Gene: Atox1 MGI:1333855

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

antioxidant 1 copper chaperone

Synonyms:

ATX1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Atox1 mutations

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

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

Human diseases associated with Atox1 (0 diseases)
Human diseases predicted to be associated with Atox1 (954 diseases)

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

The table below shows human diseases predicted to be associated to Atox1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Menkes Disease	Hypopigmentation of the skin, Seizure, Epileptic spasm, Intrauterine growth retardation, Intracra...	OMIM:309400
Huppke-Brendel Syndrome	Seizure, Inability to walk, Death in childhood, Decreased circulating ceruloplasmin concentration...	OMIM:614482
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Fever, Seizure, Melanin pigment aggregation in ha...	OMIM:607624
Familial Benign Copper Deficiency	Short stature, Decreased circulating copper concentration, Seizure, Aplasia/Hypoplasia of the fovea	ORPHA:1551
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Intrauterine growth retardation, Redundant skin, Congestive heart failure	OMIM:301021
Congenital Disorder Of Glycosylation, Type Iiq	Generalized tonic seizure, Decreased circulating ceruloplasmin concentration, Elevated circulatin...	OMIM:617395
Cog2-Cdg	Generalized tonic seizure, Decreased circulating ceruloplasmin concentration, Decreased circulati...	ORPHA:435934
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Shor...	ORPHA:241
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Temperature instability, Abnormal circulating cerulopl...	OMIM:620306
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Seizure, Melanin pigment aggregation in hair shaf...	OMIM:214450
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Spontaneous Periodic Hypothermia	Seizure, Pallor, Hypothermia, Arrhythmia, Gait disturbance, Ataxia	ORPHA:29822
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Increased circul...	ORPHA:79230
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated circulating aspartate aminotransferase concentration, Intrauterine growth retardation, H...	OMIM:245400
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor	ORPHA:209981
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:242150
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Abnormal bleeding, H...	OMIM:231100
Coenzyme Q10 Deficiency, Primary, 5	Seizure, Intrauterine growth retardation, Hypothermia, Hyperalaninemia, Bradycardia	OMIM:614654
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Hypothermia, Lethargy, Bradycardia, Prolonged neonatal jaundice	ORPHA:95717
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Seizure, Premature graying of hair, Generalized hyperpigmentation, ...	ORPHA:33445
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly, Hyperpigmentation ...	ORPHA:75563
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration, Steppage gait	ORPHA:521411
N-Acetylglutamate Synthase Deficiency	Seizure, Reduced hepatic N-acetylglutamate synthase activity, Hyperammonemia, Hypothermia, Hyperg...	OMIM:237310
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Meningococcal Meningitis	Hypotension, Fever, Seizure, Shock, Petechiae, Hypothermia, Lethargy, Elevated circulating C-reac...	ORPHA:33475
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Timothy Syndrome	Atrioventricular block, Seizure, Hypocalcemia, Hypothermia, Pulmonary arterial hypertension, Vent...	OMIM:601005
Gemignani Syndrome	Short stature, Delayed puberty, Hypopigmented skin patches, Ataxia	ORPHA:2074
Phenylketonuria	Hypopigmentation of the skin, Hyperphenylalaninemia, Seizure, Ataxia	ORPHA:716
Granulomatous Slack Skin	Redundant skin, Erythema, Cutis laxa, Hypercalcemia	ORPHA:33111
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia	OMIM:615026
Developmental And Epileptic Encephalopathy 78	Inability to walk, Hypothermia, Status epilepticus, Seizure	OMIM:618557
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Generalized myoclonic seizure, Hypothermia, Death in infancy, Myoclonic spasms, Bradycardia, Mult...	OMIM:614498
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Seizure	OMIM:121270
Periodontal Ehlers-Danlos Syndrome	Short stature, Hypermelanotic macule, Hyperextensible skin	ORPHA:75392
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Gait disturbance, Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Hypopigmentation of the skin, Seizure, Melanin pigment aggregation in hair shaf...	OMIM:256710
Primary Erythromelalgia	Vasculitis, Hypothermia, Erythema	ORPHA:90026
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Seizure, Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Bilateral ...	ORPHA:457351
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus, Hypothermia, Death in infancy, Arrhythmia, Cardiac arrest, Growth delay	ORPHA:168593
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Hypothermia, Seizure	OMIM:610006
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Redundant skin, Cutis laxa, Abnormal bleeding	ORPHA:91135
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Cutis laxa, Redundant skin, Increased number of skin folds	ORPHA:436274
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Elevated circulating h...	OMIM:251880
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Pallor, Short stature, Hypopigmentation of hair	ORPHA:2786
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Fev...	ORPHA:20
Griscelli Syndrome Type 2	Iris hypopigmentation, Fever, Seizure, Premature graying of hair, Partial albinism, Hyperlipidemi...	ORPHA:79477
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin, Athetosis, Growth delay	OMIM:257800
Dihydropyrimidine Dehydrogenase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Seizure, Lethargy, Microphthalmia, Growth delay	OMIM:274270
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Sepsis In Premature Infants	Hypotension, Temperature instability, Abnormal bleeding, Fever, Decreased liver function, Seizure...	ORPHA:90051
Phenylketonuria	Fair hair, Seizure, Dry skin, Maternal hyperphenylalaninemia, Reduced phenylalanine hydroxylase l...	OMIM:261600
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Mottled pigmentation, Dry skin, Hypothermia, Bradycardia, Prolonged neonatal jaundice	ORPHA:226313
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Fair hair, Seizure, Congestive heart failure, Splenomegaly, Death i...	OMIM:269920
