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Gene: Atox1 MGI:1333855

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Menkes Disease
Epileptic spasm, Decreased circulating ceruloplasmin concentration, Short stature, Hypothermia, C... OMIM:309400
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... OMIM:614482
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Fever, Silver-gray hair, Hepatosplenomegaly, Seizure,... OMIM:607624
Familial Benign Copper Deficiency
Seizure, Short stature, Decreased circulating copper concentration, Aplasia/Hypoplasia of the fovea ORPHA:1551
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Redundant skin, Intrauterine growth retardation OMIM:301021
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Abnormal circulating ceruloplasmin c... OMIM:620306
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ... OMIM:245400
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:617395
Spontaneous Periodic Hypothermia
Ataxia, Hypothermia, Seizure, Gait disturbance, Pallor, Arrhythmia, Abnormal pattern of respiration ORPHA:29822
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:435934
Dyschromatosis Universalis Hereditaria
Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip... ORPHA:241
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Abnormality of retinal pigmentation, Decre... ORPHA:48818
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Generalized hyperpigmentation, Congenital hepatic fibrosis, Elevat... ORPHA:79230
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Steppage gait, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Abnormal circu... ORPHA:521411
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Dyspnea, Pallor, Abnormality of iron homeostasis, Hy... ORPHA:75563
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor ORPHA:209981
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Decreased... OMIM:300972
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Respiratory insufficiency, Seizure, Bradycardia, Hyperalaninemia, Intrauterine growt... OMIM:614654
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Hemochromatosis, Neonatal
Abnormal bleeding, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necr... OMIM:231100
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Sudden epis... ORPHA:159
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Increased ci... OMIM:613313
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Seizu... ORPHA:33445
Meningococcal Meningitis
Shock, Fever, Neonatal respiratory distress, Elevated circulating C-reactive protein concentratio... ORPHA:33475
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Short stature, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Idiopathic Congenital Hypothyroidism
Hypothermia, Bradycardia, Prolonged neonatal jaundice, Lethargy, Neonatal hyperbilirubinemia ORPHA:95717
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Seizure, Apneic episodes in infancy, Hypothermia, Lethargy OMIM:610006
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Multifocal seizures, Apnea, Hypothermia, Focal motor status epilepticus, Focal-... OMIM:614498
Timothy Syndrome
Prolonged QT interval, Pneumonia, Hypothermia, Ventricular tachycardia, Atrioventricular block, S... OMIM:601005
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Cutis laxa, Decrea... OMIM:301045
Gemignani Syndrome
Short stature, Hypopigmented skin patches, Ataxia, Delayed puberty ORPHA:2074
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Death in infancy, Cardiac arrest, Hypothermia, Growth delay, Myoclonus, Arrhythmia, Abnormal patt... ORPHA:168593
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... ORPHA:26793
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia OMIM:615026
Granulomatous Slack Skin
Redundant skin, Erythema, Hypercalcemia, Cutis laxa ORPHA:33111
Developmental And Epileptic Encephalopathy 78
Inability to walk, Seizure, Status epilepticus, Hypothermia OMIM:618557
Copper Deficiency, Familial Benign
Seizure, Decreased circulating copper concentration OMIM:121270
Periodontal Ehlers-Danlos Syndrome
Hyperextensible skin, Short stature, Hypermelanotic macule ORPHA:75392
Primary Erythromelalgia
Erythema, Vasculitis, Hypothermia ORPHA:90026
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Gait disturbance, Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Increased circulati... OMIM:602390
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Seizure, Death in childhood... OMIM:256710
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... OMIM:251880
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Abnormal bleeding, Redundant skin, Cutis laxa ORPHA:91135
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Fever, Ataxia, Cardiac arrest, A... ORPHA:20
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Hypothermia, Dry skin, Bradycardia, Prolonged neonatal jaundice, Mottled pi... ORPHA:226313
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Seizure, Microphthalmia, Lethargy, Reduced dihydropyrimidine dehydrogenase level OMIM:274270
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypothermia, Respiratory insufficiency, Myoclonic seizure, Prolong... OMIM:618329
Beta-Thalassemia
Hepatomegaly, Abnormality of temperature regulation, Splenomegaly, Hepatitis, Skin ulcer, Respira... ORPHA:848
Phenylketonuria
Maternal hyperphenylalaninemia, Reduced phenylalanine hydroxylase level, Fair hair, Blue irides, ... OMIM:261600
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Pallor, Hypopigmentation of the skin ORPHA:2786
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Redundant neck skin, Hyperprolinemia, Cardiomyopathy, Pulmonary ar... OMIM:619003
Oculocerebral Syndrome With Hypopigmentation
Growth delay, Silver-gray hair, Athetosis, Hypopigmentation of the skin OMIM:257800
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Low plasma citrulline, Gait ataxia, Hyperventilation, Hepatomegaly, Ataxia, Dilated cardio... ORPHA:255210
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Familial Thyroid Dyshormonogenesis
Hypothermia, Bradycardia, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglobul... ORPHA:95716
Wilson Disease
Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... OMIM:277900
Griscelli Syndrome Type 2
Fever, Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, Hyperlip... ORPHA:79477
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Cutis laxa, Abnormality of skin pigmentation, Microphthalmia, Dry ... OMIM:612379
Cutis Laxa, Autosomal Recessive, Type Iiia
Short stature, Low plasma citrulline, Hyperammonemia, Cutis laxa, Seizure, Hypoprolinemia, Hypere... OMIM:219150
Infantile Sialic Acid Storage Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly, Seizure, Dea... OMIM:269920
Congenital Enterovirus Infection
Abnormal bleeding, Respiratory distress, Fever, Hypothermia, Myocarditis, Hepatitis, Cholestasis,... ORPHA:292
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Tachypnea, Reduced left ventricular e... OMIM:616501
