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Gene: Bub1b MGI:1333889

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
BUB1B, mitotic checkpoint serine/threonine kinase
Synonyms:
BUBR1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bub1b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Bub1b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Mosaic Variegated Aneuploidy Syndrome 1
Embryonal rhabdomyosarcoma, Cleft palate, Leukemia, Nephroblastoma, Duodenal atresia OMIM:257300
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Abnormal lung lobation,... ORPHA:1052
Premature Chromatid Separation Trait
OMIM:176430

The table below shows human diseases predicted to be associated to Bub1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... OMIM:153600
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Acid-Labile Subunit Deficiency
Insulin insensitivity, Mild postnatal growth retardation, Delayed puberty OMIM:615961
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma ORPHA:2023
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory... OMIM:614470
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... ORPHA:247798
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Short Stature Due To Partial Ghr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314802
Myeloproliferative Disorder, Chronic, With Eosinophilia
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder OMIM:131440
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Pituitary Hormone Deficiency, Combined, 4
Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia OMIM:262700
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Increase... OMIM:232700
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Short Stature Due To Ghsr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314811
Fanconi Anemia, Complementation Group G
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia OMIM:614082
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
N Syndrome
Leukemia, Neoplasm OMIM:310465
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia OMIM:252270
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Pulmonary fibros... OMIM:614743
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... ORPHA:296
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... OMIM:616871
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... ORPHA:98827
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... OMIM:613370
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia ORPHA:90026
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... OMIM:619824
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Bazex Syndrome
Anemia, Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... ORPHA:83469
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Meige Disease
Angiosarcoma, Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract... OMIM:616005
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... ORPHA:86841
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Proximal amyotrophy... OMIM:617404
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98855
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Myelodysplasia, Anemia of ... ORPHA:75564
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Anal a... OMIM:605724
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Usual interstitial pn... OMIM:614742
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Rhabdoid Tumor
Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla... ORPHA:69077
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Lymph... ORPHA:424016
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur... ORPHA:98863
Liposarcoma
Sarcoma ORPHA:69078
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair... OMIM:601399
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... OMIM:300853
Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98853
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Abnormal circulating enzyme concentration or activity, Short stature, Fasting hypog... ORPHA:171706
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Asbestos Intoxication
Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial mor... ORPHA:2302
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Wt Limb-Blood Syndrome
Thrombocytopenia, Leukemia, Hypoplastic anemia, Pancytopenia OMIM:194350
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Incr... OMIM:616852
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Growth d... OMIM:613027
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... OMIM:619042
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia ORPHA:3318
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne... OMIM:620389
Thymoma
Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Abnormal lymphocyte proliferat... ORPHA:99867
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis OMIM:620357
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersple... ORPHA:98850
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Pyknoachondrogenesis
Stillbirth OMIM:265880
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Increased connective tissu... OMIM:601954
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Bronchiectasis, Neoplas... ORPHA:662
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... ORPHA:280333
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... OMIM:620386
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... ORPHA:873
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc... OMIM:619151
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Chronic noninfect... ORPHA:100079
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... OMIM:255600
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Ataxia-Pancytopenia Syndrome
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... OMIM:159550
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Splenomeg... ORPHA:100025
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nucleated skeletal m... OMIM:617760
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Myelod... ORPHA:486
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Leukemia, Meningioma OMIM:602501
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Knee flex... OMIM:602484
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Atrophic scars, Scoliosis, Increased v... OMIM:616471
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Pleural effusion, Fibrosarcoma, Ascites ORPHA:314478
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent... OMIM:240500
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... ORPHA:363454
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... OMIM:300696
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Limb-girdle muscle we... ORPHA:352470
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Stiff Skin Syndrome
Cataract, Lipodystrophy, Short stature, Elbow flexion contracture, Knee flexion contracture, Camp... OMIM:184900
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Myelodysplasia, Inflammation of the large... ORPHA:48104
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Increased vari... OMIM:253601
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... ORPHA:98849
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... OMIM:619750
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Lipodystrophy, Hypertension, Myopathy, Muscular dy... OMIM:615980
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Lipoatrophy, Perineal hemangioma, Congestive heart failure, Midfronta... ORPHA:141184
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy ORPHA:157973
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... ORPHA:369
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism, Synophrys, Kyphosis, Aplasia/Hypoplasia of the abdominal... ORPHA:2471
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Hypoglycemia, Growth delay, Increased hepatic glycogen content OMIM:261750
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ... OMIM:619164
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Myasthenic Syndrome, Congenital, 14
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,... OMIM:611067
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair ORPHA:2574
Werner Syndrome
Skeletal muscle atrophy, Myocardial infarction, Squamous cell carcinoma, Neoplasm, Thyroid carcin... ORPHA:902
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia ORPHA:35
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... ORPHA:97244
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy ORPHA:86893
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Lymphadenopathy, Decreased ci... OMIM:618261
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertension, Lipodystrophy, Lipoatrophy OMIM:613877
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Retinoblastoma
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Short stature, Lipodystrophy, Kyphoscoliosis, Cryptorchidism, Flexion co... ORPHA:75496
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... OMIM:615290
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Flexion contracture, Scoliosis, Increased variability in muscle fiber diameter, ... OMIM:300717
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness OMIM:611225
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee flexion contract... OMIM:610687
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Abnormal stomach morphology, Acute leukemia ORPHA:281090
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90160
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Glycogen Storage Disease Ixa1
Growth delay, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase OMIM:306000
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Vasculitis in the ... ORPHA:90159
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Increased circulating IgE level, Squamous cell carci... ORPHA:217390
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Acute leukemia ORPHA:2770
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... OMIM:613913
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay OMIM:620211
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Diamond-Blackfan Anemia
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, Pure red cell aplasia, Erythroid hypop... ORPHA:124
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy, Cardiac shunt OMIM:305800
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy,... OMIM:160565
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Squamous cell carcinoma OMIM:613736
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy, Lipoatrophy ORPHA:154
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90157
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Elbow flexion contracture, ... ORPHA:206546
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Analbuminemia
Fatigue, Lipodystrophy, Hypotension OMIM:616000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Hypoglycemic seizures, Increased hepatic glycogen content, Neonatal hypo... ORPHA:293964
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Essential Fructosuria
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... ORPHA:2056
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatic fibrosis OMIM:232400
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hypoglycemia ORPHA:664
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle ... OMIM:609115
Myopathy, Distal, 1
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Ra... OMIM:160500
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hype... ORPHA:2089
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Renpenning Syndrome
Decreased testicular size, Abnormal hairshaft morphology, Alopecia, Severe short stature, Catarac... ORPHA:3242
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... OMIM:253700
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden... ORPHA:397596
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... OMIM:609308
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... OMIM:607088
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Hand muscle atrophy, Lumbar hyperlordosis, Short stature, Spondylolisthesis at L5... OMIM:600561
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic keto... OMIM:262190
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm ORPHA:172
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Type 1 muscle fiber predomina... OMIM:161800
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cataract, Lipodystrophy, Short stature, Posteri... OMIM:616200
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Congestive heart failur... ORPHA:2348
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Scoliosis, EMG: myo... OMIM:618524
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Immunodeficiency 54
Chromosome breakage, Short stature, Postnatal growth retardation, Intrauterine growth retardation... OMIM:609981
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Myelodysplasia ORPHA:721
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness o... OMIM:618484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion cont... OMIM:617114
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Lipoatrophy, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoli... ORPHA:2617
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Postnatal growth retardation, Short stature, Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis,... ORPHA:3085
Isolated Glycerol Kinase Deficiency
Short stature, Hyperlordosis, Cryptorchidism, Myopathy, Scoliosis ORPHA:408
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function OMIM:246900
Myopathic Ehlers-Danlos Syndrome
Exercise intolerance, Congenital muscular torticollis, Decreased muscle mass, Multiple joint cont... ORPHA:536516
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Lymphoma, Bronchiectasis, Hodg... OMIM:208900
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Reduced subcutaneous adipose tissue, Increased susceptibility to spontaneous sister chromatid exc... OMIM:618097
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Congenital Macroglossia
Macroglossia, Neurofibroma, Abnormal hepatic glycogen storage ORPHA:2430
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... ORPHA:62
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:617950
Aicardi Syndrome
Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Me... OMIM:304050
Fanconi Anemia, Complementation Group O
Chromosome breakage, Short stature, External genital hypoplasia, Cryptorchidism, Small thenar emi... OMIM:613390
Inclusion Body Myopathy And Brain White Matter Abnormalities
Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Centrally nucleated ske... OMIM:619733
Mucolipidosis Type Iii
Fatigue, Inguinal hernia, Corneal opacity, Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:577
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Malabsorption, Leukocytosis, Lymphoma, Lymphadenopathy, Acute leukemia ORPHA:99812
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Telangiectasia of the skin, Kyphosis... OMIM:615381
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure OMIM:616483
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis OMIM:168400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Lipodystrophy, Short stature, Generalized lipodystrophy OMIM:612526
Becker Nevus Syndrome
Hamartoma, Lipoatrophy, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle muscle atrophy ORPHA:64755
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Cataract, Cachexia, Kyphosis, Scoliosis ORPHA:2047
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... OMIM:167320
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Adrenocortical Carcinoma
Adrenocortical carcinoma, Lung adenocarcinoma ORPHA:1501
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function ORPHA:67048
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Intrauterine growth retardation, Short stature, Generalized lipodystrophy ORPHA:50811
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso... ORPHA:33226
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal... OMIM:301075
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, H... ORPHA:276580
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... OMIM:613818
Childhood-Onset Nemaline Myopathy
Exercise intolerance, Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle li... ORPHA:171439
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Short neck, Spinal rigidity, Kyphosis, Abnormal muscle fiber morphology, Flexion con... ORPHA:75840
Nijmegen Breakage Syndrome-Like Disorder
Growth delay, Short stature, Chromosomal breakage induced by ionizing radiation OMIM:613078
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Intrauterine growth re... OMIM:618958
Terminal Osseous Dysplasia
Fibroma, Cleft palate OMIM:300244
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism, S... OMIM:300624