Beta-Thalassemia	Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Splenomegaly, Abnorma...	ORPHA:848
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Hypothermia, Lethargy, Abnormal circulating thyroglobulin concentrat...	ORPHA:95716
Congenital Disorder Of Glycosylation, Type Iq	Elevated circulating hepatic transaminase concentration, Dry skin, Cutis laxa, Abnormality of ski...	OMIM:612379
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypoornithinemia, Seizure, Intrauterine growth retardation, Hyperammonemia, Hyperextensible skin,...	OMIM:219150
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Intrauterine growth retardation, Redundant neck skin, Neonatal death, Hyperprolin...	OMIM:619003
Fibrinolytic Defect	Hyperextensible skin, Spontaneous hematomas	OMIM:134900
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Myoclonic seizure, Elevated circulatin...	OMIM:618329
Alg8-Cdg	Elevated circulating hepatic transaminase concentration, Seizure, Premature skin wrinkling, Intra...	ORPHA:79325
Occipital Horn Syndrome	Bruising susceptibility, Seizure, Redundant skin, Hyperextensible skin, Orthostatic hypotension, ...	OMIM:304150
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Hyperp...	ORPHA:94093
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Griscelli Syndrome Type 1	Iris hypopigmentation, Seizure, Premature graying of hair, Partial albinism, White hair, Hyperlip...	ORPHA:79476
Ehlers-Danlos Syndrome, Classic Type, 2	Soft, doughy skin, Bruising susceptibility, Hyperextensible skin, Soft skin	OMIM:130010
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Rafiq Syndrome	Short stature, Cutis laxa, Seizure, Ataxia	OMIM:614202
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert...	OMIM:616501
Gracile Syndrome	Increased circulating iron concentration, Increased circulating ferritin concentration, Cholestas...	OMIM:603358
Orthostatic Hypotension 1	Seizure, Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen, Orthostatic hyp...	OMIM:223360
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Dilated cardiomyopathy, Pigmentary retinopathy, Fever, Seizure, Hypertrophic car...	ORPHA:255210
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Hypotension, Abnormal bleeding, Hepatitis, Cardiomyopathy, Feve...	ORPHA:292
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Hyperextensible skin, Cutis laxa, Abnormality of skin pigmentation, Short ...	ORPHA:75496
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Mitral regurgitation, Premature skin wrinkling	OMIM:614434
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hyperextensible skin, Seizure	OMIM:615937
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Maternal Uniparental Disomy Of Chromosome X	Hepatic failure, Hypopigmentation of the skin, Seizure, Congestive heart failure, Short stature	ORPHA:261519
Marburg Hemorrhagic Fever	Excessive bleeding after a venipuncture, Hypothermia, Jaundice, Tachycardia, Shock, Elevated circ...	ORPHA:99826
Drug-Induced Localized Lipodystrophy	Erythema, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hepatic failure, Portal fibrosis, Seizure, Acute hepatic failure, ...	OMIM:277900
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Seizure, Subretinal pigment epithelium hemorrhage, Abnormal circulating apolipoprotein concentrat...	ORPHA:357074
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Short stature, Hypopigmentation of hair, Partial albinism	ORPHA:90023
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pigmentary retinopathy, Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concent...	ORPHA:79282
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumi...	OMIM:619165
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Increased circulating ferritin concentration, Congestive heart failure, Portal hy...	ORPHA:465508
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi...	ORPHA:446
Hermansky-Pudlak Syndrome 3	Gingival bleeding, Hypopigmentation of the skin, Abnormal bleeding, Bruising susceptibility, Spon...	OMIM:614072
Classic Phenylketonuria	Hypopigmentation of the skin, Seizure, Lack of skin elasticity, Hyperphenylalaninemia, Hypopigmen...	ORPHA:79254
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Cutis laxa, Abnormal bleeding, Prolonged prothrombin time	OMIM:610842
Porphyria Variegata	Elevated circulating hepatic transaminase concentration, Hypopigmentation of the skin, Seizure, A...	ORPHA:79473
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Arrhythmia, Cirr...	OMIM:606069
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Infantile spasms, Growth delay, Ataxia	OMIM:278780
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Nanophthalmos 2	Microphthalmia	OMIM:609549
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr...	OMIM:617093
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Aldh18A1-Related De Barsy Syndrome	Hyperextensible skin	ORPHA:35664
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Increased circulating iron concentration, Elevated circulating hepatic transam...	ORPHA:98870
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Heat intolerance,...	ORPHA:98795
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:89838
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Broad-based gait, Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Eleva...	OMIM:618805
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypoplasia of the fovea, Blue irides...	OMIM:203200
Cofs Syndrome	Seizure, Intrauterine growth retardation, Abnormality of retinal pigmentation, Death in infancy, ...	ORPHA:1466
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Man1B1-Cdg	Broad-based gait, Cutis laxa, Multiple cafe-au-lait spots, Seizure	ORPHA:397941
Genetic Transient Congenital Hypothyroidism	Mottled pigmentation, Hypothermia, Lethargy, Prolonged neonatal jaundice, Increased circulating t...	ORPHA:226316
Elastosis Perforans Serpiginosa	Cutis laxa	ORPHA:79148
Renal Hypodysplasia/Aplasia 2	Redundant skin	OMIM:615721
Acute Transverse Myelitis	Fever, Subarachnoid hemorrhage, Gait disturbance, Abnormality of temperature regulation, Orthosta...	ORPHA:139417
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Dry skin, Freckles in sun-exposed areas, Telangiectasia, Hyperpigme...	ORPHA:90342
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Cholestasis, Delayed puberty, Hypoglycemic seizures, Red hair, Grow...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Cholestasis, Delayed puberty, Hypoglycemic seizures, Red hair, Grow...	ORPHA:71526
