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Gene: Camsap3 MGI:1916947

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Gene Summary

Name:
calmodulin regulated spectrin-associated protein family, member 3
Synonyms:
2310057J16Rik,  Nezha

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
male infertility Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased body length Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 2.15×10-07
increased total body fat amount Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 5.47×10-06
decreased lean body mass Camsap3tm1a(EUCOMM)Wtsi HOM   Early adult 2.76×10-06
increased gamma-delta T cell number Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating chloride level Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 2.28×10-06
decreased blood urea nitrogen level Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 1.97×10-05
decreased circulating glucose level Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 1.78×10-06
abnormal lens morphology Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 4.21×10-05
decreased circulating HDL cholesterol level Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 3.40×10-05
decreased circulating cholesterol level Camsap3tm1a(EUCOMM)Wtsi HOM   Early adult 8.07×10-05
abnormal auditory brainstem response Camsap3tm1a(EUCOMM)Wtsi HOM   Early adult 1.19×10-10
decreased hemoglobin content Camsap3tm1a(EUCOMM)Wtsi HET Early adult 1.50×10-06
increased neutrophil cell number Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased bone mineral content Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 3.05×10-14
cataract Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 4.21×10-05
absent pinna reflex Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 2.10×10-19
preweaning lethality, incomplete penetrance Camsap3tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
corneal opacity Camsap3tm1a(EUCOMM)Wtsi HOM   Early adult 1.75×10-06
abnormal cornea morphology Camsap3tm1a(EUCOMM)Wtsi HOM   Early adult 5.82×10-06
trunk curl Camsap3tm1a(EUCOMM)Wtsi HOM   Early adult 6.62×10-05
increased leukocyte cell number Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 3.04×10-08
fused cornea and lens Camsap3tm1a(EUCOMM)Wtsi HOM   Early adult 1.46×10-05
female infertility Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating glycerol level Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 2.66×10-08
decreased circulating cholesterol level Camsap3tm1a(EUCOMM)Wtsi HET Early adult 1.30×10-07
increased circulating thyroxine level Camsap3tm1a(EUCOMM)Wtsi HOM   Early adult 3.01×10-05
increased circulating sodium level Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 2.73×10-06
decreased bone mineral density Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 5.85×10-11
abnormal bone structure Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 2.21×10-18
increased circulating alkaline phosphatase level Camsap3tm1a(EUCOMM)Wtsi HOM Early adult 3.54×10-23
decreased circulating HDL cholesterol level Camsap3tm1a(EUCOMM)Wtsi HET Early adult 2.12×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Forepaw

12 Images

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Eye Morphology

Images Slit Lamp

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

10 Images

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Legacy Phenotype Associated Images
Camsap3tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Camsap3tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Camsap3tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Camsap3tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Camsap3tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 60 images

Camsap3tm1a(EUCOMM)Wtsi
fused cornea and lens, HOM, Female, WTSI
Camsap3tm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Camsap3tm1a(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Female, WTSI
Camsap3tm1a(EUCOMM)Wtsi
fused cornea and lens, HOM, Female, WTSI
Camsap3tm1a(EUCOMM)Wtsi
fused cornea and lens, HOM, Female, WTSI

View all 11 images

Camsap3tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Camsap3tm1a(EUCOMM)Wtsi
head, abnormal snout morphology, upturned snout, HOM, Male, WTSI
Camsap3tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Camsap3tm1a(EUCOMM)Wtsi
abnormal snout morphology, asymmetric snout, malocclusion, head, HOM, Male, WTSI
Camsap3tm1a(EUCOMM)Wtsi
head, abnormal snout morphology, asymmetric snout, malocclusion, HOM, Male, WTSI

View all 10 images

Camsap3tm1a(EUCOMM)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Camsap3tm1a(EUCOMM)Wtsi
brain, microcephaly, HOM, Male, WTSI
Camsap3tm1a(EUCOMM)Wtsi
internal capsule, decreased brain internal capsule size, HOM, Male, WTSI
Camsap3tm1a(EUCOMM)Wtsi
decreased anterior commissure size, anterior commissure, HOM, Male, WTSI
Camsap3tm1a(EUCOMM)Wtsi
internal capsule, decreased brain internal capsule size, HOM, Male, WTSI

