Gene Summary

Name:
glutathione S-transferase, alpha 4
Synonyms:
mGsta4,  GST 5.7

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased startle reflex Gsta4tm1b(EUCOMM)Hmgu HOM   Early adult 9.51×10-05
abnormal vitreous body morphology Gsta4tm1b(EUCOMM)Hmgu HOM Early adult 3.97×10-05
abnormal lens morphology Gsta4tm1b(EUCOMM)Hmgu HOM Early adult 9.19×10-05
increased red blood cell distribution width Gsta4tm1b(EUCOMM)Hmgu HOM Early adult 5.04×10-08
shortened PQ interval Gsta4tm1b(EUCOMM)Hmgu HOM   Early adult 4.44×10-05
abnormal retina morphology Gsta4tm1b(EUCOMM)Hmgu HOM Early adult 4.94×10-05
abnormal coat/hair pigmentation Gsta4tm1b(EUCOMM)Hmgu HOM Early adult 5.04×10-06
decreased exploration in new environment Gsta4tm1b(EUCOMM)Hmgu HOM Early adult 1.94×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Gsta4 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 Gsta4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 53
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections OMIM:617585
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Monocyte and dendritic cell deficiency, autosomal recessive
Recurrent infections OMIM:614894
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency 35
Recurrent respiratory infections, Recurrent fungal infections, Recurrent viral infections, Recurr... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Tuftsin Deficiency
Recurrent infections OMIM:191150
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Agammaglobulinemia 3, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Recurre... OMIM:613501
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Immunodeficiency 32A
Recurrent infections OMIM:614893
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Frequent Giardia lamblia infestation, Rec... OMIM:300310
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Recurrent ba... OMIM:605258
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Abnormal retinal morphology, Sparse lateral ... ORPHA:170
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Insulinomatosis And Diabetes Mellitus
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Disseminated nontuberculous mycobacterial infection, Recurrent mycobacterial infections, Recurren... ORPHA:319552
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of... OMIM:615631
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia OMIM:606574
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of the fundus, Hypopigmentation of hair, Iris hypo... OMIM:126070
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections OMIM:617014
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... ORPHA:766
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anisocytosis, Retinal atrophy, Anemia, Photoreceptor layer lo... OMIM:616959
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Developmental cataract, Aggressive behavior OMIM:618808
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hemophagocytosis, Hypopigmentatio... OMIM:607624
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Abnormality of the optic nerve, Hypopigmenta... ORPHA:33445
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:613493
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Cognitive impairment, Hypopigmented skin patches, Vitiligo, Abnormal e... ORPHA:3437
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... OMIM:619165
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus OMIM:606952
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- an... OMIM:601706
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Dementia, Retinal detachment, Retinal dysplasia... OMIM:310600
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Urocanase Deficiency
Fair hair, Blue irides, Aggressive behavior, Tremor OMIM:276880
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Aplasia/Hypop... ORPHA:1067
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Retinitis Pigmentosa 84
Cataract, Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Macular dystrop... ORPHA:75376
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus, Hypopigmentati... OMIM:203200
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Retinal detachment, Astigmatism, Lens subluxation, Mosaic ... OMIM:309300
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Monilethrix
Patchy alopecia, Abnormality of the nail, Cognitive impairment, Brittle hair, Abnormal eyelash mo... ORPHA:573
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Hypopigmentation of hair, Partial albinism ORPHA:90023
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:613502
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis OMIM:612692
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic lymphocytic men... OMIM:209920
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Albinism,... ORPHA:79435
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Decreased mean cor... OMIM:616860
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Splenomegaly, Mening... OMIM:240500
