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Gene: Kdm2b MGI:1354737

Gene Summary

Name:

lysine (K)-specific demethylase 2B

Synonyms:

Cxxc2, Fbxl10, Jhdm1b

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased heart left ventricle size	Kdm2b^{em1(IMPC)Marc}	HET	Early adult	1.93×10^-05
decreased circulating phosphate level	Kdm2b^{em1(IMPC)Marc}	HET	Early adult	3.69×10^-05
decreased lymphocyte cell number	Kdm2b^{em1(IMPC)Marc}	HET	Early adult	1.36×10^-05
decreased circulating serum albumin level	Kdm2b^{em1(IMPC)Marc}	HET	Early adult	1.85×10^-06
decreased circulating glucose level	Kdm2b^{em1(IMPC)Marc}	HET	Early adult	8.88×10^-05
increased neutrophil cell number	Kdm2b^{em1(IMPC)Marc}	HET	Early adult	1.81×10^-07

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kdm2b 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 Kdm2b (0 diseases)
Human diseases predicted to be associated with Kdm2b (793 diseases)

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

The table below shows human diseases predicted to be associated to Kdm2b by phenotypic similarity.

Disease	Matching phenotypes	Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Gonadal dysgenesis, Retinal dysplasia, Type II lissencephaly, Cerebellar dysp...	OMIM:615041
Diarrhea 13	Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Joubert Syndrome 15	Ambiguous genitalia, Retinal dystrophy, Exencephaly, Coloboma, Molar tooth sign on MRI, Micropeni...	OMIM:614464
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Retinal coloboma, ...	ORPHA:220493
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Ventriculomegaly, Meningocele, Abnormality of neuronal migra...	ORPHA:2481
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Retinal co...	OMIM:616546
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cerebellar vermis hypoplasia, Abnormal ...	ORPHA:2510
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	ORPHA:363741
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi...	OMIM:241600
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Geographic atrophy, Cer...	OMIM:619260
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Kapur-Toriello Syndrome	Hypoplasia of penis, Pachygyria, Patent ductus arteriosus, Tetralogy of Fallot, Hypoplastic labia...	ORPHA:2328
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Morning glory anomaly...	OMIM:614424
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Umbilical hernia, Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Optic disc pallor, Optic nerve hypoplasia, Hypoplasia of the pons, Simp...	OMIM:300749
Kapur-Toriello Syndrome	Cryptorchidism, Patent ductus arteriosus, Polymicrogyria, Hypoplastic labia majora, Retinal colob...	OMIM:244300
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy...	OMIM:209950
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Spina bifida, Hydrocephalus, Retinal coloboma, Hydranencephaly, Iris coloboma	ORPHA:2839
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Cerebral Cavernous Malformations	Intracranial hemorrhage, Retinal vascular malformation, Cerebral cavernous malformation	OMIM:116860
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ...	ORPHA:507
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Brain Small Vessel Disease 2	Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria, Ventriculomegaly	OMIM:614483
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Dural Sinus Malformation	Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Abnormal ce...	ORPHA:97339
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Retinal ...	ORPHA:370959
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm...	OMIM:610188
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
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Coloboma, Retinal dysplasia, Cerebellar...	ORPHA:324416
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Subcortical band he...	OMIM:615771
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Gray matter heterotopia, Retinal coloboma, Polymicrogyria, Ventricu...	OMIM:619775
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Hypoalbuminemia, Microcytic anemia	OMIM:618805
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Retinitis, Periventricular heterotopia, Ep...	OMIM:615948
Congenital Enterovirus Infection	Abnormal macrophage morphology, Pericardial effusion, Thrombocytopenia, Leukocytosis, Myocarditis...	ORPHA:292
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi...	ORPHA:1667
Joubert Syndrome 16	Encephalocele, Retinal dystrophy, Coloboma, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida	ORPHA:2476
Blue Diaper Syndrome	Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio	ORPHA:94086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypop...	OMIM:613153
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Glycosuria, Hypophosphatemia	OMIM:618913
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In...	OMIM:604250
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Primary Intestinal Lymphangiectasia	Pericardial effusion, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypoca...	ORPHA:90362
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria	OMIM:616026
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Perisylvian polymicrogy...	ORPHA:280195
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Periventricular Nodular Heterotopia 1	Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter het...	OMIM:300049
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu...	ORPHA:2298