View all 7 images

Human diseases caused by Camsap3 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 Camsap3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Small for gestational age, Villous atrophy OMIM:613217
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Protein-losing enteropathy, Villous atrophy OMIM:615863
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Abnormal auditory evoked poten... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Abnormal conjunctiva morphology, Sensorineural hearing impairment, Abnormal audito... ORPHA:529808
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment, Infertility OMIM:300719
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Winchester Syndrome
Carpal osteolysis, Generalized osteoporosis, Osteolysis involving tarsal bones, Corneal opacity OMIM:277950
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Spondylo-Ocular Syndrome
Thoracic kyphosis, Low-set ears, Cataract, Retinal detachment, Osteoporosis, Aplasia/Hypoplasia o... ORPHA:85194
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Abnormality of the liver, Corneal opacity, Hepatomegaly, Microcephaly, Th... ORPHA:1980
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Carpal osteolysis, Osteoporosis, Double outlet right ventricle, Papilledema, Ventricul... ORPHA:371428
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Stiff Skin Syndrome
Lipodystrophy, Elbow flexion contracture, Cataract, Knee flexion contracture, Bicuspid aortic val... OMIM:184900
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Pectus excavatum, Microspherophakia, Megalocornea, Ectopia l... OMIM:251750
Pyruvate Carboxylase Deficiency
Hypoglycemia, Dystonia, Hyperintensity of cerebral white matter on MRI, Hyperammonemia, Tremor, I... ORPHA:3008
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Galactosialidosis
Cherry red spot of the macula, Corneal opacity, Hearing impairment ORPHA:351
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Hearing impairment, Tremor OMIM:312910
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Corneal opacity, Hepatomegaly, Microphthalmia ORPHA:2432
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormality of retinal pigmentation, Cataract, Co... ORPHA:290
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Developmental cataract, Decreased LDL cholesterol concentration, Failure to thrive, Hypocholester... OMIM:616834
Neuroleptic Malignant Syndrome
Hyponatremia, Leukocytosis, Oculogyric crisis, Thrombocytosis, Hyperkalemia, Hypocalcemia, Abnorm... ORPHA:94093
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Aganglionic megacolon, Abnormality of the small intestine, Failure ... ORPHA:95427
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma OMIM:157151
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Chorioretinal coloboma, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Astigmatism,... ORPHA:284169
Alg8-Cdg
Hyponatremia, Small for gestational age, Low-set ears, Cataract, Leukoencephalopathy, Anemia, Fai... ORPHA:79325
Sialidosis Type 2
Flexion contracture, Short thorax, Corneal opacity, Splenomegaly, Hepatomegaly, Osteoporosis, Ing... ORPHA:87876
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot ORPHA:1381
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Joint stiffness, Pulmonic stenosis, Microspherophakia, Aortic valve ste... OMIM:614819
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Mucolipidosis Type Iii
Joint stiffness, Abnormal heart valve morphology, Craniofacial hyperostosis, Corneal opacity, Abn... ORPHA:577
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cataract, Corneal opacity, Retinal detachment, Elevated circulating creatine kinase conce... OMIM:613153
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment, Inguinal hernia OMIM:157150
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Agenesis of corpus callosum, Low-set ears, Patent ductus arteriosus, Sens... OMIM:243310
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the corpus callosum, Patent foramen ovale, Patent ductus arteriosus, Sensorineural ... ORPHA:500159
Kniest Dysplasia
Joint stiffness, Short thorax, Rhegmatogenous retinal detachment, Abnormal bone structure, Catara... ORPHA:485
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Mucous Membrane Pemphigoid
Corneal opacity, Atypical scarring of skin ORPHA:46486
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Osteopenia, Elbow flexion contracture, Patent ductus arteriosus, Aortic ro... OMIM:121050
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Retinal degeneration, Dystonia, Corneal opac... OMIM:252650
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cataract, Osteoarthritis, Elevat... OMIM:606069
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Microcornea, Cataract, Sensorineural hearing imp... OMIM:161200
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Orthostatic hypotension, Hashimoto thyroiditis, Adrenocorticotropin deficient adren... ORPHA:199299
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Abnormal small intestinal mucosa morphology, Anal at... ORPHA:92050
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Retinal degeneration, Atrial septal defect, Obesity, Diabetes mellitus, B... OMIM:615981
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation, Posterior cerebral artery stenosis, Patent ductus arteriosus, Thoraci... OMIM:132900
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity, Reduced bone mineral density ORPHA:2370
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Hearing impairment, Tremor OMIM:165300
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Decreased body weight, Hyponatremia, Abnormali... ORPHA:1667