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Seizu...	ORPHA:541423
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Ataxia, Hypopigme...	ORPHA:411515
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Cu...	OMIM:314400
Ethylene Glycol Poisoning	Hypotension, Seizure, Congestive heart failure, Shock, Myoclonus, Hypocalcemia, Hypothermia, Prol...	ORPHA:31826
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Dry skin, Hypothermia, Abnormal circulating thyroglobulin concentrat...	ORPHA:90674
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation	OMIM:113750
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Seizure, Inability to walk, Hypothermia, Abnormality of temperature regulation, Short stat...	OMIM:618493
Ogden Syndrome	Shuffling gait, Cardiogenic shock, Postnatal growth retardation, Arrhythmia, Lethargy, Cutis laxa	ORPHA:276432
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Hypopigmentation of the skin	OMIM:617294
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mottled pigmentation, Hypermelanotic macule, Hypomelanotic macule, Spotty hypopigmentation, Retic...	ORPHA:79397
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Hematochezia, Epistaxis, Hypopigmentation of the skin, Bruising susceptibility...	OMIM:203300
Wrinkly Skin Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Excessive wrinkled skin, Cutis lax...	ORPHA:2834
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hypothermia, Elevat...	OMIM:618775
Developmental And Epileptic Encephalopathy 1	Growth delay, Infantile spasms, Focal-onset seizure, Tonic seizure, Microphthalmia, Focal motor s...	OMIM:308350
Elastoderma	Cutis laxa, Premature skin wrinkling	ORPHA:228240
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Unsteady gait, Cutis laxa, Scaling skin	ORPHA:2269
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Hepatitis, Abnormal circulating lipid concentration, Sei...	ORPHA:381
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Seizure, Congestive heart failure, Premature ...	ORPHA:363705
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Dilated cardiomyopathy, Skin ulcer, Recurrent ...	ORPHA:231226
Acute Radiation Syndrome	Hypotension, Hypopigmentation of the skin, Abnormal bleeding, Skin ulcer, Seizure, Fever, Telangi...	ORPHA:454831
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Disproportionate short stature, Seizure, Congestive heart failu...	OMIM:616482
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Short stature, Hypopigmentation of the skin	OMIM:610798
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Seizure, Intrauterine growth retardation...	ORPHA:858
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Elevated transferrin saturation, Increased circulating ferritin concentration	OMIM:205950
Cutis Laxa, Autosomal Recessive, Type Iie	Short stature, Cutis laxa	OMIM:619451
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic s...	OMIM:615980
Idiopathic Localized Lipodystrophy	Hyperpigmentation of the skin, Erythema, Hypopigmentation of the skin, Scaling skin	ORPHA:90158
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation, Macular telangi...	ORPHA:69125
Ehlers-Danlos Syndrome, Periodontal Type, 2	Gingival bleeding, Bruising susceptibility, Hyperextensible skin, Pretibial hyperpigmentation	OMIM:617174
Combined Oxidative Phosphorylation Deficiency 2	Lethargy, Elevated circulating hepatic transaminase concentration, Redundant neck skin, Neonatal ...	OMIM:610498
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosple...	ORPHA:231222
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Hypothermia, Lethargy, Bradycardia, Prolonged neonatal jaundice, Inc...	ORPHA:90673
X-Linked Creatine Transporter Deficiency	Seizure, Redundant skin, Abnormal circulating creatine concentration, Ataxia, Short stature, Athe...	ORPHA:52503
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Redundant skin	ORPHA:1779
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perioral erythema, Dry skin, Splenomegaly, Low alkaline phosphatase, Lethargy, Decreased serum zi...	OMIM:201100
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Abnormal bleeding, Petechiae, Splenomegaly, Hyperpigmentation of th...	ORPHA:158029
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Hyperextensible skin	OMIM:619764
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Sp...	ORPHA:79399
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Seizure, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia, S...	OMIM:251270
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Seizure, Hypertrophic cardiomyopathy, Ab...	ORPHA:17
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microphthalmia	ORPHA:2432
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Short stature, Intrauterine growth retardation, Seizure, Microphthalmia	OMIM:616171
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Arterial rupture, Bruising susceptibility, Hyperextensible skin, Elevated circulating creatine ki...	ORPHA:300179
Menkes Disease	Gastrointestinal hemorrhage, Spontaneous hematomas, Seizure, Dry skin, Intrauterine growth retard...	ORPHA:565
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Pallor, Splenomegaly, Elevated hepatic iron concent...	OMIM:615234
Chédiak-Higashi Syndrome	Gingival bleeding, Hepatosplenomegaly, Ataxia, Jaundice, Hypoproteinemia, Hypopigmentation of the...	ORPHA:167
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Premature skin wrinkling, Postnatal growth retardation, Intrauterine growth...	OMIM:616603
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides	OMIM:103500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Seizure, Death in infancy, Neonatal death, Microphthalmia, Hepatomegaly	OMIM:613730
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Dilated cardiomyopathy, Skin ulcer, Recurrent ...	ORPHA:231214
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia	OMIM:616570
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Temperature instability, Intermittent hypothermia, Myoclonus, Reduced circulating ar...	OMIM:608643
Al-Raqad Syndrome	Inability to walk, Hypopigmentation of the skin, Gait ataxia, Seizure	OMIM:616459
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Death...	ORPHA:53693
Macs Syndrome	Bruising susceptibility, Redundant skin, Hyperextensible skin, Cutis laxa, Short stature, Prolong...	OMIM:613075
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Nanophthalmos	Abnormality of retinal pigmentation, Microphthalmia	ORPHA:35612
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Bruising susceptibility, S...	OMIM:214500