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Recurrent viral infections, Recurrent bacterial infections, Spleno... OMIM:603554
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, R... ORPHA:275
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Splenomegaly, Recurr... OMIM:607594
Oculocutaneous Albinism Type 3
White eyebrow, Optic nerve misrouting, Hypopigmentation of the skin, Blue irides, White eyelashes... ORPHA:79433
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal retinal morphology ORPHA:2786
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Retinal detachment, Corneal guttata, Retinal dots... OMIM:193230
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Melena, Abnormal erythrocyte morphology,... ORPHA:98870
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Classic Phenylketonuria
Hypopigmentation of hair, Memory impairment, Self-injurious behavior, Hypopigmentation of the ski... ORPHA:79254
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, High-output congestive heart failure, Arrhythmia, Dec... ORPHA:231226
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hemolytic anemia, Stomatocyto... ORPHA:71275
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, Severe infection, Chronic oral ... ORPHA:83471
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Buph... ORPHA:91495
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormal macular morphology, ... ORPHA:897
Adult Idiopathic Neutropenia
Recurrent infections, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fu... ORPHA:2688
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Whim Syndrome 1
Recurrent upper respiratory tract infections, Recurrent bacterial infections OMIM:193670
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Subretinal fluid, Rhegmatogenous retinal ... ORPHA:891
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... OMIM:300908
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Optic nerve misrouting, Abnormal morphology of the choroi... ORPHA:352731
Oculocutaneous Albinism Type 2
White eyebrow, Macular hypopigmentation, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... ORPHA:79432
Anterior Segment Dysgenesis 8
Uveal ectropion, Persistent pupillary membrane, Hypoplasia of the iris, Iridodonesis, Cataract, O... OMIM:617319
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent viral infections, Recurrent bacterial infe... OMIM:243700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Eosinophilia, Lymphadenitis, Hepatosplenomegaly, Recurrent v... ORPHA:911
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abnormal atriovent... ORPHA:85451
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Recurrent viral infections, Decreased circulating bet... ORPHA:572
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Exudative Vitreoretinopathy 1
Subcapsular cataract, Peripheral retinal avascularization, Exudative vitreoretinopathy, Retinal e... OMIM:133780
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningitis, Recurrent Haemophilus influenzae infections, Recurr... OMIM:610984
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of the optic nerve, Hypoplasia of the fovea, Abnormality of... ORPHA:79434
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypoplasia of the fovea, Iris coloboma, Hypopigmentation... ORPHA:55
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Severe recurrent varicella, Recurrent bacterial infections... ORPHA:276
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Congenital Sialidosis Type 2
Cherry red spot of the macula, Developmental cataract, Hepatosplenomegaly, Optic atrophy, Hypopla... ORPHA:93400
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Griscelli Syndrome Type 1
Premature graying of hair, Retinopathy, Partial albinism, White hair, Iris hypopigmentation ORPHA:79476
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Dystonia, Anisocytosis, Irritability, Chronic hemolytic anemia,... OMIM:618278
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, M... ORPHA:169090
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Cognitive impairment, Mucosal telangiectasia... ORPHA:100
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Stiff-Person Syndrome
Opisthotonus, Vitiligo, Anxiety, Anemia, Hypertension, Exaggerated startle response, Tachycardia,... OMIM:184850
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent bacterial inf... OMIM:613179
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Chediak-Higashi Syndrome
Hypopigmentation of hair, Macular hypoplasia, Leukopenia, Giant neutrophil granules, Hemophagocyt... OMIM:214500
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of the e... ORPHA:83461
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent fungal infections, Rec... OMIM:147060
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Spontaneous, recurrent epistaxi... OMIM:614072
Selective Igm Deficiency
Severe infection, Recurrent urinary tract infections, Recurrent herpes, Recurrent pneumonia, Recu... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233710