Alg8-Cdg
Hyponatremia, Elevated hepatic transaminase, Ataxia, Cutis laxa, Seizure, Intrauterine growth ret... ORPHA:79325
Ehlers-Danlos Syndrome, Classic Type, 2
Hyperextensible skin, Recurrent sinusitis, Soft, doughy skin, Bruising susceptibility, Soft skin OMIM:130010
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Hypocalcemia, Aspiration ... ORPHA:94093
Occipital Horn Syndrome
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... OMIM:304150
Fibrinolytic Defect
Spontaneous hematomas, Hyperextensible skin OMIM:134900
Griscelli Syndrome Type 1
Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Seizure, Iris hy... ORPHA:79476
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Increased se... OMIM:603358
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Rafiq Syndrome
Seizure, Short stature, Ataxia, Cutis laxa OMIM:614202
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... ORPHA:101330
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Nonproductive cough, Hypoalbuminemia, Letharg... ORPHA:99826
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Ataxia, Infantile spasms, Pulmon... ORPHA:79282
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Short stature, Cutis laxa, Growth delay, Abnormality of skin pigmentation, Hyperextensible skin, ... ORPHA:75496
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Mitral regurgitation, Cutis laxa OMIM:614434
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Seizure, Hyperextensible skin OMIM:615937
Maternal Uniparental Disomy Of Chromosome X
Short stature, Congestive heart failure, Seizure, Hepatic failure, Hypopigmentation of the skin ORPHA:261519
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Hypothermia, Congestive h... ORPHA:31826
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Congestive heart... ORPHA:465508
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Short stature, Redundant skin, Subretinal pigment epithelium hemorrhage, Pos... ORPHA:357074
Drug-Induced Localized Lipodystrophy
Erythema, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Hypothermia, Cardiorespiratory arrest, Growth delay, Stridor, Bronchospasm, Bradycardia, A... OMIM:608800
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hypoventilation, Abnormality of temperature regulation, Short stature, Hypothermia, Inabil... OMIM:618493
Porphyria Variegata
Hyponatremia, Elevated hepatic transaminase, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:79473
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Short stature, Partial albinism ORPHA:90023
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... ORPHA:446
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of hair, Hypopigmentatio... OMIM:619165
Amyloidosis, Finnish Type
Cardiomyopathy, Cutis laxa OMIM:105120
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Card... OMIM:606069
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Gingival... OMIM:614072
Developmental And Epileptic Encephalopathy 1
Infantile spasms, Tonic seizure, Focal-onset seizure, Dyspnea, Focal motor seizure, Growth delay,... OMIM:308350
Classic Phenylketonuria
Hypopigmentation of hair, Lack of skin elasticity, Growth delay, Seizure, Hyperphenylalaninemia, ... ORPHA:79254
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia, Ataxia, Infantile spasms OMIM:278780
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin ORPHA:35664
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis, Cutis laxa OMIM:610842
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
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Respiratory insufficiency, Hepatomegaly ORPHA:2432
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Reduced systolic function, Dilated cardiomyopathy, Elevated circu... OMIM:618805
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Unsteady gait, Cutis laxa, Seizure, Scaling skin, Dry skin ORPHA:2269
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Redundant skin, Congestive... OMIM:616482
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:89838
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Post-partum hemorrhage, Melena, Oral cavity bleedin... ORPHA:98870
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset... ORPHA:98795
Cofs Syndrome
Abnormality of retinal pigmentation, Death in infancy, Short stature, Seizure, Microphthalmia, In... ORPHA:1466
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Hypothermia, Prolonged neonatal jaundice, Lethargy, Mo... ORPHA:226316
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Hypothermia, Hy... OMIM:618775
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Man1B1-Cdg
Multiple cafe-au-lait spots, Seizure, Broad-based gait, Cutis laxa ORPHA:397941
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Telangiectasia, Dry skin, Hypopigmentation of the skin, Hyperpigme... ORPHA:90342
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Short stature, C... ORPHA:363705
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Seizure, Decreased ... ORPHA:541423
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Cholestasis, Growth delay, Delayed puberty, Red hair, Hypopigmentation of ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Cholestasis, Growth delay, Delayed puberty, Red hair, Hypopigmentation of ... ORPHA:71526
Acute Transverse Myelitis
Fever, Orthostatic hypotension, Abnormality of temperature regulation, Decreased circulating copp... ORPHA:139417
Wrinkly Skin Syndrome
Short stature, Postnatal growth retardation, Excessive skin wrinkling on dorsum of hands and fing... ORPHA:2834
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Ataxia, Seizure, Hypopigmentation of the skin, Iris h... ORPHA:411515
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec... OMIM:203300
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Dry skin, Growth delay, Bradycardia, Prolonged neonatal jaundice, Hypercholesterolem... ORPHA:90674
Dominant Beta-Thalassemia
Hepatocellular carcinoma, Hypersplenism, High-output congestive heart failure, Splenomegaly, Dila... ORPHA:231226
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Cutis laxa, Mitral regur... OMIM:314400
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair OMIM:113750
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Hypopigmentation of the skin OMIM:617294
Ogden Syndrome
Postnatal growth retardation, Cutis laxa, Shuffling gait, Cardiogenic shock, Arrhythmia, Lethargy ORPHA:276432
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati... ORPHA:79397
Acute Radiation Syndrome
Abnormal bleeding, Fever, Skin ulcer, Telangiectasia, Seizure, Interstitial pneumonitis, Scaling ... ORPHA:454831
Griscelli Syndrome
Fever, Hepatomegaly, Short stature, Ataxia, Splenomegaly, Jaundice, White hair, Silver-gray hair,... ORPHA:381
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Abnormal circulating enzyme ... ORPHA:17
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Jaundice, Seizu... ORPHA:858