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Acquired Partial Lipodystrophy
Myopathy, Arthralgia, Lipoatrophy ORPHA:79087
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spermatogenic Failure 17
Male infertility OMIM:617214
Myofibrillar Myopathy 11
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hy... OMIM:619178
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Short stature ORPHA:329249
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... ORPHA:40
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypogonadism, Limb muscle weakness, Iris hypopig... ORPHA:97229
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Exercise intolerance, Tachycardia, Atrial fibrillation, Lipodystrophy, Spi... OMIM:613327
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... ORPHA:790
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Tri... OMIM:135150
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Growth delay, Decreased 3-hyd... OMIM:231530
Endocardial Fibroelastosis
Cryptorchidism, Hypoglycemia ORPHA:2022
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Increased connective tissue ORPHA:238329
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Bloom Syndrome
Bronchitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Stomach cancer, Decreased ... ORPHA:125
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Caspase 8 Deficiency
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... OMIM:607271
Alg3-Cdg
Cataract, Lipodystrophy, Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita ORPHA:79321
Fanconi Anemia, Complementation Group S
Chromosome breakage, Short stature, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovar... OMIM:617883
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Scoliosis, Typ... OMIM:605637
Bloom Syndrome
Elevated hemoglobin A1c, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, ... OMIM:210900
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Keratitis, Scarring alopecia of scalp, Motheaten muscle fibers, Musc... OMIM:226670
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Short stature, Chromosomal breakage induced by crosslinking agents, Decreased ... OMIM:619060
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein throm... ORPHA:729
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... ORPHA:280365
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Lipase Deficiency, Combined
Lipodystrophy OMIM:246650
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... OMIM:613204
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Spinal rigidity, Centrally nucleated skel... OMIM:602771
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function OMIM:615160
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu... ORPHA:86812
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:617872
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy, Skeletal muscle atrophy OMIM:613723
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Acrogeria
Lipoatrophy, Short stature, Telangiectasia of the skin, Scoliosis ORPHA:2500
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Centrally nucleated skeletal ... OMIM:619518
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le... ORPHA:37748
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... OMIM:255320
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Lipodystro... ORPHA:435660
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Adiposis Dolorosa
Fatigue, Painful subcutaneous lipomas, Obesity, Chronic pain, Arthralgia OMIM:103200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Postnatal growth ret... OMIM:617093
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis OMIM:618323
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypoglycemia, Elev... OMIM:616026
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pudendal Neuralgia
Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm ORPHA:60039
Cowden Syndrome 1
Colonic diverticula, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyp... OMIM:158350
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... OMIM:620249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Achilles tendon contractur... ORPHA:353
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... OMIM:609054
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... OMIM:613254
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp... ORPHA:276608
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Increased variability in muscle... OMIM:611705
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Myalgi... ORPHA:171442
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Cataract, Small for gestational age, Kyphosis, Decreased body weight OMIM:618392
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy,... OMIM:613157
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of gluteal subcutaneous adipose... ORPHA:435651
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Infertility, Oligozoospermia OMIM:615703
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Ataxia-Telangiectasia
Skeletal muscle atrophy, Abnormality of chromosome stability, Hypopigmentation of hair, Short sta... ORPHA:100
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, ... ORPHA:217346
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness OMIM:617087
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Angulated muscle fibers, Muscular dy... OMIM:617066
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79405
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... OMIM:603034
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss OMIM:613662
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Iris coloboma, Facial h... OMIM:612713
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... ORPHA:353327
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck, Scoliosis,... OMIM:616801
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Increased circulat... OMIM:600649
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... OMIM:619375
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... OMIM:619386
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Arrhythmia, Short stature, Camptodactyly OMIM:618453
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Short Syndrome
Inguinal hernia, Cataract, Lipodystrophy, Lipoatrophy, Rieger anomaly, Absence of subcutaneous fa... OMIM:269880
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... OMIM:611588
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Acth Deficiency, Isolated
Cholestasis, Jaundice, Fasting hypoglycemia OMIM:201400
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:617049
Full Schwannomatosis
Cataract, Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Periph... ORPHA:93921
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia OMIM:261550
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Increased fecal coproporphyrin 3, Myeloproliferative disorder ORPHA:100924
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Benign Schwannoma
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... ORPHA:252164
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Cryptorchidism, Flexion... OMIM:227645
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy ORPHA:1818
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... OMIM:243700
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Short Syndrome
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Corneal ... ORPHA:3163
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, ... ORPHA:221
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Crypt... OMIM:227650
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Oslam Syndrome
Neoplasm, Anemia, Osteosarcoma OMIM:165660
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:255310
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90158
Silver-Russell Syndrome
Abnormality of male external genitalia, Decreased muscle mass, Short stature, Failure to thrive i... ORPHA:813
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology, Squamous cell carcinoma ORPHA:542592
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i... OMIM:614699
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hyp... ORPHA:276575
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Lynch Syndrome 8
Endometrial carcinoma, Adenomatous colonic polyposis, Colon cancer, Hereditary nonpolyposis color... OMIM:613244
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Intrauterine growth retardation, Congenital generalized lipodystrophy, Short stature, Generalized... OMIM:608154
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Cryptor... ORPHA:486815
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsuline... ORPHA:276556
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pneumonia, Pure red cell aplasia, ... ORPHA:436159
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... OMIM:618138
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Kyphosis, Abnormality of the ovary, Hypogonadism, Congenital muscular dystrophy, Decrea... ORPHA:1875
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... OMIM:254090
Xfe Progeroid Syndrome
Severe short stature, Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Def... OMIM:610965
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
King-Denborough Syndrome
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Crypto... OMIM:619542
Aredyld Syndrome
Lipoatrophy, Short stature, Abnormal dental enamel morphology, Cachexia, Scoliosis, Intrauterine ... ORPHA:1133
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Temple Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, Recurrent hypoglycemia, Type II diab... ORPHA:254516
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Lipoatrophy ORPHA:79084
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:2584
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Mehmo Syndrome
Birth length less than 3rd percentile, Hypoglycemia, Delayed puberty OMIM:300148
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Late-Onset Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79406
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypoglycemia, Postnatal growth retardation, Type I diabetes mellitus, Decreased te... OMIM:616113
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Hypoglycemia ORPHA:289504
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Lipoatrophy, Congest... ORPHA:79083
Monosomy 22
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... ORPHA:96123
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Severe short stature, Premature ovarian insufficiency, Cataract ORPHA:2278
Autoinflammatory-Pancytopenia Syndrome
Growth delay, Lipodystrophy OMIM:619858
Blue Diaper Syndrome
Elevated hepatic transaminase, Recurrent hypoglycemia, Increased proinsulin:insulin ratio ORPHA:94086
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Anauxetic Dysplasia 2
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Lig4 Syndrome
Recurrent respiratory infections, Pancytopenia, Myelodysplasia, Acute lymphoblastic leukemia, Thr... OMIM:606593
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi... OMIM:212112
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia ORPHA:156
Ddost-Cdg
Lipodystrophy, Short stature ORPHA:300536
Noonan Syndrome 6
Juvenile myelomonocytic leukemia OMIM:613224
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Generalized lipodystr... ORPHA:363400
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal pleura morphology, Abnormal immunoglobulin leve... ORPHA:3162
Bone Marrow Failure Syndrome 3
Chromosome breakage, Short stature, Cryptorchidism, Astigmatism, Nail dystrophy, Hernia, Sparse h... OMIM:617052
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, B-cell l... ORPHA:91139
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
C3 Glomerulopathy
Hypertension, Lipodystrophy ORPHA:329918
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Short neck, Elbow flexion contracture, Knee flexion con... ORPHA:371364
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hypoplasia of penis, Short stature, Camptodactyly of finger, Abnormal hair patte... ORPHA:85293
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
2P21 Microdeletion Syndrome
Growth delay, Hypoglycemia ORPHA:163693
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyos... ORPHA:647
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Congenital Generalized Lipodystrophy
Lipodystrophy, Congestive heart failure, Adipose tissue loss, Skeletal muscle hypertrophy, Macrog... ORPHA:528
Congenital Factor Xiii Deficiency
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine ORPHA:331
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... ORPHA:1018
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity ORPHA:391
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Cataract, Short stature ORPHA:85288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Ma... OMIM:613156
Christianson Syndrome
Arthrogryposis multiplex congenita, Cachexia, Decreased muscle mass, Thick eyebrow ORPHA:85278
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Exercise intolerance, Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Myalgia, Generali... OMIM:615156
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Disproportionate short-trunk short stature, Irregular vertebral endplates, ... OMIM:609223
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... OMIM:614350
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... ORPHA:811
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Diabetes mellitus OMIM:606176
Nathalie Syndrome
Growth delay, Abnormal EKG, Cataract, Skeletal muscle atrophy OMIM:255990
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myelodysplasia... OMIM:260400
Alexander Disease Type I
Cachexia, Failure to thrive, Scoliosis ORPHA:363717
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma OMIM:612591
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr... ORPHA:3243
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Limb-gir... ORPHA:171436
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Short stature, Hypoglycemia ORPHA:231137
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral end... OMIM:618363
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, R... ORPHA:298
Rhabdomyolysis, Susceptibility To, 1
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle f... OMIM:620235
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Self-Improving Dystrophic Epidermolysis Bullosa
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79411
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Cryptorchidism, Prolong... OMIM:600901
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Leukemia, Myelodysplasia OMIM:619951
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Distal amyotrophy, Hyperlordosis OMIM:162370
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Rec... ORPHA:1572
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia ORPHA:2394
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Spinal rigidity, Centrally nucleated skeletal... OMIM:617072
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Congenital Short Bowel Syndrome
Lipoatrophy, Short stature ORPHA:2301
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Short stature, Hypogonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Low poster... ORPHA:1387
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:618905
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Hypoglycemia ORPHA:48431
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Fanconi Anemia, Complementation Group I
Short stature, Short neck, Fused cervical vertebrae, Astigmatism, Decreased body weight, Intraute... OMIM:609053
Hsd10 Mitochondrial Disease
Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:245400
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocyto... ORPHA:3261
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar s... ORPHA:3041
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hyperglycemia OMIM:615453
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis OMIM:616756
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Rieger anomaly, Severe short stature, Lipodystrophy, Short s... OMIM:270450
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Neuroendocrine neoplasm ORPHA:404443
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypoglycemia, Postnatal growth retardation, Type II diabetes mellitus,... ORPHA:453533
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... OMIM:616470
De Barsy Syndrome
Inguinal hernia, Cataract, Short stature, Lipodystrophy, Kyphoscoliosis, Corneal opacity, Postnat... ORPHA:2962
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Cronkhite-Canada Syndrome
Alopecia, Cataract, Cachexia, Dystrophic toenail, Patchy alopecia, Dystrophic fingernails, Sparse... ORPHA:2930
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... OMIM:271530
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Low anterior hairline, Microcornea, Wrist flexion contractur... ORPHA:800