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Normochromic microcytic anemia, Congestive heart failure, Sudden cardiac ... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Infectious encephalitis, Recurrent bacterial infections, Meningitis, Ente... OMIM:307200
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent gram-negative bact... OMIM:116920
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurr... ORPHA:183675
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cognitive impairment ORPHA:1177
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233690
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hypopigmentation of hair, Happy demeanor, Iris hypopigmentation ORPHA:411515
Griscelli Syndrome Type 2
Premature graying of hair, Pancytopenia, Hypopigmentation of hair, Hemophagocytosis, Splenomegaly... ORPHA:79477
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Recurrent enterovira... OMIM:601495
Congenital Erythropoietic Porphyria
Corneal ulceration, Leukopenia, Hypopigmentation of the skin, Scarring alopecia of scalp, Anisocy... ORPHA:79277
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Recurrent bacterial infections, Splenomegaly, Sepsis, Abnormality of the lymp... OMIM:612840
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Hermansky-Pudlak Syndrome 11
Fair hair, Hypoplasia of the fovea, Albinism, Iris transillumination defect, Ocular albinism, Mel... OMIM:619172
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Cognitive impairment, Dystonia, Anxiety, Exaggerated startle respo... ORPHA:309246
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections OMIM:616005
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Abnormality of the optic nerve, Hypoplasia of the fovea, Hypopigmentati... ORPHA:79431
Tay-Sachs Disease
Cherry red spot of the macula, Psychomotor deterioration, Dementia, Apathy, Exaggerated startle r... OMIM:272800
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia, Congestive heart failure, Hypertrophic cardiomyop... ORPHA:70472
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, Astigmatism, Blue irides, White hair... OMIM:203100
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Leukocytosis, Memory impairment, Congestive heart failure, Cerebral hemorrh... ORPHA:90065
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Astigmatism, Ocular albinism, Iris hypopigm... ORPHA:999
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Iron deficiency anemia, Syncope, Prolon... ORPHA:90647
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent bacterial infections, Recurrent i... ORPHA:486
Loeffler Endocarditis
Eosinophilia, Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestiv... ORPHA:75566
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Arrhythmia, Splenomegaly, Neutropenia, Anemia, Prolonged QT... ORPHA:398124
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Lymphadenitis, Hepatosplenomegaly, Recurrent viral infections, Recurrent bacterial ... ORPHA:331206
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Recurrent viral infections, Recurrent bacterial infections, Severe varicella ... OMIM:606367
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Bone marrow hypocellularity OMIM:617243
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Anxiety, Cataract, Ventricular arrhythmia, Irritability, Prol... ORPHA:36913
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Brittle Cornea Syndrome
Corneal dystrophy, Corneal scarring, Keratoglobus, Retinal detachment, Decreased corneal thicknes... ORPHA:90354
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Hermansky-Pudlak Syndrome 1
Hematochezia, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Freckles in sun-e... OMIM:203300
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Atrial Septal Defect, Ostium Primum Type
Prolonged PR interval, Atrial flutter, Systolic heart murmur, Congestive heart failure, Abnormall... ORPHA:99106
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Anterior synechiae of the anterior chamber, Hypopigmented skin patches,... ORPHA:3214
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Ch├ędiak-Higashi Syndrome
Pancytopenia, Cognitive impairment, Abnormal leukocyte morphology, Anemia, Abnormality of neutrop... ORPHA:167
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Keratoconus, Red hair OMIM:229200
Rett Syndrome
Abnormal T-wave, Dystonia, Dementia, Motor deterioration, Prolonged QTc interval OMIM:312750
Friedreich Ataxia
Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Hypertrophic cardiomyopathy, Opt... OMIM:229300
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Cardiomyopathy OMIM:310200
Adult-Onset Still Disease
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, Generalized ... ORPHA:829
Mirage Syndrome
Hypoplastic spleen, Hyponatremia, Hyperkalemia, Recurrent bacterial infections, Recurrent urinary... OMIM:617053
Squalene Synthase Deficiency
Irritability, Optic nerve hypoplasia, Abnormality of hair pigmentation OMIM:618156