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Splenomegaly, Jaund... ORPHA:231222
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Combined Oxidative Phosphorylation Deficiency 2
Elevated hepatic transaminase, Lethargy, Redundant neck skin, Neonatal death OMIM:610498
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Cutis Laxa, Autosomal Recessive, Type Iie
Short stature, Cutis laxa OMIM:619451
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Hyperextensible skin OMIM:619764
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Increased blood urea nitr... OMIM:223360
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin, Elevated circulating creatine kinase concentration, Hyperlipidemia,... OMIM:615980
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Increased ci... OMIM:235200
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin ORPHA:1779
Ehlers-Danlos Syndrome, Periodontal Type, 2
Pretibial hyperpigmentation, Bruising susceptibility, Hyperextensible skin, Gingival bleeding OMIM:617174
X-Linked Creatine Transporter Deficiency
Short stature, Redundant skin, Ataxia, Abnormal circulating creatine concentration, Seizure, Athe... ORPHA:52503
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Macular telangiectasia, Hypermelanotic... ORPHA:69125
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Short stature OMIM:610798
Idiopathic Localized Lipodystrophy
Erythema, Hypopigmentation of the skin, Scaling skin, Hyperpigmentation of the skin ORPHA:90158
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia, Seizure, Central apnea ORPHA:1617
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perianal erythema, Short stature, Ataxia, Splenomegaly, Low alkaline phosphatase, D... OMIM:201100
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Hypopigmentation of the skin, I... ORPHA:167
Beta-Thalassemia Major
Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, High-output congestive heart failure, Sple... ORPHA:231214
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Hypopigmentation of... ORPHA:158029
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Short stature, Abnormality of skin pigmentation, Seizure, Mi... OMIM:251270
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Hypothermia, Bradycardia, Prolonged neonatal jaundice,... ORPHA:90673
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Cutis laxa OMIM:614100
Thanatophoric Dysplasia
Redundant skin, Respiratory insufficiency, Seizure, Disproportionate short-limb short stature, In... ORPHA:2655
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Seizure, Short stature, Intrauterine growth retardation OMIM:616171
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypothermia, Intracranial hemorrhage, Spon... ORPHA:565
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Hyperextensible skin, Arterial rupture, Elevated circulating creatine ki... ORPHA:300179
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Albinism, Ocular albinism, Macular hypopla... OMIM:614075
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypothermia, Dyspnea, Elevated circulating creatinine conc... ORPHA:230
Macs Syndrome
Prolonged bleeding time, Short stature, Redundant skin, Bronchiectasis, Cutis laxa, Hyperextensib... OMIM:613075
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Postnatal growth retardation, Cutis laxa, Intrauterine growth retardation, ... OMIM:616603
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Hepatomegaly, Seizure, Neonatal death, Microphthalmia OMIM:613730
Gracile Syndrome
Death in early adulthood, Increased circulating ferritin concentration, Cholestasis, Cirrhosis, E... ORPHA:53693
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:616570
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Hepatomegaly, Hypopigmentation of hair, Ataxia, Splenomegaly, J... OMIM:214500
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... OMIM:193510
Al-Raqad Syndrome
Inability to walk, Seizure, Hypopigmentation of the skin, Gait ataxia OMIM:616459
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Bradykinesia, Steppage gait, Incr... OMIM:613280
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... ORPHA:1942
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Intermittent hypothermia, Cardiorespiratory arrest, Choreoathetosis, Athetosis, Myoclonus,... OMIM:608643
Cutis Laxa, Autosomal Recessive, Type Iia
Redundant skin, Cutis laxa, Excessive wrinkled skin, Seizure, Intrauterine growth retardation OMIM:219200
Focal Facial Dermal Dysplasia Type Iii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Redundant skin ORPHA:1807
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... ORPHA:300298
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Thanatophoric Dysplasia Type 2
Seizure, Short stature, Redundant skin, Respiratory insufficiency ORPHA:93274
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Mixed hypo- and hyperpigmentation of the skin, ... ORPHA:79456
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Broad-based gait, Ataxia, Heat intolerance, Seizure, Gait imbalance, Hy... ORPHA:411511
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Alg3-Cdg
Abnormal circulating enzyme concentration or activity, Cardiomyopathy, Seizure, Decreased liver f... ORPHA:79321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Elevated circulating creatine kinase concentration, Inability to walk, Abnormal left ventricular ... OMIM:613155
Congenital Fibrinogen Deficiency
Abnormal bleeding, Fever, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombi... ORPHA:335
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentat... ORPHA:220402
Progeroid Syndrome, Petty Type
Intrauterine growth retardation, Short stature, Redundant skin, Cutis laxa ORPHA:2963
Alexander Disease
Ataxia, Sudden cardiac death, Hypothermia, Respiratory insufficiency, Hypertension, Seizure, Gait... ORPHA:58
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Iris hypopigmentation ORPHA:177910
Rhabdoid Tumor
Fever, Hypercalcemia, Respiratory insufficiency, Hypertension, Neoplasm of the liver, Internal he... ORPHA:69077
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino... OMIM:610198
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevate... OMIM:620300
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hypothermia, Growth delay, Stridor, Bradycardia, Hyper... OMIM:218700
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Seizure, Short stature, Hypopigmented skin patches, Delayed puberty ORPHA:1825
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Tbck-Related Intellectual Disability Syndrome
Multifocal seizures, Hypothermia, Inability to walk, Asthma, Respiratory insufficiency, Seizure, ... ORPHA:488632
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Multiple cafe-au-lait spots, Intrauterine growth re... OMIM:609054
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Slc35A2-Cdg
Elevated hepatic transaminase, Increased circulating thyroglobulin level, Short stature, Infantil... ORPHA:356961