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Focal Facial Dermal Dysplasia Type Iii	Multiple cafe-au-lait spots, Redundant skin, Hypopigmented skin patches	ORPHA:1807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Inability to walk, Elevated circulating creatine kinase concentration, Microphtha...	OMIM:613155
Cutis Laxa, Autosomal Recessive, Type Iia	Seizure, Intrauterine growth retardation, Redundant skin, Excessive wrinkled skin, Cutis laxa	OMIM:219200
Alg3-Cdg	Hypopigmentation of the skin, Cardiomyopathy, Decreased liver function, Seizure, Abnormal circula...	ORPHA:79321
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:613280
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Heat intolerance,...	ORPHA:411511
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Growth delay, Microphthalmia	ORPHA:2528
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Skin ulcer, Telangiectasia of the skin, Pulmonary arterial hypertensi...	ORPHA:220402
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Fever, Subcutaneous hemorrhage, Ab...	ORPHA:335
Prader-Willi Syndrome Due To Imprinting Mutation	Short stature, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
2Q24 Microdeletion Syndrome	Growth delay, Seizure, Microphthalmia	ORPHA:1617
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Short stature, Delayed puberty, Hypopigmented skin patches, Seizure	ORPHA:1825
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hypopigmentation of the skin, Seizure, Hepatic steatosis, Reduced cystathioni...	OMIM:236200
Thanatophoric Dysplasia	Redundant skin, Intrauterine growth retardation, Disproportionate short-limb short stature, Seizure	ORPHA:2655
Progeroid Syndrome, Petty Type	Short stature, Intrauterine growth retardation, Cutis laxa, Redundant skin	ORPHA:2963
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Growth delay, Hypothermia, Bradycardia	OMIM:608800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Slc35A2-Cdg	Elevated circulating hepatic transaminase concentration, Hypopigmentation of the skin, Seizure, I...	ORPHA:356961
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Multiple cafe-au-lait spots, Micro...	OMIM:609054
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Seizure, Congestive heart failure, Elevated circulating aspartate aminotr...	OMIM:610198
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Seizure, Tricuspid regurgitation, Elevated circulating aspar...	OMIM:620300
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Myoclonic-Astatic Epilepsy	Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Premature skin wrinkling, Focal-...	ORPHA:1942
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Fever, Abnormality of th...	ORPHA:79456
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Spotty hyperpigmentation, Erythema migrans, Skin vesicle, Generalized reticulate brown pigmentati...	ORPHA:158681
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Abnormal EKG, Elevated circulating creatinine concentration, Hypothermia, Sy...	ORPHA:230
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Alexander Disease	Hypotension, Seizure, Hypothermia, Gait disturbance, Ataxia, Hyperpigmented nevi, Sudden cardiac ...	ORPHA:58
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Classic Mycosis Fungoides	Erythema, Irregular hyperpigmentation, Skin ulcer, Hypopigmented skin patches, Dry skin, Splenome...	ORPHA:2584
Weaver Syndrome	Redundant skin	ORPHA:3447
Congenital Rubella Syndrome	Seizure, Intrauterine growth retardation, Splenomegaly, Aplasia/Hypoplasia of the iris, Abnormali...	ORPHA:290
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Cutis laxa	OMIM:614100
Acquired Purpura Fulminans	Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Pyoderm...	ORPHA:49566
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Growth delay, Intrauterine growth retardation, Splenomegaly, Hepato...	OMIM:618541
Thanatophoric Dysplasia Type 2	Short stature, Redundant skin, Seizure	ORPHA:93274
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin, Hyperbilirubinemia, Hypothermia, Lethargy, Bradycardia, Growth delay, Increased circula...	OMIM:218700
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Short stature, Irregular hyperpigmentation, Delayed puberty, Generalized hypopigmentation	ORPHA:1816
Rhabdoid Tumor	Fever, Hypercalcemia, Neoplasm of the liver, Internal hemorrhage, Hypertension	ORPHA:69077
Attenuated Chédiak-Higashi Syndrome	Gingival bleeding, Epistaxis, Skin ulcer, Bruising susceptibility, Ocular albinism, Generalized h...	ORPHA:352723
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Neonatal death	OMIM:615524
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Seizure, Inability to walk, Hypothermia, Multifocal sei...	ORPHA:488632
6P22 Microdeletion Syndrome	Redundant skin	ORPHA:251046
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Trichothiodystrophy 8, Nonphotosensitive	Cutis laxa	OMIM:619691
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Heat intolerance,...	ORPHA:98794
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival bleeding, Bruising susceptibility, Soft, doughy skin, Postnatal growth retardation, Redu...	OMIM:225410
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro...	OMIM:222470
Fanconi Anemia, Complementation Group G	Multiple cafe-au-lait spots, Growth delay, Microphthalmia	OMIM:614082
Arterial Tortuosity Syndrome	Aortic valve stenosis, Aortic regurgitation, Bruising susceptibility, Soft, doughy skin, Ischemic...	OMIM:208050
Iron Overload, Susceptibility To	Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir...	OMIM:620121
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r...	ORPHA:766
Combined Oxidative Phosphorylation Deficiency 5	Seizure, Hypertrophic cardiomyopathy, Hyperammonemia, Death in infancy, Redundant neck skin, Grow...	OMIM:611719
Cutis Laxa, Autosomal Recessive, Type Iib	Bruising susceptibility, Intrauterine growth retardation, Redundant skin, Excessive wrinkled skin...	OMIM:612940
Costello Syndrome	Hypertrophic cardiomyopathy, Generalized hyperpigmentation, Redundant skin, Lack of skin elastici...	ORPHA:3071
Anonychia With Flexural Pigmentation	Dry skin, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Vici Syndrome	Hypopigmentation of the skin, Cardiomyopathy, Seizure, Abnormality of retinal pigmentation, Death...	ORPHA:1493
Agel Amyloidosis	Bruising susceptibility, Cardiomyopathy, Dry skin, Orthostatic hypotension due to autonomic dysfu...	ORPHA:85448