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:306400
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Gastrointestinal hemorrhage, Long eyelashes, Abnormality of the optic n... ORPHA:79430
Al Amyloidosis
Increased circulating troponin I concentration, Gastrointestinal hemorrhage, Arrhythmia, Jaw clau... ORPHA:85443
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Oculo-Palato-Cerebral Syndrome
Aplasia/Hypoplasia of the nails, Cataract, Retinal detachment, Remnants of the hyaloid vascular s... ORPHA:2714
Stiff Person Spectrum Disorder
Emotional lability, Anxiety, Exaggerated startle response, Agoraphobia ORPHA:3198
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Molluscum contagiosum, Recurrent bacterial infections OMIM:300291
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Hypotension, Athetosis, Limb dystonia, Emotional lability, Irri... OMIM:608643
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Athetosis, Anemia, Choroideremia, Ocular alb... ORPHA:2719
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Recurrent bacterial infections, Hypocalcemic seizures OMIM:241410
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Hepatosplenomegaly, Bone marrow hypocellularity ORPHA:210136
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Felty Syndrome
Recurrent pneumonia, Recurrent infections, Bone marrow hypocellularity, Splenomegaly, Recurrent r... ORPHA:47612
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Recurrent bacterial infections, Splenomegaly, Meningitis, ... OMIM:308230
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Recurrent bacterial infections OMIM:244460
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Abnormal sperm motility, Asplenia, Re... ORPHA:244
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Severe Epstein Barr virus infection, Recurrent mycoba... ORPHA:48435
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Hypop... OMIM:611584
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Chronic infection, Bone marrow hypocellularity, Abnor... ORPHA:86839
Aplastic Anemia
Bone marrow hypocellularity OMIM:609135
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Red hair OMIM:614613
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Carney Complex, Type 1
Congestive heart failure, Profuse pigmented skin lesions, Freckling, Multiple lentigines, Hirsuti... OMIM:160980
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Bone marrow hypocellularity OMIM:618674
Pgm3-Cdg
Eosinophilia, Recurrent pneumonia, Recurrent infections, Bone marrow hypocellularity, Recurrent v... ORPHA:443811
Vici Syndrome
Dilated cardiomyopathy, Hypopigmentation of hair, Developmental cataract, Congestive heart failur... OMIM:242840
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Splenomegaly, Lymphadenopathy, Meningitis ORPHA:36412
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Recurrent pneumonia, Recurrent viral infections, Recurrent bacterial infections, Sp... OMIM:102700
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Optic atrophy, Exaggerated startle response ORPHA:320406
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Re... OMIM:614643
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Bone marrow hypocellularity OMIM:618116
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Cataract, Retinal detachment, Retinal dysplasia, Pulmonic stenosis, Exagg... OMIM:253800
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Arrhythmia, Abnormal EKG, Prolonged QT interval, Optic atrophy ORPHA:480864
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Abnormal leukocyte morphology, Anemia, Sparse scalp ha... ORPHA:3322
Bone Marrow Failure Syndrome 1
Bone marrow hypocellularity OMIM:614675
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Molluscum contagiosum, Severe varicella zoster infect... OMIM:615816
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Testicular atrophy OMIM:613987
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Gm2-Gangliosidosis, Ab Variant
Apathy, Dementia, Dystonia, Exaggerated startle response OMIM:272750
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity OMIM:615715
Neurofibromatosis Type 2
Memory impairment, Abnormality of the optic nerve, Remnants of the hyaloid vascular system, Corti... ORPHA:637
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Dystonia, Arrhythmia, Thin eyebrow, Aggressive behavior, Emotional lability, Myd... ORPHA:2131
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Hepatosplenomegaly, Rec... OMIM:608233
Norrie Disease
Abnormal vitreous humor morphology, Hypoplasia of the iris, Sclerocornea, Self-injurious behavior... ORPHA:649
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Splenomegaly, Recurrent respiratory infections, Sepsis, Hypoplasi... OMIM:612541
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Happy demeanor, Hypopigmentation of the skin, Iris hypopigmentation, Tr... ORPHA:98794
African Trypanosomiasis
Second degree atrioventricular block, Optic neuritis, Hepatosplenomegaly, Iritis, Arrhythmia, Con... ORPHA:3385