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Short stature, Decreased nasal nitric oxide, Cutis laxa OMIM:614378
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Irregular hyperpigm... ORPHA:2584
Weaver Syndrome
Redundant skin ORPHA:3447
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Short stature, Splenomegaly, Jaundice, Aplasia... ORPHA:290
Acquired Purpura Fulminans
Shock, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Intracranial ... ORPHA:49566
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short stature, Redundant skin, Spontaneous neonatal pneumothorax, Postnatal growth retardation, H... OMIM:225410
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Intrauterine g... OMIM:618541
6P22 Microdeletion Syndrome
Redundant skin ORPHA:251046
Microphthalmia, Syndromic 12
Neonatal death, Microphthalmia, Anophthalmia OMIM:615524
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hypopigmentation, Irregular hyperpigmentation, Short stature, Delayed puberty ORPHA:1816
Seckel Syndrome 2
Few cafe-au-lait spots, Short stature, Heart murmur, Growth delay, Microphthalmia OMIM:606744
Trichothiodystrophy 8, Nonphotosensitive
Cutis laxa OMIM:619691
Attenuated Chédiak-Higashi Syndrome
Epistaxis, Ocular albinism, Skin ulcer, Gingival bleeding, Generalized hypopigmentation, Bruising... ORPHA:352723
Cutis Laxa-Marfanoid Syndrome
Emphysema, Redundant skin ORPHA:171719
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Broad-based gait, Ataxia, Heat intolerance, Seizure, Myoclonus, Gait im... ORPHA:98794
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Short stature, Splenomegaly, Increased circulating ferritin concentr... OMIM:222700
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia, Multiple cafe-au-lait spots OMIM:614082
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Splenomegaly, Elevated transferrin saturation, Increased ... ORPHA:766
Combined Oxidative Phosphorylation Deficiency 5
Death in infancy, Redundant neck skin, Hyperammonemia, Growth delay, Seizure, Hypertrophic cardio... OMIM:611719
Arterial Tortuosity Syndrome
Aortic regurgitation, Soft, doughy skin, Cutis laxa, Hypertension, Hyperextensible skin, Ischemic... OMIM:208050
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Myocardial infarction, Hyperhomocystinemia, Seizure, Hypermethionin... OMIM:236200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Short stature, Respiratory insufficiency, Cutis laxa, Hyperextensible skin, Soft skin, Dermal tra... OMIM:615349
Cutis Laxa, Autosomal Recessive, Type Iib
Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Intrauterine growth retardation... OMIM:612940
X-Linked Agammaglobulinemia
Fever, Sinusitis, Short stature, Recurrent pneumonia, Hypopigmented skin patches, Hepatitis, Skin... ORPHA:47
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Epileptic spasm, Broad-based gait, Short stature, Apnea, Decreased serum iron, B... ORPHA:438213
Bohring-Opitz Syndrome
Neonatal respiratory distress, Short stature, Mesomelic/rhizomelic limb shortening, Cutis laxa, S... OMIM:605039
Costello Syndrome
Generalized hyperpigmentation, Short stature, Redundant skin, Lack of skin elasticity, Pulmonic s... ORPHA:3071
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Short stature, Abnormality of the pancreas, Splenomegaly, Jau... OMIM:222470
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Dry skin OMIM:106750
Agel Amyloidosis
Ataxia, Dry skin, Cutis laxa, Cardiomyopathy, Abnormal spleen morphology, Arrhythmia, Bruising su... ORPHA:85448
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Hypopigmentation of the skin ORPHA:261304
Vici Syndrome
Abnormality of retinal pigmentation, Death in infancy, Short stature, Cardiomyopathy, Seizure, Hy... ORPHA:1493
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Erythema migrans, Skin vesicle, Spotty hyperpigmentati... ORPHA:158681
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Hypothermia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait di... ORPHA:99027
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Hypoventilation, Fever, Short stature, Central hypov... ORPHA:293987
Autosomal Recessive Cutis Laxa Type 2A
Abnormal bleeding, Generalized-onset seizure, Ataxia, Postnatal growth retardation, Inability to ... ORPHA:357058
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Short stature, Dysmetria, Microphthalmia, Intrauterine growth retardation ORPHA:48431
Ring Chromosome 10 Syndrome
Microphthalmia, Seizure, Hypocalcemia, Intrauterine growth retardation ORPHA:1438
Ogden Syndrome
Redundant neck skin, Generalized-onset seizure, Redundant skin, Apnea, Microvesicular hepatic ste... OMIM:300855
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
De Barsy Syndrome
Short stature, Postnatal growth retardation, Cutis laxa, Excessive wrinkled skin, Athetosis, Prog... ORPHA:2962
Thanatophoric Dysplasia Type 1
Redundant skin, Respiratory insufficiency, Excessive wrinkled skin, Seizure, Lethal short-limbed ... ORPHA:1860
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2251
Cutis Laxa, Autosomal Recessive, Type Iiib
Cutis laxa, Excessive wrinkled skin, Athetosis, Intrauterine growth retardation, Dermal translucency OMIM:614438
Subaortic Stenosis-Short Stature Syndrome
Short stature, Biliary tract abnormality, Respiratory insufficiency, Microphthalmia, Arrhythmia, ... ORPHA:3191
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Sarcoidosis
Heart block, Ventricular tachycardia, Cough, Emphysema, Hypopigmentation of the skin, Hepatomegal... ORPHA:797
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Pulmonary arterial hypertension, Seizure, Decreased serum iron ORPHA:391372
Rin2 Syndrome
Bruising susceptibility, Hyperextensible skin, Redundant skin ORPHA:217335
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit... ORPHA:79324
Gracile Bone Dysplasia
Death in infancy, Short stature, Asplenia, Seizure, Hypocalcemia, Aniridia, Microphthalmia, Hypop... OMIM:602361
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Optic nerve hypoplasia, Hypothermia, Growth delay, Bradycardia, Prolonged neo... ORPHA:226307
Angelman Syndrome
Hypopigmentation of the skin, Broad-based gait, Ataxia, Infantile spasms, Inability to walk, Seiz... ORPHA:72
B4Galt1-Cdg
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Redundant neck skin, Abnormal cir... ORPHA:79332
Lissencephaly 8
Microphthalmia, Seizure, Elevated circulating creatine kinase concentration OMIM:617255
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Pierpont Syndrome
Microphthalmia, Seizure, Short stature OMIM:602342
Bloom Syndrome
Hypopigmentation of the skin, Elevated hemoglobin A1c, Postnatal growth retardation, Spotty hypop... OMIM:210900
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dy... ORPHA:2038
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin... OMIM:277580
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Short stature, Cutis laxa OMIM:614800
C Syndrome
Hepatomegaly, Seizure, Short stature, Cutis laxa OMIM:211750