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Low-set ears, Patent ductus arteriosus, Atrial septal defect, Cavum septum ... ORPHA:329224
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Cerebral vasculitis, Abnormal ... ORPHA:83601
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Dermoids Of Cornea
Corneal opacity OMIM:304730
Alpha-Mannosidosis
Abnormal helix morphology, Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, In... ORPHA:61
Craniofaciofrontodigital Syndrome
Large for gestational age, Finger joint hypermobility, Osteopenia, Abnormal heart valve morpholog... ORPHA:363705
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Absent earlobe, Retinal coloboma, Low-set ears, S... OMIM:612109
Sneddon Syndrome
Tremor, Bicuspid aortic valve, Facial palsy, Lymphopenia, Ischemic stroke, Atrophic scars OMIM:182410
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614496
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left heart, Ve... OMIM:618845
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy OMIM:614162
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Protein-losing enteropathy, Villous atrophy OMIM:602579
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Sensorineural hearing impairment, C... ORPHA:1473
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Recurrent fractures, Delayed puberty, Cataract, Osteoporosis, Secondary growt... ORPHA:2410
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Smal... ORPHA:79237
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Cataract, Decreased movement range in interph... OMIM:609115
Cantu Syndrome
Large for gestational age, Cardiomegaly, Congenital hypertrophy of left ventricle, Patent ductus ... OMIM:239850
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Duodenitis, Villous atrophy OMIM:614328
Trichohepatoenteric Syndrome 2
Colitis, Failure to thrive, Small for gestational age, Villous atrophy OMIM:614602
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hernia, Sensorineural hearing impairment, Abnormal nerve conduct... ORPHA:93476
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Flexion contracture, EEG abnormality, Corneal opa... OMIM:618815
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Joint laxity, Aortic dissection, Flat cornea, Inguinal hernia, Bicuspid aor... OMIM:614816
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hypothyroidism, Flexion contracture, Osteopenia, Thrombocytosis, Hepatomegaly,... OMIM:212065
Classic Galactosemia
Decreased fertility in females, Hypoglycemia, Dystonia, Action tremor, Delayed puberty, Primary a... ORPHA:79239
Pituitary Apoplexy
Central diabetes insipidus, Hypoglycemia, Hyponatremia, Abnormal caudate nucleus morphology, Olig... ORPHA:95613
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Optic nerve hypoplasia, Double outlet right ventricle, Microcephaly, Ventricular sep... OMIM:301056
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Failure to thrive, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia, Failure to thrive OMIM:125800
Alg12-Cdg
Progressive microcephaly, Retinal detachment, Abnormal bone ossification, Thrombocytopenia, Paten... ORPHA:79324
Webb-Dattani Syndrome
Hypoplasia of the corpus callosum, Diabetes insipidus, Microcephaly, Pituitary hypothyroidism, Hy... OMIM:615926
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Increased... OMIM:610600
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Proprotein Convertase 1/3 Deficiency
Obesity, Malabsorption, Villous atrophy OMIM:600955
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Opacification of the corneal strom... OMIM:136120
Addison Disease
Hypoglycemia, Orthostatic hypotension, Primary adrenal insufficiency, Hashimoto thyroiditis, Thym... ORPHA:85138
Galactosemia
Hypergalactosemia, Decreased fertility, Hepatic failure, Dystonia, Action tremor, Primary amenorr... ORPHA:352
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Generalized osteoporosis, 11 pairs of ribs, Osteoporosis, Inguinal hernia, ... OMIM:245600
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Small for gestational age, Patent ductus arteriosus, Atrial septal defect, Microcephaly, Bicuspid... OMIM:613355
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Hypoglycemia, Patent foramen ovale, Low-set ears, Atrial sep... ORPHA:457279
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Osteoporosis, Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Diabetes mellitus, Protruding ear, Weight loss, Hearing impairment ORPHA:317
Abetalipoproteinemia
Corneal ulceration, Hypothyroidism, Anemia, Hyperbilirubinemia, Cardiomegaly, Decreased LDL chole... ORPHA:14
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Corneal scarrin... ORPHA:101330
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Galactosemia Ii
Hypergalactosemia, Cataract OMIM:230200
Adenohypophysitis
Orthostatic hypotension, Panhypopituitarism, Hashimoto thyroiditis, Decreased serum estradiol, In... ORPHA:95512
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Osteo... ORPHA:99413
Mosaic Monosomy X
Biliary cirrhosis, Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Osteo... ORPHA:99228
Monosomy X
Biliary cirrhosis, Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Osteo... ORPHA:99226
Turner Syndrome
Biliary cirrhosis, Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Osteo... ORPHA:881
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Intention tremor, Microcornea, Cataract, Osteoporosi... ORPHA:48431
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Sialidosis Type 1
Cherry red spot of the macula, EEG abnormality, Short thorax, Hernia, Sensorineural hearing impai... ORPHA:812
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Optic nerve hypoplasia, Generalized joint laxity, Microcephaly... ORPHA:508498