Proteus Syndrome
Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma OMIM:176920
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Ectopia lentis, Kyphosis, Abs... OMIM:616914
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Cervical kyphosis, Short neck, Quadriceps muscle weakness, Microcornea, ... OMIM:255800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Severe postnatal g... ORPHA:73272
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Short stature, Generalized hirsutism, Cachexia ORPHA:1933
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Neurofibromatosis Type 1
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... ORPHA:636
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha... OMIM:620285
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:180295
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Myelodysplasia, Functional abnormality of the gastrointestinal tract, Squamous c... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Myelodysplasia, Lymphoma, Cleft palate, Squamous cell carcinoma, Functional abno... ORPHA:221016
Proteasome-Associated Autoinflammatory Syndrome 2
Arthralgia, Lipodystrophy OMIM:618048
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice ORPHA:199296
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperinsulinemia, Elevated circulating alkaline phos... ORPHA:263455
Martsolf Syndrome 2
Cataract, Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Developmental ca... OMIM:619420
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Xerostomia ORPHA:43393
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Abnormality of the pulmonary vasculature, Cleft palate ORPHA:33001
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Hepa... OMIM:300635
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Ane Syndrome
Multiple joint contractures, Lipoatrophy, Short stature, Kyphoscoliosis, Generalized amyotrophy, ... ORPHA:157954
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Small for gestational age, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increase... OMIM:616817
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Erythrokeratodermia Variabilis
Alopecia, Cataract, Short stature, Corneal opacity, Abnormal hair morphology, Weight loss, Abnorm... ORPHA:317
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Hypoglycemia, Decreased liver function OMIM:618835
Rothmund-Thomson Syndrome
Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplas... ORPHA:2909
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the lymphatic system, Narrow palate, Mac... ORPHA:870
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Hypoglycemia, Decreased liver function OMIM:618839
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... OMIM:620246
Poems Syndrome
Fatigue, Pain, Lipodystrophy, Lymphoproliferative disorder, Pulmonary arterial hypertension, Hema... ORPHA:2905
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hypoglycemia OMIM:618120
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma OMIM:610644
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormal lactate dehydrogenase level, ... ORPHA:42
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... OMIM:264180
Tetrasomy 12P
Short stature, Cachexia, Short neck, Sparse eyebrow, Sparse hair ORPHA:884
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Three M Syndrome 1
Scapular winging, Short stature, Small for gestational age, Hypospadias, Short neck, Postnatal gr... OMIM:273750
Cutis Laxa, Autosomal Recessive, Type Iia
Intrauterine growth retardation, Inguinal hernia, Lipodystrophy, Scoliosis OMIM:219200
Scleroderma, Familial Progressive
Calcinosis, Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia OMIM:618838
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... OMIM:613675
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Myelodysplasia, Thro... OMIM:305000
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Lipoatrophy ORPHA:261304
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, A... OMIM:616100
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... OMIM:300580
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... ORPHA:100026
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis mult... OMIM:618393
Fucosidosis
Decreased muscle mass, Lipoatrophy, Corneal opacity, Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... ORPHA:99642
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt... OMIM:150550
Multiple Endocrine Neoplasia Type 4
Angiofibromas, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary prolac... ORPHA:276152
Masa Syndrome
Kyphosis, Short stature, Hyperlordosis OMIM:303350
Lipodystrophy, Familial Partial, Type 5
Hypertension, Lipodystrophy OMIM:615238
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cataract, Hyperlordosis, Fatty replacement of skeletal muscle, Hip pain, Abnormality of the verte... ORPHA:52430
Mosaic Variegated Aneuploidy Syndrome 1
Embryonal rhabdomyosarcoma, Cleft palate, Leukemia, Nephroblastoma, Duodenal atresia OMIM:257300
Radial-Renal Syndrome
Chromosome breakage, Short stature OMIM:179280
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Inflammation of the large intes... OMIM:614700
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy, Cataract, Hypogonadism OMIM:254000
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Fasting hyperi... ORPHA:71212
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of l... OMIM:230650
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Decreased muscle mass, Short stature, Lipodystrophy, Subretinal pigment epitheli... ORPHA:357074
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int... ORPHA:906
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Metaphyseal Chondrodysplasia, Spahr Type
Disproportionate short stature, Scoliosis, Hyperlordosis ORPHA:2501
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi... OMIM:619040
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Graft Versus Host Disease
Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Lipodystrophy, Fasciitis, Myositis, ... ORPHA:39812
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Cataract, Achilles tendon contracture, Ra... OMIM:615418
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Abnormal lung lobation,... ORPHA:1052
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Kyphosis, Scoliosis ORPHA:702
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Lynch Syndrome 4
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm OMIM:614337
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Myelodysplasia, Leukocytosis, He... ORPHA:3260
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased va... OMIM:617228
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Galactosemia Iii
Splenomegaly, Jaundice, Hepatomegaly OMIM:230350
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Micronodular cirr... OMIM:251880
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Short neck, Flexion contracture, Long eyelashes, Scoliosis, Increas... OMIM:619026
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Di... ORPHA:300605
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Abdominal pain, Vasculitis, Arthralgia, Panniculitis, Myalgia OMIM:617099
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating as... OMIM:614921
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ... OMIM:618186
Rett Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis OMIM:312750
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... OMIM:191100
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Short stature, Lipoatrophy, Umbilical hernia, Intrauterine g... ORPHA:2963
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Lack of facial sub... ORPHA:90156
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Li... OMIM:248370
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Cryptococcosis
Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Per... ORPHA:1546
Stiff Skin Syndrome
Hypertension, Short stature, Lipoatrophy ORPHA:2833
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Pulmonary Blastoma
Weight loss ORPHA:64741
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hyperinsulinem... ORPHA:79237
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... OMIM:308230
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc... OMIM:613490
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Astigmatis... OMIM:615761
Crisponi/Cold-Induced Sweating Syndrome 2
Weakness of facial musculature, Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia, Short neck ORPHA:1438
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly OMIM:620010
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyos... ORPHA:139411
H Syndrome
Decreased testicular size, Short stature, Lipodystrophy, Abnormal cardiovascular system physiolog... ORPHA:168569
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc... ORPHA:169186
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scoliosis, Joint c... OMIM:615704
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Lipodystrophy ORPHA:79085
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Post-Traumatic Pituitary Deficiency
Growth delay, Hypoglycemia, Decreased testicular size, Delayed puberty ORPHA:95619
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Exercise intolerance, Facial palsy, Spinal rigidity, Kyphosis, Di... OMIM:615084
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytopenia, Impai... OMIM:613179
Winchester Syndrome
Kyphosis, Corneal opacity OMIM:277950
Wagr Syndrome
Cataract, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iris, Scoliosis, Ambi... ORPHA:893
Fanconi Anemia, Complementation Group F
Sacral dimple, Short stature, Cryptorchidism, Microphallus, Intrauterine growth retardation, Fail... OMIM:603467
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Laron Syndrome
Severe short stature, Hypoglycemia, Delayed puberty ORPHA:633
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating aspartate ... OMIM:256810
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Donohue Syndrome
Postnatal growth retardation, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Fasting hypoglycem... OMIM:246200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... ORPHA:435387
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture, Generalized lipodystrophy, Panniculitis OMIM:619183
Congenital Myopathy 22A, Classic
Fatigue, Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nuclea... OMIM:620351
Fanconi Anemia, Complementation Group D2
Pancytopenia, Thrombocytopenia, Esophageal atresia, Annular pancreas, Reticulocytopenia, Tracheoe... OMIM:227646
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Myopathy, Intrauterine growth retardation, Hypertrophic cardiomyop... OMIM:618237
Intellectual Disability And Myopathy Syndrome
Fatigue, Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis OMIM:619719
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa... ORPHA:228305
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia OMIM:212138
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Parathyro... ORPHA:99880
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Medulloblastoma, Lipodystrophy, Increased adipose tissue ORPHA:199276
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cl... OMIM:620210
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Lipodystrophy, Flexion contracture, Panniculitis, Conjunctivitis, Arthralgia OMIM:617591
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Cog8-Cdg
Elevated hepatic transaminase, Hypoglycemia ORPHA:95428
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Cryptorchidism, Kyphosis, Facial diplegia, Scoliosis, Arthro... OMIM:611890
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... ORPHA:178148
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Short stature, Hypoglycemia, Delayed puberty ORPHA:95496
Cimdag Syndrome
Lipodystrophy, Developmental cataract OMIM:619273
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Uterine l... ORPHA:143
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Hyperlordosis, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Myalgia, M... ORPHA:369840
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta... OMIM:617156
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Trisomy 18
Omphalocele, Cataract, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, C... ORPHA:3380
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Exercise intolerance, Decreased mitochondrial number, Spinal rigi... ORPHA:352447
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:85327
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... OMIM:603909
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents, Short neck OMIM:610832
Fanconi Anemia, Complementation Group P
Growth delay, Cryptorchidism, Short stature, Chromosomal breakage induced by crosslinking agents OMIM:613951
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Hypoglycemia OMIM:614702
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinom... ORPHA:79409
Congenital Analbuminemia
Fatigue, Lipodystrophy, Low pulse pressure ORPHA:86816
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscolios... OMIM:114300
Sialidosis Type 2
Skeletal muscle atrophy, Inguinal hernia, Short stature, Corneal opacity, Kyphosis, Flexion contr... ORPHA:87876
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Small scrotum, Deve... OMIM:610756
Myotonic Dystrophy 2
Frontal balding, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligo... OMIM:602668
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Short neck, Hyperlordosis, Abnormal sacrum morphology, Abnormal morphology ... ORPHA:1797
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Short stature, Scoliosis OMIM:300434
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... OMIM:300200
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal growth retardation... ORPHA:391408
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... OMIM:314580
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:101078
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Cataract, Pulmonary embolism, Congestive heart failure, ... ORPHA:1345
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Mucolipidosis Iii Gamma
Aortic regurgitation, Short stature, Hyperlordosis, Short neck, Kyphosis, Arthralgia, Scoliosis, ... OMIM:252605
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia OMIM:618398
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Postnatal growth ret... OMIM:227810
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia ORPHA:1046
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Fasting hypoglycemia ORPHA:436174
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Astrocytoma, Lymphoma, Abnormal cardiovascular system physiology, ... ORPHA:79086
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Mulchandani-Bhoj-Conlin Syndrome
Severe short stature, Hyperlordosis, Scoliosis, Intrauterine growth retardation, Failure to thrive OMIM:617352
Fanconi Anemia, Complementation Group R
Growth delay, Chromosomal breakage induced by crosslinking agents, Scoliosis OMIM:617244
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Fanconi Anemia, Complementation Group Q
Growth delay, Chromosome breakage, Short stature OMIM:615272
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Short stature, Decreased fertility, Primary amenorrhea,... ORPHA:2410
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty ORPHA:2598
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures ORPHA:3454
Fanconi Anemia, Complementation Group L
Chromosome breakage, Hypoplastic sacrum, Short neck, Growth delay, Aplasia of the uterus, Intraut... OMIM:614083
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Flexion contr... OMIM:608612
Felty Syndrome
Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Lymphoma, Recurre... ORPHA:47612
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur... ORPHA:97279
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Borjeson-Forssman-Lehmann Syndrome
Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Scheuermann-like vertebral c... OMIM:301900
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... ORPHA:65285
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Dystrophic fingernails, Dystrophic toenail, Hyperlordosis ORPHA:970
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Alopecia, Streak ovar... ORPHA:2232
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... OMIM:232200
Pituitary Hormone Deficiency, Combined, 6
Short stature, Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Intestinal Dysmotility Syndrome
Failure to thrive, Cataract, Weight loss OMIM:620045
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Dubowitz Syndrome
Aplastic anemia, Velopharyngeal insufficiency, Lymphoma, Submucous cleft hard palate, Acute lymph... OMIM:223370