X-Linked Ehlers-Danlos Syndrome
Bruising susceptibility, Hyperextensible skin, Short stature ORPHA:75497
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Redundant skin, Congestive heart failure, Dyspnea, Bronchiectasis, Cutis la... OMIM:123700
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Pulmonary arterial hypertension, Short stature OMIM:300887
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Nanophthalmos 4
Microphthalmia OMIM:615972
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Soft, doughy skin, Mild short stature, Bruising susceptibility, Hyperextensible skin OMIM:130060
Anauxetic Dysplasia 3
Severe short stature, Cutis laxa OMIM:618853
Pierpont Syndrome
Microphthalmia, Excessive wrinkling of palmar skin ORPHA:487825
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Irregular hyperpigmentation, Hetero... ORPHA:2885
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Death in early adulthood, Short stature, Redundant skin, Sei... ORPHA:192
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Microphthalmia, Tricuspid regurgitation, Seizure OMIM:618652
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Redundant neck skin, Redundant skin, Postnatal growth retardation, Congesti... ORPHA:90348
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Cardiofaciocutaneous Syndrome
Generalized hyperpigmentation, Short stature, Redundant skin, Excessive wrinkled skin, Hyperexten... ORPHA:1340
Rahman Syndrome
Redundant skin OMIM:617537
Naegeli-Franceschetti-Jadassohn Syndrome
Reticulated skin pigmentation, Dry skin, Generalized reticulate brown pigmentation, Hyperpigmenta... ORPHA:69087
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Epistaxis, Albinism, Excessive bleeding after a venipuncture, Silver-gra... OMIM:614077
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris... ORPHA:352731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Elevated circulating creatine kinase concentration, Respiratory insufficiency, De... OMIM:613153
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Cardiofaciocutaneous Syndrome 4
Short stature, Optic nerve hypoplasia, Hyperextensible skin, Multiple lentigines, Pulmonic stenos... OMIM:615280
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia OMIM:615771
Weaver Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Melanocytic nevus, Cutis... OMIM:277590
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, F... ORPHA:137675
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Abnorm... ORPHA:84064
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Seizure, Hyperphosphatemia, Hypocalcemia, Severe intrauterine growt... OMIM:241410
Schimmelpenning-Feuerstein-Mims Syndrome
Short stature, Growth delay, Seizure, Hypophosphatemic rickets, Hypopigmentation of the skin OMIM:163200
Slc39A8-Cdg
Abnormal blood zinc concentration, Short stature, Sudden episodic apnea, Inability to walk, Seizu... ORPHA:468699
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Eosinophilic Granulomatosis With Polyangiitis
Fever, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Sinusitis, Myocardial infa... ORPHA:183
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Short stature, Cholangitis, Rhizomelia, Ataxia, Pancreatic cysts, Congenital hepati... OMIM:266920
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Immunodeficiency 49
Seizure, Cutis laxa OMIM:617237
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Severe short stature, Redundant skin, Congestive heart fai... ORPHA:90349
Biemond Syndrome Type 2
Microphthalmia, Short stature, Delayed puberty ORPHA:141333
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Vasculitis, Increased serum zinc OMIM:601979
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Bilateral microphthal... ORPHA:77299
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Localized Epidermolysis Bullosa Simplex
Mixed hypo- and hyperpigmentation of the skin, Heat intolerance ORPHA:79400
Angelman Syndrome
Broad-based gait, Ataxia, Blue irides, Seizure, Progressive gait ataxia, Fair hair, Hypopigmentat... OMIM:105830
Mmep Syndrome
Microphthalmia ORPHA:3434
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short stature, Hypere... ORPHA:85194
Macrocephaly/Autism Syndrome
Splenomegaly, Hepatomegaly, Cutis laxa OMIM:605309
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Blepharonasofacial Malformation Syndrome
Redundant skin ORPHA:1252
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Short stature, Abnormally large globe, Cutis laxa, Hyperextensible skin OMIM:245600
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Short stature, Cholangitis, Rhizomelia, Splenomegaly... OMIM:613610
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Refsum Disease
Abnormality of retinal pigmentation, Ataxia, Heart block, Splenomegaly, Respiratory insufficiency... ORPHA:773
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Tonic seizure, Abnormally large globe, Respir... OMIM:615249
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Tricuspid regurgitation, Cutis laxa, Mitral regurgitation, Hyperextensible skin, S... OMIM:614557
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Redundant skin, Cutis laxa, Supravalvular aortic stenosis OMIM:219100
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Growth delay, Redundant skin ORPHA:782
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Short stature, Arterial rupture, Hyperextensible skin, Bruising susceptibility, Dermal translucency OMIM:619120
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Cirrhosis, Intrauterine growth retardation OMIM:614602
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Elevated c... ORPHA:340
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Redundant skin, Recurrent pneumonia, Cutis laxa, Growth delay... OMIM:613177
Dowling-Degos Disease
Inguinal freckling, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Heat in... ORPHA:79145
Pontocerebellar Hypoplasia, Type 7
Ataxia, Apnea, Choreoathetosis, Seizure, Myoclonus, Hypopigmentation of the skin OMIM:614969
Galloway-Mowat Syndrome 1
Short stature, Ataxia, Hypoplasia of the iris, Seizure, Hypoalbuminemia, Microphthalmia, Hypopigm... OMIM:251300
Noonan Syndrome 8
Short stature, Pleural effusion, Mitral regurgitation, Hyperextensible skin, Pulmonic stenosis, P... OMIM:615355
Geroderma Osteodysplasticum
Premature skin wrinkling, Severe short stature, Neonatal wrinkled skin of hands and feet, Cutis laxa OMIM:231070
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundan... ORPHA:3342
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina OMIM:611040
Warburg Micro Syndrome 1
Microphthalmia, Short stature OMIM:600118
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Fever, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Increas... ORPHA:556037
Bresek Syndrome
Optic nerve hypoplasia, Growth delay, Neonatal death, Microphthalmia, Intrauterine growth retarda... ORPHA:85284
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Increased serum beta-hex... OMIM:252500