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metatarsal osteolysis, Carpal osteolysis, Corneal opacity, Metacarpal osteolysis, Con... OMIM:166300
Retinitis Pigmentosa 89
Hepatosplenomegaly, Bicuspid aortic valve, Intrahepatic bile duct dilatation, Micronodular cirrho... OMIM:618955
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Panhypophysitis
Orthostatic hypotension, Abnormality of the posterior pituitary, Panhypopituitarism, Hashimoto th... ORPHA:95513
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Microcephaly, Bicuspid aortic... OMIM:612474
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Joint stiffness, Elbow flexion contracture, Iridodonesis, Patent ductus... OMIM:608328
Chédiak-Higashi Syndrome
Pancytopenia, Abnormal leukocyte morphology, Anemia, Abnormality of neutrophil physiology, Iris h... ORPHA:167
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:607765
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Neonatal... ORPHA:90791
Sheehan Syndrome
Orthostatic hypotension, Hypoglycemia, Panhypopituitarism, Hashimoto thyroiditis, Decreased serum... ORPHA:91355
Holoprosencephaly
Hypoglycemia, Dystonia, Diabetes insipidus, Failure to thrive in infancy, Panhypopituitarism, Apl... ORPHA:2162
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Cerebral atrophy, Microcephaly, Bicuspid aortic valve, Hypoplasia of the corpus callosum, Aortic ... OMIM:615599
Cystinosis, Nephropathic
Glycosuria, Exocrine pancreatic insufficiency, Hypokalemia, Failure to thrive in infancy, Hypopho... OMIM:219800
Congenital Disorder Of Glycosylation, Type Id
High palate, Failure to thrive, Bifid uvula, Villous atrophy OMIM:601110
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Koolen-De Vries Syndrome
Hypothyroidism, Aplasia/Hypoplasia of the corpus callosum, Cataract, Pectus excavatum, Microcepha... ORPHA:96169
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ... ORPHA:556037
Norrie Disease
EEG abnormality, Erectile dysfunction, Retinal detachment, Microcephaly, Diabetes mellitus, Protr... ORPHA:649
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Developmental cataract, Hypertrophic cardiomyopathy, Hepatomegaly, Ne... OMIM:618810
Shigellosis
Corneal ulceration, Hypoglycemia, Hyponatremia, Hepatic failure, Failure to thrive in infancy, Ch... ORPHA:810
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hyponatremia, Hypopituitarism, Increased circulating prolactin concen... ORPHA:91354
Netherton Syndrome
Failure to thrive, Abnormal intestine morphology, Intestinal atresia, Villous atrophy OMIM:256500
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Cofs Syndrome
Cerebral calcification, Joint stiffness, Sensorineural hearing impairment, Abnormality of retinal... ORPHA:1466
Gómez-López-Hernández Syndrome
Corneal opacity, Low-set ears ORPHA:1532
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal helix morphology, Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve ... ORPHA:1120
Oculogastrointestinal Neurodevelopmental Syndrome
Simple ear, Microcephaly, Coloboma, Bicuspid aortic valve, Bilateral microphthalmos, Unilateral m... OMIM:619318
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Villous atrophy OMIM:616050
Potocki-Lupski Syndrome
Hypothyroidism, EEG abnormality, Patent foramen ovale, Small for gestational age, Atrial septal d... OMIM:610883
Herpes Simplex Virus Encephalitis
EEG abnormality, Leukocytosis, Hyponatremia, Neutrophilia, Elevated circulating C-reactive protei... ORPHA:1930
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Patent ductus arteriosus, Ao... ORPHA:91387
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ... ORPHA:556030
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Hypercholesterolemia, Overweight, Bicuspid aortic valve, Type II diabetes... ORPHA:401923
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremia, Failure to thrive ORPHA:223
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Corneal opacity, Radioulnar synostosis, Camptodactyly of finger, Mega... ORPHA:2741
Dystonia 31
Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Writer's cramp, Ar... OMIM:619565
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Hypoglycemia, Hyponatremia, Decreased body weight, Leu... OMIM:617053
Hengel-Maroofian-Schols Syndrome
Cerebral atrophy, Dystonia, Contractures involving the joints of the feet, Microcephaly, Bicuspid... OMIM:619641
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Cystinosis
Hypokalemia, Hypothyroidism, Delayed puberty, Corneal opacity, Failure to thrive, Nephrogenic dia... ORPHA:213
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microcornea, Cataract, Microcephaly, Simplified gyral pattern, Microphthalmia, ... OMIM:616171
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Posttransplant Acute Limbic Encephalitis
EEG with focal epileptiform discharges, Dystonia, Hyponatremia, Abnormal hippocampus morphology, ... ORPHA:163921
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Opacification of the corneal stroma, Normochromic anemia,... OMIM:245900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Hyperuricemia, Anemia, Failure to thrive, Diabetes mellitus, Hypomagnes... OMIM:613845
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Koolen-De Vries Syndrome
Hypoplasia of the corpus callosum, Patent ductus arteriosus, Aortic root aneurysm, Anteverted ear... OMIM:610443
Weiss-Kruszka Syndrome
Horizontal crus of helix, Hypoplasia of the corpus callosum, Cupped ear, Colpocephaly, Agenesis o... OMIM:618619
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Cataract, Retinal dysplasia, Elevated circulating creatine kinase concentrat... OMIM:613154