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
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
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Retinopathy, Cerebellar hypoplasia	OMIM:617562
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype...	OMIM:620211
Coloboma Of Macula	Macular coloboma	OMIM:120300
Coloboma, Ocular, Autosomal Recessive	Optic disc coloboma, Retinal coloboma, Iris coloboma	OMIM:216820
Coloboma Of Macula And Skeletal Anomalies	Macular coloboma	OMIM:216800
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology	ORPHA:79327
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m...	ORPHA:231160
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Glycosuria, Hypophosphatemia	OMIM:308990
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Colchicine Poisoning	Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo...	ORPHA:31824
Renal Coloboma Syndrome	Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia	ORPHA:1475
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe...	OMIM:220200
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus, Retinal dysplasia, Cerebellar hypoplasia, Type II lissencephaly	OMIM:614830
47,Xyy Syndrome	Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal brainstem ...	ORPHA:8
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Rod-cone dystrophy, Chorioret...	OMIM:612109
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Spina bifida, Chorioretinal degeneration	OMIM:311000
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Hypospadias, Optic nerve hypoplasia, Spina bifida, Coarctation of aorta, Co...	ORPHA:508498
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy...	ORPHA:2088
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Vascular dilatation, Hydrocephalus, Part...	OMIM:220220
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Periventricular heterotopia, Bilateral cryptorchidism, Epispadias, Pate...	ORPHA:434179
Acalvaria	Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:945
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Otodental Syndrome	Lens coloboma, Retinal coloboma, Iris coloboma	ORPHA:2791
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular septal defect, ...	OMIM:608104
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Subdural hemorrhage, Lateral ventricle ...	OMIM:618291
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Retinal atrophy, Re...	OMIM:615960
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa...	ORPHA:31825
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Hypertension, Chorioretinal coloboma, Mola...	OMIM:619111
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Inferior cerebellar vermis hypoplasia, Retinal coloboma	OMIM:618571
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Cons...	ORPHA:67
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Retinal coloboma, Spina bifida occulta, Iris coloboma, Vascular dilatation	OMIM:607323
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Fanconi Renotubular Syndrome 1	Glycosuria, Hypokalemia, Hypophosphatemia	OMIM:134600
Orofaciodigital Syndrome Ix	Retinal coloboma	OMIM:258865
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ...	OMIM:227810
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem...	ORPHA:326
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Joubert Syndrome 30	Cerebellar atrophy, Ventriculomegaly, Retinal dystrophy, Gray matter heterotopia, Molar tooth sig...	OMIM:617622
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Subdu...	ORPHA:79282
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Oligozoospermia, Hypertension, Azoospermia, Infe...	OMIM:615703
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Cystinosis	Type I diabetes mellitus, Hypokalemia, Hypophosphatemia	ORPHA:213
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Intrauterine growth retardation, Aplasia/...	ORPHA:423479
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Retinal dystrophy, Elongated sup...	ORPHA:370022
Mpi-Cdg	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida, Mitral valve prolapse	OMIM:211960
Thoraco-Abdominal Enteric Duplication	Meningocele, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Joubert Syndrome 22	Agenesis of cerebellar vermis, Coloboma, Retinal dysplasia, Molar tooth sign on MRI, Intrauterine...	OMIM:615665
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Pseudo-Torch Syndrome 2	Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Gray matter heterotopia, Lateral ventri...	OMIM:617397
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Patent ductus arteriosus, Hy...	OMIM:617751
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Momo Syndrome	Retinal coloboma	OMIM:157980
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoosp...	ORPHA:280679
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, Intracranial hemorrhage, Pseudopapilledema, Stroke	ORPHA:140989
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Atrial septal defect, Hypertrophi...	OMIM:617303
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia...	OMIM:251880
Fanconi Renotubular Syndrome 2	Glycosuria, Hypophosphatemia	OMIM:613388
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Joubert Syndrome 9	Encephalocele, Retinal dystrophy, Molar tooth sign on MRI, Ventriculomegaly	OMIM:612285
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Propionic Acidemia	Cardiomyopathy, Hypoglycemia, Hyperammonemia	ORPHA:35
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Joubert Syndrome 10	Molar tooth sign on MRI, Rod-cone dystrophy, Cerebellar vermis hypoplasia	OMIM:300804