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Cataract,... ORPHA:2635
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Short stature, Hyperlordosis ORPHA:1192
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Keppen-Lubinsky Syndrome
Decreased testicular size, Lipodystrophy, Postnatal growth retardation, Flexion contracture, Scol... ORPHA:435628
Ck Syndrome
Slender build, Lumbar hyperlordosis, Asthenia, Kyphoscoliosis ORPHA:251383
Mitochondrial Trifunctional Protein Deficiency 2
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:620300
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Corneal opacity, Neoplasm of the skeletal system, Visceral angiomatosis, Multiple ... ORPHA:2396
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Short stature, Hypoglycemic seizures OMIM:262600
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Noonan Syndrome 2
Leukemia, High palate OMIM:605275
Familial Renal Glucosuria
Insulin resistance, Moderate postnatal growth retardation, Glycosuria, Hyperglycemia, Abnormal or... ORPHA:69076
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Short stature, Lipodystrophy, Camptodactyly of finger, Congestive heart ... OMIM:256040
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... OMIM:313400
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Short stature, Hypoglycemia OMIM:606054
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
3Mc Syndrome
Diastasis recti, Highly arched eyebrow, Hyperlordosis, Postnatal growth retardation, Bilateral cr... ORPHA:293843
Fanconi Anemia, Complementation Group V
Short stature, Chromosomal breakage induced by crosslinking agents OMIM:617243
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur... OMIM:313420
Tuberculosis
Weight loss ORPHA:3389
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Abscess, Perianal abscess, Lymphadenitis, Spl... OMIM:618935
Muscular Dystrophy, Duchenne Type
Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Flexion contracture, H... OMIM:310200
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Intrauterine growth retardation, Hypoglycemia, Cryptorchidism ORPHA:397590
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdo... OMIM:620138
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Congenital contracture, Lentiglobus, Cryptorchidism, Contractu... ORPHA:191
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short stature, Centrally nucleated skeletal muscle fibers, Kyphosis, Fle... OMIM:248800
Cutis Laxa, Autosomal Recessive, Type Iie
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Long eyelas... OMIM:619451
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Short stature, Facial myokymia OMIM:620007
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Thick hair, Increased variability in muscle fiber diameter, Increased muscle glycogen content, My... ORPHA:502423
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Hypochondroplasia
Hyperlordosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Scoliosis, Childhood... ORPHA:429
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hypoglycemia OMIM:616355
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Abn... ORPHA:39041
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary inters... ORPHA:77293
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy, Short stature, Limb hypertonia OMIM:618922
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos... OMIM:260920
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Abnormal subcutaneous f... ORPHA:1328
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Fatigue, Lumbar hyperlordosis, Bilateral camptodactyly, Posterior subcapsular cataract... OMIM:619234
Arthrogryposis, Distal, Type 5
Keratoconus, Exercise intolerance, Decreased muscle mass, Short stature, Kyphosis, Keratoglobus, ... OMIM:108145
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Hyperlordosis, Scoliosis, Shagreen patch ORPHA:2511
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Intrauterine growth retardation, Hepatic failure, Hypoglycemia OMIM:619355
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Myopathy, Scoliosis, Hypertro... OMIM:618234
Gapo Syndrome
Keratoconus, Alopecia, Short stature, Dysmenorrhea, Sparse eyelashes, Sparse eyebrow, Early baldi... ORPHA:2067
Hurler-Scheie Syndrome
Aortic regurgitation, Inguinal hernia, Short stature, Camptodactyly of finger, Corneal opacity, T... OMIM:607015
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Nail dystrophy, Cachexia OMIM:175500
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Gm1 Gangliosidosis
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypop... ORPHA:354
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Splenomegaly, Juvenile myelomonocytic leukemia, Chylothorax, Hepatosplenomegaly OMIM:613563
Silver-Russell Syndrome 1
Intrauterine growth retardation, Testicular seminoma, Fasting hypoglycemia, Hepatocellular carcinoma OMIM:180860
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Facia... ORPHA:3068
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, B-cel... OMIM:102700
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Myopathy, Scoliosis, Lipoma, Uterine neoplasm ORPHA:109
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-... OMIM:184250
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Exercise intolerance, Scapular winging, Failure to thrive, Hyperlordosis, Ragged-red muscle fiber... OMIM:600462
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Short stature, Kyphosis, Cryptorchidism, Congenital contracture, Joint contractu... ORPHA:352490
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Enamel hypoplasia OMIM:617915
3M Syndrome
Scapular winging, Short stature, Abnormal dental enamel morphology, Hypospadias, Short neck, Hype... ORPHA:2616
Mucopolysaccharidosis, Type Iva
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Grayish enamel, Hypoplasia of... OMIM:253000
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryp... OMIM:617796
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Abnormal pulmonary int... OMIM:230800
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Fanconi Anemia, Complementation Group U
Growth delay, Chromosome breakage, Unilateral facial palsy OMIM:617247
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... ORPHA:171881
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Atypical Werner Syndrome
Skeletal muscle atrophy, Neoplasm of the breast, Renal neoplasm, Short stature, Generalized lipod... ORPHA:79474
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Acrocapitofemoral Dysplasia
Short stature, Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Satoyoshi Syndrome
Short stature, Hyperlordosis, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absen... ORPHA:3130
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Hyperlordosis OMIM:617450
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Short stature, Scoliosis ORPHA:276630
Oculoskeletodental Syndrome
Hyperlordosis, Developmental cataract, Abnormality of the frontal hairline, Thoracic kyphosis, Sc... ORPHA:557003
Dyskeratosis Congenita, Autosomal Recessive 8
Intrauterine growth retardation, Sparse scalp hair, Chromosomal breakage induced by crosslinking ... OMIM:620133
Mucopolysaccharidosis Type 4
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Ky... ORPHA:582
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Urinary incontinence, Kyphosis, Scoliosis, Limb muscle weakness, Lower limb muscle weak... OMIM:614409
Sandhoff Disease
Kyphosis, Congestive heart failure ORPHA:796
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Thoracic scoliosis, Nemaline bodies, Abnormality of skeletal muscle fibe... OMIM:620278
Myopathy, Mitochondrial, And Ataxia
Thick hair, Multiple lipomas, Distal amyotrophy, Myalgia, Scoliosis, Increased variability in mus... OMIM:617675
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Infertility OMIM:240950
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Fryns-Smeets-Thiry Syndrome
Cachexia, Short stature, Scoliosis ORPHA:2058
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Nestor-Guillermo Progeria Syndrome
Short stature, Lipoatrophy, Flexion contracture, Right bundle branch block, Hypertension, Mitral ... OMIM:614008
Warburg Micro Syndrome 3
Decreased muscle mass, Cataract, Small scrotum, Kyphoscoliosis, Postnatal growth retardation, Hyp... OMIM:614222
Pfapa Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy ORPHA:42642
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Neonatal hypoglycemia OMIM:606407
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Short stature, Kyphosis, Scoliosis, Umbilical hernia, Arthrogryposis multiplex c... OMIM:615834
Majeed Syndrome
Failure to thrive, Flexion contracture, Cachexia, Weight loss ORPHA:77297
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Down Syndrome
Aganglionic megacolon, Protruding tongue, Pulmonary artery stenosis, Partial anomalous pulmonary ... OMIM:190685
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Cat... ORPHA:370959
Dubowitz Syndrome
Anal stenosis, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Rectal prolapse, Lymp... ORPHA:235
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Hypoglycemia OMIM:618253
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Congenital Fiber-Type Disproportion Myopathy
Fatigue, Hip contracture, Failure to thrive, Ankle flexion contracture, Hyperlordosis, Kyphoscoli... ORPHA:2020
Pure Mitochondrial Myopathy
Exercise intolerance, Scapular winging, Lumbar hyperlordosis, Quadriceps muscle weakness, Rhabdom... ORPHA:254854
Metatropic Dysplasia
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... OMIM:156530
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating aspartate aminotransferase concen... OMIM:608779
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis ORPHA:1969
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Cholesteryl Ester Storage Disease
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly ORPHA:75234
Alpha-Mannosidosis
Inguinal hernia, Cataract, Corneal opacity, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:61
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Sialidosis Type 1
Skeletal muscle atrophy, Cataract, Short stature, Corneal opacity, Kyphosis, Abnormal form of the... ORPHA:812
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Mild short stature, Lumbar hyperlordosis, Scoliosis OMIM:618167
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles... ORPHA:69663
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Squamous cell carcinoma, Abnormal esoph... OMIM:226600
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Cowden Syndrome 6
Colonic diverticula, Fibroadenoma of the breast, Breast carcinoma, Furrowed tongue, Hamartomatous... OMIM:615109
Estrogen Resistance
Impaired glucose tolerance, Elevated alkaline phosphatase of bone origin, Hyperinsulinemia, Gluco... OMIM:615363
Sjögren-Larsson Syndrome
Short stature, Abnormal dental enamel morphology, Kyphosis, Corneal erosion, Scoliosis ORPHA:816
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia ORPHA:169090
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased ... OMIM:258450
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Short neck, Growth delay, Hy... OMIM:300514
Idiopathic Achalasia
Weight loss ORPHA:930
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:128100
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Joubert Syndrome 37
Lumbar hyperlordosis, Short stature, Cryptorchidism, Obesity, Sparse hair, Micropenis, Decreased ... OMIM:619185
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-g... OMIM:616812
Microphthalmia, Lenz Type
Cataract, Short stature, Camptodactyly of finger, Hypospadias, Hyperlordosis, Cryptorchidism, Kyp... ORPHA:568
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Short stature, Disproportionate short-limb short stature ORPHA:156728
Three M Syndrome 3
Short stature, Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, ... OMIM:614205
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hypoglycemia OMIM:614736
Bruck Syndrome 1
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V... OMIM:259450
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive OMIM:614096
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Hypoglycemia OMIM:617710
Dpagt1-Cdg
Prolonged QT interval, Lipodystrophy, Flexion contracture, Developmental cataract, Intracranial h... ORPHA:86309
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Hypoglycemia ORPHA:391428
Seckel Syndrome
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Scoliosis, Intraut... ORPHA:808
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
D-Glyceric Aciduria
Growth delay, Reduced hepatic D-glycerate kinase activity, Hypoglycemia OMIM:220120
Cdkl5-Deficiency Disorder
Growth delay, Kyphosis, Scoliosis ORPHA:505652
Facioscapulohumeral Dystrophy
Abnormal eyelash morphology, Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Neoplasm of the stomach, Panc... ORPHA:99889
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Corneal opacity, Corneal stromal edema, Scoliosis, Keloids, Joint contracture, Flexi... OMIM:601812
Alg9-Cdg
Omphalocele, Torticollis, Tricuspid regurgitation, Lipodystrophy, Rhizomelia, Hypoplasia of the m... ORPHA:79328
Hypomelanosis Of Ito
Kyphosis, Cataract, Iris coloboma, Scoliosis OMIM:300337
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fasting hypoglycemia, Hepatic failure, Hypoketotic h... ORPHA:159
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Cho... OMIM:609015
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Myotonia Permanens
Hyperlordosis, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Chest pain, Myalgia ORPHA:99735
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... ORPHA:2298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Spinal rigidity, Peters anomaly, Skeletal muscle hypertrophy, Macroglossia, Congenital ... OMIM:613150
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive OMIM:613752
Solitary Fibrous Tumor
Neoplasm of the liver, Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Severe short stature, Proportionate short stature, Weight loss, Knee fle... ORPHA:3208
Glutaric Acidemia I
Reduced peroxisomal glutaryl-CoA oxidase activity, Hepatomegaly, Hypoglycemia OMIM:231670
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Desbuquois Dysplasia 1
Severe short stature, Short neck, Hyperlordosis, Kyphosis, Developmental glaucoma, Obesity, Growt... OMIM:251450
Whipple Disease
Cachexia, Myositis, Erectile dysfunction ORPHA:3452
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Telangiectasia of the skin, Hydrocele testis, Multiple lipomas, Scoliosis, Nephrobla... ORPHA:276280
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter, Cryptorchidism OMIM:616816
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Marfan Syndrome
Skeletal muscle atrophy, Inguinal hernia, Flat cornea, Cachexia, Lens luxation, Ectopia lentis, K... ORPHA:558
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema, Acute leukemia ORPHA:289
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... OMIM:130060
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... ORPHA:398124
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Recurrent hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:79644
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Smith-Kingsmore Syndrome
Cryptorchidism, Rhizomelia, Hypoglycemia OMIM:616638
Thoracomelic Dysplasia
Hyperlordosis, Disproportionate short-limb short stature, Low posterior hairline, Short neck ORPHA:1803
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Short stature, Corneal opacity, Congenital abnormal hair pattern, External ge... ORPHA:1867
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Increased circulat... ORPHA:99901
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia ORPHA:3218
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Increased connective tissue, ... ORPHA:258
Mucopolysaccharidosis, Type Ivb
Inguinal hernia, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplas... OMIM:253010
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae ORPHA:2522
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... OMIM:608836
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Oligozoos... ORPHA:330015
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Growth... ORPHA:66634
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypert... ORPHA:363618
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Aganglionic megacolon, Nephroblastoma, Ependymoma, Annular pancreas, Rec... ORPHA:798
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Bilateral cr... OMIM:242900
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio... OMIM:234250
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246450
Neonatal Marfan Syndrome
