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Gene: Trappc9 MGI:1923760

Gene Summary

Name:

trafficking protein particle complex 9

Synonyms:

2900005P22Rik, TRS130, 1810044A24Rik, 4632408O18Rik, Nibp

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased CD11b-low dendritic cell number	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased monocyte cell number	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased bone mineral content	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.47×10^-18
decreased mean corpuscular hemoglobin	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.24×10^-10
decreased grip strength	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.19×10^-07
increased fasting circulating glucose level	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.02×10^-12
increased CD11b-high dendritic cell number	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating insulin level	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.94×10^-16
increased red blood cell distribution width	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.85×10^-06
decreased gamma-delta T cell number	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased lean body mass	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.12×10^-21
increased circulating sodium level	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.50×10^-05
impaired glucose tolerance	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.11×10^-09
increased mean platelet volume	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.82×10^-06
decreased KLRG1-positive NK cell number	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased Ly6C low monocyte number	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased total body fat amount	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.59×10^-24
increased Ly6C high monocyte number	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal vibrissa morphology	Trappc9^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.98×10^-05

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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.

X-ray

XRay Images Forepaw

13 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

18 Images

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Anti-nuclear antibody assay

Images

6 Images

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DSS Histology

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Trappc9^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

View all 70 images

Trappc9^{tm1a(EUCOMM)Wtsi}
abnormal snout morphology, head, asymmetric snout, malocclusion, HOM, Male, WTSI

Trappc9^{tm1a(EUCOMM)Wtsi}
head, abnormal snout morphology, asymmetric snout, malocclusion, HOM, Male, WTSI

Trappc9^{tm1a(EUCOMM)Wtsi}
abnormal coat/hair pigmentation, HOM, Male, WTSI

Trappc9^{tm1a(EUCOMM)Wtsi}
abnormal tail morphology, HOM, Male, WTSI

Human diseases caused by Trappc9 mutations

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

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

Human diseases associated with Trappc9 (2 diseases)
Human diseases predicted to be associated with Trappc9 (1170 diseases)

The table below shows human diseases associated to Trappc9 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome		Microcephaly, Obesity, Multifocal cerebral white matter abnormalities, Congenital hypothyroidism,...	ORPHA:352530
Intellectual Developmental Disorder, Autosomal Recessive 13		Mild microcephaly, Truncal obesity, Abnormal cerebral white matter morphology, Secondary microcep...	OMIM:613192