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Myocarditis, Elevated circulating cr...	ORPHA:36234
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla...	OMIM:610688
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Iris coloboma, Macular coloboma	OMIM:615145
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Anencephaly, Cerebellar hypoplasi...	OMIM:614175
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Abnormal cardiomyocyte morphology, Dilated cardiomyopathy, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot...	OMIM:611134
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h...	ORPHA:331
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Pulmonary artery stenosis, Hydrocele testis, Retinal coloboma, Transposition of the great arterie...	OMIM:280000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Mirage Syndrome	Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Hydrocepha...	OMIM:617053
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Splenomegaly,...	ORPHA:699
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Hyperammonemia	ORPHA:664
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardiac ventricle mo...	ORPHA:85443
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia	ORPHA:469
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Subcortical heterotopia, Remnants of the hya...	OMIM:614643
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	OMIM:602579
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Perisylvi...	ORPHA:171680
Steinfeld Syndrome	Iris coloboma, Retinal coloboma, Holoprosencephaly	OMIM:184705
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial...	ORPHA:449285
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypertrophic cardiomyopathy, Hypoalbuminemia, Hypoglycemia	OMIM:618329
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration,...	ORPHA:2211
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension...	ORPHA:90065
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects	OMIM:615508
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Alg12-Cdg	Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Recurrent hypoglycem...	ORPHA:79324
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Walker-Warburg Syndrome	Retinal detachment, Ventriculomegaly, Hypoplasia of penis, Retinal dystrophy, Chorioretinal dyspl...	ORPHA:899
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Abnormality of neu...	ORPHA:2318
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypog...	OMIM:619055
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum	ORPHA:588
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m...	ORPHA:101030
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage, Dense calcifications in the cerebellar dentate nucleus	ORPHA:542310
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Retinal dystrophy...	OMIM:608091
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Pericardial effusion, Hepatosplenomegaly, Hypoalbuminemia, Left v...	OMIM:619487
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Joubert Syndrome 3	Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Retinal d...	OMIM:608629
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Chia...	OMIM:207950
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ...	ORPHA:3337
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn...	OMIM:618183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Coloboma, Hypoplasia of the brainstem, Retinal dysplasia, Pachygyria, Da...	OMIM:236670
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode,...	OMIM:300845
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometrorrhagia, Prolonged bleeding a...	ORPHA:98879
Humero-Radial Synostosis	Meningocele, Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Joubert Syndrome 7	Encephalocele, Retinal dystrophy, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth s...	OMIM:611560
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
8Q24.3 Microdeletion Syndrome	Branchial cyst, Gastrointestinal hemorrhage, Optic nerve hypoplasia, Patent ductus arteriosus, Hy...	ORPHA:508488
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Dilated cardiomyopathy, Anemia, Decreased serum zinc, Hypoalbuminemia, Decr...	ORPHA:89842
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Pericarditis, Hypoglycemia, Elevated circulating creatine kinase co...	ORPHA:99826
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n...	OMIM:617872
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Gastrointestinal angi...	ORPHA:99147
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Varicose veins, Spina bifida occulta, Retinal coloboma	ORPHA:500095
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi...	ORPHA:411634
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Joubert Syndrome 1	Optic disc pallor, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Cerebellar ve...	OMIM:213300
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Trichohepatoenteric Syndrome 1	Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Optic disc pallor, Cerebellar vermis hypoplasia, Portal h...	OMIM:216360
Non-Functioning Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive r...	ORPHA:94080
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Dent Disease 1	Glycosuria, Hypophosphatemia	OMIM:300009
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Joubert Syndrome 18	Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Intrauterine gro...	OMIM:614815