Trichorhinophalangeal Syndrome Type 2
Growth delay, Short stature, Redundant skin ORPHA:502
Baraitser-Winter Syndrome 2
Microphthalmia, Seizure, Short stature OMIM:614583
Warburg Micro Syndrome 4
Short stature, Inability to walk, Severe postnatal growth retardation, Seizure, Status epilepticu... OMIM:615663
Infantile Krabbe Disease
Respiratory distress, Abnormal circulating enzyme concentration or activity, Hypopigmented skin p... ORPHA:206436
Incontinentia Pigmenti
Telangiectasia of the skin, Short stature, Congestive heart failure, Erythema, Retinal hemorrhage... ORPHA:464
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Tetrasomy 5P
Respiratory distress, Redundant neck skin, Postnatal growth retardation, Congestive heart failure... ORPHA:3309
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron OMIM:212050
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Redundant skin, Abnormal mesentery morphology, Pneumothorax, Hyperextensible s... ORPHA:2953
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Seizure OMIM:164180
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Spondylodysplastic Ehlers-Danlos Syndrome
Soft, doughy skin, Short stature, Optic nerve hypoplasia, Respiratory insufficiency, Cutis laxa, ... ORPHA:536471
Scarf Syndrome
Hepatocellular adenoma, Cutis laxa ORPHA:3134
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epist... ORPHA:79430
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Bruising susceptibility, Hyperextensible skin ORPHA:157965
Inhalational Anthrax
Respiratory distress, Fever, Focal autonomic seizure with epigastric sensation/nausea/vomiting/ot... ORPHA:247257
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Microphthalmia, Short stature, Waddling gait ORPHA:2788
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Seizure OMIM:619694
Ehlers-Danlos Syndrome, Classic-Like, 2
Bruising susceptibility, Hyperextensible skin, Redundant skin OMIM:618000
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Hyperextensible skin, Soft skin, Bruising susceptibility OMIM:225320
Vici Syndrome
Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Postnatal... OMIM:242840
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigm... ORPHA:79431
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Congestive heart failure, Increased number of skin folds, Microphthalmia, Irregula... ORPHA:2505
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Facial erythema, Hypocalcemia, Scaling skin, Aspiration, Hepatic steatosis, Few cafe-au-la... OMIM:619503
Waardenburg Syndrome, Type 3
Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel... OMIM:148820
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Seizure OMIM:602501
Cranioectodermal Dysplasia 3
Rhizomelia, Short stature, Cutis laxa, Cirrhosis, Dry skin OMIM:614099
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Generalized-onset seizure, Focal-onset seizure, Asthma, Hypopigmented skin patches, Seizure, Gait... ORPHA:457485
Hartsfield Syndrome
Microphthalmia, Respiratory insufficiency, Intrauterine growth retardation ORPHA:2117
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Aceruloplasminemia, Decreased serum iron OMIM:604290
Occipital Horn Syndrome
Hypothermia, Jaundice, Hepatitis, Cholestasis, Hyperextensible skin, Bruising susceptibility ORPHA:198
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Bruising susceptibility, Hyperextensible skin, Petechiae OMIM:225310
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Seizure, Recurrent pneumonia, Death in childhood OMIM:214150
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Seizure, Microphthalmia, Mild short stature OMIM:614833
Myopathic Ehlers-Danlos Syndrome
Hyperextensible skin, Tip-toe gait, Pallor, Soft skin, Mildly elevated creatine kinase ORPHA:536516
Antisynthetase Syndrome
Aortic regurgitation, Fever, Telangiectasia of the skin, Elevated circulating creatine kinase con... ORPHA:81
Baraitser-Winter Syndrome 1
Short stature, Postnatal growth retardation, Seizure, Microphthalmia, Aortic valve stenosis OMIM:243310
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Short stature, Elevated circula... OMIM:301056
Geroderma Osteodysplastica
Growth delay, Severe short stature, Hyperextensible skin, Redundant skin ORPHA:2078
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Lethargy, Abnormal bleeding, Hepatomegaly, Abnormal circ... ORPHA:470
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Congestiv... ORPHA:90308
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Redundant neck skin, Short stature, Miscarriage, Postnatal growth retardation, Hepa... ORPHA:96334
Yellow Fever
Elevated circulating creatine kinase concentration, Internal hemorrhage, Abnormal bleeding, Eleva... ORPHA:99829
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonic seizure, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hepatic steatosis... 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
Decreased serum iron, Dilated cardiomyopathy, Growth delay, Decreased serum zinc, Hypoalbuminemia... ORPHA:89842
Prader-Willi Syndrome
Hypoventilation, Hypopigmentation of hair, Short stature, Iris hypopigmentation, Seizure, Delayed... OMIM:176270
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Waddling gait, Short stature, Moderately short stature, Hyperextensible skin, Bruising susceptibi... OMIM:612350
Hartnup Disease
Short stature, Ataxia, Hypopigmented skin patches, Seizure, Irregular hyperpigmentation ORPHA:2116
Focal Facial Dermal Dysplasia Type I
Spotty hyperpigmentation, Spotty hypopigmentation ORPHA:79133
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Hypopigmented skin patches ORPHA:3239
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Atrioventricular block, Lethargy, Abnormal EKG, Hepatomegaly, Intercostal re... ORPHA:1329
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Hypothermia, Growth delay, Syncope, Difficu... ORPHA:642
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Ataxia, White hair, Ocular albinism, Seizure, Generalized hypopigmentation, Iris h... ORPHA:2720
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Seizu... ORPHA:370959
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Short stature, Arterial rupture, Hyperextensible skin, Bruising susceptibility, Dermal translucency OMIM:619115
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, El... OMIM:615381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Cutis Laxa, Autosomal Recessive, Type Iid
Redundant skin, Congestive heart failure, Pneumothorax, Cutis laxa, Right bundle branch block, Se... OMIM:617403
Hereditary Bullous Dystrophy, Macular Type
Short stature, Pneumonia, Spotty hypopigmentation, Heart murmur, Growth delay, Hyperpigmentation ... ORPHA:1867
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Redundant neck skin, Rhizomelia, Respiratory insufficiency, Severe short-limb dwarf... ORPHA:1842
Microphthalmia, Syndromic 8
Microphthalmia, Premature skin wrinkling OMIM:601349
