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Gene: Kdm2b MGI:1354737

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Gene Summary

Name:
lysine (K)-specific demethylase 2B
Synonyms:
Cxxc2,  Fbxl10,  Jhdm1b

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased circulating glucose level Kdm2bem1(IMPC)Marc HET   Early adult 8.88×10-05
decreased circulating phosphate level Kdm2bem1(IMPC)Marc HET Early adult 3.69×10-05
decreased heart left ventricle size Kdm2bem1(IMPC)Marc HET   Early adult 1.93×10-05
increased neutrophil cell number Kdm2bem1(IMPC)Marc HET Early adult 1.81×10-07
decreased lymphocyte cell number Kdm2bem1(IMPC)Marc HET Early adult 1.36×10-05
decreased circulating serum albumin level Kdm2bem1(IMPC)Marc HET Early adult 1.85×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Gonadal dysgenesis, Type II lissencephaly, Cerebellar dysplasia, Retinal dysplasia, Neural tube d... OMIM:615041
Diarrhea 13
Hypoalbuminemia, Recurrent hypoglycemia OMIM:620357
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Retinal coloboma, Hypogonadism, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy OMIM:601794
Joubert Syndrome 15
Retinopathy, Exencephaly, Coloboma, Ambiguous genitalia, Molar tooth sign on MRI, Micropenis, Ret... OMIM:614464
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Retinal coloboma, Polymicrogyria, Encephalocele, Hydrocephalus, Mol... ORPHA:220493
Neurocutaneous Melanocytosis
Ventriculomegaly, Chiari malformation, Chorioretinal coloboma, Abnormality of retinal pigmentatio... ORPHA:2481
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Cardiomyop... OMIM:613752
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Retinal coloboma, Po... OMIM:616546
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Cerebellar atrophy, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:619260
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Macular coloboma, Retinal coloboma OMIM:107550
Micro Syndrome
Lissencephaly, Optic atrophy, Cerebellar vermis hypoplasia, Retinal coloboma, Intrauterine growth... ORPHA:2510
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone dystrophy ORPHA:363741
Kapur-Toriello Syndrome
Retinal coloboma, Tetralogy of Fallot, Polymicrogyria, Hypoplastic labia majora, Pachygyria, Hypo... ORPHA:2328
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Joubert Syndrome 14
Optic atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar ... OMIM:614424
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma, Umbilical hernia ORPHA:2196
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy... OMIM:209950
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Pelvis-Shoulder Dysplasia
Hydranencephaly, Retinal coloboma, Ambiguous genitalia, Hydrocephalus, Spina bifida, Iris coloboma ORPHA:2839
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hypoplasia of the pons, Retinal coloboma, Hypoplasia of the brainstem, Dilated fourth ventricle, ... OMIM:300749
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Cerebral Cavernous Malformations
Retinal vascular malformation, Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Kapur-Toriello Syndrome
Retinal coloboma, Polymicrogyria, Pachygyria, Intrauterine growth retardation, Cryptorchidism, Hy... OMIM:244300
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc... ORPHA:507
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Brain Small Vessel Disease 2
Subcortical heterotopia, Ventriculomegaly, Intracranial hemorrhage, Polymicrogyria OMIM:614483
Joubert Syndrome 5
Occipital encephalocele, Retinal coloboma, Thickened superior cerebellar peduncle, Rod-cone dystr... OMIM:610188
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the pons, Cardiomyopathy,... ORPHA:370959
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Abnormal cerebellum morphology,... ORPHA:97339
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Hypoplasia of the brainstem, Dilated fourth v... OMIM:615771
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Cerebellar malformation, Colobo... ORPHA:324416
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Retinal coloboma, Gray matter het... OMIM:619775
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia OMIM:618805
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Enterovirus Infection
Hypoalbuminemia, Cardiomyopathy, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage mo... ORPHA:292
Joubert Syndrome 16
Encephalocele, Coloboma, Molar tooth sign on MRI, Retinal dystrophy, Dandy-Walker malformation OMIM:614465
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... ORPHA:2070
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia... ORPHA:1667
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Occipital encephalocele, Optic disc coloboma, Retinal coloboma, Pol... OMIM:615948
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Glycosuria OMIM:618913
Blue Diaper Syndrome
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia ORPHA:94086
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lis... OMIM:613153
Hemochromatosis, Type 3
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:604250
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Cerebellar vermis hypoplasia, Ventriculomegaly, Aortic root aneurysm, Umbilical hernia, Retinal c... OMIM:620654
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus OMIM:616026
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Periventricular Nodular Heterotopia 1
Stroke, Abnormality of neuronal migration, Cerebellar hypoplasia, Cerebral hemorrhage, Gray matte... OMIM:300049
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Coarctation of aorta, E... ORPHA:280195
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Papillorenal Syndrome
Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper... OMIM:120330
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia OMIM:617575
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... ORPHA:2298
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Retinopathy, Molar tooth sign on MRI OMIM:617562
Coloboma Of Macula
Macular coloboma OMIM:120300
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Coloboma Of Macula And Skeletal Anomalies
Macular coloboma OMIM:216800