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Pi...	OMIM:613154
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, H...	OMIM:261540
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Glycogen Storage Disease Ixb	Splenomegaly, Hypoglycemia, Hyperuricemia	OMIM:261750
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Periventricu...	OMIM:619895
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Familial Afibrinogenemia	Abnormal bleeding, Menometrorrhagia, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal...	ORPHA:505248
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Cardiomyopathy, Hyperglycinemia...	OMIM:251000
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoalbuminemia, Hypocholesterolemia, Thrombo...	OMIM:212065
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Charge Syndrome	Overriding aorta, Hypogonadotropic hypogonadism, External genital hypoplasia, Cryptorchidism, Pat...	OMIM:214800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Agyria, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, ...	OMIM:253800
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Thauvin-Robinet-Faivre Syndrome	Coloboma, Retinal coloboma, Varicose veins	OMIM:617107
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Cardiomegaly, Decreased...	ORPHA:14
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Abnormal optic nerve m...	ORPHA:3226
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Fetal Gaucher Disease	Neonatal death, Stillbirth, Intracranial hemorrhage	ORPHA:85212
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen...	OMIM:277900
Infantile Nephropathic Cystinosis	Glycosuria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Chime Syndrome	Tetralogy of Fallot, Retinal coloboma, Transposition of the great arteries	ORPHA:3474
Triploidy	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ...	ORPHA:3376
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Optic atrophy, Lissencephaly, Ventriculomegaly	ORPHA:99742
Vascular Hyalinosis	Hematochezia, Chorioretinal scar, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Tarp Syndrome	Cerebellar vermis hypoplasia, Optic atrophy, Subdural hemorrhage, Cerebellar hypoplasia, Neonatal...	OMIM:311900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Wildervanck Syndrome	Meningocele	ORPHA:3456
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy, Polymicrogyria	OMIM:617757
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Abnormality of retinal pigmentation	ORPHA:1496
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype...	ORPHA:79102
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Retinal dystrophy, Hypos...	ORPHA:397715
1P31P32 Microdeletion Syndrome	Chiari type I malformation, Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon	ORPHA:401986
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:617127
Noonan Syndrome 12	Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia	OMIM:618624
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria	OMIM:229600
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Hypoalbuminemia, A...	OMIM:235510
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Cerebellar vermis hypoplasia, Chiari type I malformation, Webbed penis, Micropenis...	ORPHA:261552
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ...	ORPHA:91348
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Ventriculomegaly	ORPHA:25
Meckel Syndrome, Type 2	Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly	OMIM:603194
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Cerebellar vermis hypoplasia, Chiari type I malformation, Webbed penis, Micropenis...	ORPHA:261537
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ...	OMIM:243910
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Fibrous Dysplasia Of Bone	Diabetes mellitus, Hypercalcemia, Hypophosphatemia	ORPHA:249
Mowat-Wilson Syndrome	Bifid scrotum, Cerebellar vermis hypoplasia, Webbed penis, Micropenis, Iris coloboma, Agenesis of...	ORPHA:2152
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Polymicrogyr...	ORPHA:220497
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Gly...	OMIM:219800
Pettigrew Syndrome	Ventriculomegaly, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Optic atrophy...	OMIM:304340
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Mccune-Albright Syndrome	Pancytopenia, Hypophosphatemia	ORPHA:562
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, Abnormal aortic valve mor...	ORPHA:1120
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Heart murmur, Intracranial ...	ORPHA:163979
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Simplified gyral pattern, Cerebellar hypoplasia, Arrhythmia	OMIM:620208
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida	ORPHA:2345
Aspergillosis	Intracranial hemorrhage, Stroke, Vitritis	ORPHA:1163
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Ventricular septal defect	OMIM:620210
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI	ORPHA:166024
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Hypospadias, Cryptorchidism, Branchial anomaly, Retinal coloboma, ...	OMIM:113620
Joubert Syndrome 28	Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th...	OMIM:609583
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Dilated fourth ventricle, Retrocerebel...	OMIM:614831
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Abnormal cerebellum mor...	ORPHA:2356
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Superficial Siderosis	Cerebellar atrophy, Enlarged sylvian cistern, Abnormal bleeding, Subarachnoid hemorrhage, Interna...	ORPHA:247245