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Cognitive impairment, Aplasia/Hypoplasia of the eyebrow, Slow-growing ha... ORPHA:238468
Acute Erythroid Leukemia
Bone marrow hypocellularity ORPHA:318
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Recurrent viral infections, Recurrent bacterial infections, Recurrent f... ORPHA:221139
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Happy demeanor, Iris hypopigmentation ORPHA:411511
Waardenburg Syndrome, Type 1
White eyebrow, Premature graying of hair, Heterochromia iridis, Thick eyebrow, Hypopigmentation o... OMIM:193500
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity OMIM:616435
Sickle Cell Anemia
Priapism, Recurrent bacterial infections, Splenomegaly OMIM:603903
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity OMIM:609054
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Abnormal EKG, Orthostatic syncope, Anemia, Syncope ORPHA:230
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormality of blood circulation, Heart murmur, Left ventricular outflo... ORPHA:860
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Infectious encephalitis, Splenomegaly, Lymphadenopathy... ORPHA:549
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Recurrent viral infections, Severe cytomegalovirus infection, Recurrent bacterial in... OMIM:619573
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Recurrent respiratory infections, Splenomegaly, Bone marrow hypocellularity ORPHA:3226
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Hepatosplenomegaly, Progressive psychomot... OMIM:268800
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Cognitive impairment ORPHA:94125
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Bone marrow hypocellularity, Splenomegaly, Recurrent respiratory infections,... OMIM:617303
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity ORPHA:98827
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Neuroocular Syndrome
Small nail, Brittle hair, Long eyelashes, Hypoplasia of the fovea, Anxiety, Thick eyebrow, Microc... OMIM:619539
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypercholesterolemia, Intraalve... ORPHA:470
Immunodeficiency 47
Recurrent infections, Accessory spleen, Hypercholesterolemia, Recurrent bacterial infections, Spl... OMIM:300972
Shwachman-Diamond Syndrome
Increased serum bile acid concentration, Bone marrow hypocellularity, Recurrent viral infections,... ORPHA:811
Griscelli Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Abnormal circulating lipid concentration ORPHA:381
Dpagt1-Cdg
Developmental cataract, Astigmatism, Head-banging, Emotional blunting, Aggressive behavior, Diffu... ORPHA:86309
Chromomycosis
Recurrent bacterial infections ORPHA:182
Whim Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Recurrent bacte... ORPHA:51636
Classic Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Tay-Sachs Disease
Cherry red spot of the macula, Dystonia, Memory impairment, Anxiety, Laryngeal dystonia, Exaggera... ORPHA:845
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity OMIM:616871
Scorpion Envenomation
Increased circulating troponin I concentration, Premature ventricular contraction, Arrhythmia, Co... ORPHA:466677
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Splenomegaly OMIM:248500
Duane Retraction Syndrome
Central heterochromia, Chorioretinal coloboma, Hypopigmented skin patches, Microcornea, Blepharos... ORPHA:233
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Tremor, Ventricular... ORPHA:90068
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis ORPHA:231625
Idiopathic Aplastic Anemia
Recurrent infections, Bone marrow hypocellularity ORPHA:88
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Bone marrow hypocellularity OMIM:614378
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity OMIM:619041
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Bone marrow hypocellularity OMIM:614743
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Aortic regurgitation, Thrombocytosis, Spleno... ORPHA:84064
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia OMIM:232220
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Long eyelashes OMIM:617301
Fanconi Anemia, Complementation Group D1
Bone marrow hypocellularity OMIM:605724
Acquired Idiopathic Sideroblastic Anemia
Chronic infection, Splenomegaly, Bone marrow hypocellularity ORPHA:75564
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Recurrent bacterial infections, Recurrent tonsillitis, Meningitis, R... ORPHA:2968
Dextrocardia
T-wave inversion, Abnormal EKG, Abnormality of the spleen ORPHA:1666
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response, Optic atrophy, Hirsutism OMIM:617527
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Abnormal left ventricular function, Congestive heart failure, Pulmonary embolism... ORPHA:70591
Refractory Anemia
Bone marrow hypocellularity ORPHA:98826
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Cataract, Sparse eyebrow, Fine hair, Sparse hair ORPHA:444072