The table below shows human diseases predicted to be associated to Trappc9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Glycosylphosphatidylinositol Biosynthesis Defect 17	Overfriendliness, Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly	OMIM:618010
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero...	OMIM:232700
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short attention span, Elevated circulating thyroid-stimulating hormone concentration, Abnormal ci...	ORPHA:171706
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Frontotemporal dementia, Astrocytosis, Inappropriate behavior,...	OMIM:600795
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Obesity, Impaired social interactions, Hyperglycemia	ORPHA:329249
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Focal Cortical Dysplasia, Type Ii	Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Astrocytosis, Cognitive...	OMIM:607341
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia, Congenital alopecia totalis	ORPHA:169095
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina...	OMIM:618276
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Diffuse spongiform leukoencephalopathy, Progressive forgetfulnes...	ORPHA:282166
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Confusion, Cerebral atrophy, Astrocytosis, Dementia, Cerebral cortex with spongiform chan...	ORPHA:204
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno...	ORPHA:500166
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti...	ORPHA:486
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re...	ORPHA:324575
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Restlessness, Neurofibrillary tangles, Frontotemporal dem...	ORPHA:100070
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,...	OMIM:613845
Bleeding Disorder, Platelet-Type, 21	Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla...	OMIM:617443
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg...	OMIM:616050
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Obesity, Impaired social interactions, ...	ORPHA:254531
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Emotional lability, Obesity, Microcephaly	OMIM:309585
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Galactokinase Deficiency	Psychomotor deterioration, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadis...	ORPHA:79237
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Gait ataxia, Choreoathetosis, Basal ganglia cysts, Astrocytosis, Gait disturbance, Atroph...	ORPHA:225154
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Temple Syndrome	Relative macrocephaly, Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes o...	OMIM:616222
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia	ORPHA:46532
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu...	OMIM:612526
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati...	OMIM:601820
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Aggressive behavior, Microcephaly, Inability to walk, Simplified gyral ...	OMIM:618492
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi...	ORPHA:276580
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly...	ORPHA:276575
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc...	OMIM:608600
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst...	OMIM:620317
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Caudate atrophy, Hypertriglyceridemia, Reduced intraabdomina...	ORPHA:363400
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Cerebral atrophy, Euphoria, Fr...	OMIM:221770
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Decreased thalamic volume, Hypoplasia of the brainstem, Secondary micro...	OMIM:613668
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology...	ORPHA:467166
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An...	OMIM:224120
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hypertriglyceridemia, Cerebral atrophy	OMIM:615924
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Increased body wei...	ORPHA:276608
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Huntington Disease	Cerebellar atrophy, Gait ataxia, Bradykinesia, Depression, Dementia, Gliosis	OMIM:143100
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer...	OMIM:618108
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Cognitive impairment, Attention deficit hyperacti...	ORPHA:369873
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia...	ORPHA:2298
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Narcolepsy Type 1	Transient global amnesia, Obesity	ORPHA:2073
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Aggressive behavior, Depression, Gait ataxia, Gait disturbanc...	OMIM:618369
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,...	ORPHA:391673
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Immunodeficiency 54	Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Failure to thrive, Reduc...	OMIM:609981
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Corpus callosum atrophy, Leukoencephalopathy, Depression, Frontal lobe dementia, Bradykinesia, Ab...	OMIM:221820
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Radial club hand,...	OMIM:617053
Neutral Lipid Storage Disease With Myopathy	Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Hypopar...	ORPHA:199299
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age...	OMIM:615771
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy	OMIM:601705
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Cerebellar hypoplasia, Thin corpus callosum	OMIM:620270
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissence...	OMIM:611603
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1	ORPHA:140941
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy, Agenesis o...	OMIM:605899
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce...	OMIM:619510
Ataxia-Oculomotor Apraxia 4	Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive impairm...	OMIM:616267
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Stxbp1-Related Encephalopathy	Hyperactivity, Cerebral white matter atrophy, Ataxia, Inability to walk, Dysplastic corpus callosum	ORPHA:599373
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Osteoporosis, Delayed thelarche,...	OMIM:616033
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose ti...	ORPHA:528
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, C...	OMIM:619072
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level	OMIM:618806
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Bardet-Biedl Syndrome 5	Hypogonadism, Obesity, Cognitive impairment	OMIM:615983
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Confusion, Aggressive beh...	OMIM:607136
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity, Cognitive impairment	OMIM:619058
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr...	ORPHA:276556
Cog4-Cdg	Failure to thrive in infancy, Microcephaly, Frontotemporal cerebral atrophy, Irritability, Hypopl...	ORPHA:263501
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central hypothyroidis...	ORPHA:1667
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Cach Syndrome	Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, Flexion contracture,...	ORPHA:135
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Mehmo Syndrome	Hypoglycemia, Small for gestational age, Decreased response to growth hormone stimulation test, M...	OMIM:300148
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Hypertriglyceridemia, Transient Infantile	Failure to thrive, Hypertriglyceridemia	OMIM:614480
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum	OMIM:613162
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb...	ORPHA:208441
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Immunodeficiency 43	Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi...	OMIM:241600
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
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
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst...	ORPHA:255182
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Coasy Protein-Associated Neurodegeneration	Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Cognitive impairment, E...	ORPHA:397725
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Inguinal hernia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy...	OMIM:612541
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Limb ataxia, S...	OMIM:617695
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Delayed early-childhood so...	ORPHA:300570
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Supranuclear Palsy, Progressive, 1	Neuronal loss in basal ganglia, Akinesia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuo...	OMIM:601104
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Severe B lymphocytopenia, Decreased circulating cortisol level, Alopecia ...	ORPHA:293978
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, Demen...	OMIM:618193
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Megalencephaly, Inability to walk, Astrocytosis, Difficulty walking, Slender build	OMIM:611087
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
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Basal Ganglia Calcification, Idiopathic, 5	Cerebral calcification, Basal ganglia calcification, Depression, Dementia, Thalamic calcification...	OMIM:615483
Alexander Disease Type I	Cachexia, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Abnormal cerebral whi...	ORPHA:363717
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Thrombocytosis, Small for gestational age, Increased mean...	ORPHA:84064
Leukoencephalopathy With Vanishing White Matter 1	Premature ovarian insufficiency, Unsteady gait, Cessation of head growth, Secondary amenorrhea, E...	OMIM:603896
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Large for gestational age, Abnormal circulating fatty-acid ...	ORPHA:263455
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h...	ORPHA:35878
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H...	ORPHA:3008
Obesity And Hypopigmentation	Hyperinsulinemia, Overgrowth, Obesity	OMIM:620195
Combined Oxidative Phosphorylation Deficiency 54	Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesity, Secondary microcephaly, Peri...	OMIM:619737
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly	OMIM:604273
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplastic anterio...	ORPHA:171680
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Delirium, Co...	ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	OMIM:603553
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia, Cerebral atrophy	OMIM:607250