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Joint stiffness, Aortic valve stenosis, Patent ductus arteriosus, Catar... OMIM:277600
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Overfold... OMIM:619149
Proteus Syndrome
Multiple lipomas, Venous malformation, Splenomegaly, Mandibular hyperostosis, Facial hyperostosis... OMIM:176920
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight, Abnormality of the... ORPHA:99852
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyponatremia, Hyperkalemia, Congenital hypothyroidism, Failure to thrive, Precociou... OMIM:614736
Walker-Warburg Syndrome
Abnormal cortical gyration, Retinal detachment, Retinal dysplasia, Microcephaly, Lissencephaly, M... ORPHA:899
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Increased circulating androgen concentration, Hyperactive renin-an... ORPHA:90794
Morquio Syndrome C
Corneal opacity OMIM:252300
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Osteoporosis, Elev... ORPHA:289548
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Low-set ears, Cavum septum pellucidum, Bicuspid a... OMIM:615009
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting... ORPHA:83461
Cockayne Syndrome Type 1
Anophthalmia, Contractures involving the joints of the feet, Optic atrophy, Increased blood urea ... ORPHA:90321
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Vacuolated lymphocytes, Cataract, Macular degeneration, Concentric hypertrophic... OMIM:204200
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia, Increased circulating renin l... ORPHA:95409
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased fertility, Adrenocorticotropic hormone excess, Neonatal hypoglycemia, Hyponatremia, Pri... ORPHA:168558
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Cataract, Elevated circulating aspartate aminotransferase concentration, He... OMIM:614876
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Cataract, Increased adipose tissue OMIM:617404
Familial Dysautonomia
Orthostatic hypotension, Heterochromia iridis, Hyponatremia, Recurrent fractures, Corneal opacity... ORPHA:1764
Williams Syndrome
Hypothyroidism, Failure to thrive in infancy, Blue irides, Osteoporosis, Inguinal hernia, Microce... ORPHA:904
Syndromic Diarrhea
Hepatoblastoma, Hypothyroidism, Abnormality of iron homeostasis, Inguinal hernia, Ventricular sep... ORPHA:84064
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Leukopenia, Periportal fibrosis, Splenom... ORPHA:64743
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Fat malabsorption, Increased fecal bile acid, Steatorrhea OMIM:613291
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormality of retinal pigmentation, Bicuspi... ORPHA:397951
Progeroid Short Stature With Pigmented Nevi
High-frequency hearing impairment, Thoracic scoliosis, Chordee, Small for gestational age, Allerg... OMIM:176690
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Hyponatremia, Decreased circu... ORPHA:361
Immunodeficiency 82 With Systemic Inflammation
Vasculitis in the skin, T lymphocytopenia, Arthritis, Decreased proportion of naive T cells, Elev... OMIM:619381
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Abnormal size of pituitary gland, Hyponatremia, Recurrent hypogly... ORPHA:293978
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Left ventricular hypertrophy, Corneal opacity, Acce... ORPHA:31150
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Hyponatremia... OMIM:300200
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Short Syndrome
Lipodystrophy, Abnormal anterior chamber morphology, Insulin resistance, Hypoplasia of the iris, ... ORPHA:3163
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Failure to thrive in infancy, Atrial septal defect, Joint... ORPHA:477817
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepato... OMIM:603553
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Failure to thrive, Hyperactive renin-angiotensin system... OMIM:214700
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, EEG abnormality, Corneal opacity, Optic nerve hypoplasia, Optic disc hypo... ORPHA:137902
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, An... ORPHA:100924
Lateral Meningocele Syndrome
Low-set ears, Patent ductus arteriosus, Conductive hearing impairment, Sclerosis of skull base, P... OMIM:130720
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Corneal opacity, Atherosclerosis, Hemolyti... ORPHA:650
Refractory Celiac Disease
Malabsorption, Protein-losing enteropathy, Villous atrophy, Jejunitis, Weight loss ORPHA:398063
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Atrial septal defect, Microcornea, Astigmatism, Coarctation of aorta, Microcephaly,... OMIM:244450
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Ankle flexion contracture, Absen... OMIM:617519
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Ventricular septal defect, Pulmonic stenosis OMIM:615508
Zellweger Syndrome
EEG abnormality, Hepatic failure, Primary adrenal insufficiency, Posterior embryotoxon, Sensorine... ORPHA:912
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Cataract, Decreased liver function, Microcephaly, Failure to thrive, Cardiomyopathy... ORPHA:67048
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Corneal opacity, Retinal detachment, Osteoporosis, Increased susceptibi... ORPHA:2788
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Patent ductus arteriosus OMIM:300049
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Cataract, Increased bone density with cystic cha... OMIM:136300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypo... ORPHA:1067
Marfan Syndrome
Astigmatism, Retinal detachment, Premature osteoarthritis, Flexion contracture, Aortic root aneur... OMIM:154700