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block ORPHA:268
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Hepatosplenomegaly, Cardiomyopathy, Exaggerated startle response, ... ORPHA:79255
Bone Marrow Failure Syndrome 6
Recurrent sinusitis, Bone marrow hypocellularity OMIM:618849
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Prominent U wave OMIM:170390
Isovaleric Acidemia
Bone marrow hypocellularity OMIM:243500
Friedreich Ataxia And Congenital Glaucoma
Congestive heart failure, Developmental glaucoma, Abnormal echocardiogram, Abnormal EKG, Hypertro... OMIM:229310
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Mediastinal lymphadenopathy, Bone marrow hypocellularity OMIM:614742
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair, Cataract ORPHA:96169
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Hyperlipidemia, Hypercholesterolemia, Menorrhagia, Recurrent bacterial in... ORPHA:79259
Cardiac Diverticulum
Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Premature ventricular contraction,... ORPHA:1686
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Plaa-Associated Neurodevelopmental Disorder
Hirsutism, Dystonia, Optic atrophy, Exaggerated startle response ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Anxiety, Dystonia, Exaggerated startle response ORPHA:438216
Woodhouse-Sakati Syndrome
Abnormal T-wave, Dystonia, Fine hair, Alopecia, Sparse hair OMIM:241080
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity OMIM:166600
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Skin-picking, Chorioretinal hypopigmentation ORPHA:398079
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Absence Of The Pulmonary Artery
Atrial flutter, Reduced ejection fraction, Systolic heart murmur, Congestive heart failure, Abnor... ORPHA:980
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Palpitations, Iron deficiency a... ORPHA:358
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity OMIM:614900
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Cognitive impairment, Hypopigmentation of the skin, Chorioretinal hypop... ORPHA:398069
Amed Syndrome, Digenic
Bone marrow hypocellularity OMIM:619151
Prader-Willi Syndrome
Hypopigmentation of hair, Self-injurious behavior, Hypopigmentation of the skin, Frontal upsweep ... OMIM:176270
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Hyperlipidemia, Bone marrow hypocellularity ORPHA:1830
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Hypopigmentation of hair, Anxiety, Hypopigmentation of the skin, Hyperpigmentatio... ORPHA:177907
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Recurrent infections, Hepatosplenomegaly, Bone marrow hypocellularity, Sp... OMIM:615688
Cystinosis, Nephropathic
Retinopathy, Hypopigmentation of hair, Hypopigmentation of the skin, Splenomegaly, Corneal crysta... OMIM:219800
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Cognitive i... ORPHA:273
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigment... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigment... ORPHA:98793
Degcags Syndrome
Pancytopenia, Iron deficiency anemia, Anemia, Hypertrichosis, Leukopenia, Congenital hypoplastic ... OMIM:619488
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigment... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigment... ORPHA:177901
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Bone marrow hypocellularity, Recurrent respiratory infections, Recurrent gast... ORPHA:505248
Woodhouse-Sakati Syndrome
Abnormal T-wave, Dystonia, Aplasia/Hypoplasia of the eyebrow, Mental deterioration, Alopecia ORPHA:3464
Microphthalmia, Syndromic 2
Developmental cataract, Thick eyebrow, Microcornea, Retinal detachment, Remnants of the hyaloid v... OMIM:300166
Prader-Willi-Like Syndrome
Hypopigmentation of hair, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigment... ORPHA:398073
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity OMIM:231095
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Prolonged QT interval, ... ORPHA:466650
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Bone marrow hypocellularity, Se... ORPHA:2442
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Dyskeratosis Congenita, Autosomal Recessive 3
Bone marrow hypocellularity OMIM:613988
Bone Marrow Failure Syndrome 3
Recurrent infections, Bone marrow hypocellularity OMIM:617052
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity OMIM:609053
Mccune-Albright Syndrome
Hypophosphatemia, Irregular menstruation, Bone marrow hypocellularity, Decreased fertility ORPHA:562
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity OMIM:615190
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Abnormal EKG, Congestive heart f... OMIM:601992
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Acute Panmyelosis With Myelofibrosis
Splenomegaly, Bone marrow hypocellularity ORPHA:86843
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity OMIM:615272
Smith-Lemli-Opitz Syndrome