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Progressive neurologic deterioration, Microcephaly, ...	OMIM:252650
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu...	ORPHA:435660
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Obesity, Attention deficit hyperactivity disorder, Hypoplasia of the corpus...	ORPHA:444002
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Extension of hair growth on temples t...	ORPHA:79273
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic c...	ORPHA:2524
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Hypoplasia of the corpus callosum, Obesity, Cerebral atrophy, Microcephaly	OMIM:616756
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity, Microcephaly	OMIM:300471
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia, Global brain atrophy	ORPHA:94124
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Immunodeficiency 104	Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia	OMIM:608971
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Osteopenia, Extramedullary hematopoiesis, Diabetes...	ORPHA:231222
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Obesity, Hypoplasia of the corpus callosum, Men...	OMIM:604360
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Gaba-Transaminase Deficiency	Lethargy, Agenesis of corpus callosum, Cerebellar hypoplasia, Tall stature	OMIM:613163
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi...	OMIM:614736
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Obesity, Macrocephaly	OMIM:300209
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Thrombocytosis, Small for gestational age, Increased mean platelet volu...	OMIM:222470
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Obesity	ORPHA:85274
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impai...	ORPHA:276183
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Alg8-Cdg	Hyponatremia, Small for gestational age, Abnormality of subcutaneous fat tissue, Anemia, Camptoda...	ORPHA:79325
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece...	ORPHA:276
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism, Elevated circulating prist...	OMIM:613724
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin...	ORPHA:79085
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop...	OMIM:618986
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Obesity, Attention deficit hyperactivity disorder, Macrocephaly	OMIM:613670
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly,...	OMIM:300957
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Failure to thrive in infancy, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia	OMIM:611209
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o...	ORPHA:250972
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Foxg1 Syndrome	Pachygyria, Inability to walk, Bruxism, Choreoathetosis, Agenesis of corpus callosum, Progressive...	ORPHA:561854
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Adiposis Dolorosa	Depression, Obesity, Painful subcutaneous lipomas	OMIM:103200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Midline brainstem cleft, Fusion o...	OMIM:617542
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone...	ORPHA:848
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia, Diabetes insipidus	OMIM:304800
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcephaly, Periventricular cysts, Hypoalbuminemia, Hypopituitarism, Hypo...	OMIM:619013
Takenouchi-Kosaki Syndrome	Inguinal hernia, Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Synophrys...	OMIM:616737
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia, Sparse hair, Failure to thrive, Reduced circulating growth hormon...	OMIM:615508
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia	OMIM:125800
Smith-Magenis Syndrome	Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Progressive neurologic deterioration, Corpus callosum atrophy, Abnormal cerebellum morpho...	OMIM:169500
Bardet-Biedl Syndrome 22	Microcephaly, Large for gestational age, Obesity, Hypogonadism, Macrocephaly	OMIM:617119
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip...	ORPHA:435651
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Microcephaly, Precocious puberty, Obesity, Ap...	ORPHA:819
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ...	ORPHA:100924
Oculoskeletodental Syndrome	Hypercalcemia, Dysplastic corpus callosum, Hypocalcemia, Abnormal thalamus morphology, Enamel hyp...	ORPHA:557003
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Shyness, Overweight, Microcephaly, Difficulty walking, Hypopla...	ORPHA:280763
Mehmo Syndrome	Diabetes mellitus, Obesity, Microcephaly	ORPHA:85282
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Abnormal substantia nigra morphology, Ataxia, Overweight, Inability to walk...	ORPHA:2822
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti...	OMIM:615238
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Congenital Muscular Dystrophy With Cerebellar Involvement	Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Olivopontocerebellar ...	ORPHA:370959
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification	ORPHA:75234
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A...	ORPHA:443811
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia	ORPHA:75563
Spermatogenic Failure 17	Male infertility	OMIM:617214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Failure to thrive, Reduced natural killer cell count	OMIM:242860
Neuroferritinopathy	Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Subcortical dementia, Abno...	ORPHA:157846
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
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	OMIM:615926
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased...	OMIM:615513
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Bardet-Biedl Syndrome 16	Hypogonadism, Obesity, Cognitive impairment	OMIM:615993
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Perlman Syndrome	Inguinal hernia, Femoral hernia, Hyperinsulinemia, Macrocephaly, Tall stature	ORPHA:2849
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Microcephaly, Obesity, Multifocal cerebral white matter abnormalities, Congenital hypothyroidism,...	ORPHA:352530
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni...	OMIM:619489
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi...	ORPHA:95409
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Reduced cerebral white matter volume, Simplified g...	OMIM:615095
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Microcephaly, Overweight, Depression, Gait disturbance, Gliosis, Abnor...	ORPHA:457240
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Pancytopenia, B lymphocytopenia, Nail dystrophy, Reduced natural killer cell c...	OMIM:620133
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Small for gestational age, Cerebral atrophy	OMIM:619057
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume, Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb	OMIM:618646
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno...	ORPHA:101070
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 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa...	ORPHA:412
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Cerebellar vermis atrophy...	ORPHA:163681
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Ravine Syndrome	Ataxia, Anorexia, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Ab...	ORPHA:99852
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Bangstad Syndrome	Microcephaly, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating corti...	ORPHA:1227
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormal brainstem MRI signal intensity, Inability to walk, Pachygyria, Astrocytosis, Pontocerebe...	ORPHA:258
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Sparse axillary hair, Reduced c...	ORPHA:91355
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Fair hair, Albinism, Splenomegaly, Impaired ADP-induced platelet ...	OMIM:608233
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O...	ORPHA:3077
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Alopecia, Lipodystrophy, Insulin-resi...	OMIM:248370
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Hemochromatosis, Type 4	Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev...	OMIM:606069
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Failure to thrive, Anemia	ORPHA:97362
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Snakebite Envenomation	Hyponatremia, Hypopituitarism, Thrombocytopenia	ORPHA:449285
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Depression, Dementia, Abnormal emotion, ...	ORPHA:444490
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Spinocerebellar Ataxia With Epilepsy	Cerebral infarct, Progressive neurologic deterioration, Depression, Focal T2 hyperintense thalami...	ORPHA:254881
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipodystro...	OMIM:615381
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Simplified gyral pa...	OMIM:613153
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
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
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
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Microcephaly, Hypoalbuminemia, Adrenal insufficiency, Hypogon...	OMIM:617575
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Temple Syndrome	Relative macrocephaly, Small for gestational age, Decreased response to growth hormone stimulatio...	ORPHA:254516
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:95512
Microtriplication 11Q24.1	Hyperlipidemia, Obesity, Microcephaly	ORPHA:289522
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:95513
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Memory impairment, Basal ganglia calcification, Mental deterioration, Thalamic calcification	OMIM:618317
Shigellosis	Hyponatremia, Hypoglycemia, Abscess, Failure to thrive in infancy, Leukocytosis, Abnormal blood i...	ORPHA:810
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De...	OMIM:203800
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hernia of the abdominal wall, Obesity	ORPHA:3055
Nephrogenic Diabetes Insipidus	Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia	ORPHA:223
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme...	OMIM:208920
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder, Macrocephaly	OMIM:618725
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Obesity, Microcephaly	OMIM:301900
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Methanol Poisoning	Bilateral basal ganglia lesions, Confusion, Abnormal putamen morphology, Abnormal globus pallidus...	ORPHA:31825