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Hypocalcemia, Seizure, Microphthalmia	ORPHA:1438
Seckel Syndrome 2	Few cafe-au-lait spots, Microphthalmia, Short stature, Heart murmur, Growth delay	OMIM:606744
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2251
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Pulmonary hemorrhage, Splenomegaly, Hyperammonemia,...	OMIM:222700
Cranioectodermal Dysplasia 4	Short stature, Cutis laxa	OMIM:614378
Foxp1 Syndrome	Decreased circulating iron concentration, Pulmonary arterial hypertension, Seizure	ORPHA:391372
Cutis Laxa, Autosomal Recessive, Type Iiib	Intrauterine growth retardation, Excessive wrinkled skin, Cutis laxa, Dermal translucency, Athetosis	OMIM:614438
Ehlers-Danlos Syndrome, Hypermobility Type	Loss of ambulation, Striae distensae, Hyperextensible skin, Soft skin	OMIM:130020
Gracile Bone Dysplasia	Seizure, Aniridia, Hypocalcemia, Death in infancy, Microphthalmia, Short stature, Asplenia, Hypop...	OMIM:602361
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Angelman Syndrome	Ataxia, Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Fair hair, Seizure...	ORPHA:72
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Intrauterine growth retardation, Dysmetria, Microphthalmia, Short stature	ORPHA:48431
Adult-Onset Autosomal Dominant Leukodystrophy	Temperature instability, Gait ataxia, Hypothermia, Dysmetria, Gait disturbance, Orthostatic hypot...	ORPHA:99027
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Rin2 Syndrome	Redundant skin, Bruising susceptibility, Hyperextensible skin	ORPHA:217335
Bohring-Opitz Syndrome	Seizure, Intrauterine growth retardation, Mesomelic/rhizomelic limb shortening, Hyperechogenic pa...	OMIM:605039
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
De Barsy Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Excessive wrinkled skin, Cutis lax...	ORPHA:2962
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Abnormal circulating ...	ORPHA:79332
Pierpont Syndrome	Short stature, Seizure, Microphthalmia	OMIM:602342
Ogden Syndrome	Facial wrinkling, Torsade de pointes, Postnatal growth retardation, Hyperbilirubinemia, Premature...	OMIM:300855
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Skin ulcer, Hepatitis, Fever, Hypocalcemia, Short stature	ORPHA:47
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Hyperextensible skin, Cutis laxa, Short stature, Dermal translucency, Soft skin	OMIM:615349
X-Linked Ehlers-Danlos Syndrome	Short stature, Bruising susceptibility, Hyperextensible skin	ORPHA:75497
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Seizure, Hypocholestero...	ORPHA:79324
Neuralgic Amyotrophy	Short stature, Redundant neck skin	ORPHA:2901
Lissencephaly 8	Microphthalmia, Seizure, Elevated circulating creatine kinase concentration	OMIM:617255
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short stature, Postnatal growth retardation, Cutis laxa	OMIM:614800
C Syndrome	Hepatomegaly, Cutis laxa, Short stature, Seizure	OMIM:211750
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Pulmonary arterial hypertension, Microphthalmia	OMIM:300887
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Broad-based gait, Seizure, Bilateral tonic-clonic seizu...	ORPHA:438213
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Soft, doughy skin, Mild short stature, Bruising susceptibility, Hyperextensible skin	OMIM:130060
Nanophthalmos 4	Microphthalmia	OMIM:615972
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Redundant neck skin, Seizure, Microphthalmia	OMIM:618652
Pierpont Syndrome	Excessive wrinkling of palmar skin, Microphthalmia	ORPHA:487825
Anauxetic Dysplasia 3	Severe short stature, Cutis laxa	OMIM:618853
Garg-Mishra Progeroid Syndrome	Increased circulating lactate dehydrogenase concentration, Postnatal growth retardation, Microves...	OMIM:620601
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Heterochromia iridis, Ataxia, Hypopigmen...	ORPHA:2885
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Intrauterine growth retardation, Hypopigmentation of the skin	ORPHA:261304
Cutis Laxa-Marfanoid Syndrome	Redundant skin	ORPHA:171719
Hermansky-Pudlak Syndrome 8	Gingival bleeding, Epistaxis, Silver-gray hair, Bruising susceptibility, Excessive bleeding from ...	OMIM:614077
Coffin-Lowry Syndrome	Seizure, Death in early adulthood, Redundant skin, Abnormality of retinal pigmentation, Gait dist...	ORPHA:192
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Rahman Syndrome	Redundant skin	OMIM:617537
Thanatophoric Dysplasia Type 1	Redundant skin, Lethal short-limbed short stature, Seizure, Excessive wrinkled skin	ORPHA:1860
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Biliary tract abnormality, Arrhythmia, Microphthalmia, ...	ORPHA:3191
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypoplasia of the fovea, White eyebr...	ORPHA:352731
Naegeli-Franceschetti-Jadassohn Syndrome	Hypopigmentation of the skin, Heat intolerance, Dry skin, Generalized reticulate brown pigmentati...	ORPHA:69087
Cardiofaciocutaneous Syndrome	Hypertrophic cardiomyopathy, Dry skin, Multiple lentigines, Generalized hyperpigmentation, Redund...	ORPHA:1340
Weaver Syndrome	Seizure, Generalized non-motor (absence) seizure, Melanocytic nevus, Cutis laxa, Bilateral tonic-...	OMIM:277590
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Cardiofaciocutaneous Syndrome 4	Heat intolerance, Multiple lentigines, Hyperextensible skin, Short stature, Cafe-au-lait spot, Pu...	OMIM:615280
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia	OMIM:615771
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Seizure, Postnatal growth retardation, Hypocalcemia, Severe intrauterine growt...	OMIM:241410
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypothermia, Pituitary dwarfism, Lethargy, Bradycardia, Prolonged neonatal jaundice, Growth delay...	ORPHA:226307
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Rhizomelia, Fair hair, Seizure, Cholestasis, Hepatosplenomegaly, Congenital hep...	OMIM:266920
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Hypopigmentation of the skin, Postnatal ...	OMIM:210900
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Dry skin, Abnormality of the liver, Intrauterine growth r...	ORPHA:84064
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Amyloidosis, Finnish Type	Cutis laxa, Decreased heart rate variability, Orthostatic hypotension, Cardiomyopathy	OMIM:105120
Schimmelpenning-Feuerstein-Mims Syndrome	Hypopigmentation of the skin, Seizure, Hypophosphatemic rickets, Short stature, Growth delay	OMIM:163200
Immunodeficiency 49	Cutis laxa, Seizure	OMIM:617237