Kyphoscoliotic Ehlers-Danlos Syndrome
Shoulder dislocation, Osteopenia, Atypical scarring of skin, Low-set ears, Microcornea, Conductiv... ORPHA:536545
Diamond-Blackfan Anemia 11
Atresia of the external auditory canal, Neutropenia, Anemia, Radioulnar synostosis, Bicuspid aort... OMIM:614900
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Small for gestational age, Neutropenia, Hyperglycemia, Thrombocytopen... ORPHA:391673
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Hyperactive ren... OMIM:177735
Japanese Encephalitis
EEG abnormality, Dystonia, Opisthotonus, Tremor, Cerebral edema, Interictal epileptiform activity... ORPHA:79139
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hypokalemia, EEG abnormality, Diabetes insipidus, Abnormal rib morphology, Osteomala... ORPHA:534
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Wilson Disease
Glycosuria, Hepatic failure, Dystonia, Kayser-Fleischer ring, Tremor, Hepatomegaly, Osteoporosis,... OMIM:277900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Corneal opacity, Cataract, Retinal detachment, Microcephaly, Simplified... OMIM:152950
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Hepatosplenomegaly, Low-set ears, Cataract, Corneal opacity, Hepat... ORPHA:93399
Alg3-Cdg
Lipodystrophy, Hypoplasia of the corpus callosum, Dystonia, Osteopenia, Cataract, Abnormal cerebr... ORPHA:79321
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Diabetes insipidus, Optic atrophy, Sensorineural hea... ORPHA:96180
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Osteopenia, Delayed puberty, Increased hepatic glycogen content, Os... ORPHA:369
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Low-set ears, Omphalocele, Posteriorly rotated ears, Bicuspid aortic valve, Campt... OMIM:618529
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Cerebral atrophy, Atrial septal defect, Methylmalonic acidemia, Coarctation ... OMIM:614857
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Short ribs, Corneal opacity, Narrow chest, Coarse metaphyseal trabecula... OMIM:618961
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Abnormal circulating aldosterone, Failure to thrive in infancy, Increased circulati... ORPHA:171876
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, EEG abnormality, Developmental cataract, Primary adrenal insufficiency, Tracheoma... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, EEG abnormality, Developmental cataract, Primary adrenal insufficiency, Tracheoma... ORPHA:363958
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatosplenomegaly, Insulin resistance, Primary amenorrhea, Hypercholesterolemia, ... OMIM:612526
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Osteopenia, Cataract, Corneal opacity, Optic disc pallor, Cereb... ORPHA:309288
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Osteopenia, Low-set ears, Hernia, Corneal opacity, Protruding ear OMIM:616603
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Anemia, Hepatic necrosis, Hyperbilirubinemia, Liver abscess, Thrombocy... ORPHA:88673
Wilson Disease
Hepatic steatosis, Cirrhosis, Arthritis, Kayser-Fleischer ring, Pathologic fracture, Splenomegaly... ORPHA:905
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Hyponatremia, Hyperkalemia, Adrenal hypoplasia OMIM:240200
Microvillus Inclusion Disease
Abnormality of small intestinal villus morphology, Villous atrophy ORPHA:2290
Gm1 Gangliosidosis
Cherry red spot of the macula, Dystonia, Inguinal hernia, Ventricular septal defect, Coarse metap... ORPHA:354
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Failure to thrive, Hyperactive renin-angiotensin system, Pseudohypoal... OMIM:264350
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Sensorineural hearing impairment, Failure to thrive, Hy... OMIM:613090
Bare Lymphocyte Syndrome, Type Ii
Colitis, Failure to thrive, Malabsorption, Villous atrophy OMIM:209920
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Small for gestational age, Abnormality of thyroid physiology, Abnormal proportion... ORPHA:1830
Congenital Sialidosis Type 2
Cherry red spot of the macula, Developmental cataract, Hepatosplenomegaly, Low-set ears, Hypoplas... ORPHA:93400
Lysosomal Acid Lipase Deficiency
Hepatic failure, Primary adrenal insufficiency, Fatal liver failure in infancy, Coronary artery a... ORPHA:275761
Whipple Disease
Hypothyroidism, Hyponatremia, Insulin resistance, Erectile dysfunction, Splenomegaly, Hepatomegal... ORPHA:3452
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Cupped ear, Patent foramen ovale, Joint contracture of the 5th... OMIM:618914
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Hypoplasia of the corpus callosum, Retinal degeneration, Sensorineural hearing ... OMIM:619260
Cockayne Syndrome A
Irregular menstruation, Microcephaly, Pigmentary retinopathy, Retinal pigment epithelial mottling... OMIM:216400
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia, Decreased circulating cortisol level,... ORPHA:199296
Lissencephaly 8
Occipital encephalocele, Cataract, Microcephaly, Elevated circulating creatine kinase concentrati... OMIM:617255
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, Craniosynostosis, Osteopenia, Low-set ears, Developmental gl... ORPHA:2409
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Bilateral sensorineural hearing impairment, Male infertility, Reduced s... OMIM:611102
Pseudo-Torch Syndrome 1
Cerebral calcification, Dystonia, Patent foramen ovale, Patent ductus arteriosus, Low-set ears, C... OMIM:251290
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism, Craniosynostosis, Osteopenia, Abnormal helix morphology, Hypoplasia of the corpus... ORPHA:453499