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism...	ORPHA:90674
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity, Depression	ORPHA:276630
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Mental deterioration, Basal ganglia calcification, Thalamic calcification	OMIM:618824
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Hyperprolinemia, Focal T2 hyperintense thalamic lesion, Hyperalaninemia...	OMIM:619046
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Progressive neurologic deterioration, Memory impairment, Ischemic stroke, Cognit...	ORPHA:90065
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Cessation of head growth, Inappropriate laughter, Obesity	ORPHA:411515
Colchicine Poisoning	Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal...	ORPHA:31824
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Estrogen Resistance Syndrome	Osteopenia, Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of s...	ORPHA:785
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Diabetes mellitus, Lipoatroph...	ORPHA:79083
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Microcephaly, Open operculum, Hypomagnesemia	OMIM:616418
Progeria-Short Stature-Pigmented Nevi Syndrome	Multiple joint contractures, Small for gestational age, Hypergonadotropic hypogonadism, Lack of f...	ORPHA:2959
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Congenital hypothyroidism	ORPHA:88643
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici...	OMIM:301074
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weigh...	OMIM:614833
Pseudohypoparathyroidism, Type Ic	Basal ganglia calcification, Choroid plexus calcification, Elevated circulating thyroid-stimulati...	OMIM:612462
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Low posterior hairline, Abnormal bone...	ORPHA:79324
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ...	ORPHA:90791
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipodystro...	ORPHA:2348
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Attention deficit hyperactivity disorder	OMIM:620065
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Ataxia, Decreased fertility in females, Crypto...	ORPHA:79239
Whipple Disease	Hyponatremia, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism, Anemia	ORPHA:3452
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi...	ORPHA:199296
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Confusion, Increased circulating free fatty aci...	ORPHA:71212
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Depression, Abnormal cerebral white matter morphology, Dementia, Focal T2 hyper...	ORPHA:79264
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Hypopigmentation of hair, Pancytopenia, Hypertriglyc...	ORPHA:167
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati...	OMIM:613327
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level...	OMIM:610600
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
47,Xyy Syndrome	Male infertility, Hyperactivity, Macroorchidism, Impulsivity, Cryptorchidism, Abnormal brainstem ...	ORPHA:8
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
14Q11.2 Microduplication Syndrome	Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:261229
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive, Hypogonadism	ORPHA:261483
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Porphyria Variegata	Hyponatremia, Scarring, Abnormal circulating porphyrin concentration, Inappropriate antidiuretic ...	ORPHA:79473
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
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Seckel Syndrome 10	Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Mic...	OMIM:617253
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentration, Elevat...	OMIM:274300
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Dysmetria, Irritability, Truncal ataxia, Lethargy, Failure to thrive, Agenesis of corpus ...	OMIM:250620
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of ...	ORPHA:255138
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:269700
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal th...	ORPHA:444013
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Small for gestational age, Hypoglycemia, Microcephaly, Insulin resistance, ...	ORPHA:73272
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Legionnaires Disease	Hyponatremia, Splenomegaly, Lymphopenia, Cellulitis	ORPHA:549
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Summitt Syndrome	Obesity	OMIM:272350
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity	ORPHA:69663
Trisomy 5P	Obesity, Macrocephaly	ORPHA:1742
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Depression,...	OMIM:615830
Intellectual Developmental Disorder, Autosomal Recessive 13	Mild microcephaly, Truncal obesity, Abnormal cerebral white matter morphology, Secondary microcep...	OMIM:613192
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Abnormali...	ORPHA:487796
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C...	ORPHA:169154
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, I...	ORPHA:79240
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i...	OMIM:246200
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecti...	ORPHA:98755
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par...	OMIM:610489
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus, Cerebral atrophy, Dementia, Cognitive impairment, Hyperintensity of cere...	ORPHA:1947
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy...	ORPHA:2088
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Confusion, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline, Ce...	OMIM:603471
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Lipoma, Obesity, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:480907
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Abnormal T cell subset distribution, Low posterior hairline, B lymphocytopenia, Decre...	ORPHA:221139
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal...	OMIM:618160
Spastic Paraplegia 47, Autosomal Recessive	Microcephaly, Overweight, Shyness, Flexion contracture, Hypoplasia of the corpus callosum, Abnorm...	OMIM:614066
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia, Failu...	ORPHA:2089
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:264350
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia...	OMIM:616900
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral white matter atrophy, Microcephaly, Puberty and gonadal disorders, Obesity, Cerebral atr...	ORPHA:464282
Combined Oxidative Phosphorylation Defect Type 7	Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Abnormal cerebra...	ORPHA:254930
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, A...	ORPHA:370022
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Diabetes insipidus, Weight loss	ORPHA:178029
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	ORPHA:280365
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypoglycemia, Hyperlipidemia, Irritability, Delayed puberty, Failure to thrive	ORPHA:369
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Abnormal brainstem morphology, Dysmetria, Depression, Gait ataxia, Bradykinesia, Impotenc...	ORPHA:93256
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:264580
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Hypoglycemia, Multip...	ORPHA:506
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent...	OMIM:601457
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Increased L...	OMIM:278000
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dysplastic...	ORPHA:357058
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556037
Baralle-Macken Syndrome	Obesity, Global brain atrophy, Microcephaly	OMIM:619255
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Hypertriglyc...	OMIM:608594
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Diabetes insipidus, Absent septum pellucidum, Optic nerve hypoplasia, Mate...	ORPHA:3157
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Pseudohypoparathyroidism, Type Ia	Basal ganglia calcification, Choroid plexus calcification, Obesity, Pseudohypoparathyroidism, Hyp...	OMIM:103580
Subaortic Stenosis-Short Stature Syndrome	Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, Obesity	ORPHA:3191
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Premature graying of hair, Anemia, Nail dystrophy, Type I diabetes mellitus, Lymphope...	OMIM:620365
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity, Microcephaly	ORPHA:85280
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556030
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia	ORPHA:277
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity, Hypoplasia of the corpus callosum	ORPHA:521390
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ...	OMIM:219080
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	ORPHA:158048
Leptin Deficiency Or Dysfunction	Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Inability to walk, Hypoplasia of the brainstem, Cereb...	OMIM:613155
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Septopreoptic Holoprosencephaly	Short attention span, Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Micro...	ORPHA:280195
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Short attention span, Microcephaly, Obesity, Macrocephaly, Tall stature	OMIM:618089
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi...	ORPHA:488627
Japanese Encephalitis	Hyponatremia, Abnormal substantia nigra morphology, Abnormal midbrain morphology, Elbow flexion c...	ORPHA:79139
X-Linked Acrogigantism	Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,...	ORPHA:300373
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, ...	OMIM:203700
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Aggressive behavior, Large for gestational age, Dysplastic corpus callosum, Bilateral cryptorchid...	ORPHA:544488
Intellectual Developmental Disorder, Autosomal Dominant 39	Thin corpus callosum, Obesity, Cerebral atrophy	OMIM:616521
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Cachexia, Hype...	ORPHA:275761
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ...	ORPHA:79086
Nephronophthisis 15	Cerebellar vermis hypoplasia, Obesity	OMIM:614845
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Di...	ORPHA:48818
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Failure to thrive,...	OMIM:300400
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Lateral vent...	OMIM:617751
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity, Macrocephaly	OMIM:606772
Familial Multiple Lipomatosis	Cerebral calcification, Lipodystrophy, Increased adipose tissue, Hyperlipidemia, Insulin resistan...	ORPHA:199276