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Vasculitis, Increased serum zinc	OMIM:601979
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Loeys-Dietz Syndrome 4	Bruising susceptibility, Striae distensae, Hyperextensible skin, Cutis laxa, Soft skin	OMIM:614816
Cutis Laxa, Autosomal Recessive, Type Ia	Aortic regurgitation, Redundant skin, Supravalvular aortic stenosis, Hyperextensible skin, Cutis ...	OMIM:219100
Biemond Syndrome Type 2	Short stature, Delayed puberty, Microphthalmia	ORPHA:141333
Angelman Syndrome	Broad-based gait, Hypopigmentation of the skin, Fair hair, Seizure, Progressive gait ataxia, Blue...	OMIM:105830
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Rhizomelia, Abnormally large globe, Hyperextensible skin, Cutis laxa, Short stature	OMIM:245600
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Focal hyperkinetic seizure, Generalized-onset seizure, Multifocal seizu...	ORPHA:77299
Cat-Eye Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:195
Blepharonasofacial Malformation Syndrome	Redundant skin	ORPHA:1252
Spondylo-Ocular Syndrome	Iris hypopigmentation, Hyperextensible skin, Disproportionate short-trunk short stature, Aplasia/...	ORPHA:85194
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Premature skin wrinkling, Postnatal growth retard...	ORPHA:90348
Macrocephaly/Autism Syndrome	Hepatomegaly, Cutis laxa, Splenomegaly	OMIM:605309
Microphthalmia, Syndromic 13	Short stature, Microphthalmia	OMIM:300915
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Mmep Syndrome	Microphthalmia	ORPHA:3434
Axenfeld-Rieger Syndrome	Redundant skin, Growth delay, Aplasia/Hypoplasia of the iris	ORPHA:782
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Microphthalmia	OMIM:610023
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated circulating hepatic transaminase concentration, Fever, Seizure, Hyperlipidemia, Hypother...	ORPHA:293987
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Bruising susceptibility, Arterial rupture, Hyperextensible skin, Short stature, Dermal translucency	OMIM:619120
Cranioectodermal Dysplasia 2	Rhizomelia, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Biliary cir...	OMIM:613610
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation	OMIM:601706
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Heat intolerance, Mixed hypo- and hyperpigmentation of...	ORPHA:79145
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Hypopigmentation of the skin, Seizure, Hypoplasia of the iris, Intrauterine grow...	OMIM:251300
Sarcoidosis	Hepatic failure, Hypopigmentation of the skin, Fever, Decreased liver function, Portal hypertensi...	ORPHA:797
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Intrauterine growth retardation, Cirrhosis, Chronic hep...	OMIM:614602
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Increased serum beta-hexosaminidase, Hypopigmentation of the skin, Tip-toe ...	OMIM:252500
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Microphthalmia	OMIM:611040
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bruising susceptibility, Tricuspid regurgitation, Mitral regurgitation, Hyperextensible skin, Cut...	OMIM:614557
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Fever, Seizure, Congestiv...	ORPHA:137675
Warburg Micro Syndrome 1	Short stature, Microphthalmia	OMIM:600118
Late-Onset Familial Hypoaldosteronism	Hypotension, Fever, Postnatal growth retardation, Hyponatremia, Orthostatic hypotension, Hyperkal...	ORPHA:556037
Incontinentia Pigmenti	Erythema, Irregular hyperpigmentation, Skin ulcer, Seizure, Congestive heart failure, Hypopigment...	ORPHA:464
Baraitser-Winter Syndrome 2	Short stature, Seizure, Microphthalmia	OMIM:614583
Bresek Syndrome	Intrauterine growth retardation, Neonatal death, Microphthalmia, Growth delay, Optic nerve hypopl...	ORPHA:85284
Geroderma Osteodysplasticum	Severe short stature, Cutis laxa, Neonatal wrinkled skin of hands and feet, Premature skin wrinkling	OMIM:231070
Slc39A8-Cdg	Disproportionate short-limb short stature, Seizure, Inability to walk, Abnormality of the liver, ...	ORPHA:468699
Trichorhinophalangeal Syndrome Type 2	Short stature, Growth delay, Redundant skin	ORPHA:502
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Death in childhood, Elevated circulating creatine kinase concentration	OMIM:613153
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Ehlers-Danlos Syndrome, Classic-Like, 2	Redundant skin, Bruising susceptibility, Hyperextensible skin	OMIM:618000
Oculocerebrocutaneous Syndrome	Anophthalmia, Seizure, Microphthalmia	OMIM:164180
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration	OMIM:212050
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Mitral regurgitation, Hyperextensible skin, Palmoplantar cutis laxa,...	OMIM:615355
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Hypoplasia of the fovea, Fr...	ORPHA:79431
Warburg Micro Syndrome 4	Seizure, Inability to walk, Severe postnatal growth retardation, Microphthalmia, Short stature, S...	OMIM:615663
Vici Syndrome	Dilated cardiomyopathy, Hypopigmentation of the skin, Cardiomyopathy, Congestive heart failure, S...	OMIM:242840
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Petechiae, Striae distensae, Bruising susceptibility, Hyperextensible skin	OMIM:225310
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Redundant skin, Mitral regurgitation, Hyperextens...	OMIM:123700
Developmental Delay With Variable Neurologic And Brain Abnormalities	Seizure, Microphthalmia	OMIM:619694
Osteoporosis-Pseudoglioma Syndrome	Loss of ambulation, Short stature, Microphthalmia, Waddling gait	ORPHA:2788
Hermansky-Pudlak Syndrome 6	Epistaxis, Hypopigmentation of the skin, Bruising susceptibility, Ocular albinism, Partial albini...	OMIM:614075
Scarf Syndrome	Hepatocellular adenoma, Cutis laxa	ORPHA:3134
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Bruising susceptibility, Hyperextensible skin, Moderately short stature	ORPHA:157965
Autosomal Recessive Cutis Laxa Type 1	Congestive heart failure, Intrauterine growth retardation, Redundant skin, Supravalvular aortic s...	ORPHA:90349
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Hypopigmented skin patches, Fever, Recurrent intrapulmonary hemorrhage, Hypertrophic ...	ORPHA:183
Refsum Disease	Cardiomyopathy, Dry skin, Splenomegaly, Abnormality of retinal pigmentation, Ataxia, Microphthalm...	ORPHA:773
Tetrasomy 5P	Seizure, Congestive heart failure, Postnatal growth retardation, Redundant neck skin, Pulmonary a...	ORPHA:3309