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, A... ORPHA:231160
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Atrial septal defect, Hypog... OMIM:620211
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Alg1-Cdg
Hypoalbuminemia, Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Renal Coloboma Syndrome
Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma ORPHA:1475
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocardi... ORPHA:31824
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia OMIM:619013
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Oculoauricular Syndrome
Chorioretinal coloboma, Retinal coloboma, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular... OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Type II lissencephaly, Cerebellar hypoplasia, Hydrocephalus, Retinal dysplasia OMIM:614830
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Dandy-Walker Syndrome
Agenesis of cerebellar vermis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebe... OMIM:220200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Hypospadias, Ventriculomegaly, Retinal coloboma, Tetralogy of Fallot, Trunc... ORPHA:508498
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration OMIM:311000
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Hypophosphatemia, Fasting hypoglycemia, Hypertriglyceride... ORPHA:2088
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Ventriculomegaly, Subdural hemorrhage, Lateral ventricle dilatation... OMIM:618291
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Perimembranous ventricular septal... OMIM:608104
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration ORPHA:446
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
47,Xyy Syndrome
Varicocele, Dysgenesis of the cerebellar vermis, Male infertility, Abnormal brainstem morphology,... ORPHA:8
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Acalvaria
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bif... ORPHA:945
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Methanol Poisoning
Abnormal optic nerve morphology, Inflammatory arteriopathy, Permanent atrial fibrillation, Abnorm... ORPHA:31825
Otodental Syndrome
Lens coloboma, Iris coloboma, Retinal coloboma ORPHA:2791
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Chorioretinal atrophy, Hydrocephalus, Vascular d... OMIM:220220
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Retinal thinning, Cerebellar dysplasia, Dilated fourth ventricle, R... OMIM:615960
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Inferior cerebellar vermis hypoplasia, Retinal coloboma OMIM:618571
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Coach Syndrome 2
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Hydrocephalus, Molar tooth sign o... OMIM:619111
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia OMIM:605911
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Retinal coloboma, Bilateral cryptorchidism, Dilated fourth ventricle, Pe... ORPHA:434179
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditis, Lung a... ORPHA:67
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac... OMIM:227810
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Orofaciodigital Syndrome Ix
Retinal coloboma OMIM:258865
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Retinal coloboma, Vascular dilatation, Spina bifida occulta, Iris coloboma OMIM:607323
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Glycosuria OMIM:134600
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect OMIM:616730
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Congestive heart failure, Azoospermia, Oligozoospermia... OMIM:615703
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Molar tooth sign on MRI, Retinal dystrophy,... OMIM:617622
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... ORPHA:540
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemor... ORPHA:79282
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Pericardial effusion OMIM:608776
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Cystinosis
Hypokalemia, Type I diabetes mellitus, Hypophosphatemia ORPHA:213
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Joubert Syndrome 22
Retinal dysplasia, Intrauterine growth retardation, Coloboma, Molar tooth sign on MRI, Agenesis o... OMIM:615665
Mpi-Cdg
Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Bradycardia, Petechiae, Cerebella... OMIM:617397
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the optic nerve, Retinal dystrophy, Optic ... ORPHA:423479
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... OMIM:617751
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Cerebral Visual Impairment
Optic atrophy, Ischemic stroke, Hydrocephalus, Retinopathy of prematurity, Optic disc pallor, Int... ORPHA:447788
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con... OMIM:619313
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Momo Syndrome
Retinal coloboma OMIM:157980
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic ane... ORPHA:37042
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Cardiomyopathy, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia, H... ORPHA:289157
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Decreased testicular size, Azoospermia, Ischemic str... ORPHA:280679
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Pseudopapilledema, Stroke, Intracranial hemorrhage ORPHA:140989
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly, Atrial septal defect, Neu... OMIM:617303
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria OMIM:613388
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia OMIM:620443
Joubert Syndrome 9
Ventriculomegaly, Encephalocele, Molar tooth sign on MRI, Retinal dystrophy OMIM:612285
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Chorioretinal coloboma, Hypoplasi... OMIM:610688
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hepatosplenomegaly, Hypophosphatemia, Hypophosphatemi... OMIM:307800
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat... ORPHA:88618
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circu... OMIM:251880
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Dilated fourth ventricle, Intrauterine growt... OMIM:620428