Beta-Thalassemia Major	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231214
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Relative macrocephaly, Cortical dysplasia, Simplified gyral pattern, Abnormal cerebral white matt...	OMIM:300354
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Decreased circu...	OMIM:203400
Summitt Syndrome	Camptodactyly of finger, Obesity, Tall stature, Macrocephaly	ORPHA:3210
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Glucose...	OMIM:219090
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Bardet-Biedl Syndrome 4	Hypogonadism, Obesity	OMIM:615982
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia, Cognitive impairment	ORPHA:364
Clark-Baraitser Syndrome	Obesity, Microcephaly	OMIM:617752
Chylomicron Retention Disease	Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
New-Onset Refractory Status Epilepticus	Abnormal basal ganglia MRI signal intensity, Confusion, Abnormal thalamic MRI signal intensity, C...	ORPHA:363558
Monosomy 13Q34	Hypercalcemia, Microcephaly, Insulin resistance, Obesity, Agenesis of corpus callosum	ORPHA:96168
Wilson-Turner Syndrome	Truncal obesity, Hypogonadotropic hypogonadism, Emotional lability	ORPHA:3459
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Microcephaly, Hypoplasia of the...	OMIM:619418
Adult Krabbe Disease	Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Pr...	ORPHA:206448
Joubert Syndrome 32	Ataxia, Large for gestational age, Abnormal cerebellum morphology, Molar tooth sign on MRI, Polym...	OMIM:617757
Laurence-Moon Syndrome	Type II diabetes mellitus, Obesity	ORPHA:2377
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Bardet-Biedl Syndrome 19	Hypogonadism, Obesity, Hypoplasia of the corpus callosum	OMIM:615996
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:544482
19P13.12 Microdeletion Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Precocious puberty, Hyperlipidemia, Ob...	ORPHA:254346
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem morpholo...	ORPHA:88619
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
48,Xxyy Syndrome	Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Depr...	ORPHA:10
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Hyperproteinemia, Increased circula...	ORPHA:90041
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Femoral hernia, Absent septum pellucidum, Microcephaly, Obesity, Depression, Irr...	ORPHA:96147
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity, Macrocephaly	ORPHA:2429
Mpi-Cdg	Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Hypothyroidism, Congenital, Nongoitrous, 6	Relative macrocephaly, Increased body mass index, Omphalocele, Increased T3/T4 ratio, Increased b...	OMIM:614450
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Thick h...	ORPHA:769
Immunodeficiency 61	Obesity, Attention deficit hyperactivity disorder	OMIM:300310
Neuhauser Syndrome	Microcephaly, Primary hypothyroidism, Macrocephaly, Hypercholesterolemia, Cerebral cortical atrophy	OMIM:249310
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El...	ORPHA:289548
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Microcephaly, Abnormality of the endocrine system, Thick corpus callosum, Obesity, Pseudohypopara...	ORPHA:464288
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute...	ORPHA:168558
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Ataxia, Microcephaly, Obesity, Choreoathetosis, Bradykinesia, Male hypogonadism, Sh...	OMIM:300055
Chung-Jansen Syndrome	Obesity, Attention deficit hyperactivity disorder	OMIM:617991
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes	OMIM:300946
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia,...	OMIM:277460
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Oligozoospermia, Attention deficit hyperactivity disorder, Macroorchidism, Tall...	ORPHA:3000
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi...	OMIM:617237
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Relative macrocephaly, Precocious puberty, Obesity	ORPHA:254525
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Optic nerve hypoplasia, Microcephaly, Hypoplasia of t...	OMIM:620155
Rafiq Syndrome	Flexion contracture, Obesity, Truncal obesity, Cerebellar hypoplasia, Macrocephaly	OMIM:614202
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem...	ORPHA:90790
Wagr Syndrome	Obesity, Microcephaly	ORPHA:893
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal...	ORPHA:79124
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Impulsivity, Cryptorchidism, Increased body weight, Gait disturbance, Attention deficit hyperacti...	ORPHA:589905
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Cockayne Syndrome Type 3	Cerebral white matter atrophy, Progressive neurologic deterioration, Basal ganglia calcification,...	ORPHA:90324
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality,...	OMIM:607485
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age, Cryptorchidism	OMIM:620135
Chromosome 3Q29 Duplication Syndrome	Macrocephaly, Obesity, Microcephaly	OMIM:611936
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal basal ganglia MRI signal intensity, Microcephaly, Abnormal globus pallidus morphology, A...	ORPHA:309854
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid...	ORPHA:79445
Ataxia-Oculomotor Apraxia Type 4	Short attention span, Obesity, Cognitive impairment	ORPHA:459033
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Confusion, Abnormal brainstem MRI signal intensity...	ORPHA:83597
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Microcephaly	OMIM:618348
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia, Steatorrhea	OMIM:602579
Hepatic Veno-Occlusive Disease	Increased body weight, Increased total bilirubin	ORPHA:890
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Obesity, Macrocephaly	OMIM:614651
Morm Syndrome	Truncal obesity	ORPHA:75858
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Obesity, Overgrowth, Macrocephaly, Agenesis of corpus ca...	OMIM:620250
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Macrocephaly, Hypothyroidism, Microcephaly	ORPHA:2479
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Neoplasm of the ...	ORPHA:54595
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance, Hypop...	ORPHA:93952
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Obesity, Cognitive impairment, Pseudohypoparathyroidism	OMIM:612463
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Hydrocephalus-Obesity-Hypogonadism Syndrome	Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity	ORPHA:2183
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Atelis Syndrome 2	Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi...	OMIM:620185
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Dworschak-Punetha Neurodevelopmental Syndrome	Elevated circulating creatine kinase concentration, Microcephaly, Dysplastic corpus callosum, Col...	OMIM:619955
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development	OMIM:610628
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Cessation of head growth, Obesity, Mild microcephaly, Secondary microcephal...	ORPHA:98794
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Lateral ventricle dilatation,...	OMIM:617296
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity, Macrocephaly	ORPHA:397973
Idiopathic Intracranial Hypertension	Abnormal emotion, Obesity, Depression	ORPHA:238624
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive, Highly arched eyebrow	OMIM:620157
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap...	ORPHA:94065
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad...	OMIM:300869
Joubert Syndrome 37	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Obesity, Hypoplasia of the corpus callosum	OMIM:619185
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
48,Xxxy Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Obesity, Irritability, Hypogonadism, Type II ...	ORPHA:96263
Pseudohypoparathyroidism Type 1C	Calcinosis, Cerebral calcification, Hypergonadotropic hypogonadism, Decreased response to growth ...	ORPHA:79444
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Leukoencephalopathy, Hypoplasia of the brainstem, C...	OMIM:615181
3P25.3 Microdeletion Syndrome	Cerebral white matter atrophy, Abnormal thalamus morphology, Attention deficit hyperactivity diso...	ORPHA:435638
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Glucose intolerance, Cerebellar vermis hypoplasia, Impaired glucose tolerance, Obesity	OMIM:615630
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Abnormal septum pellucidum morphology, Umbilical hernia, Obesity, Cerebral atrophy	ORPHA:171839
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity	ORPHA:2233
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Parkinson Disease 1, Autosomal Dominant	Depression, Bradykinesia, Dementia, Gait disturbance, Shuffling gait, Gliosis, Dysphagia, Mental ...	OMIM:168601
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Splenome...	OMIM:219800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Hartsfield Syndrome	Craniosynostosis, Hypernatremia, Gonadotropin deficiency, Diabetes insipidus	OMIM:615465
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi...	ORPHA:79474
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Flexion contracture, Failure to thrive, HbH hemoglobin, Aplasia/Hypoplasia of ...	ORPHA:98791
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Obesity	ORPHA:177910
Angelman Syndrome Due To A Point Mutation	Cessation of head growth, Obesity, Mild microcephaly, Secondary microcephaly, Inappropriate laughter	ORPHA:411511
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly, Elevated circulating C-rea...	OMIM:619423
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den...	OMIM:617052
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper...	OMIM:618363
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
6Q16 Microdeletion Syndrome	Obesity, Macrocephaly	ORPHA:171829
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:232400
Bachmann-Bupp Syndrome	Macrocephaly at birth, Cerebral calcification, Hypoglycemia, Large for gestational age, Focal pol...	OMIM:619075
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti...	ORPHA:99832
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity, Macrocephaly	OMIM:618821
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Premature adrenarche, Hyponatremia, ...	ORPHA:90794
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Atkin-Flaitz Syndrome	Obesity, Macrocephaly	ORPHA:1193
Tay-Sachs Disease	Short attention span, Hypointensity of cerebral white matter on MRI, Increased serum beta-hexosam...	ORPHA:845