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Bruising susceptibility, Mitral regurgitation, Hyperextensible skin, Soft skin	OMIM:225320
Musculocontractural Ehlers-Danlos Syndrome	Abnormal bleeding, Bruising susceptibility, Abnormal mesentery morphology, Subcutaneous hemorrhag...	ORPHA:2953
Multiple Benign Circumferential Skin Creases On Limbs	Irregular hyperpigmentation, Congestive heart failure, Increased number of skin folds, Microphtha...	ORPHA:2505
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Epistaxis, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Abno...	ORPHA:79430
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Pulmonary Arteriovenous Malformation	Epistaxis, Abnormal bleeding, Seizure, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ...	ORPHA:2038
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Hepatomegaly, Jaundice, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Inc...	ORPHA:99827
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Seizure, Microphthalmia	OMIM:602501
Cranioectodermal Dysplasia 3	Rhizomelia, Dry skin, Cirrhosis, Cutis laxa, Short stature	OMIM:614099
Pontocerebellar Hypoplasia, Type 7	Hypopigmentation of the skin, Seizure, Myoclonus, Ataxia, Choreoathetosis	OMIM:614969
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating hepatic transaminase concentration, Seizure, Intrauterine growth retardation...	OMIM:301056
Aceruloplasminemia	Ataxia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri...	OMIM:604290
Myopathic Ehlers-Danlos Syndrome	Tip-toe gait, Pallor, Hyperextensible skin, Mildly elevated creatine kinase, Soft skin	ORPHA:536516
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Seizure, Postnatal growth retardation, Microphthalmia, Short stature	OMIM:243310
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Optic nerve hypoplasia, Soft, doughy skin, Hyperextensible skin, Cutis lax...	ORPHA:536471
Occipital Horn Syndrome	Bruising susceptibility, Hepatitis, Cholestasis, Hypothermia, Hyperextensible skin, Jaundice	ORPHA:198
Geroderma Osteodysplastica	Severe short stature, Redundant skin, Growth delay, Hyperextensible skin	ORPHA:2078
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches, Seizure, Ataxia, Short stature	ORPHA:2116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Seizure, Elevated circulating creatine kinase concentration, Tonic seizur...	OMIM:615249
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Recurrent fever, Hyperbilirubinemia, Hepatic steatosis, Ataxia, Jaundice, Cloni...	OMIM:619475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration	OMIM:615181
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Infantile Krabbe Disease	Unexplained fevers, Temperature instability, Hypopigmented skin patches, Seizure, Abnormal circul...	ORPHA:206436
Focal Facial Dermal Dysplasia Type I	Spotty hypopigmentation, Spotty hyperpigmentation	ORPHA:79133
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblast...	OMIM:614105
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Redundant skin, Death in childhood, Death in infancy, Cutis laxa, Growth delay	OMIM:613177
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, White hair, Ocular albinism, Seizure, Generalized hypopigmentation, Ataxia...	ORPHA:2720
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Broad-based gait, Falls, Tip-toe gait, Seizure, Hypomagnesemia, Cholestasis, Dry skin, ...	OMIM:619503
Deafness-Vitiligo-Achalasia Syndrome	Severe short stature, Hypopigmented skin patches	ORPHA:3239
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bruising susceptibility, Hyperextensible skin, Short stature, Waddling gait, Moderately short sta...	OMIM:612350
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Seizure, Microphthalmia, Short stature, Mild short stature, Optic nerve hypoplasia	OMIM:614833
Congenital Muscular Dystrophy With Cerebellar Involvement	Cardiomyopathy, Seizure, Elevated circulating creatine kinase concentration, Microphthalmia, Opti...	ORPHA:370959
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Yellow Fever	Pancreatic hyperplasia, Hyperbilirubinemia, Excessive bleeding after a venipuncture, Elevated cir...	ORPHA:99829
Cutis Laxa, Autosomal Recessive, Type Ib	Dermal translucency, Tricuspid regurgitation, Death in childhood, Neonatal death, Pulmonary arter...	OMIM:614437
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Elevated hepatic iron concentration	OMIM:206100
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Bruising susceptibility, Arterial rupture, Hyperextensible skin, Short stature, Dermal translucency	OMIM:619115
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Redundant skin, Hy...	ORPHA:3342
Cerebrooculofacioskeletal Syndrome 1	Death in childhood, Seizure, Microphthalmia	OMIM:214150
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Bruising susceptibility, Hyperextensible skin, Arrhythmia	ORPHA:230839
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Growth delay, Seizure, Hypertrophic cardiomyopathy, Postnatal growth retardation, Hepatosplenomeg...	ORPHA:96334
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Iris transillumination defect, Generalized hypopigmentation, Microphthalmia	OMIM:617306
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Microphthalmia, Syndromic 8	Microphthalmia, Premature skin wrinkling	OMIM:601349
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypopigmented skin patches, Seizure, Generalized-onset seizure, Gait disturbance, Cafe-au-lait sp...	ORPHA:457485
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lack of skin elastici...	OMIM:615381
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, H...	ORPHA:90308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Stiff Skin Syndrome	Short stature, Hypertension, Abnormal circulating lipid concentration, Lack of skin elasticity	ORPHA:2833
Hereditary Sensory And Autonomic Neuropathy Type 4	Unexplained fevers, Bruising susceptibility, Recurrent fever, Difficulty walking, Dry skin, Hypot...	ORPHA:642
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin	OMIM:601957
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches, Seizure	ORPHA:2875
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Seizure, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis...	ORPHA:974
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Hyperphosphatemi...	ORPHA:340
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Growth delay, Death in childhood, Microphthalmia	OMIM:610756
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Erythema, Hypopigmentation of the skin, Generalized reticulate brown pigmentatio...	ORPHA:79396