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Combined Oxidative Phosphorylation Deficiency 25	Hypoplasia of the pons, Intraventricular hemorrhage, Cerebellar atrophy, Ventriculomegaly	OMIM:616430
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Rod-cone dystrophy, Macular coloboma	OMIM:248190
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal optic nerve morphology...	ORPHA:3412
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Ventriculomegaly, Meningocele, Chorioretinal coloboma	ORPHA:2031
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618839
Juvenile Polyposis Of Infancy	Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Anemia	ORPHA:79076
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui...	ORPHA:99828
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, An...	OMIM:618835
Hypophosphatasia, Infantile	Intracranial hemorrhage, Stillbirth	OMIM:241500
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171420
Alg3-Cdg	Hypoplasia of the pons, Coarctation of the descending aortic arch, Neural tube defect, Cardiomyop...	ORPHA:79321
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy	OMIM:619562
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia	ORPHA:667
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy	OMIM:213200
Menkes Disease	Intracranial hemorrhage, Intrauterine growth retardation	OMIM:309400
Joubert Syndrome 35	Molar tooth sign on MRI, Rod-cone dystrophy, Elongated superior cerebellar peduncle, Cerebellar v...	OMIM:618161
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Pulmonary e...	ORPHA:394
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:829
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Gapo Syndrome	Dysmenorrhea, Abnormal cerebral vascular morphology, Optic atrophy, Amenorrhea, Oligozoospermia, ...	ORPHA:2067
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Cerebellar vermis atrophy	OMIM:619054
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele, Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Joubert Syndrome 20	Molar tooth sign on MRI, Retinopathy	OMIM:614970
Neu-Laxova Syndrome	Ventriculomegaly, Abnormal cortical gyration, Spina bifida, External genital hypoplasia, Polymicr...	ORPHA:2671
Joubert Syndrome 33	Molar tooth sign on MRI, Cone/cone-rod dystrophy	OMIM:617767
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Cardiomyocyte mitochond...	ORPHA:423
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal...	ORPHA:90795
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Hydrocephalus, Optic nerve compression, Hypogonadotropic hypogonadism	ORPHA:91350
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia	OMIM:613658
Medulloblastoma	Cerebellar hemorrhage, Hydrocephalus, Cerebellar calcifications, Cerebellar cyst	ORPHA:616
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Hypoglycemia, Hyperammonemia	OMIM:616483
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Slc35A2-Cdg	Cerebellar atrophy, Abnormal midbrain morphology, Precocious puberty, Lateral ventricle dilatatio...	ORPHA:356961
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Aicardi Syndrome	Retinal detachment, Cerebellar vermis hypoplasia, Spina bifida, Dilated third ventricle, Choriore...	OMIM:304050
Raine Syndrome	Hypophosphatemia	OMIM:259775
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria	ORPHA:1652
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi...	ORPHA:324636
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Type I diabete...	ORPHA:171
Galloway-Mowat Syndrome	Aqueductal stenosis, Intrauterine growth retardation, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Pagod Syndrome	Encephalocele, Spina bifida, Sudden cardiac death, Meningocele, Optic atrophy, Abnormality of neu...	ORPHA:991
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Thrombo...	ORPHA:534
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Abnormal bleeding, Cerebellar vermis hypoplasia, Cerebellar malformatio...	ORPHA:357058
Neu-Laxova Syndrome 2	Spina bifida, Lissencephaly, Cerebellar hypoplasia, Intrauterine growth retardation, Ventriculome...	OMIM:616038
Joubert Syndrome 27	Molar tooth sign on MRI, Retinopathy	OMIM:617120
Joubert Syndrome 40	Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly	OMIM:613603
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Telangiectasia, Intracranial hemorrhage, Abnormal optic nerve morphology, Arteri...	ORPHA:109
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage	OMIM:606054
Pseudo-Torch Syndrome 3	Hypertension, Cerebellar hypoplasia, Cerebral hemorrhage	OMIM:618886
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Intrauterine growth retardation, Simplified gyral pattern, Neonatal death	OMIM:251230
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive r...	ORPHA:276621
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta	ORPHA:2437
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive r...	ORPHA:29072
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dilation of Virchow-Robin spaces, Retinal dystrophy, Aqueductal stenosis, Hypoplasia of the pons,...	OMIM:619512
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:36238
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Abnormality of neuronal migration, Ar...	OMIM:608836
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess	ORPHA:289176
Hydranencephaly	Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morp...	ORPHA:2177