Fish-Eye Disease
Corneal opacity, Splenomegaly, Hepatomegaly, Atherosclerosis, Decreased HDL cholesterol concentra... ORPHA:79292
Intellectual Developmental Disorder, X-Linked 106
Microcephaly, Bicuspid aortic valve, Low-set ears OMIM:300997
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Abnormality of retinal pigmentation, Cataract, Condu... ORPHA:791
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Osteopenia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increas... OMIM:601678
Central Diabetes Insipidus
Failure to thrive, Hyponatremia, Weight loss, Diabetes insipidus ORPHA:178029
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum, Low-set ears, Cataract, Decreased skull ossification, Abnormal rib m... ORPHA:93267
Aromatase Deficiency
Hyperlipidemia, Insulin resistance, Osteopenia, Primary amenorrhea, Obesity, Osteoporosis, Eunuch... ORPHA:91
Gaucher Disease
Pancytopenia, Cherry red spot of the macula, Abnormal pericardium morphology, Anemia, Hepatitis, ... ORPHA:355
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hypocalcemia, Patchy osteosclerosis, Low-set, posteriorly rotated e... ORPHA:2323
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Atresia of the external au... OMIM:236670
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Functional abnorma... ORPHA:90362
Phace Syndrome
Tetralogy of Fallot, Hypothyroidism, Heterochromia iridis, Agenesis of corpus callosum, Aortic ro... ORPHA:42775
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
EEG abnormality, Dystonia, Microcephaly, Coloboma, Hyperbilirubinemia, Ventricular septal defect,... OMIM:619475
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Advanced ossification of carpal bones, Carpal synostosis, Decreased body weight, Fle... OMIM:271640
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased circulating aldosterone ... OMIM:203400
Farber Disease
Cherry red spot of the macula, Hepatic failure, Hepatosplenomegaly, Flexion contracture, Abnormal... ORPHA:333
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Chromosome 1P36 Deletion Syndrome, Distal
Hypothyroidism, 11 pairs of ribs, Congenital hypothyroidism, Bifid ribs, Microcephaly, Ventricula... OMIM:607872
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Hypoplasia of the corpus callosum, Dystonia, Sensorineural hearing impairment, ... OMIM:617248
Cardiac Valvular Dysplasia, X-Linked
Joint stiffness, Short chordae tendineae of the mitral valve, Joint laxity, Short chordae tendine... OMIM:314400
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Uplifted earlobe, Epiphyseal stippling, Cataract, Failure to thrive, Type I diabete... ORPHA:251009
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment, Hyponatremia ORPHA:3225
Hartsfield Syndrome
Gonadotropin deficiency, Craniosynostosis, Diabetes insipidus, Low-set ears, Posteriorly rotated ... OMIM:615465
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Achilles tendon contracture, Hypothyroidism, EEG abnormality, ... ORPHA:456312
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Cataract, Sensorineural hearing impairment, Type II dia... ORPHA:225
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Microcephaly, Cerebral atrophy, Failure to thrive, Hyponatremia OMIM:618426
De Barsy Syndrome
Large earlobe, Lipodystrophy, Abnormal corpus callosum morphology, Osteopenia, Progressive microc... ORPHA:2962
Leber Congenital Amaurosis 1
Optic disc drusen, Sensorineural hearing impairment, Cataract, Hepatomegaly, Pigmentary retinopat... OMIM:204000
Otodental Syndrome
High-frequency sensorineural hearing impairment, Retinal coloboma, Microcornea, Cataract, Progres... ORPHA:2791
Flynn-Aird Syndrome
Cerebral calcification, EEG abnormality, Primary adrenal insufficiency, Joint stiffness, Cataract... ORPHA:2047
Multiple Sulfatase Deficiency
Joint stiffness, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural he... ORPHA:585
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Mosaic Trisomy 9
Supernumerary ribs, Abnormal heart valve morphology, Patent ductus arteriosus, Low-set ears, Endo... ORPHA:99776
Kleefstra Syndrome
Tetralogy of Fallot, Tracheomalacia, Agenesis of corpus callosum, Hernia, Obesity, Coarctation of... ORPHA:261494
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Microcephaly, Abnormal rib morphology, Pectus carinatum ORPHA:3268
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Cataract, Hypertrophic cardiomyopathy, Microcephaly, Failure to t... OMIM:617228
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Accessory spleen, Atrial septal defect, Aplasia of... OMIM:608978
Chronic Atrial And Intestinal Dysrhythmia
Failure to thrive, Decreased body weight, Bicuspid aortic valve, Pulmonic stenosis OMIM:616201
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Hypocalcemic seizures, Pseudohypoparathyroidism, Pituitary resistance to th... ORPHA:94089
Metatropic Dysplasia
Joint stiffness, Camptodactyly of finger, Abnormal enchondral ossification, Cataract, Abnormal ri... ORPHA:2635
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, Generalized osteoporosis, Decreased serum estradiol, Microcephaly, Premature o... ORPHA:2959
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Sensorineural hearing impairment, Failure to thrive, Hy... OMIM:602522
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Failure to thriv... OMIM:615237
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Congenital diaphragmatic her... ORPHA:2847
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Short ribs, Delayed vertebral ossification, Cat... ORPHA:93296
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, E... OMIM:603471