Iridodonesis, Tricuspid regurgitation, Lipoatrophy, Ectopia lentis, Flexion contracture, Heart mu... ORPHA:284979
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Pleural effusion, Leukemia, Lymphoma, Chylothorax ORPHA:2526
Zimmermann-Laband Syndrome
Hepatomegaly, Splenomegaly, Gingival fibromatosis, Cleft palate, Macroglossia, High palate, Bifid... ORPHA:3473
Baralle-Macken Syndrome
Kyphosis, Cataract, Urinary incontinence OMIM:619255
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Increased ci... ORPHA:26791
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder ORPHA:70591
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertrophy, Cardiomyopat... OMIM:300280
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Hypoglycemia OMIM:620275
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Severe short stature, Short stature, Small for gestationa... OMIM:612921
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hip pain, Hypoplasia of the odontoid process, I... OMIM:184100
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis, Short stature OMIM:609325
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Genera... OMIM:608594
Stickler Syndrome
Skeletal muscle atrophy, Cataract, Short stature, Abnormal dental enamel morphology, Cachexia, Ec... ORPHA:828
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Short stature ORPHA:2786
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Aicardi-Goutières Syndrome
Enchondroma, Myositis, Multiple joint contractures, Short stature, Lipoatrophy, Raynaud phenomeno... ORPHA:51
Maple Syrup Urine Disease
Hypoglycemia OMIM:248600
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, Ir... OMIM:110100
Lateral Meningocele Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the verteb... ORPHA:2789
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Cavernous hemangioma, Righ... OMIM:616028
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Short stature, Camptodactyly of finger, Hyperlordosis, Low posterior hairline, Vertebral segmenta... ORPHA:1323
Meningioma
Back pain, Hypogonadotropic hypogonadism, Facial palsy, Obesity, Upper limb muscle weakness, Impo... ORPHA:2495
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... OMIM:201475
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Granuloma, High palate, Lisch nodules, Neurofibrosarcoma, Hemangio... ORPHA:363700
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cataract, Vaginal neoplasm, Multiple cutaneous leiomyomas, Esophageal neoplasm... ORPHA:523
Arthrogryposis, Distal, Type 5D
Decreased muscle mass, Short stature, Highly arched eyebrow, Hyperlordosis, Short neck, Elbow fle... OMIM:615065
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Severe short stature, Lumbar hyperlordosis, Limb joint contracture, Incre... ORPHA:93314
Fucosidosis
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior beaking of thoraci... OMIM:230000
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter OMIM:619334
Fanconi Anemia
Abnormality of chromosome stability, Cataract, Short stature, Hypospadias, Abnormal preputium mor... ORPHA:84
Rhizomelic Chondrodysplasia Punctata, Type 2
Inguinal hernia, Cataract, Flexion contracture, Irregular vertebral endplates, Coronal cleft vert... OMIM:222765
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Braddock-Carey Syndrome 1
Curly hair, Hyperlordosis, Camptodactyly, Sparse hair, Enamel hypoplasia OMIM:619980
Infantile Krabbe Disease
Failure to thrive, Shoulder girdle muscle weakness, Cachexia ORPHA:206436
Frontorhiny
Pericallosal lipoma, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Widow's peak, Scoli... ORPHA:391474
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Genera... OMIM:269700
Hereditary Fructose Intolerance
Hepatomegaly, Reduced circulating aldolase concentration, Reactive hypoglycemia, Jaundice, Growth... ORPHA:469
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism OMIM:618512
Seckel Syndrome 10
Diabetes mellitus, Severe short stature, Impaired glucose tolerance, Elevated circulating asparta... OMIM:617253
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Short stature, Hypoglycemia OMIM:233600
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Scapular winging, Lumbar hyperlordosis, Short stature, Small for gestational age, Sm... OMIM:609625
Native American Myopathy
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Abnormal curv... ORPHA:168572
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Chime Syndrome
Cleft palate, Acute leukemia ORPHA:3474
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Myopathy, Hypogonadis... ORPHA:85450
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia... ORPHA:649
Trichothiodystrophy 1, Photosensitive
Cataract, Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Absence of... OMIM:601675
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, High palate OMIM:609942
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Cryptorchidism, Visceral angiomatosis, Abnormal form of the ve... ORPHA:628
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
3-Methylglutaconic Aciduria Type 7
Growth delay, Hepatic steatosis, Neonatal hypoglycemia, Elevated hepatic transaminase ORPHA:445038
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Diaphragmatic eventration, Spinal muscular atrophy, Flexion contracture, Increased variability in... OMIM:616866
Riddle Syndrome
Conjunctival telangiectasia, Weight loss, Short stature, Chromosomal breakage induced by ionizing... ORPHA:420741
Huntington Disease-Like 2
Weight loss ORPHA:98934
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Myopic astigmatism, Synophrys, O... OMIM:618443
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Scoliosis ORPHA:99014
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis, Short stature OMIM:165800
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Crisponi Syndrome
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Scoliosis ORPHA:1545
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Osteom... ORPHA:261584
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia OMIM:251000
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Rhizomelia, Sacral dimple, Abnormality ... ORPHA:175
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... OMIM:606003
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... OMIM:232220
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Generalized lipodystrophy, Short stature, Delayed puberty ORPHA:90154
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma ... ORPHA:653
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Keloids, Cryptorchidism, Torticollis, Oligozoospermia OMIM:314300
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis, ... ORPHA:1798
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Foot dorsiflexor weakness, Short stature, Scoliosis OMIM:618124
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss ORPHA:84142
Bachmann-Bupp Syndrome
Cryptorchidism, Hypoglycemia OMIM:619075
Wrinkly Skin Syndrome
Inguinal hernia, Decreased muscle mass, Short stature, Lipodystrophy, Kyphoscoliosis, Postnatal g... ORPHA:2834
Ruvalcaba Syndrome
Inguinal hernia, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty OMIM:180870
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea... ORPHA:905
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Abnormal circulating enzyme concentration or activity, Neonatal ... ORPHA:565624
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,... ORPHA:2311
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... OMIM:618291
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cataract, Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal st... OMIM:616007
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia OMIM:619046
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cowden Syndrome 5
Cataract, Kyphosis, Breast carcinoma, Hydrocele testis, Hamartomatous polyposis, Meningioma, Scol... OMIM:615108
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... ORPHA:2137
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Pneumonia, Lymphocytic interstitial pneumonia, Perianal abscess, Respirat... ORPHA:2968
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Kyphosis, Umbilical hernia, Scoliosis ORPHA:2181
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Small for gestational age, Facial hypoto... OMIM:216550
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Urinary incontinence, Kyphoscoliosi... ORPHA:573278
Kleefstra Syndrome 2
Growth delay, Kyphosis, Scoliosis OMIM:617768
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
Trisomy 13
Cataract, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the iris, Capillary hemangioma, Hernia,... ORPHA:3378
Timothy Syndrome
Hypoglycemia OMIM:601005
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Short stature, Urinary incontinence, Absent pu... ORPHA:464282
Kaposiform Lymphangiomatosis
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Abnormal l... ORPHA:464329
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Small scrotum, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis,... ORPHA:3253
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Hypogonadotropic hypogonadism, Cataract,... OMIM:212720
Rabson-Mendenhall Syndrome
Short stature, Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-... ORPHA:769
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, High, narrow palate, Cleft pa... OMIM:163950
Shashi-Pena Syndrome
Intrauterine growth retardation, Hypoglycemia OMIM:617190
Reni Syndrome
Cryptorchidism, Hypoglycemia OMIM:617575
Rubinstein-Taybi Syndrome 1
Accessory spleen, Respiratory tract infection, High, narrow palate, Recurrent upper respiratory t... OMIM:180849
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali... ORPHA:84064
Proteus Syndrome
Central heterochromia, Cataract, Decreased muscle mass, Abnormal dental enamel morphology, Testic... ORPHA:744
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Growth delay, C... OMIM:276700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole... OMIM:124000
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Astigmatism, Scoliosis, Cryptorchidism OMIM:619797
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Short stature, Short neck OMIM:616455
Bruck Syndrome
Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Pterygium ORPHA:2771
Ovarian Dysgenesis 3
Aplasia of the ovary, Primary amenorrhea, Female infertility, Delayed puberty OMIM:614324
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Corneal opacit... OMIM:253220
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short stature, Short neck, Kyphosis, Scoliosis, Arrhythmia ORPHA:3191
Icf Syndrome
Macroglossia, Umbilical hernia, Abnormality of chromosome stability, Short stature ORPHA:2268
Anauxetic Dysplasia 1
Hip contracture, Severe short stature, Rhizomelia, Lumbar hyperlordosis, Short neck, Elbow flexio... OMIM:607095
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Inguinal hernia, Kyphosis, Umbilical hernia, Nephroblastoma OMIM:618272
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia ORPHA:319199
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Exercise intolerance, Skeletal muscle atrophy, Cataract, Facial palsy, Ragged-red muscle fibers, ... OMIM:157640
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchiectasis, Abnormal p... OMIM:612387
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Short neck, Weight loss, Severe short-limb dwarfism, Hernia, Failure to thrive ORPHA:1842
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Hypoplastic sacrum, Rhizomelia, Small for gestational age, Oligozoospermia, Growth delay, Clitora... OMIM:614813
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Dentinogenesis imp... OMIM:259440
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Hypoglycemia, Microvesicular hepatic steatosis, Macronodular cirrhosis, Growth dela... OMIM:619418
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... OMIM:616503
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Sparse axillary hair, ... ORPHA:99429
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Sparse eyebrow, Leukonychia, Scoliosis,... ORPHA:77258
Hemifacial Atrophy, Progressive
Trigeminal neuralgia, Kyphosis OMIM:141300
Isolated Complex I Deficiency
Intrauterine growth retardation, Diabetes mellitus, Hypoglycemia, Hepatomegaly ORPHA:2609
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Short stature, Kyphosis, Macroglossia, Scoliosis ORPHA:79107
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Propionyl-CoA carboxylase deficiency, Hypoglycemia OMIM:210210
Cockayne Syndrome Type 2
Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Developmental cataract, Conjunctivitis, ... ORPHA:90322
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Short stature, Proportionate short stature, Irregular vertebral endplates, ... OMIM:156500
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Arthralgia, Be... OMIM:215150
Nail-Patella Syndrome
Back pain, Keratoconus, Biceps aplasia, Lumbar hyperlordosis, Short stature, Cataract, Absence of... OMIM:161200
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pulmonary artery ste... OMIM:280000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build OMIM:603041
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Flexion contracture, Absence of subcutaneous fat, Generalized li... OMIM:614098
Spondyloepimetaphyseal Dysplasia, Shohat Type
Severe short stature, Hyperlordosis, Short neck, Disproportionate short stature, Platyspondyly, S... ORPHA:93352
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation OMIM:609069
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of toe, Nuclear cataract, Lumbar hyperlordosis, Camptodactyly of finger ORPHA:2848
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Short stature, Hyperlordosis, Scoliosis, Failure to thrive OMIM:300986
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Disproportionate short stature, Irregular vertebral endplates, Platyspondyl... OMIM:609616
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Lumbar hyperlordosis, Lester's sign, Contracture of the distal ... ORPHA:2614
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Poland Syndrome
Retinal hamartoma, Abnormality of the liver, Neoplasm of the breast, Acute leukemia ORPHA:2911
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Short stature, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Butterfly ver... OMIM:618870
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis OMIM:617821
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Short stature, Hypoglycemia OMIM:618005
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortenin... ORPHA:2839
Wiedemann-Rautenstrauch Syndrome
Hypoplastic vertebral bodies, Loss of facial adipose tissue, Short stature, Cryptorchidism, Pulmo... ORPHA:3455
Microsporidiosis
Myositis, Cachexia, Keratitis, Abnormal endometrium morphology, Keratoconjunctivitis, Weight loss... ORPHA:2552
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Glandular hypospadias, Growth de... ORPHA:1439
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis, Disproportionate short-limb short stature OMIM:146000
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... OMIM:607765
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Short stature, Cryptorchidism, Kyphosis, Macroglossia, Delayed pube... OMIM:300354
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:1858
Mirage Syndrome
Short stature, Hypoglycemia, Cryptorchidism, Intrauterine growth retardation, Decreased testicula... OMIM:617053
15Q24 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Kyphosis, Cryptorch... ORPHA:94065
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Cirrhosis, Ascites, ... ORPHA:77259
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, ... ORPHA:540
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Cataract, Centrally nucleated sk... OMIM:607459
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... ORPHA:137834
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Hypoglycemia, Neonatal hypoglycemia OMIM:619055
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Inguinal hernia, Scapular winging, Block vertebrae, Cataract, Short neck, Hyper... OMIM:272460
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short stature, Urinary incontinence, Facial palsy, Short neck, Kyphosis, Achille... OMIM:301041
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:235555
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Nephroblastoma OMIM:612918
Trichorhinophalangeal Syndrome, Type I
Scapular winging, Short stature, Slow-growing hair, Hyperlordosis, Leukonychia, Fine hair, Growth... OMIM:190350
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Rhizomelia, Hypoglycemia OMIM:607143
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, B... OMIM:619381