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Acromelic Frontonasal Dysplasia	Encephalocele, Cryptorchidism, Meningocele, Retrocerebellar cyst, Ventriculomegaly	ORPHA:1827
Isolated Posterior Meningocele	Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora...	OMIM:614868
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Gray matter heterotopia, Retinopathy, Ventriculomegaly	OMIM:617563
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Subdural hemorrhage, Retinal hemorrhage, P...	ORPHA:90324
Anophthalmia Plus Syndrome	Iris coloboma, Spina bifida	ORPHA:1104
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Meningioma	Papilledema, Hypogonadotropic hypogonadism, Cerebral hemorrhage, Abnormal cerebellum morphology, ...	ORPHA:2495
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Intrauterine growth retardation, Abnormality of the uterus	ORPHA:1788
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Joubert Syndrome 37	Cerebellar vermis hypoplasia, Cryptorchidism, Molar tooth sign on MRI, Micropenis, Decreased test...	OMIM:619185
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cardiomyopathy, Hypop...	ORPHA:572798
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Ab...	ORPHA:906
Curry-Jones Syndrome	Lipomyelomeningocele, Chiari type I malformation, Occipital meningocele, Polymicrogyria, Iris col...	OMIM:601707
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Optic atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Dan...	ORPHA:3078
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Cryptorchidism, Meningocele, Abnormal morphology of female internal genitalia, Anoma...	ORPHA:2311
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Epididy...	ORPHA:99827
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,...	OMIM:249000
Tropical Endomyocardial Fibrosis	Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Hypergonadotropic hyp...	ORPHA:251347
Knobloch Syndrome 1	Cerebellar atrophy, Occipital encephalocele, Retinal detachment, Optic disc pallor, Patent ductus...	OMIM:267750
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-...	OMIM:617099
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Spina bifida	ORPHA:1327
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hypoplasia of the...	OMIM:615574
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Intrauterine growth retardation	ORPHA:3035
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Trisomy 18	Abnormality of retinal pigmentation, Spina bifida, Cryptorchidism, Anencephaly, Chiari malformati...	ORPHA:3380
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia	ORPHA:89936
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the ...	OMIM:619306
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Cerebrocostomandibular Syndrome	Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute...	ORPHA:1393
Lateral Meningocele Syndrome	Cryptorchidism, Meningocele, Chiari malformation, Umbilical hernia, Iris coloboma	ORPHA:2789
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Male infertility, Primary testicular failure, Congestive heart failu...	ORPHA:85450
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Spina bifida, Testicular neoplasm, Precocious puberty, Intraventricular hemorrhage, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Spina bifida, Testicular neoplasm, Precocious puberty, Intraventricular hemorrhage, ...	ORPHA:363958
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Mosaic Trisomy 9	Ventriculomegaly, Hypoplasia of penis, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Ab...	ORPHA:99776
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Phakomatosis Pigmentokeratotica	Spina bifida, Raynaud phenomenon, Precocious puberty, Cryptorchidism, Coloboma, Arrhythmia	ORPHA:2874
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Abnormal lymphatic vessel morpho...	ORPHA:464329
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171300
Lateral Meningocele Syndrome	Cryptorchidism, Hydrocephalus, Meningocele, Patent ductus arteriosus, Chiari type I malformation,...	OMIM:130720
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis atrophy	ORPHA:1170
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad...	ORPHA:95699
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Ambiguous genitalia, Cryptorchidism, Patent ductus arteriosus, Stillbirth, Cerebel...	OMIM:616300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Autoinflammatory Disease, Systemic, X-Linked	Chorioretinitis, Optic neuritis, Cerebral hemorrhage	OMIM:301081
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Dpagt1-Cdg	Prolonged QT interval, Abnormal cerebellum morphology, Optic atrophy, Stroke-like episode, Intrac...	ORPHA:86309
Charge Syndrome	Aortic arch aneurysm, Bifid scrotum, Hypogonadotropic hypogonadism, Aqueductal stenosis, Cryptorc...	ORPHA:138
Familial Cerebral Cavernous Malformation	Retinal cavernous angioma, Cerebral hemorrhage, Focal T2 hyperintense brainstem lesion, Focal T2 ...	ORPHA:221061
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Subarachnoid hemorrhage	OMIM:243700
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Hypertension, Infer...	ORPHA:330015
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility	OMIM:185070
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholester...	OMIM:270400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A...	ORPHA:2306
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Chiari malformation	ORPHA:93259
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Pericarditis, Abnormal chorioretinal morphology, Raynaud ph...	ORPHA:3310