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Meckel Syndrome, Type 10
Hypospadias, Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar toot... OMIM:614175
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618838
Microphthalmia/Coloboma 9
Iris coloboma, Retinal detachment, Macular coloboma OMIM:615145
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia OMIM:617093
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Abscess, Elevated c... ORPHA:36234
Propionic Acidemia
Hypoglycemia, Hyperammonemia, Cardiomyopathy ORPHA:35
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Mol... OMIM:611134
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Dilated cardiomyopathy ORPHA:367
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Chorioretinal coloboma, Umbilical hernia, Tetralogy of Fall... OMIM:280000
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Retinal vascular malformation, Arteriovenous malformation, Abnormal... ORPHA:53719
Al Amyloidosis
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Howell-Jolly bodies, Abnormal heart morph... ORPHA:85443
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Pearson Syndrome
Glycosuria, Cardiomyopathy, Hypomagnesemia, Abnormal heart morphology, Pancytopenia, Hypocalcemia... ORPHA:699
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia ORPHA:469
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Mirage Syndrome
Microphallus, Decreased testicular size, Intrauterine growth retardation, Petechiae, Cryptorchidi... OMIM:617053
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Dila... ORPHA:171680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Subcortical heterotopia, Ventriculomegaly, Hypoplasia of the brainstem, Type II li... OMIM:614643
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia, Hypoglycemia ORPHA:664
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi... ORPHA:449285
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Steinfeld Syndrome
Holoprosencephaly, Iris coloboma, Retinal coloboma OMIM:184705
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hypoglycemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:618329
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Multiple muscular ventricular septal defects, Hypernatremia, Pulmonic stenosis OMIM:615508
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular... ORPHA:79324
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Encephalocele, Abnormality of neuronal migr... ORPHA:2318
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar vermis, Chorioretinal coloboma, Hy... OMIM:608091
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Neonatal hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619055
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Tricuspid... OMIM:620371
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebellar dentate nucleus calcification, Cerebral hemorrhage ORPHA:542310
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Muscle-Eye-Brain Disease
Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Pigmentary retinopathy, Enlarged fossa interpeduncularis, Lateral v... OMIM:608629
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Lissencephaly, Abnormal cortical gyration, Bifid scrotum, Polymicrogyr... ORPHA:2211
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Subependymal Nodular Heterotopia
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Nas... ORPHA:101030
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Pericardial ef... OMIM:618183
Hemophilia B
Menometrorrhagia, Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneou... ORPHA:98879
Chiari Malformation Type Ii
Cervical myelopathy, Chiari malformation, Myelomeningocele, Hydrocephalus, Spina bifida, Gray mat... OMIM:207950
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatosplenomegaly, Left ventricular hypertrophy, Anemia, Pericardial effusion, ... OMIM:619487
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Retinal... OMIM:611560
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Decreased... OMIM:300845
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar verm... OMIM:213300
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Branchial cyst, Retinal coloboma, Intrauterine growth retardation, T... ORPHA:508488
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... OMIM:231100
Humero-Radial Synostosis
Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Tetralogy of Fallo... OMIM:222470
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Hypoglycemia, Elevated circulating creati... ORPHA:99826
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph... ORPHA:3337
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Spina bifida occulta, Retinal coloboma, Varicose veins ORPHA:500095
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugat... OMIM:617156
Juvenile Nephropathic Cystinosis
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Macular degeneration, Medial calcification of large arteries, Angioi... OMIM:177850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Type II lissencephaly, Cryptorchidism, Retinal detachment, Kinked brains... OMIM:236670
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Coach Syndrome 1
Cerebellar vermis hypoplasia, Occipital encephalocele, Aplasia/Hypoplasia of the cerebellar vermi... OMIM:216360
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Joubert Syndrome 18
Agenesis of cerebellar vermis, Intrauterine growth retardation, Occipital encephalocele, Molar to... OMIM:614815
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Dent Disease 1
Hypophosphatemia, Glycosuria OMIM:300009
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Sneddon Syndrome
Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Menometrorrhagia, Abnormal bleeding, Cerebral hemorrhage ORPHA:98880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Ventriculomegaly, Dilated third ventricle, Pigmentary retinopathy, Hypoplasia of t... OMIM:613154
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Optic atrophy, Dilated cardiomyopathy, Hypoplasia of the brainstem, Type II lissen... OMIM:253800
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Cerebellar atrophy, Periventricular heterotopia, Doub... OMIM:619895