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Vitiligo, Short stature, Poliosis	ORPHA:3437
Magel2-Related Prader-Willi-Like Syndrome	Temperature instability, Hypopigmentation of the skin, Seizure, Lethargy, Short stature, Hypopigm...	ORPHA:398069
Warburg Micro Syndrome 3	Myoclonic seizure, Inability to walk, Postnatal growth retardation, Bilateral tonic-clonic seizur...	OMIM:614222
Lichen Planopilaris	Hypopigmented skin patches, Skin ulcer, Hepatitis	ORPHA:525
Hereditary Bullous Dystrophy, Macular Type	Spotty hypopigmentation, Hyperpigmentation of the skin, Short stature, Heart murmur, Growth delay	ORPHA:1867
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Inhalational Anthrax	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomen...	ORPHA:247257
Localized Scleroderma	Vasculitis, Erythema, Hypopigmented skin patches, Seizure, Vitiligo, Arrhythmia, Hyperpigmentatio...	ORPHA:90289
Macular Degeneration, Age-Related, 3	Hyperextensible skin	OMIM:608895
Cutis Laxa, Autosomal Recessive, Type Iid	Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Redundant skin, Cutis laxa, Right...	OMIM:617403
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormally large globe, Pancreatic lymphangiectasis, Postnatal growth retardatio...	ORPHA:1655
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Microphthalmia	ORPHA:93267
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Seizure, Microphthalmia	ORPHA:494344
Papillorenal Syndrome	Seizure, Elevated circulating creatinine concentration, Hyperextensible skin, Microphthalmia, Sho...	OMIM:120330
Hypomelanosis Of Ito	Seizure, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Walker-Warburg Syndrome	Seizure, Abnormal circulating lactate dehydrogenase concentration, Abnormal circulating creatine ...	ORPHA:899
Intellectual Disability And Myopathy Syndrome	Spotty hypopigmentation, Left ventricular systolic dysfunction, Cafe-au-lait spot	OMIM:619719
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor, Microphthalmia, Short stature, Cafe-au-lait spot, Optic ...	OMIM:609053
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Striae distensa...	ORPHA:758
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Trisomy 13	Seizure, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphth...	ORPHA:3378
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Lichen Planus Pemphigoides	Skin vesicle, Hypopigmented streaks	ORPHA:254478
Classical-Like Ehlers-Danlos Syndrome Type 2	Redundant skin, Bruising susceptibility, Hyperextensible skin, Hypertriglyceridemia	ORPHA:536532
Hartsfield Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:2117
Temtamy Syndrome	Aortic regurgitation, Seizure, Microphthalmia	OMIM:218340
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Hypertrophic cardiomyopathy, Redundant neck skin, Hepatomegaly, Severe short-limb dwa...	ORPHA:1842
Antisynthetase Syndrome	Aortic regurgitation, Fever, Elevated circulating creatine kinase concentration, Lack of skin ela...	ORPHA:81
Linear Skin Defects With Multiple Congenital Anomalies 3	Hyperpigmented streaks, Dilated cardiomyopathy, Seizure, Histiocytoid cardiomyopathy, Ventricular...	OMIM:300952
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Seizure, Difficulty walking, Inability to walk, Gait disturbance, Microphthalmia, Short stature	OMIM:618571
Porphyria, Congenital Erythropoietic	Cholelithiasis, Hypopigmentation of the skin, Elevated circulating uroporphyrin concentration, Sp...	OMIM:263700
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Ataxia, Microphthalmia, ...	ORPHA:435638
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Xeroderma Pigmentosum	Erythema, Hypopigmented skin patches, Seizure, Fever, Dry skin, Melanocytic nevus, Telangiectasia...	ORPHA:910
Osteogenesis Imperfecta	Aortic regurgitation, Ataxia, Rhizomelia, Bruising susceptibility, Intrauterine growth retardatio...	ORPHA:666
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Inability to walk, Seizure, Microphthalmia	OMIM:618494
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Bundle branch block, Intrauterine growth retardation, Melanocytic ne...	ORPHA:500
Fontaine Progeroid Syndrome	Premature skin wrinkling, Tricuspid regurgitation, Intrauterine growth retardation, Redundant ski...	OMIM:612289
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Cutis laxa	OMIM:270420
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Skin ulcer, Abnormality of skin pigmentation, Microphthalmia	ORPHA:1806
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Focal impaired awareness seizure, Death in infancy, Microphthalmia	OMIM:619135
Scarf Syndrome	Cutis laxa	OMIM:312830
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Intrauterine growth retardation, Death in infancy, Microphthalmia, Short stature	ORPHA:163966
Joubert Syndrome 14	Ataxia, Hypertension, Microphthalmia, Intracranial hemorrhage, Growth delay	OMIM:614424
Trichothiodystrophy 1, Photosensitive	Dry skin, Death in infancy, Telangiectasia, Freckling, Microphthalmia, Short stature	OMIM:601675
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Premature graying of hair, Lack of skin elasticity, Hyp...	ORPHA:1979
Monosomy 18P	Short stature, Hypertension, Microphthalmia	ORPHA:1598
Cockayne Syndrome B	Severe short stature, Pigmentary retinopathy, Seizure, Hypoplasia of the iris, Postnatal growth r...	OMIM:133540
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Lethargy, Hypopigmentation of the skin, Seizure	ORPHA:398079
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Gait disturbanc...	ORPHA:3214
Gapo Syndrome	Hepatomegaly, Redundant skin, Growth delay, Seizure	OMIM:230740
Neonatal Marfan Syndrome	Tricuspid regurgitation, Heart murmur, Cutis laxa, Mitral regurgitation	ORPHA:284979
Cystinosis, Nephropathic	Pigmentary retinopathy, Decreased circulating carnitine concentration, Growth delay, Hypopigmenta...	OMIM:219800
Degcags Syndrome	Hypopigmentation of the skin, Fever, Premature graying of hair, Cholestasis, Hepatosplenomegaly, ...	OMIM:619488
Joubert Syndrome 37	Hepatomegaly, Short stature, Microphthalmia	OMIM:619185
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Anemic pallor, Hyperpigmentation of the skin, Microphthalmia, Short stat...	OMIM:600901
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization, Pigmentary retinopathy, Microphthalmia	OMIM:193220
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Spotty hypopigmentation, Dry skin, Seizure	OMIM:300860
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