, Short neck,...	OMIM:601803
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Hypospadias	ORPHA:85199
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Dementia, Mental de...	ORPHA:2273
Classic Homocystinuria	Kyphosis, Scoliosis, Hepatomegaly	ORPHA:394
Marfan Syndrome	Mitral valve calcification, Kyphosis, Mitral valve prolapse, Scoliosis, Attention deficit hyperac...	ORPHA:558
Wrinkly Skin Syndrome	Kyphosis, Muscular ventricular septal defect, Cryptorchidism, Scoliosis, Atrial septal dilatation	OMIM:278250
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t...	ORPHA:64
Coffin-Lowry Syndrome	Uterine prolapse, Kyphosis, Scoliosis, Lumbar kyphosis	OMIM:303600
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca...	ORPHA:51608
Cerebrocostomandibular Syndrome	Kyphosis, Ventricular septal defect	ORPHA:1393
Vascular Ehlers-Danlos Syndrome	Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Mitral valve prolapse, C...	ORPHA:286
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Primrose Syndrome	Diabetes mellitus, Hypergonadotropic hypogonadism, Ataxia, Bilateral cryptorchidism, Kyphosis, Cr...	OMIM:259050
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis	OMIM:619482
Lowe Oculocerebrorenal Syndrome	Kyphosis, Platyspondyly, Scoliosis, Cryptorchidism	OMIM:309000
Singleton-Merten Syndrome 1	Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, S...	OMIM:182250
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response	OMIM:618367
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Stickler Syndrome	Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Mitral valve prolapse, Pl...	ORPHA:828
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Viss Syndrome	Ventricular septal defect, Coronary sinus enlargement, Kyphosis, Patent foramen ovale, Hypereosin...	OMIM:619472
Yunis-Varon Syndrome	Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Ventricular septal defect, ...	OMIM:216340
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:198
Occipital Horn Syndrome	Kyphosis, Platyspondyly	OMIM:304150
Branchiooculofacial Syndrome	Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Ectopic t...	OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106

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 Mfng

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 Mfng.

No publications found that use IMPC mice or data for Mfng.

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
Mfng^{tm40124(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mfng^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mfng^{em1(IMPC)Ccpcz}	Inter-exon deletion	Mice
Mfng^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Mfng MGI:1095404

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Mfng mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data