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Er...	ORPHA:206448
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis...	ORPHA:63259
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Myelomeningocele, Patent ductus arteriosus, Hydrocephalus, Hypoplastic aorti...	OMIM:306955
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level	OMIM:619767
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Cryptor...	OMIM:620305
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjugated hyperbilirubinemia, Increase...	OMIM:619534
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Adrenal Hypoplasia, Congenital	Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:300200
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tor...	OMIM:175780
Spinocerebellar Ataxia 2	Cerebellar atrophy, Rod-cone dystrophy, Olivopontocerebellar atrophy, Dilated fourth ventricle	OMIM:183090
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Ascending tubular aorta ane...	ORPHA:444072
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Retinal dysplasia, Absent mesencephalon, Cerebellar ...	OMIM:601374
Neu-Laxova Syndrome 1	Ventriculomegaly, Spina bifida, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, Stillbirt...	OMIM:256520
Myotonic Dystrophy 2	Tachycardia, Oligozoospermia, Right bundle branch block, Premature ventricular contraction, Hypog...	OMIM:602668
Osteogenesis Imperfecta	Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Aortic ...	ORPHA:666
Spinocerebellar Ataxia 1	Dilated fourth ventricle, Optic disc pallor, Optic atrophy, Spinocerebellar atrophy, Olivopontoce...	OMIM:164400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl...	ORPHA:276
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Duplication Of The Pituitary Gland	Encephalocele, Congenital stationary night blindness, Abnormal midbrain morphology	ORPHA:314621
Witteveen-Kolk Syndrome	Branchial fistula, Hypospadias, Unilateral cryptorchidism, Phimosis, Intracranial hemorrhage, Mal...	OMIM:613406
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Coarctation of aorta, Molar tooth sign on MRI, Occipital meningocel...	OMIM:277170
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Chiari malformation	ORPHA:93260
Zaki Syndrome	Dilated fourth ventricle, Patent ductus arteriosus, Cerebellar vermis hypoplasia	OMIM:619648
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Kyphoscoliotic Ehlers-Danlos Syndrome	Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia, Bruising susceptibi...	ORPHA:536545
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Varicose veins, Oligozoospermia, Cryptorchidism	OMIM:314300
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Optic nerve compression, Testicular neoplasm	ORPHA:199244
Ataxia-Telangiectasia	Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Acute lymphoblastic leuk...	OMIM:208900
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative...	OMIM:618935
Lumbar Syndrome	Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla...	ORPHA:83628
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration	OMIM:612852
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Hallermann-Streiff Syndrome	Spina bifida, Cryptorchidism, Optic disc coloboma, Telangiectasia, Hypertension, Chorioretinal co...	OMIM:234100
Alexander Disease	Sudden cardiac death, Aqueductal stenosis, Precocious puberty, Hydrocephalus, Hypertension, Hypot...	ORPHA:58
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph...	ORPHA:2369
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Telangiectasia, Oligozoospermia, Azoospermia, ...	ORPHA:125
Joubert Syndrome 17	Molar tooth sign on MRI, Abnormal retinal morphology	OMIM:614615
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocy...	OMIM:612541
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage	OMIM:618480
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,...	ORPHA:508542
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C...	ORPHA:3260
Machado-Joseph Disease Type 1	Cerebellar atrophy, Substantia nigra gliosis, Dilated fourth ventricle	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Substantia nigra gliosis, Dilated fourth ventricle	ORPHA:276241
Fanconi Anemia	Abnormality of the uterus, Hypospadias, Spina bifida, Cryptorchidism, Patent ductus arteriosus, A...	ORPHA:84
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My...	ORPHA:740
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis	OMIM:162200
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Lathosterolosis	Hypoplasia of penis, Meningocele, Chiari malformation, Intrauterine growth retardation, Cerebella...	ORPHA:46059
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Bicornuate ute...	OMIM:154400
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Hepatic necrosis, Hepatocellular necrosis,...	ORPHA:90062
Jacobsen Syndrome	Spina bifida, Cryptorchidism, Coarctation of aorta, Intrauterine growth retardation, Aortic valve...	ORPHA:2308
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Intrauterine growth retardation	ORPHA:79284
Machado-Joseph Disease Type 3	Cerebellar atrophy, Substantia nigra gliosis, Dilated fourth ventricle	ORPHA:276244
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Subdural hemorrhage, Cerebral hemorrhage	OMIM:620278
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI	OMIM:607131
Focal Dermal Hypoplasia	Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus, Chorioretinal coloboma, Umbil...	ORPHA:2092