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmi... ORPHA:75249
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility, Hyperextensible skin ORPHA:230839
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Seizure, Cirrhosis... ORPHA:974
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Microphthalmia, Death in childhood, Intrauterine growth retardation OMIM:610756
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature, Iris transillumination defect, Generalized hypopigmentation OMIM:617306
Phakomatosis Pigmentovascularis
Seizure, Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Localized Scleroderma
Raynaud phenomenon, Vasculitis, Erythema, Hypopigmented skin patches, Abnormality on pulmonary fu... ORPHA:90289
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin OMIM:601957
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Postnatal growth retardation, Inability to walk, Myoclonic seizur... OMIM:614222
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Short stature, Seizure, Lethargy, Temperature instability, Hypopigmenta... ORPHA:398069
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Macular Degeneration, Age-Related, 3
Hyperextensible skin OMIM:608895
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentation, Gr... ORPHA:79396
Papillorenal Syndrome
Short stature, Elevated circulating creatinine concentration, Hypertension, Seizure, Hyperextensi... OMIM:120330
Vogt-Koyanagi-Harada Disease
Short stature, Poliosis, Hypopigmented skin patches, Premature graying of hair, Vitiligo ORPHA:3437
Lichen Planopilaris
Hypopigmented skin patches, Hepatitis, Skin ulcer ORPHA:525
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Stiff Skin Syndrome
Hypertension, Abnormal circulating lipid concentration, Short stature, Lack of skin elasticity ORPHA:2833
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Microphthalmia, Seizure, Intrauterine growth retardation ORPHA:494344
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Redundant neck skin, Abnormally large globe, Postnatal growth retardation, Splenome... ORPHA:1655
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Heart murmur, Cutis laxa, Hypoxemia, Mitr... ORPHA:284979
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Pallor, Microphthalmia, Cafe-au-lait spot, Intrauterine gr... OMIM:609053
Hypomelanosis Of Ito
Seizure, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Fontaine Progeroid Syndrome
Death in infancy, Tricuspid regurgitation, Short stature, Redundant skin, Pneumothorax, Respirato... OMIM:612289
Walker-Warburg Syndrome
Anophthalmia, Abnormal lactate dehydrogenase level, Seizure, Abnormal circulating creatine kinase... ORPHA:899
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Cafe-au-lait spot, Spotty hypopigmentation OMIM:619719
Trisomy 13
Anophthalmia, Aplasia/Hypoplasia of the iris, Seizure, Microphthalmia, Intrauterine growth retard... ORPHA:3378
Classical-Like Ehlers-Danlos Syndrome Type 2
Bruising susceptibility, Hyperextensible skin, Redundant skin, Hypertriglyceridemia ORPHA:536532
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Hyperpigmented streaks, Seizure,... OMIM:300952
Trichothiodystrophy 1, Photosensitive
Death in infancy, Freckling, Short stature, Asthma, Telangiectasia, Microphthalmia, Dry skin OMIM:601675
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Neonatal asphyxia, Heart murmur, Microphthalmia, Intrauterine growt... ORPHA:2728
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Specific Granule Deficiency 2
Death in infancy, Hyperextensible skin, Recurrent pneumonia, Death in childhood OMIM:617475
Temtamy Syndrome
Aortic regurgitation, Microphthalmia, Seizure OMIM:218340
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Microphthalmia, Retinal pigment epithelial mottling OMIM:614105
Lichen Planus Pemphigoides
Skin vesicle, Hypopigmented streaks ORPHA:254478
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Degcags Syndrome
Abnormality of skin pigmentation, Premature graying of hair, Pallor, Intrauterine growth retardat... OMIM:619488
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Portal hype... OMIM:620005
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Inability to walk, Seizure, Gait disturbance, Difficulty walking, Microphthalmia OMIM:618571
Osteogenesis Imperfecta
Aortic regurgitation, Neonatal respiratory distress, Short stature, Rhizomelia, Cerebral hemorrha... ORPHA:666
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Pulmonic stenosi... ORPHA:435638
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Cutis laxa OMIM:270420
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Microphthalmia, Short stature, Skin ulcer ORPHA:1806
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Severe short stature, Short stature, Seizure, Hyperphosphatemia, Hypo... OMIM:127000
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Xeroderma Pigmentosum
Conjunctival telangiectasia, Fever, Telangiectasia of the skin, Short stature, Hypermelanotic mac... ORPHA:910
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia, Focal impaired awareness seizure, Death in infancy OMIM:619135
Scarf Syndrome
Cutis laxa OMIM:312830
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Short stature, Freckling, Myocardial infarction, Melanocytic nevus, Growth d... ORPHA:500
Joubert Syndrome 14
Ataxia, Intracranial hemorrhage, Hypertension, Growth delay, Microphthalmia OMIM:614424
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Short stature, Microphthalmia, Intrauterine growth retardation ORPHA:163966
Moebius Syndrome
Respiratory distress, Microphthalmia, Dysdiadochokinesis, Gait disturbance OMIM:157900
Rothmund-Thomson Syndrome Type 1
Calcinosis, Short stature, Facial erythema, Growth delay, Telangiectasia, Hypopigmentation of the... ORPHA:221008
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Inability to walk, Microphthalmia, Seizure OMIM:618494
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Short stature, Dyspnea, Seizure, Mitral regurgitat... ORPHA:230851
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Piebaldism, Hypopigmented skin ... ORPHA:2884
Gapo Syndrome
Growth delay, Hepatomegaly, Seizure, Redundant skin OMIM:230740
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lack of skin elasticity, Abnormality of skin pigmentation, Premature graying of hair, Abnormal ci... ORPHA:1979
Monosomy 18P
Microphthalmia, Hypertension, Short stature ORPHA:1598
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Crouzon Syndrome
Hypopigmented skin patches, Respiratory insufficiency, Melanocytic nevus ORPHA:207
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Hypopigmentation of hair, Short stature, Seizure, Intrauterine growth retar... ORPHA:177907
Sim1-Related Prader-Willi-Like Syndrome
Seizure, Hypopigmentation of hair, Hypopigmentation of the skin, Lethargy ORPHA:398079
Joubert Syndrome 37
Microphthalmia, Short stature, Hepatomegaly OMIM:619185
Porphyria, Congenital Erythropoietic