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity, Cachexia, Growth delay, Azoospermia, Scoliosis, Delayed puberty, Thoracolumbar k... ORPHA:2072
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Lumbar hyperlordosis, Rhizomelia, Short stature, Cryptorchidism, Joint contracture OMIM:602471
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis OMIM:112350
Eosinophilic Fasciitis
Myositis, Fasciitis, Weight loss, Cellulitis, Muscular edema ORPHA:3165
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Lumbar hyperlordosis, Disproportionate short-trunk short stature, Platyspondyly OMIM:271650
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Short stature, Opacification of the corneal stroma, Spina bifida... OMIM:169550
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal h... OMIM:615688
3C Syndrome
Inguinal hernia, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hemivertebrae... ORPHA:7
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Smith-Mccort Dysplasia 2
Short stature, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Disproportionate sh... OMIM:615222
Revesz Syndrome
Abnormality of chromosome stability, Leukocoria, Fine hair, Nail dystrophy, Sparse hair, Intraute... OMIM:268130
Steel Syndrome
Lumbar hyperlordosis, Short stature, Scoliosis OMIM:615155
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Macroglossia, Ovar... ORPHA:2221
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis OMIM:609541
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Short neck, Disproportionate short... ORPHA:1427
Schaaf-Yang Syndrome
Short stature, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Camptodactyly, Arthrogry... OMIM:615547
Gm1-Gangliosidosis, Type I
Inguinal hernia, Severe short stature, Short neck, Kyphosis, Congestive heart failure, Dilated ca... OMIM:230500
Rhizomelic Syndrome, Urbach Type
Short stature, Rhizomelia, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Pulmonic ... ORPHA:3098
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Myositis, Failure to thrive in infancy, Cachexia, Nail dystrophy ORPHA:37042
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigue, Exercise intolerance, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes,... ORPHA:365
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Hepat... OMIM:229600
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis... ORPHA:15
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, Scoliosis, Med... OMIM:162300
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Neoplasm of the skin ORPHA:53715
Barber-Say Syndrome
Cryptorchidism, Lipodystrophy OMIM:209885
Weill-Marchesani Syndrome 2
Iridodonesis, Lumbar hyperlordosis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, E... OMIM:608328
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:134
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:17
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Short stature, Abnormal dental... ORPHA:2916
Emanuel Syndrome
Sacral dimple, Inguinal hernia, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Cryptorch... OMIM:609029
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Bronchogenic cyst, Hemangioma, Subcutaneous lipoma, Exostoses ORPHA:2969
Marden-Walker Syndrome
Inguinal hernia, Decreased muscle mass, Short neck, Postnatal growth retardation, Kyphosis, Crypt... OMIM:248700
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Disproportionate sho... ORPHA:174
Hurler Syndrome
Aortic regurgitation, Inguinal hernia, Short stature, Corneal opacity, Short neck, Hypoplasia of ... OMIM:607014
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Growth delay, Intrauterine growth retardation, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Distal amyotrophy, Lumbar hyperlordosis, Limb muscle weakness, Scoliosis OMIM:601152
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Bowel incontinence, Kyphosis, Chronic pain, Scoliosis, Camptodactyly, Flexion contractu... ORPHA:88628
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia OMIM:616878
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia ORPHA:35173
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Macrogl... ORPHA:583
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:85414
Osteopathia Striata-Cranial Sclerosis Syndrome
Cataract, Severe short stature, Facial palsy, Hyperlordosis, Scoliosis, Spina bifida occulta ORPHA:2780
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis ORPHA:1883
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Chronic pain, Spondylolysis, Scoliosis, Enamel hypoplasia, S... ORPHA:763
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Leigh Syndrome
Abnormal circulating enzyme concentration or activity, Hypoglycemia, Growth delay, Intrauterine g... ORPHA:506
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Corneal opacity, Short neck, Small f... ORPHA:1830
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Flexion contracture, Abnormal ovarian morphology, Micropenis, Abnormal verteb... ORPHA:95699
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
8P23.1 Microdeletion Syndrome
Short stature, Hypospadias, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Obesity,... ORPHA:251071
Hallermann-Streiff Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Small for gestational age, Proportionate short sta... OMIM:234100
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Hypoketotic hypoglycemia ORPHA:746
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia, Lymph... OMIM:603553
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Jaundice, Hypoglycemia ORPHA:90790
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:617143
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Juvenile Polyposis Of Infancy
Cachexia, Freckled genitalia, Short stature, Subcutaneous lipoma ORPHA:79076
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Kyphosis, Lens subluxation, Pulmonic stenosis, Scoliosis OMIM:609008
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture, Mitral regurgita... OMIM:603387
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Aganglionic megacolon, Small cell lung carcinoma, Acute lym... ORPHA:821
Urban-Rogers-Meyer Syndrome
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Flexion contracture... ORPHA:3409
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Short stature, Postnatal growth retardation, Flexion contracture, Genera... OMIM:619127
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Frontal hirsuti... OMIM:612949
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Cataract, Short stature, Lipoatrophy, Short neck, Cryptorchi... OMIM:264090
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, A... OMIM:253200
Mucopolysaccharidosis, Type X
Hyperlordosis, Disproportionate short-trunk short stature, Platyspondyly, Posterior scalloping of... OMIM:619698
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Reduced carnitine O-palmitoyltransferase level, Hepatic fail... ORPHA:157
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Limbal stem cell deficiency... ORPHA:2334
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Short stature, Hypoglycemia, Portal hypertension, Cholestasis, Gro... OMIM:613658
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Torticollis, Short neck, Macroglossia, Increased variability in ... OMIM:617022
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Hypoketotic hypoglycemia ORPHA:26793
Sotos Syndrome
Glucose intolerance, Prolonged neonatal jaundice, Neonatal hypoglycemia, Cryptorchidism OMIM:117550
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Esophageal stenosis, Ab... ORPHA:1775
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the odontoid proces... OMIM:223800
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Stickler Syndrome, Type I
Cataract, Kyphosis, Platyspondyly, Arthralgia, Morbus Scheuermann, Scoliosis, Beaking of vertebra... OMIM:108300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Neonatal hypoglycemia ORPHA:457485
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Urinary incontinence, Bowel incontinence,... OMIM:616482
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Torticollis, Metrorrhagia, Precocious puberty, Wei... ORPHA:370348
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Hypoglycemia, Hepatitis ORPHA:199299
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Platyspondyly, Disproportionate short-limb short stature, Scoli... OMIM:602557
Distal Deletion 10Q
Failure to thrive, Lumbar hyperlordosis, Short stature, Scapular winging, Postnatal growth retard... ORPHA:96148
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Failure to thrive in infancy, Increased vertebral ... OMIM:613385
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Growth delay, Scoliosis, Intrauterine growth retardation ORPHA:238750
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Lipid accumulatio... ORPHA:20
Ruvalcaba Syndrome
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphys... ORPHA:3121
Kabuki Syndrome 2
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:300867
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordosis, Proxim... ORPHA:268
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss ORPHA:30925
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Malabs... ORPHA:379
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short stature, Short neck, Cryptorchidism, Kyphosis, Hernia of the abdominal wall ORPHA:3082
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Celiac Disease, Susceptibility To, 1
Alopecia, Short stature, Postnatal growth retardation, Weight loss, Infertility, Delayed puberty,... OMIM:212750
Distal Triplication 15Q
Corneal dystrophy, Kyphosis, Flexion contracture, Hydrocele testis, Hernia, Scoliosis, Intrauteri... ORPHA:314588
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Rhizomelia, Short stature, Thoracic platyspondyly, Syno... OMIM:619636
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Short neck, Kyphosis, Cryptorchidism, Mitral regurgitation, Scoliosis, Intr... ORPHA:254346
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Short stature, Hypoglycemia,... ORPHA:79259
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Abnormal circulating enzyme concentration or activity, Neonatal ... ORPHA:572798
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Postnatal growth retardation, Cryptorchidism, Insulin resistance, Severe intrauterine growth reta... ORPHA:96182
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
X-Linked Agammaglobulinemia
Alopecia, Short stature, Weight loss, Conjunctivitis, Cellulitis, Failure to thrive ORPHA:47
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Short stature, Cataract, Proportionate short stature, Ectopia lentis, Micro... OMIM:277600
Huntington Disease
Weight loss, Decreased body mass index, Abnormal libido ORPHA:399
Huntington Disease-Like 2
Weight loss OMIM:606438
Osteogenesis Imperfecta, Type Iii
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Pulmonary arterial hypertension, ... OMIM:259420
Myopathy With Lactic Acidosis, Hereditary
Exercise intolerance, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellul... OMIM:255125
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Alg1-Cdg
Kyphosis, Scoliosis, Cardiomyopathy ORPHA:79327
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Synophrys, Obesity, Astigmatism, Hirsutism OMIM:616078
Saethre-Chotzen Syndrome
Short stature, Abnormal hair pattern, Hyperlordosis, Cryptorchidism, Low anterior hairline, Abnor... ORPHA:794
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Disproportiona... OMIM:177170
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling OMIM:615595
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Hypogonadotropic hypogonadism, Weight loss, Infertility, Erectile dysfunct... ORPHA:465508
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Disproportionate short-limb short ... ORPHA:2655
Glycogen Storage Disease Vii
Exercise intolerance, Increased muscle glycogen content, Exercise-induced myalgia, Myalgia, Incre... OMIM:232800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, External genital hypoplasia, Short neck, Postnatal growth retardation, Cryp... ORPHA:251028
Desbuquois Dysplasia 2
Severe short stature, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Synophrys, ... OMIM:615777
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female in... ORPHA:99413
Mosaic Monosomy X
Alopecia, Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female in... ORPHA:99228
Monosomy X
Alopecia, Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female in... ORPHA:99226
Turner Syndrome
Alopecia, Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female in... ORPHA:881
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Highly arched e... OMIM:619173
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl... OMIM:618019
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Umbilical hernia, Mild short stature, Foot dorsiflexor weakness OMIM:169400
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Cryptorchidism, Testicular adrenal rest tumor, Hypoglycemic seizures, Azoos... ORPHA:361
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Reduced carnitine O-palmitoyltransferase level, Hepatic fail... ORPHA:228308
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Ovoid vertebral bodies, Platyspondyly, Lumbar hyperlordosis, Disproportionate short-limb short st... OMIM:608728
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Inguinal hernia, Severe short stature, Congenital muscular torticollis, ... ORPHA:2215
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Cataract ORPHA:324737
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Neoplasm, Hypertension, Skeletal muscle atrophy OMIM:219080
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Sacral dimple, Fair hair, Alopecia, Small for gestational age, Testicular ne... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Sacral dimple, Fair hair, Alopecia, Small for gestational age, Testicular ne... ORPHA:363958
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Hypoglycemia OMIM:620224
Opitz-Kaveggia Syndrome
Sacral dimple, Lumbar hyperlordosis, Short stature, Multiple joint contractures, Inguinal hernia,... OMIM:305450
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Adenoma se... ORPHA:3353
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Decreased testicular size, Cryptorchidism OMIM:615433
Glycerol Kinase Deficiency
Growth delay, Cryptorchidism, Short stature, Hypoglycemia OMIM:307030
Progeroid Short Stature With Pigmented Nevi
Thoracic scoliosis, Premature ovarian insufficiency, Short stature, Cataract, Lack of facial subc... OMIM:176690
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Short stature, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocorn... ORPHA:2479
Hirschsprung Disease
Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Ocular pain, Abnormal anterior ch... ORPHA:67043
Harrod Syndrome
Cataract, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth retardation ORPHA:2115
Cartilage-Hair Hypoplasia
Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Fair hair, Sparse eyebrow, Hypoplasia... OMIM:250250
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Short stature, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the ver... ORPHA:93360
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Micro Syndrome
Cataract, Short stature, Kyphosis, Cryptorchidism, Microcornea, Scoliosis, Delayed puberty, Intra... ORPHA:2510
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short stature, Ovoid vertebral... ORPHA:93315
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Abnormal dental enamel morphology, Kyphosis, Moderate postnatal growth reta... ORPHA:1005
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Smith-Mccort Dysplasia 1
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Glycogen Storage Disease Ic
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory tract infecti... OMIM:232240
Alexander Disease
Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Bowel incontinence, Recu... ORPHA:58
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Short stature, Hyperlordosis, Limb-girdle muscular dystrophy, Scoliosis, Intrauterine g... OMIM:615356
Atypical Rett Syndrome
Growth delay, Kyphosis, Scoliosis ORPHA:3095
Juvenile Huntington Disease
Weight loss ORPHA:248111
Generalized Glucocorticoid Resistance Syndrome
Frontal balding, Precocious puberty, Oligozoospermia, Infertility, Oligomenorrhea, Ambiguous geni... ORPHA:786
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Curly hair, Sacral dimple, Short neck, Hyperlordosis, Low an... OMIM:619950
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Cataract, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Kyph... ORPHA:77301
Shigellosis
Hepatic failure, Hypoglycemia, Cholestasis ORPHA:810