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Cataract, Reduced bone mineral density, Hypophosphatemia, Iris coloboma ORPHA:2611
Cardiac Diverticulum
Aplasia/Hypoplasia of the sternum, Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, ... ORPHA:1686
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Esophagitis, Du... OMIM:619079
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Developmental cataract, Decreased body weight, Cataract, Microceph... OMIM:619420
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Villous atrophy OMIM:619510
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Loeys-Dietz Syndrome 3
Uterine prolapse, Inguinal hernia, Ventricular hypertrophy, Left ventricular hypertrophy, Cystoce... OMIM:613795
Sitosterolemia 1
Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulating sitosterol concentratio... OMIM:210250
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Amenorrhea, Elevated... OMIM:604250
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Partial atrio... ORPHA:1330
X Small Rings
Primary amenorrhea, Aortic root aneurysm, Joint laxity, Osteoporosis, Mitral stenosis, Ventricula... ORPHA:96201
Legionnaires Disease
Cellulitis, Hyponatremia, Endocarditis, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Pancreati... ORPHA:549
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Cataract, Obesity, Osteoporosis, Hyp... OMIM:612462
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Aortic valve stenosis, Patent ductus arteriosus, Conotruncal def... ORPHA:2306
Galactosemia I
Hypergalactosemia, Cataract, Decreased liver function, Hepatomegaly, Increased level of galactito... OMIM:230400
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Sensorineural hearing impairment, Corneal dystrophy OMIM:217400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Pectus carinatum,... ORPHA:496790
Mucolipidosis Iii Gamma
Joint stiffness, Increased serum beta-hexosaminidase, Abnormal rib cage morphology, Pectus carina... OMIM:252605
Cockayne Syndrome B
Developmental cataract, Osteoporosis, Microcephaly, Pigmentary retinopathy, Opacification of the ... OMIM:133540
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Tangier Disease
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly, Coronary artery atherosclerosis, Athero... OMIM:205400
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Recurrent fractures, Hypophosphatemic rickets, Corneal opacity, Coarctation of aorta,... OMIM:163200
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Abnormal circulating hormone concentration, Male infertility OMIM:261550
Mucopolysaccharidosis Type 7
Joint stiffness, Epiphyseal stippling, Corneal opacity, Splenomegaly, Inguinal hernia, Hepatitis,... ORPHA:584
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothyroidism, Dystonia, Abnormality of the anterior pituitary, Hyperintensity of cerebral white... ORPHA:438213
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Porphyria Variegata
Abnormality of the liver, Hyponatremia, Abnormal autonomic nervous system physiology, Anemia, Ele... ORPHA:79473
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Thoracic kyphosis, Enamel hypoplasia, Opacification of the co... OMIM:270200
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hypothyroidism, Abnormal cornea morphology, Elevated circulating creatin... ORPHA:411634
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Osteopenia, Increased serum prostaglandin E2, Hypochloremia, Increased circulating r... OMIM:241200
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Corneal opacity, Acute leukemia ORPHA:281090
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Recurrent fractures, Cataract, Abnormal rib morphology, Low-set... ORPHA:2772
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyponatremia, Flexion contracture, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:682
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:618805
Cranioectodermal Dysplasia 1
Hepatic failure, Enamel hypoplasia, Short ribs, Joint laxity, Hypocalcemia, Sagittal craniosynost... OMIM:218330
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract, Decreased circulating ceruloplasmin concentration, Hearing impa... OMIM:614482
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Retinal detachment, Osteoporosis, Generalized joint laxity, Inguinal hernia, Thoracic scoliosis, ... ORPHA:1900
Lissencephaly 5
Occipital encephalocele, Abnormal cerebral white matter morphology, Cataract, Porencephalic cyst,... OMIM:615191
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Villous atrophy OMIM:304790
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Congenital hepatic fibrosis, Premature ovarian ins... ORPHA:3156
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Cach Syndrome
Cerebral atrophy, Hepatosplenomegaly, Flexion contracture, Primary amenorrhea, Cataract, T2 hypoi... ORPHA:135
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Hereditary Coproporphyria
Hyponatremia, Atypical scarring of skin, Hepatocellular carcinoma, Long hairs growing from helix ... ORPHA:79273
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Focal Dermal Hypoplasia
Hernia, Inguinal hernia, Spina bifida, Ventricular septal defect, Coarse metaphyseal trabeculariz... ORPHA:2092
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Cataract, Cerebral white matter atrophy, Hepatomegaly, Microcephaly, Elevated ... ORPHA:369840
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreas... ORPHA:1643
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Agenesis of corpus callosum, Sensorineural hearing impairm... OMIM:109120
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal helix morphology, Cataract, Optic nerve dysplasia, Intrahepatic biliary dysgenesis, Jaun... OMIM:214110