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Radio-Tartaglia Syndrome	Microcephaly, Precocious puberty, Obesity, Attention deficit hyperactivity disorder, Agenesis of ...	OMIM:619312
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Distal 16P11.2 Microdeletion Syndrome	Hyperuricemia, Attention deficit hyperactivity disorder, Obesity	ORPHA:261222
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Short attention span, Obesity, Macrocephaly	OMIM:619056
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity	OMIM:615985
Liver Disease, Severe Congenital	Dry hair, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Hyponatre...	OMIM:619991
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Lipodystrophy, Flexion contracture, Panniculitis, Failure to thrive	OMIM:617591
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Cerebellar vermis hypoplasia, Flexion contracture, Hypoplasia of the brainstem, Secondary microce...	OMIM:619306
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Clark-Baraitser syndrome	Obesity, Tall stature, Macrocephaly	OMIM:300602
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Microcephaly, Increased ci...	OMIM:270450
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t...	OMIM:615300
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Bardet-Biedl Syndrome 9	Truncal obesity, Hyperglycemia, Obesity	OMIM:615986
Holoprosencephaly	Hyponatremia, Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Highly ...	ORPHA:2162
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Hyperparathyroidism, Inguinal hernia, Hypoammonemia, Abnormal de...	ORPHA:534
Prader-Willi Syndrome	Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone...	OMIM:176270
Wilson Disease	Aggressive behavior, Abnormality of the menstrual cycle, Hypersexuality, Increased body weight, D...	ORPHA:905
Cornelia De Lange Syndrome 5	Truncal obesity, Hypogonadism, Microcephaly	OMIM:300882
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula...	OMIM:214700
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity, Microcephaly	OMIM:610543
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Neutral Lipid Storage Myopathy	Diabetes mellitus, Hypertriglyceridemia, Obesity, Pineal cyst, Abnormal circulating creatine kina...	ORPHA:98908
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration	ORPHA:98907
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Obesity, Congenital hypothyroidism	OMIM:614613
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane...	OMIM:260400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis	OMIM:618398
Luscan-Lumish Syndrome	Aggressive behavior, Shyness, Irregular menstruation, Obesity, Chiari malformation, Overgrowth, P...	OMIM:616831
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Microcephaly, Insulin resistance, Simplified gyral pattern, T...	OMIM:616541
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Small for gestational age, Decreased response to growth hormone stimulation te...	ORPHA:98754
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Cognitive impairment, P...	ORPHA:309246
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos...	OMIM:300539
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Thyroiditis, Hypoglycemic seizures, Xanthelas...	ORPHA:79259
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Microcephaly, Truncal obesity, Attention deficit hyperactivity d...	ORPHA:284180
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Bardet-Biedl Syndrome 21	Overweight, Obesity	OMIM:617406
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal thalamus morphology, Attention deficit hyperactivity disorder	ORPHA:404440
White-Sutton Syndrome	Optic nerve hypoplasia, Congenital diaphragmatic hernia, Microcephaly, Obesity, Cerebral atrophy,...	OMIM:616364
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Cranial hyperostosis, Imbalan...	ORPHA:330015
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Hypokalemia, Hypocalcemia	OMIM:617913
Leprechaunism	Reduced subcutaneous adipose tissue, Microcephaly, Insulin resistance, Hyperinsulinemia, Central ...	ORPHA:508
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Microcephaly, Inability to walk, Unsteady gait, Perisylvian polymicro...	OMIM:618443
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Small for gestational age, Decreased response to growth hormone stimulation te...	ORPHA:98793
Silver-Russell Syndrome	Relative macrocephaly, Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resist...	ORPHA:813
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Insulin resistance, Obesity, T...	ORPHA:91
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Hypogonadism, Elevated hemoglobin A1c	OMIM:277700
Ataxia-Telangiectasia	Failure to thrive, Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-fetoprotein...	OMIM:208900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Small for gestational age, Decreased response to growth hormone stimulation te...	ORPHA:177904
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Male hypogonadism, Obesity	OMIM:619471
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal cer...	ORPHA:540
Amoebiasis Due To Free-Living Amoebae	Restlessness, Abnormal medulla oblongata morphology, Ataxia, Confusion, Abnormal midbrain morphol...	ORPHA:68
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Microcephaly, Abnormal pituitary gland morphology, Abnormal hypotha...	ORPHA:314621
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Small for gestational age, Decreased response to growth hormone stimulation te...	ORPHA:177901
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Methemoglobinemia And Ambiguous Genitalia	Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c...	OMIM:250790
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Cerebral calcification, Elevated circulating creatine kinase concen...	ORPHA:157
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,...	OMIM:615418
Pseudohypoparathyroidism Type 1A	Calcinosis, Cerebral calcification, Hypergonadotropic hypogonadism, Decreased response to growth ...	ORPHA:79443
Macrocephaly/Autism Syndrome	Short attention span, Large for gestational age, Obesity, Overgrowth, Biparietal narrowing, Postn...	OMIM:605309
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:618810
Schaaf-Yang Syndrome	Failure to thrive in infancy, Flexion contracture, Obesity, Hypogonadism, Camptodactyly, Arthrogr...	OMIM:615547
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Microcephaly, Overweight, Obesity, Lateral ventricle dilatation, Secondary ...	OMIM:619229
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Griscelli Syndrome Type 1	Hyperlipidemia, Cerebral calcification	ORPHA:79476
H Syndrome	Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Hypogonadism, Hernia, Delayed puberty, Ca...	ORPHA:168569
Congenital-Onset Steinert Myotonic Dystrophy	Bradyphrenia, Short attention span, Obesity, Macrocephaly, Decreased body weight	ORPHA:589821
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Obesity	ORPHA:1035
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Abnormal periventri...	OMIM:615960
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Multiple joint contractures, Camptodactyly of finger, Microcephaly, Aplasia/Hypo...	ORPHA:2570
Intellectual Developmental Disorder, X-Linked 107	Obesity, Attention deficit hyperactivity disorder	OMIM:301013
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Megalencephaly	Truncal obesity, Macrocephaly	ORPHA:2477
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert...	ORPHA:398079
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrin...	ORPHA:391487
Steinert Myotonic Dystrophy	Short attention span, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to gr...	ORPHA:273
Beta-Ketothiolase Deficiency	Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis, Hyperglyc...	ORPHA:134
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level, Adrenal insufficiency, Failure to ...	ORPHA:427
Cushing Disease	Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Paradoxical incr...	ORPHA:96253
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Flexion contracture of finger, Hypertriglyceridemia, Imp...	OMIM:256040
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic cor...	OMIM:617281
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia	OMIM:619769
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl...	OMIM:307030
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia...	OMIM:619179
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity, Global brai...	ORPHA:369837
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi...	ORPHA:411634
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c...	ORPHA:453533
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Obesity, Tall stature, Macrocephaly	OMIM:618430
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Obesity, Macrocephaly	ORPHA:2180
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Camptodactyly of finger	ORPHA:2928
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
Sotos Syndrome	Neonatal hypoglycemia, Partial agenesis of the corpus callosum, Increased body weight, Glucose in...	OMIM:117550
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Cerebral white matter atrophy, Impulsivity, Aggressive behavior, Overweight, C...	ORPHA:500055
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious be...	ORPHA:314679
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Hypogonadism, Obesity, Flexion contracture of toe	ORPHA:3409
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebellar vermis hypoplasia, Cerebral calcificatio...	ORPHA:228308
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Hypercalcemia, Progressive psychomotor deterioration, Obesity,...	ORPHA:251004
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Macrocephaly,...	ORPHA:261197
Cohen Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Microcephaly, T...	OMIM:216550
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Angelman Syndrome	Paroxysmal bursts of laughter, Cerebral cortical atrophy, Obesity, Secondary microcephaly	OMIM:105830
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Diabetes ins...	ORPHA:423479
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi...	ORPHA:177907
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating alpha-fetoprotein concentration, Dysplastic corpus callosum, Leukoencephalop...	OMIM:614924
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:613090
Marbach-Schaaf Neurodevelopmental Syndrome	Obesity, Attention deficit hyperactivity disorder, Microcephaly	OMIM:619680