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Mucopolysaccharidosis, Type Ii
Inguinal hernia, Severe short stature, Short stature, Short neck, Kyphosis, Congestive heart fail... OMIM:309900
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Focal Myositis
Myositis, Weight loss ORPHA:48918
Leprechaunism
Hepatomegaly, Postnatal growth retardation, Insulin resistance, Hyperinsulinemia, Recurrent infan... ORPHA:508
Glutaryl-Coa Dehydrogenase Deficiency
Abnormal circulating enzyme concentration or activity, Fasting hypoglycemia ORPHA:25
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Cataract, Kyphosis, Microcornea, Scoliosis, Pulmonary arterial hypertension OMIM:616449
Hennekam Syndrome
Benign neoplasm of the central nervous system, Recurrent respiratory infections, Malabsorption, S... ORPHA:2136
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Thick hair, Short neck, Flexion contracture, Lumbar kyphosis, Macroglossia,... ORPHA:505248
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233710
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Optic Atrophy 11
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping OMIM:617302
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Stiff-Person Syndrome
Proximal limb muscle stiffness, Lumbar hyperlordosis, Asymmetric limb muscle stiffness, Axial mus... OMIM:184850
Pfeiffer Syndrome
Hyperlordosis, Short stature, Short neck ORPHA:710
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Abnormal pupil morphology, Scoliosis ORPHA:236
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Cataract, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion ... ORPHA:3042
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Facial hypotonia, Kyphosis, Cryptorchidism, Scoliosis, Abnormality of muscle size ORPHA:364028
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased stool urobilinogen concentration, Sple... ORPHA:79277
Myasthenic Syndrome, Congenital, 19
Exercise intolerance, Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity OMIM:616720
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
Alg12-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Cryptorchid... ORPHA:79324
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Short stature, Scoliosis ORPHA:261190
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Disproportionate short stature, Thoraco... OMIM:602875
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Decreased muscle mass, Short stature, Short neck, Kyphosis, Cr... OMIM:130720
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Posterior subcapsular cataract, Platyspondyly, ... OMIM:271510
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Short neck, Thoracic platy... ORPHA:457395
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233690
Koolen-De Vries Syndrome
Vertebral fusion, Cataract, Short stature, Abnormal dental enamel morphology, Kyphosis, Cryptorch... ORPHA:96169
Distal 22Q11.2 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Bowel incontinence, Hyperlordosi... ORPHA:261330
Pyruvate Carboxylase Deficiency
Growth delay, Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:3008
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Atelectasis, Recurrent pneumonia, Lymph... OMIM:306400
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Beckwith-Wiedemann Syndrome
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Adrenocortical carcinoma, Exocrine ... ORPHA:116
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Growth delay, Intrauterine growth retardation, Jaundice, Hypoglycemia ORPHA:79282
Stiff Person Spectrum Disorder
Lumbar hyperlordosis, Paraspinal muscle hypertrophy ORPHA:3198
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Moderate postnatal growth retardation, Knee flexion contracture, Coars... OMIM:118650
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Holocarboxylase Synthetase Deficiency
Growth delay, Alopecia, Weight loss, Keratoconjunctivitis ORPHA:79242
Cole-Carpenter Syndrome 2
Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Dentinogenesis imperfecta OMIM:616294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Increased variability in muscle fiber diameter, Cataract, Muscular dystrophy OMIM:616538
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Urinary incontinence, Kyphosis, Scoliosis, Lower limb muscle weakness ORPHA:88644
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Cataract, Short stature, Iris hypopigmentation, Kyphosis, Crypto... OMIM:610443
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Hepatomegaly, Hepatic failure, Hypoglycemia OMIM:252010
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Classic Homocystinuria
Gastrointestinal hemorrhage, Cataract, Pulmonary embolism, Ectopia lentis, Kyphosis, Intracranial... ORPHA:394
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Bone pain ORPHA:85193
Trisomy 20P
Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... ORPHA:261318
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Cholelithiasis OMIM:301066
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Bone pain, Abn... ORPHA:2062
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Short stature ORPHA:93274
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Cataract ORPHA:70595
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Fatigue, Kyphosis, Scapular winging, Scoliosis OMIM:617061
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Short stature, Hypoglycemia, Growth delay, Delayed puberty, Decreased testicu... ORPHA:90695
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth retarda... ORPHA:2075
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Limb hypertonia ORPHA:500180
Cholera
Hypoglycemia ORPHA:173
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter OMIM:604377
Pleural Mesothelioma
Weight loss ORPHA:50251
Langer Mesomelic Dysplasia
Mesomelic short stature, Lumbar hyperlordosis OMIM:249700
Spondyloarthropathy, Susceptibility To, 1
Back pain, Aortic regurgitation, Kyphosis, Enthesitis, Sacroiliac arthritis, Arrhythmia OMIM:106300
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... OMIM:618223
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endplates, ... OMIM:226980
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Hypertension, Biconcave vertebral bodies, V... OMIM:219090
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Menometrorrhagia, Abnormal dental enamel morphology, Ocular a... ORPHA:79430
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Kyphosis, Macroglossia, Scoliosis ORPHA:261144
Pituitary Apoplexy
Hypoglycemia ORPHA:95613
Alstrom Syndrome
Short stature, Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Scoliosi... OMIM:203800
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Astigmatism, Scoliosis OMIM:618493
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro... ORPHA:958
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Cryptorchidism, Elbow flexion contracture, Knee flexion co... OMIM:619194
Spondyloenchondrodysplasia
Enchondroma, Short stature, Raynaud phenomenon, Kyphosis, Vasculitis, Disproportionate short-trun... ORPHA:1855
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Cataract, Short stature, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:192
Fountain Syndrome
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Obesity, Disproportionate short-limb short stature, Scoliosis, Anterior pol... OMIM:250420
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Weight loss, Punctate keratitis, Failure to thrive ORPHA:92050
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Azoospermia, Decreased testicular size, Neonatal hypoglycemia ORPHA:90791
Cole-Carpenter Syndrome
Short stature, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:2050
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Cryptorchidism, Hemivertebrae, Growth del... OMIM:301040
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Inguinal hernia, Camptodactyly of finger, Facial palsy, Kyphosis, Growth de... ORPHA:261349
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis OMIM:211530
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Cataract, Mild postnatal growth retardation, Kyphosis, Flexion contractu... ORPHA:90324
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Dry hair, Short stature, Diastasis recti, Postnatal growth reta... ORPHA:576
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Ambiguous genitalia, female, Abnormal ovarian physiology, Short stature, Hypo... ORPHA:90794
Helsmoortel-Van Der Aa Syndrome
Short stature, Facial palsy, Hyperlordosis, Cryptorchidism, Obesity, Truncal obesity, Astigmatism... OMIM:615873
Cystic Echinococcosis
Abnormality of the testis size, Weight loss, Ovarian cyst, Abnormality of the vertebral column, A... ORPHA:400
Menkes Disease
Intrauterine growth retardation, Hypoglycemia, Prolonged neonatal jaundice ORPHA:565
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi... ORPHA:91347
Congenital Heart Defects And Skeletal Malformations Syndrome
Short stature, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyl... OMIM:617602
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Umbilical hernia, Hypertrichosis, Low posterior hairline, Hyperlordosis ORPHA:221139
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Growth delay, Pituitary dwarfism, Hypoglycemia, Prolonged neonatal jaundice ORPHA:226307
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Acute Liver Failure
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... ORPHA:90062
Huntington Disease-Like 1
Weight loss ORPHA:157941
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Lipodystrophy, Kyphoscoliosis, Catara... ORPHA:79318
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... OMIM:612301
Aicardi-Goutieres Syndrome 9
Weight loss, Lower limb hypertonia, Scoliosis, Left ventricular hypertrophy, Intrauterine growth ... OMIM:619487
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Rhizomelia, Short neck OMIM:612813
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cavernous hemangioma of the face, Recurrent pneumonia, Acute myelomonocytic leukemia, Cavernous h... ORPHA:99646
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... ORPHA:567983
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Short stature, Corneal erosion, Weight loss, Conjunctiviti... ORPHA:37
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Short stature, Short neck, Kyphosis, Cryptorchidism, Pulm... OMIM:619745
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Flexion contracture, Irregular vertebral endplates, Arthralgia, Lumbar hyperlordosis,... OMIM:143095
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Thoracic scoliosis, Widened atrophic scar, Sacral dimple, Inguinal hernia, Kyphos... ORPHA:536532
Jaberi-Elahi Syndrome
Kyphosis, Cataract, Scoliosis OMIM:617988
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss ORPHA:324964
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Kyphosis, Atrioventricular b... ORPHA:392
Acute Adrenal Insufficiency
Hypoglycemia, Delayed puberty ORPHA:95409
Perlman Syndrome
Cryptorchidism, Hypoglycemia OMIM:267000
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl... OMIM:164310
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele ORPHA:71273
Addison Disease
Type I diabetes mellitus, Primary testicular failure, Hypoglycemia, Delayed puberty ORPHA:85138
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Weight loss OMIM:188580
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Lumbar kyphosis in infancy, Spinal stenosis with reduced interp... OMIM:100800
Multiple Endocrine Neoplasia, Type I
Hypoglycemia OMIM:131100
Holoprosencephaly
Cryptorchidism, Diabetes mellitus, Hypoglycemia ORPHA:2162
Tetrasomy 9P
Sacral dimple, Myositis, Abnormal dental enamel morphology, Short neck, Cryptorchidism, Oligozoos... ORPHA:3310
Hajdu-Cheney Syndrome
Inguinal hernia, Cataract, Mitral stenosis, Short stature, Short neck, Hypoplastic 5th lumbar ver... ORPHA:955
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Rhizomelia, Short neck ORPHA:171866
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Sheehan Syndrome
Hypoglycemia ORPHA:91355
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Severe short stature, Postnatal growth retardation, Kyphosis... OMIM:133540
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Progressive flexion contractures, Abnormal location of the eyebrow, Widow's... ORPHA:522077
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Limb hypertonia, Intrauterine growth retardation OMIM:619909
Wolf-Hirschhorn Syndrome
Sacral dimple, Congenital diaphragmatic hernia, Sclerocornea, Kyphosis, Cryptorchidism, Abnormal ... ORPHA:280
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Increased intervertebral space, Irregular ve... OMIM:607944
Takayasu Arteritis
Weight loss ORPHA:3287
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Weight loss ORPHA:142
Iniencephaly
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... ORPHA:63259
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconc... OMIM:259770
Perry Syndrome
Weight loss ORPHA:178509
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... OMIM:181000
16Q24.3 Microdeletion Syndrome
Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Astigmatism, Scoliosis ORPHA:261250
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Cataract, Short stature, Kyphosis, Enamel h... OMIM:216400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Corneal opacity, Ankle flexion contracture, Kyphosis, Cryptorchidism, Birth... ORPHA:464311
Deeah Syndrome
Hepatomegaly, Short stature, Cryptorchidism, Intrauterine growth retardation, Neonatal hypoglycemia OMIM:619004
Lymphedema-Distichiasis Syndrome
Kyphosis, Conjunctivitis, Recurrent corneal erosions, Cellulitis, Arrhythmia, Corneal ulceration OMIM:153400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Synophrys, Flexion contracture, Knee flexion contracture, Arthralgia, Diaphragmatic eventration, ... OMIM:619503
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Ve... ORPHA:251014
Williams Syndrome
Hypoplasia of penis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Megalo... ORPHA:904
Branchiooculofacial Syndrome
Cataract, Hypospadias, Facial palsy, Supernumerary nipple, Hyperlordosis, Postnatal growth retard... OMIM:113620
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Kyphosis, Developmental cataract, Microcornea, Scoliosis, Pulmonary arterial hyp... ORPHA:464738
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Short stature, Hypospadias, Cryptorchidism, Widow's peak, Scoliosis, Peters... OMIM:616975
Polymyositis
Abnormal muscle fiber morphology, Chondrocalcinosis, Weight loss ORPHA:732
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
3-Methylglutaconic Aciduria, Type Viii
Growth delay, Jaundice, Neonatal hypoglycemia OMIM:617248
Cystinosis, Nephropathic
Male infertility, Skeletal muscle atrophy, Hypopigmentation of hair, Short stature, Failure to th... OMIM:219800
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Aspartylglucosaminuria
Cataract, Short stature, Kyphosis, Macroglossia, Platyspondyly, Mitral regurgitation, Spondylolys... OMIM:208400
Primary Fanconi Renotubular Syndrome
Growth delay, Hypoglycemia, Glycosuria ORPHA:3337
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis, Cryptorchidism ORPHA:404440
Marshall-Smith Syndrome
Omphalocele, Thoracic scoliosis, Short stature, Kyphoscoliosis, Bilateral cryptorchidism, Hypopla... OMIM:602535
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, Retinal hemorrhage, ... OMIM:177850
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia ORPHA:137675
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Sponastrime Dysplasia
Lumbar hyperlordosis, Rhizomelia, Cataract, Kyphoscoliosis, Small for gestational age, Microcoria... ORPHA:93357
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... OMIM:271700
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Pituitary adenoma, Arthralgia, Body odor OMIM:300942
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis ORPHA:500055
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Lethal short-limbed short stature ORPHA:1860
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Weight loss ORPHA:171876
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Short stature, Corneal opacity, Kyphosis, Cryp... ORPHA:464306
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Dentinogenesis imperfecta OMIM:166220
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Sparse eyebrow... ORPHA:457359
Osteogenesis Imperfecta
Cervical kyphosis, Flexion contracture, Bone pain, Abnormal form of the vertebral bodies, Arthral... ORPHA:666
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Tricuspid regurgitation, Short stature, Short neck, Kyphosis, Cryptor... OMIM:616894
Nephroblastoma
Aniridia, Weight loss ORPHA:654
Cohen Syndrome
Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Intrauterine growth retardat... ORPHA:193
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Sparse eyebrow, Kyphosis, Hyperlordosis, Scoliosis OMIM:617011
Neurooculorenal Syndrome
Postnatal growth retardation, Cryptorchidism, Recurrent hypoglycemia OMIM:620305
Alkaptonuria
Vertebral fusion, Low back pain, Diminished physical functioning, Kyphosis, Arthralgia, Thickened... OMIM:203500
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Weight loss ORPHA:95427
Weaver Syndrome
Inguinal hernia, Diastasis recti, Kyphosis, Cryptorchidism, Hydrocele testis, Scoliosis, Camptoda... OMIM:277590
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short stature, Kyphosis, Bilateral camptodactyly, Growth delay, Scoliosis OMIM:619557
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis, Prominent protruding coccyx, P... OMIM:300966
Kaposi Sarcoma
Weight loss ORPHA:33276
Marden-Walker Syndrome
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal form o... ORPHA:2461
Acute Promyelocytic Leukemia
Metrorrhagia, Weight loss ORPHA:520
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Flexion contracture, Weight loss, Enthesitis, Abnormality of t... ORPHA:85408
Nodular Non-Suppurative Panniculitis
Panniculitis, Weight loss ORPHA:33577
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Hepatomegaly, Hamartoma, Aplasia of the epiglottis OMIM:617088
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Platyspondyly, Severe short stature, Kyphoscoliosis OMIM:184253
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormality of the Leydig cells, Delayed puberty, Decreased testicular size, Neon... ORPHA:168558
Thymic Carcinoma
Weight loss ORPHA:99868
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormality of the Leydig cells, Delayed puberty, Decreased testicular size, Neon... ORPHA:289548
Igg4-Related Aortitis
Low back pain, Weight loss ORPHA:449400
Yao Syndrome
Keratoconjunctivitis sicca, Weight loss OMIM:617321
Chronic Beryllium Disease
Weight loss ORPHA:133
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, V... OMIM:610915
Osteosarcoma
Weight loss ORPHA:668
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Cardi... OMIM:212065
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Cryptorchidism, C... OMIM:309000
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Developmental glaucoma, Growt... OMIM:249420
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Abnormal cornea morphology OMIM:244400
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Failure to thrive, Abnormality of connective tissue, Weight loss ORPHA:79128
Smith-Lemli-Opitz Syndrome
Cataract, Short stature, Rhizomelia, Abnormal dental enamel morphology, Short neck, Congenital di... ORPHA:818
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Inguinal hernia, Cataract, Short stature, Abnormal... ORPHA:534
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele ORPHA:49041
Rheumatoid Arthritis
Digital flexor tenosynovitis, Weight loss OMIM:180300
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Cryptorchidism, Hypoglycemia, Hepatomegaly ORPHA:373
Marburg Hemorrhagic Fever
Orchitis, Jaundice, Hypoglycemia, Elevated hepatic transaminase ORPHA:99826
Prader-Willi Syndrome
Decreased muscle mass, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Intra... OMIM:176270
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Loeffler Endocarditis
Left ventricular hypertrophy, Weight loss ORPHA:75566
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Short nail, Disproportionate short s... OMIM:607778
Holoprosencephaly 1
Short stature, Hypoglycemia OMIM:236100
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Kyphosis, Pulmonic stenosis, Camptodactyly OMIM:619123
Atelis Syndrome 2
Sacral dimple, Kyphosis, Supravalvar pulmonary stenosis, Developmental cataract, Vitreous hemorrh... OMIM:620185
Oromandibular Dystonia
Torticollis, Weight loss ORPHA:93958
Polyarteritis Nodosa
Weight loss ORPHA:767
Cap Polyposis
Weight loss ORPHA:160148
Bullous Pemphigoid
Weight loss ORPHA:703
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Ramon Syndrome
Short stature, Kyphosis, Gingival fibromatosis, Telangiectasia, Axenfeld anomaly, Scoliosis OMIM:266270
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Magel2-Related Prader-Willi-Like Syndrome
Short stature, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Decreased testicular size ORPHA:398069
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary dwarfism, Hypoglycemia, Growth delay, Delayed puberty, Decreased testicular size ORPHA:95494
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia ORPHA:293978
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Aortic regurgitation, Fatigue, Cataract, Torticollis, Abdominal pain, Kyphosis, Conges... OMIM:619475
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis ORPHA:140
Mend Syndrome
Sacral dimple, Cataract, Short stature, Kyphosis, Cryptorchidism, Aortic valve stenosis, Anterior... OMIM:300960
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body OMIM:618476
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Hypertension OMIM:610475
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Stevens-Johnson Syndrome
Dyspareunia, Corneal erosion, Conjunctivitis, Weight loss ORPHA:36426
Mend Syndrome
Sacral dimple, Cataract, Short stature, Kyphosis, Cryptorchidism, Aortic valve stenosis, Limb hyp... ORPHA:401973
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Short stature, Macular scar OMIM:239000
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hyperglycemia, Hypoglycemia, Increased hepatocellular lipid dro... OMIM:220111
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Occipital Horn Syndrome
Orthostatic hypotension, Pelvic bone exostoses, Hiatus hernia, Kyphosis, Bladder carcinoma, Growt... OMIM:304150
Alveolar Echinococcosis
Low back pain, Abnormal skeletal muscle morphology, Weight loss, Abnormality of the diaphragm, Ab... ORPHA:284
Al Amyloidosis
Macroglossia, Autonomic erectile dysfunction, Weight loss ORPHA:85443
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Sparse scalp hair, Lumbar hyperlordosis, Torticollis, Facial hypotonia, ... OMIM:618371
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Sacral dimple, Inguinal hernia, Short stature, Cataract, Kyphosis, Cryptorc... ORPHA:268261
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Familial Colorectal Cancer Type X
Uterine neoplasm, Flexion contracture, Ovarian neoplasm, Weight loss ORPHA:440437
Alström Syndrome
Thoracic scoliosis, Hypoplasia of the Leydig cells, Micropenis, Short stature, Testicular fibrosi... ORPHA:64
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Abnormality of hair texture, Hyperlordosis, Synophrys, Hypoplastic sweat glands... ORPHA:73223
Costello Syndrome
Short stature, Hypoglycemia OMIM:218040
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Rieger anomaly, Short stature, Decreased muscle mass, Kyphosis, ... OMIM:194190
Autosomal Recessive Robinow Syndrome
Sacral dimple, Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Ve... ORPHA:1507
Perry Syndrome
Weight loss OMIM:168605
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Lynch Syndrome
Ovarian neoplasm, Flexion contracture, Weight loss ORPHA:144
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Short stature, Sco... OMIM:618050
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... ORPHA:1724
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Cryptorchidism, Neonatal hypoglycemia, Hepatomegaly OMIM:130650
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Urinary incontinence, Scoliosis ORPHA:476126
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Weight loss ORPHA:183
Pyomyositis
Myositis, Weight loss, Testicular teratoma ORPHA:764
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased heart rate variability, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth retard... OMIM:619005
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Weight loss ORPHA:221098
Malignant Atrophic Papulosis
Cataract, Weight loss ORPHA:679
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Hypomimic face, Contractures of the large joints OMIM:617527
Primary Intestinal Lymphangiectasia
Growth delay, Weight loss ORPHA:90362
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Short stature, Kyphoscoliosis, Cryptorchidism, Kyphosis, Abnormality of th... ORPHA:3063
Somatomammotropinoma
Fatigue, Kyphosis, Pituitary adenoma, Spinal canal stenosis, Hypertension, Mitral regurgitation, ... ORPHA:314769
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Severe short stature, Corneal opacity, Abnormal dental enamel morph... ORPHA:2273
Tropical Endomyocardial Fibrosis
Myocardial calcification, Cachexia ORPHA:75565
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Limb hypertonia, Contractures of the large joints ORPHA:521426
Mgat2-Cdg
Kyphosis, Arrhythmia, Scoliosis, Reflex asystolic syncope ORPHA:79329
Ménétrier Disease
Weight loss ORPHA:2494
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Giant Cell Arteritis
Alopecia, Weight loss ORPHA:397
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Gerstmann-Straussler Disease
Lower limb muscle weakness, Weight loss OMIM:137440
Acromegaly
Fatigue, Kyphosis, Spinal canal stenosis, Hypertension, Mitral regurgitation, Arthralgia, Macrogl... ORPHA:963
Fatal Familial Insomnia
Weight loss OMIM:600072
Refractory Celiac Disease
Weight loss ORPHA:398063
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Lower-limb joint contracture, Intrauterine growth retardation, Failure to thrive, Ar... ORPHA:99885
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Kyphosis, Sinus bradycardia, Astigmatism, Scoliosis OMIM:619482
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Hypertension OMIM:610489
1P36 Deletion Syndrome
Cataract, Short stature, Camptodactyly of finger, Kyphosis, Cryptorchidism, Dilated cardiomyopath... ORPHA:1606
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Corneal opacity, Alopecia totalis, Absence of subcutaneous f... ORPHA:740
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Kyphosis, Atypical scarring of skin, Pl... ORPHA:198
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Juvenile Dermatomyositis
Calcinosis, Myositis, Alopecia, Weight loss ORPHA:93672
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Inguinal hernia OMIM:609944
Coffin-Siris Syndrome 1
Sacral dimple, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Postnatal growth ... OMIM:135900
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... ORPHA:79102
Pneumocystosis
Weight loss ORPHA:723
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Severe short stature, Femoral hernia, Abnormal dental enamel morphology, Facial ... ORPHA:2658
Zttk Syndrome
Aortic regurgitation, Short stature, Kyphosis, Flexion contracture, Hemivertebrae, Growth delay, ... OMIM:617140
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Familial Osteodysplasia, Anderson Type
Kyphosis, Hypertension, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Toxic Epidermal Necrolysis
Corneal erosion, Abnormal vagina morphology, Conjunctivitis, Weight loss ORPHA:537
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Weight loss ORPHA:29072
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Cleidocranial Dysplasia 1
Short stature, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Enamel hypoplasia, S... OMIM:119600
Behçet Disease
Myositis, Cataract, Orchitis, Weight loss, Keratoconjunctivitis sicca ORPHA:117
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty OMIM:619718
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Bowel incontinence, Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness ORPHA:171629
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Knee flexion contracture OMIM:619708
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Pulmonary Alveolar Microlithiasis
Gonadal calcification, Testicular microlithiasis, Decreased fertility, Weight loss ORPHA:60025
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Granulomatosis With Polyangiitis
Keratitis, Conjunctivitis, Weight loss OMIM:608710
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Kyphosis, Cryptorchidism, Left ven... OMIM:300967
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Hereditary Late-Onset Parkinson Disease
Hypomimic face, Weight loss ORPHA:411602
Familial Pancreatic Carcinoma
Back pain, Ovarian carcinoma, Weight loss ORPHA:1333
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Weight loss ORPHA:35687
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Reactive Arthritis
Dystrophic fingernails, Weight loss, Conjunctivitis, Enthesitis ORPHA:29207
Rat-Bite Fever
Back pain, Tendonitis, Weight loss ORPHA:31205
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Proportionate sho... ORPHA:500150
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Keratoconjunctivitis sicca, Weight loss ORPHA:309031
Wrinkly Skin Syndrome
Inguinal hernia, Scapular winging, Short stature, Hypoplasia of the musculature, Kyphosis, Crypto... OMIM:278250
Brucellosis
Small for gestational age, Orchitis, Epididymitis, Weight loss, Sacroiliac arthritis, Failure to ... ORPHA:1304
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Cryptorchidism, Growth delay, Microcornea, Cil... OMIM:309800
Cdags Syndrome
Kyphosis OMIM:603116
Zollinger-Ellison Syndrome
Lipoma, Multiple lipomas, Weight loss ORPHA:913
Chronic Graft Versus Host Disease
Alopecia, Fasciitis, Phimosis, Flexion contracture, Weight loss, Keratoconjunctivitis sicca, Nail... ORPHA:99921
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Short stature, Bilateral cryptorchidism, Kyphosis, Cryp... OMIM:259050
Coffin-Lowry Syndrome
Inguinal hernia, Short stature, Kyphosis, Lumbar kyphosis, Mitral regurgitation, Scoliosis, Uteri... OMIM:303600
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Hypoglycemia OMIM:201750
African Trypanosomiasis
Alopecia, Abnormality of the menstrual cycle, Keratitis, Weight loss, Impotence, Conjunctivitis, ... ORPHA:3385
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Limb hypertonia, Weight loss OMIM:615846
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Klatskin Tumor
Weight loss ORPHA:99978
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Abnormal dental enamel morphology ORPHA:85199
Q Fever
Weight loss ORPHA:781
Ppoma
Subcutaneous lipoma, Weight loss ORPHA:97278
Cerebrocostomandibular Syndrome
Kyphosis, Short stature, Intrauterine growth retardation ORPHA:1393
Nocardiosis
Keratitis, Weight loss, Conjunctivitis, Cellulitis ORPHA:31204
Sarcoidosis
Alopecia, Cataract, Scarring, Facial palsy, Abnormal reproductive system morphology, Weight loss,... ORPHA:797
Tubulointerstitial Nephritis And Uveitis Syndrome
Cataract, Anterior chamber flare, Weight loss, Posterior synechiae of the anterior chamber, Iris ... ORPHA:91500
Somatostatinoma
Subcutaneous lipoma, Weight loss ORPHA:97283
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Granulomatosis With Polyangiitis
Prostatitis, Weight loss ORPHA:900
Grfoma
Subcutaneous lipoma, Weight loss ORPHA:97261
Vipoma
Subcutaneous lipoma, Weight loss ORPHA:97282
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Postinfectious Vasculitis
Orchitis, Weight loss ORPHA:48435
Glucagonoma
Subcutaneous lipoma, Weight loss ORPHA:97280
Castleman Disease
Weight loss ORPHA:160
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ... OMIM:300106
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Keratoconjunctivitis sicca, Abnormality of the extraocular muscles, Weight loss ORPHA:79078
Viss Syndrome
Exostosis of the external auditory canal, Epidural hemorrhage, Inguinal hernia, Short stature, Ky... OMIM:619472
Cystic Fibrosis
Male infertility, Failure to thrive OMIM:219700
Choreoacanthocytosis
Peroneal muscle atrophy, Weight loss, Myopathy, Distal amyotrophy, Muscle fiber atrophy ORPHA:2388
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Anoperineal fistula, Weight loss OMIM:301074
Pancreatoblastoma
Weight loss ORPHA:677
Igg4-Related Kidney Disease
Prostatitis, Weight loss ORPHA:449395
Tropical Pancreatitis
Weight loss ORPHA:103918
Malt Lymphoma
Weight loss ORPHA:52417
Yunis-Varon Syndrome
Cataract, Anterior concavity of thoracic vertebrae, Sclerocornea, Kyphosis, Cryptorchidism, Heart... OMIM:216340
Kikuchi-Fujimoto Disease
Alopecia, Weight loss ORPHA:50918
Goodpasture Syndrome
Weight loss OMIM:233450
Premature Chromatid Separation Trait
OMIM:176430

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 Bub1b

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 Bub1b.

No publications found that use IMPC mice or data for Bub1b.

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
Bub1btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bub1btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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