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Purpura, Hypospadias, Spina bifida, Retinal arteriolar tortuosity, C...	ORPHA:567
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Trisomy 20P	Hypospadias, Spina bifida, Cryptorchidism, Macroorchidism, Umbilical hernia	ORPHA:261318
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Syndromic Diarrhea	Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, T...	ORPHA:84064
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma...	ORPHA:68
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio...	OMIM:613795
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Viss Syndrome	Retinal detachment, Epidural hemorrhage, Tortuous cerebral arteries, Abnormal branching pattern o...	OMIM:619472
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Spina bifida, Hydrocephalus, Ovarian carcinoma, Iris coloboma	OMIM:109400
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Oligozoospermia, Hypertension, Stroke, Oligomenorrhea, Infertility, Ambiguous...	ORPHA:786
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctati...	ORPHA:261183
Waardenburg Syndrome, Type 1	Aplasia of the vagina, Myelomeningocele, Hypopigmentation of the fundus, Spina bifida	OMIM:193500
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle	OMIM:109150
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Pituitary Dermoid And Epidermoid Cysts	Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea	ORPHA:91351
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Orofaciodigital Syndrome Type 6	Molar tooth sign on MRI, Bilateral cryptorchidism, Cerebellar vermis hypoplasia, Abnormality of n...	ORPHA:2754
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Hypoplasia of the brainstem, Ho...	OMIM:610828
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Fibular Hemimelia	Spina bifida, Abnormal heart morphology	ORPHA:93323
Carney Complex	Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Congestive ...	ORPHA:1359
Japanese Encephalitis	Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology	ORPHA:79139
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Micropenis, Molar...	OMIM:619479
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Oligozoospermia	OMIM:614813
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Patent ductus arterios...	OMIM:619869
Oeis Complex	Bifid uterus, Epispadias, Myelomeningocele, Ambiguous genitalia, female, Hydrocephalus, Cryptorch...	OMIM:258040
Marfan Syndrome	Retinal detachment, Congestive heart failure, Descending aortic dissection, Meningocele, Dilatati...	ORPHA:558
Pmm2-Cdg	Pericarditis, Pericardial effusion, Reduced thyroxin-binding globulin, Insulin resistance, Hyperi...	ORPHA:79318
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Intrauterine growth retardation, Subdural hemorrhage	OMIM:619714
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Patent ductus arteriosus, Prolonged bleeding followin...	OMIM:274000
Phocomelia, Schinzel Type	Hypoplasia of penis, Cryptorchidism, Meningocele, Aplasia of the uterus, Intrauterine growth reta...	ORPHA:2879
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia	ORPHA:420741
Cloacal Exstrophy	Hypoplasia of penis, Spina bifida, Myelomeningocele, Abnormality of the clitoris, Abnormal fallop...	ORPHA:93929
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal libido, Priapism	ORPHA:139417
Rubinstein-Taybi Syndrome 1	Hypospadias, Spina bifida, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Patent ...	OMIM:180849
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Joubert Syndrome 38	Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia	OMIM:619476
Split Cord Malformation	Hypospadias, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocep...	ORPHA:573278
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Exstrophy-Epispadias Complex	Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Hydrocephalus, Cryptorchidism, Cystocele, ...	ORPHA:322
Alobar Holoprosencephaly	Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect...	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect...	ORPHA:93924
Semilobar Holoprosencephaly	Hydrocephalus, Abnormal brainstem morphology, Abnormal heart rate variability, Neural tube defect...	ORPHA:220386
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Transposition of the great arte...	OMIM:192350
Reynolds Syndrome	Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia	OMIM:613471
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cortical gyrat...	ORPHA:480880
Campomelic Dysplasia	Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal	OMIM:114290
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Atrioventricular canal defect, Spina bifida	OMIM:619480
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia, Dilatatio...	OMIM:304120
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Alström Syndrome	Hypoplasia of the Leydig cells, Micropenis, Portal hypertension, Drusen, Testicular fibrosis, Dil...	ORPHA:64
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology	ORPHA:293987
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus...	OMIM:276820

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 Kdm2b

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 Kdm2b.

No publications found that use IMPC mice or data for Kdm2b.

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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
Kdm2b^{em1(IMPC)Marc}	Deletion	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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