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Borjeson-Forssman-Lehmann Syndrome	Microcephaly, Truncal obesity, Hypogonadism, Macrocephaly, Camptodactyly of toe	ORPHA:127
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ...	ORPHA:536532
Adiposis Dolorosa	Memory impairment, Hypothyroidism, Obesity, Depression	ORPHA:36397
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Camptodactyly of finger, Cachexia, Microcephaly, Obesity, Hypogonadism, Bipariet...	ORPHA:85293
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Chromosome 2Q37 Deletion Syndrome	Hypothyroidism, Obesity	OMIM:600430
Laurence-Moon Syndrome	Obesity	OMIM:245800
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg...	OMIM:609069
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Obesity	ORPHA:363741
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Microcephaly, Self-injurious behavior, Abnormal cerebral white matter ...	ORPHA:261652
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Loss of facia...	ORPHA:3455
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, N...	ORPHA:99867
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Obesity	OMIM:601794
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Microcephaly, Obesity, Attention deficit hyperactivity disorder,...	ORPHA:1001
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity, Progressive macrocephaly, Cerebral cortical atrophy	ORPHA:309155
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal basal ganglia MRI signal intensity, Secondary microcephaly, Abnormal thalamic MRI signal...	ORPHA:485421
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra...	OMIM:201810
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, T lymphocytopenia, Coo...	ORPHA:83471
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Cerebellar hypoplasia, Truncal obesity, Cerebral cortical atrophy, Abnormal corpus callosum morph...	ORPHA:3224
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire...	OMIM:612469
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor	ORPHA:363618
Momo Syndrome	Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Macrocephaly, T...	ORPHA:2563
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit	ORPHA:3041
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Microcephaly, Obesity, Weight loss, Biparietal narrowing, Attent...	ORPHA:251071
Holoprosencephaly 7	Omphalocele, Microcephaly, Partial agenesis of the corpus callosum, Panhypopituitarism, Hypoplasi...	OMIM:610828
Angelman Syndrome	Precocious puberty in females, Cerebral dysmyelination, Microcephaly, Obesity, Inappropriate laug...	ORPHA:72
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Memory impairment, Abnormal thalamic MRI signal intensity, Cognitive impairment, Depression	ORPHA:70595
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, L...	ORPHA:124
Tatton-Brown-Rahman Syndrome	Obesity, Proportionate tall stature, Macrocephaly, Umbilical hernia, Neuroendocrine neoplasm	ORPHA:404443
Rhombencephalosynapsis	Fusion of the left and right thalami, Septo-optic dysplasia, Agenesis of cerebellar vermis, Macro...	ORPHA:59315
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob...	ORPHA:261529
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Cryptorchidism, Increased body weight, Primary amenorrhea, Abdominal obesity, Hypogo...	ORPHA:398069
13Q12.3 Microdeletion Syndrome	Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly	ORPHA:412035
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Kleefstra Syndrome	Microcephaly, Obesity, Hernia, Agenesis of corpus callosum, Cerebral cortical atrophy	ORPHA:261494
Hereditary Cryohydrocytosis With Reduced Stomatin	Intracerebral periventricular calcifications, Microcephaly, Conjugated hyperbilirubinemia, Decrea...	ORPHA:168577
Shox-Related Short Stature	Obesity	ORPHA:314795
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Progressive neurologic deterioration, Microcephaly, Obesity, Abnormal cerebral w...	OMIM:614947
Carpenter Syndrome 1	Omphalocele, Precocious puberty, Obesity, Cerebral atrophy, Aplasia/Hypoplasia of the corpus call...	OMIM:201000
White-Sutton Syndrome	Ventral hernia, Inguinal hernia, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the...	ORPHA:468678
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Bardet-Biedl Syndrome 17	Hypogonadism, Obesity, Cognitive impairment	OMIM:615994
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly,...	OMIM:618820
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Hypointensity of cerebral white matter on MRI, Increased body weight, Macrocephaly	OMIM:300860
Immunodeficiency 47	Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration	OMIM:300972
Senior-Loken Syndrome 9	Hypogonadism, Obesity	OMIM:616629
Carpenter Syndrome	Umbilical hernia, Obesity	ORPHA:65759
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Obesity	OMIM:620191
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end...	ORPHA:99889
Congenital Myopathy 9A	Obesity	OMIM:618822
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Pde4D Haploinsufficiency Syndrome	Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity	ORPHA:439822
3Q29 Microduplication Syndrome	Microcephaly, Obesity, Biparietal narrowing, Macrocephaly, Camptodactyly of toe	ORPHA:251038
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Overweight, Head-banging, Chiari type I malformation, Self-injurious behavi...	OMIM:619575
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Coronal craniosynostosis, Nail dystrophy,...	ORPHA:2968
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Man1B1-Cdg	Truncal obesity, Cerebellar hypoplasia	ORPHA:397941
Hydranencephaly	Dysgenesis of the thalamus, Optic nerve hypoplasia, Thalamic edema, Primary microcephaly, Cerebra...	ORPHA:2177
Kapur-Toriello Syndrome	Pachygyria, Dysplastic corpus callosum, Failure to thrive, Polymicrogyria	ORPHA:2328
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Obesity, Truncal obesity, ...	OMIM:209900
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy...	OMIM:264090
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Infant Botulism	Hyponatremia	ORPHA:178478
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Glycosuria, Hypophospha...	OMIM:616026
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick...	ORPHA:2126
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Momo Syndrome	Overgrowth, Obesity, Macrocephaly	OMIM:157980
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensi...	ORPHA:89938
Down Syndrome	Type II diabetes mellitus, Umbilical hernia, Hypothyroidism, Obesity	ORPHA:870
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Elbow flexion contracture, Obesity, Microcephaly	OMIM:618493
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Cerebral calcification, Abnormal basal ganglia morphology, Hyperbilirubinemia, T...	ORPHA:464321
Joubert Syndrome 8	Molar tooth sign on MRI, Obesity	OMIM:612291
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Disproportionate tall stature, Attention deficit hyperactivity disorder, Abdominal obesity, Campt...	OMIM:301039
Müllerian Aplasia And Hyperandrogenism	Obesity, Increased serum testosterone level	ORPHA:247768
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Microcephaly, Partial absence of cerebellar vermis, Hypoplasia of the brain...	OMIM:613150
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Absent septum pellucidum, Large for gestational age, Microcephaly, Birth length ...	OMIM:300868
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Premature ovarian insufficiency, Endometriosis	ORPHA:363444
Kleefstra Syndrome 1	Obesity, Microcephaly	OMIM:610253
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl...	ORPHA:77293
Familial Dysautonomia	Hyponatremia, Osteolysis	ORPHA:1764
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ataxia, Aggressive behavior, Shyness, Dysplastic corpus callosum, Bilateral cryptorchidism, Crypt...	ORPHA:466791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Agyria, Type II lissencephaly, Microcephaly, Cryptorchidism, Hypoplasia of the brainstem, Cerebel...	OMIM:236670
6Q Terminal Deletion Syndrome	Failure to thrive, Obesity, Macrocephaly, Abnormal cerebral white matter morphology, Colpocephaly...	ORPHA:75857
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Diabetes mellitus, Simplified gyral pattern, Obesity, Hypogonadism, Cerebellar hypoplasia, Hypopl...	OMIM:614231
Peripartum Cardiomyopathy	Abnormality of thyroid physiology, Diabetes mellitus, Obesity	ORPHA:563
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:881
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Papillary thyroid carcinoma	OMIM:118450
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Neutropenia, Lymphopenia...	OMIM:607944
Achondroplasia	Obesity, Macrocephaly	ORPHA:15
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion contracture, Generalized lipodystrophy, Gl...	OMIM:619127
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:602522
Cholestasis-Lymphedema Syndrome	Multiple lipomas, Hyperlipidemia	ORPHA:1414
Bardet-Biedl Syndrome	Hypoplasia of the ovary, Hypogonadism, Obesity	ORPHA:110
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Impulsivity, Aggressive behavior, Dysplastic corpus callosum, Cryptorchidism, Thick corpu...	OMIM:300967
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Microcephaly, Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder, Hypo...	ORPHA:2637
White-Kernohan Syndrome	Dysplastic corpus callosum, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder	OMIM:619426
Distal Deletion 12Q	Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Microcepha...	ORPHA:96149
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Xylt1-Cdg	Relative macrocephaly, Truncal obesity, Microcephaly	ORPHA:370930
Cohen Syndrome	Delayed puberty, Failure to thrive in infancy, Obesity, Microcephaly	ORPHA:193
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D...	ORPHA:478
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Obesity	OMIM:194072
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Obesity, Pineal cyst, Truncal obesity, Lat...	OMIM:615873
Vici Syndrome	Hypopigmentation of hair, Failure to thrive, Elevated circulating creatine kinase concentration, ...	OMIM:242840
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Microcephaly	ORPHA:319675
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Tenorio Syndrome	Hypoglycemia, Emotional lability, Cerebral cortical atrophy, Macrocephaly, Cavum septum pellucidu...	OMIM:616260
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:610505
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Hypoglycemia, Precocious puberty, Obesity, Macrocephaly, Umbilical hernia	OMIM:301066