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Cardiomyopathy, Hypocholesterolemia, Thrombocytosis, Pericardial effusion, Peric... OMIM:212065
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Hypertrophic cardiomyopathy, Abnormal heart morphology, Hepatosplenomegaly, Leuk... ORPHA:505248
Amish Lethal Microcephaly
Optic atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Spina bifida, Lissencephaly ORPHA:99742
Peters-Plus Syndrome
Hypospadias, Ventriculomegaly, Umbilical hernia, Retinal coloboma, Intrauterine growth retardatio... OMIM:261540
Thauvin-Robinet-Faivre Syndrome
Coloboma, Retinal coloboma, Varicose veins OMIM:617107
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Deafness-Lymphedema-Leukemia Syndrome
Abnormal optic nerve morphology, Intracranial hemorrhage, Bruising susceptibility, Prolonged blee... ORPHA:3226
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Transient hypophosphatemia, Hyp... ORPHA:79102
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,... ORPHA:90363
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Fetal Gaucher Disease
Intracranial hemorrhage, Stillbirth, Neonatal death ORPHA:85212
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Chorioretinal scar, Subarachnoid hemorrhage OMIM:277175
Charge Syndrome
Hypoplastic male external genitalia, Umbilical hernia, Tetralogy of Fallot, Retinal coloboma, Ext... OMIM:214800
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Glycosuria ORPHA:411629
Chime Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Retinal coloboma ORPHA:3474
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Tarp Syndrome
Optic atrophy, Cerebellar vermis hypoplasia, Subdural hemorrhage, Tetralogy of Fallot, Intrauteri... OMIM:311900
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Occipital encephalocele,... ORPHA:397715
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Abnormal cerebellum morphology, Molar tooth sign on MRI, Polymicrogyria OMIM:617757
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Abnormality of retinal pigmentation ORPHA:1496
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Ventriculomegaly, Chiari type I malformation, Intraventricular hemorrhage ORPHA:401986
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib... ORPHA:52901
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Triploidy
Hypospadias, Intrauterine growth retardation, Cryptorchidism, Ambiguous genitalia, Hydrocephalus,... ORPHA:3376
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... ORPHA:91387
Orthostatic Hypotension 2
Anemia, Hypoglycemia OMIM:618182
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Molar tooth sign on MRI OMIM:617127
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia OMIM:229600
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Ventricular septal defect, Atrial septal defect, Pericardial effusion, Pericardi... OMIM:235510
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Noonan Syndrome 12
Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Ventricular septal defect OMIM:618624
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Panc... OMIM:251110
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Ventriculomegaly, Communicating hydrocephalus, Subdural hemorrhage ORPHA:25
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Glycosuria, Hypomagnesemia, Hypophosphatemic ricke... OMIM:219800
Arima Syndrome
Optic atrophy, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Hypoplasia of the brainstem,... OMIM:243910
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Aspergillosis
Stroke, Intracranial hemorrhage, Vitritis ORPHA:1163
Wildervanck Syndrome
Meningocele ORPHA:3456
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Diabetes mellitus ORPHA:249
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov... ORPHA:91348
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Lateral ventricle dilatation, Hyphema, Enlarged cerebellum, Cryptorchidism... ORPHA:261552
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Hydrocephalus, Molar tooth sign on M... ORPHA:220497
Pettigrew Syndrome
Optic atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Hydrocephalus, Aqueductal stenosis... OMIM:304340
Mccune-Albright Syndrome
Pancytopenia, Hypophosphatemia ORPHA:562
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... ORPHA:1120
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Lateral ventricle dilatation, Enlarged cerebellum, Cryptorchidism, Chordee... ORPHA:261537
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Mowat-Wilson Syndrome
Aortic valve stenosis, Enlarged cerebellum, Cryptorchidism, Chordee, Hypospadias, Iris coloboma, ... ORPHA:2152
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Spinocerebellar Ataxia, Autosomal Recessive 33
Cerebellar hypoplasia, Dilated fourth ventricle, Simplified gyral pattern, Arrhythmia OMIM:620208
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Parkes Weber Syndrome
Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Myelopathy, Venous malformati... ORPHA:90307
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebel... OMIM:614831
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy, Molar tooth sign on MRI OMIM:617121
Opsismodysplasia
Hypophosphatemia OMIM:258480
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Arachnoid Cyst
Enlarged fossa interpeduncularis, Chiari malformation, Abnormal cerebellum morphology, Encephaloc... ORPHA:2356
Superficial Siderosis
Arteriovenous malformation, Abnormal bleeding, Cerebellar atrophy, Abnormal vertebral artery morp... ORPHA:247245
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Cryptorchidism, Cerebellar hypoplasia, Hydrocephalus, Micropenis, Heart ... ORPHA:163979
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Wilson Disease
Hypouricemia, Hypoalbuminemia, Glycosuria, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, In... OMIM:277900
Alg3-Cdg
Hypoplasia of the pons, Cardiomyopathy, Dandy-Walker malformation, Coarctation of the descending ... ORPHA:79321
Combined Oxidative Phosphorylation Deficiency 25
Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the pons, Intraventricular hemorrhage OMIM:616430
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957