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microcephaly, Precocious puberty, Truncal obesity, Type II diabetes mellitus, Enamel hypoplasia	OMIM:210720
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro...	OMIM:619573
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Short attention span, Microcephaly, Overweight, Obesity, Macrocephaly, Depression, Irritability, ...	OMIM:619475
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulat...	OMIM:619534
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Head-banging, Microcephaly	OMIM:618569
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Obesity, Hypoplasia of the corpus callosum, Macrocephaly, Failur...	ORPHA:369950
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Flexion contracture, Abnormal hemoglobin, Anemia	ORPHA:847
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty	ORPHA:90154
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Lenz-Majewski Hyperostotic Dwarfism	Relative macrocephaly, Inguinal hernia, Anterior pituitary hypoplasia, Microcephaly, Dysplastic c...	OMIM:151050
Diamond-Blackfan Anemia 21	Obesity, Microcephaly	OMIM:620072
Adnp Syndrome	Inguinal hernia, Microcephaly, Cerebral atrophy, Truncal obesity, Hypoplasia of the corpus callos...	ORPHA:404448
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
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Abnormality of thyroid physiology, Hyperlipidemia, Ischemic stroke, Fa...	ORPHA:1830
Acute Intermittent Porphyria	Hyponatremia	ORPHA:79276
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
7Q11.23 Microduplication Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Simplified gyral pattern, Obesity, Cerebellar h...	ORPHA:96121
Desbuquois Dysplasia 2	Relative macrocephaly, Truncal obesity, Microcephaly	OMIM:615777
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Bardet-Biedl Syndrome 12	Hypogonadism, Obesity, Cognitive impairment	OMIM:615989
Chops Syndrome	Obesity, Microcephaly	OMIM:616368
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Large for gestational age, Megalencephaly, Diffuse white matter abnormalities, Thick corpus callo...	ORPHA:457359
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Craniosynostosis, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Elbow flexion ...	ORPHA:508533
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia	OMIM:300755
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Obesity, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618653
1P21.3 Microdeletion Syndrome	Shyness, Obesity, Macrocephaly	ORPHA:293948
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Bloom Syndrome	Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Decreased ...	ORPHA:125
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Type I diabetes mellitus, Precocious puberty, Dentinogenesis imperfecta, Obesity	OMIM:619269
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353281
Witteveen-Kolk Syndrome	Inguinal hernia, Small for gestational age, Decreased response to growth hormone stimulation test...	OMIM:613406
Perlman Syndrome	Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Pancreatic islet-cell h...	OMIM:267000
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated c...	ORPHA:79318
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Microcep...	ORPHA:567
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Microcephaly	ORPHA:2165
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Microcephaly, Pachygyria, Hypothyroidism, Obesity, Leukoencephalopathy, ...	OMIM:607872
Kabuki Syndrome	Congenital diaphragmatic hernia, Microcephaly, Precocious puberty, Obesity, Failure to thrive, Ce...	ORPHA:2322
Beckwith-Wiedemann Syndrome	Omphalocele, Adrenocortical cytomegaly, Inguinal hernia, Hypoglycemia, Neonatal hypoglycemia, Ele...	ORPHA:116
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Limb joint contracture, Microcephaly, Flexion contracture, Neuronal loss in the cerebral cortex, ...	OMIM:301072
Chronic Thromboembolic Pulmonary Hypertension	Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent...	ORPHA:70591
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia, Delayed puberty	OMIM:232200
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age	OMIM:618252
Williams Syndrome	Inguinal hernia, Failure to thrive in infancy, Hypercalcemia, Elevated circulating creatine kinas...	ORPHA:904
Ulnar-Mammary Syndrome	Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty	ORPHA:3138
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Monosomy 22Q13.3	Umbilical hernia, Agenesis of corpus callosum, Obesity, Macrocephaly	ORPHA:48652
Zttk Syndrome	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Hyp...	OMIM:617140
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Flexion contracture	ORPHA:90153
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Truncal obesity, Obesity, Attention deficit hyperactivity disorder	ORPHA:466950
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Intellectual Developmental Disorder, Autosomal Dominant 29	Obesity, Attention deficit hyperactivity disorder	OMIM:616078
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Cognitive impairment, Increased bl...	OMIM:235400
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Obesity, Hyperglycemia, Hypo...	ORPHA:444077
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Microcephaly, Flexion contracture, Abdominal obesity, Hypoplasia of the o...	OMIM:619321
Alström Syndrome	Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula...	ORPHA:64
Digeorge Syndrome	Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ...	OMIM:188400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Pineal cyst,...	ORPHA:529962
1P36 Deletion Syndrome	Camptodactyly of finger, Microcephaly, Hypothyroidism, Obesity, Hypogonadism, Failure to thrive, ...	ORPHA:1606
Carney Complex	Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma, Elevated circ...	ORPHA:1359
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Abnormal cerebral cortex morphology, Dysplastic corpus callosum, Si...	ORPHA:500150
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa...	ORPHA:567983
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity, Confusion	ORPHA:79138
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Abnormal brainstem morphology	ORPHA:2720
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short attention span, Microcephaly, Pseudohypoparathyroidism, Obesity, Failure to thrive	OMIM:617157
Lysinuric Protein Intolerance	Hypolysinemia, Increased circulating ferritin concentration, Hyperammonemia, Truncal obesity, Fai...	OMIM:222700
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Tall stature	ORPHA:99429
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity, Attention deficit hyperactivity disorder	ORPHA:466943
Myhre Syndrome	Small for gestational age, Microcephaly, Obesity, Macrocephaly, Camptodactyly	OMIM:139210
Rubinstein-Taybi Syndrome 1	Short attention span, Small for gestational age, Premature thelarche, Microcephaly, Flexion contr...	OMIM:180849
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Glycogen Storage Disease Ib	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty	OMIM:232220
Joubert Syndrome 39	Overweight, Cerebellar vermis hypoplasia, Joint contracture of the 5th finger, Molar tooth sign o...	OMIM:619562
Williams-Beuren Syndrome	Short attention span, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalc...	OMIM:194050
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum...	ORPHA:1772
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Primrose Syndrome	Hip contracture, Cerebral calcification, Diabetes mellitus, Hypergonadotropic hypogonadism, Eleva...	OMIM:259050
Tako-Tsubo Cardiomyopathy	Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration	ORPHA:66529
Norrie Disease	Diabetes mellitus, Cachexia, Microcephaly, Abnormality of the diencephalon, Irritability, Attenti...	ORPHA:649
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration	ORPHA:565612
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Glycogen Storage Disease Ic	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty	OMIM:232240
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Microcephaly, Crypto...	OMIM:227650
Fabry Disease	Hyperlipidemia, Depression, Cognitive impairment, Delayed puberty, Abnormal circulating lipid con...	ORPHA:324
Ulnar-Mammary Syndrome	Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra...	OMIM:181450
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Paroxysmal bursts of laughter, Hypogonadism, Obesity, Microcephaly	OMIM:309580
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Microcephaly, Truncal obesity, Attention deficit hyperactivity d...	ORPHA:199
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Carpenter Syndrome 2	Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture	OMIM:614976
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Truncal obesity, Failure to thrive, Camptodactyly, Microcephaly	OMIM:612474
Hellp Syndrome	Increased body weight	ORPHA:244242
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Pallister-Killian Syndrome	Relative macrocephaly, Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion con...	OMIM:601803

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 Trappc9

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 Trappc9.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Microcephaly with a disproportionate hippocampal reduction, stem cell loss and neuronal lipid droplet symptoms in Trappc9 KO mice.	Neurobiology of disease (February 2024)	Trappc9^{tm1a(EUCOMM)Wtsi}	38331351
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.	PLoS genetics (September 2020)	Trappc9^{tm1a(EUCOMM)Wtsi}	PMC7467316
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Trappc9^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Trappc9^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Trappc9^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Trappc9^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Trappc9^{tm1a(EUCOMM)Wtsi}	PMC5827107

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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
Trappc9^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Trappc9^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Trappc9^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Trappc9 MGI:1923760

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Spleen Immunophenotyping

Anti-nuclear antibody assay

DSS Histology

X-ray

X-ray

X-ray

X-ray

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Trappc9 mutations

Histopathology

IMPC related publications

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