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concentrat... OMIM:263700
Temtamy Syndrome
Microphthalmia ORPHA:1777
Cockayne Syndrome B
Hepatomegaly, Severe short stature, Ataxia, Postnatal growth retardation, Splenomegaly, Hypoplasi... OMIM:133540
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature, Cafe-au-lait spot, Microphthalmia, Bruising susceptibility, Hyperpi... OMIM:600901
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Neonatal respiratory distress, Microphthalmia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:619053
Wiskott-Aldrich Syndrome
Fever, Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Sudden... ORPHA:906
Vitreoretinochoroidopathy
Microphthalmia, Vitreous hemorrhage, Pigmentary retinopathy, Retinal neovascularization OMIM:193220
Aarskog-Scott Syndrome
Congestive heart failure, Hyperextensible skin, Short stature ORPHA:915
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Gait disturbance, Multiple cafe-au-lait spo... ORPHA:3214
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
17Q12 Microduplication Syndrome
Microphthalmia, Seizure ORPHA:261272
Diastrophic Dysplasia
Intrauterine growth retardation, Hyperextensible skin, Neonatal short-limb short stature, Respira... ORPHA:628
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Hypopigmentation of hair, Short stature, Seizure, Delayed puberty, Hypopigmentatio... ORPHA:98754
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Redundant neck skin OMIM:236500
Incontinentia Pigmenti
Hypoplasia of the fovea, Short stature, Erythema, Retinal hemorrhage, Abnormality of skin pigment... OMIM:308300
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Retinal pigmen... OMIM:219800
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Growth delay, Severe postnatal growth r... ORPHA:125
Intellectual Developmental Disorder, Autosomal Recessive 78
Asthma, Febrile seizure (within the age range of 3 months to 6 years), Hypopigmentation of the skin OMIM:620237
Ehlers-Danlos Syndrome, Periodontal Type, 1
Pretibial hyperpigmentation, Hyperextensible skin, Gingival bleeding, Palmoplantar cutis laxa, So... OMIM:130080
Williams-Beuren Syndrome
Short stature, Hypercalcemia, Portal hypertension, Blue irides, Cutis laxa, Premature graying of ... OMIM:194050
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature, Abnormality of skin pigmentation, Cafe-au-lait spot, Microphthalmia... OMIM:227650
Stevenson-Carey Syndrome
Microphthalmia, Seizure, Central hypoventilation OMIM:611961
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Redundant neck skin... OMIM:214100
Ruvalcaba Syndrome
Intrauterine growth retardation, Seizure, Hypopigmented skin patches, Delayed puberty ORPHA:3121
Adams-Oliver Syndrome 2
Microphthalmia, Seizure OMIM:614219
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Seizure, Dry skin, Spotty hypopigmentation OMIM:300860
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Hypopigmentation of hair, Short stature, Seizure, Delayed puberty, Hypopigmentatio... ORPHA:98793
Ermine Phenotype
Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h... ORPHA:999
Recombinant 8 Syndrome
Seizure, Redundant skin ORPHA:96167
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Hypopigmentation of hair, Short stature, Seizure, Delayed puberty, Hypopigmentatio... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Hypopigmentation of hair, Short stature, Seizure, Delayed puberty, Hypopigmentatio... ORPHA:177901
Sandestig-Stefanova Syndrome
Microphthalmia, Respiratory failure, Intrauterine growth retardation OMIM:618804
Fanconi Anemia, Complementation Group S
Microphthalmia, Short stature, Ataxia OMIM:617883
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Prolonged bleeding time, Hepatomegaly, Albinism, Splenomegaly, Re... OMIM:608233
Marden-Walker Syndrome
Postnatal growth retardation, Microphthalmia, Seizure, Intrauterine growth retardation OMIM:248700
Zaki Syndrome
Short stature, Unsteady gait, Seizure, Hyperextensible skin, Spastic gait OMIM:619648
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Seizure, Congenital giant melanocytic nevus, Hypopigmented skin... ORPHA:626
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... OMIM:187300
Cutis Laxa, Autosomal Recessive, Type Ib
Cutis laxa, Bradycardia, Soft skin, Emphysema, Pulmonary insufficiency, Dermal translucency OMIM:614437
Arthrochalasia Ehlers-Danlos Syndrome
Severe short stature, Hyperextensible skin ORPHA:1899
Rothmund-Thomson Syndrome Type 2
Calcinosis, Short stature, Erythema, Facial erythema, Growth delay, Hypopigmentation of the skin,... ORPHA:221016
Koolen-De Vries Syndrome Due To A Point Mutation
Generalized-onset seizure, Fair hair, Postnatal growth retardation, Intraventricular hemorrhage, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Generalized-onset seizure, Fair hair, Postnatal growth retardation, Intraventricular hemorrhage, ... ORPHA:363958
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
3Q29 Microdeletion Syndrome
Microphthalmia, Pulmonary arterial hypertension, Abnormality of skin pigmentation, Gait disturbance ORPHA:65286
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Death in infancy, Redundant neck skin, Splenomegaly, Pancreatic lymphangiectasis, H... OMIM:235255
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Chronic Actinic Dermatitis
Allergic rhinitis, Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormality of retinal pigmentation, Tricuspid regurgitation, Anophthalmia,... ORPHA:2556
Trichorhinophalangeal Syndrome, Type Ii
Mild postnatal growth retardation, Myocardial infarction, Redundant skin in infancy, Recurrent pn... OMIM:150230
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Uns... ORPHA:90324
Fanconi Anemia, Complementation Group C
Anemic pallor, Short stature, Cafe-au-lait spot, Microphthalmia, Bruising susceptibility, Hyperpi... OMIM:227645
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Myoclonic seizure OMIM:152950
Micro Syndrome
Abnormality of retinal pigmentation, Short stature, Seizure, Delayed puberty, Microphthalmia, Int... ORPHA:2510
Systemic Sclerosis
Pericarditis, Nail bed telangiectasia, Elevated circulating creatine kinase concentration, Right ... ORPHA:90291
Lenz-Majewski Hyperostotic Dwarfism
Intrauterine growth retardation, Short stature, Cutis laxa OMIM:151050
Hepatoerythropoietic Porphyria
Abnormal bleeding, Abnormal circulating enzyme concentration or activity, Abnormal circulating po... ORPHA:95159
Galloway-Mowat Syndrome 3
Short stature, Hypertension, Seizure, Hypoalbuminemia, Microphthalmia, Intrauterine growth retard... OMIM:617729
Rothmund-Thomson Syndrome
Calcinosis, Telangiectasia of the skin, Short stature, Reticular hyperpigmentation, Hypopigmentat... ORPHA:2909
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Prader-Willi Syndrome
Hypopigmentation of hair, Short stature, Hypertension, Seizure, Hypopigmentation of the skin ORPHA:739
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Pulmonary arterial hypertension, Seizure, Recurrent pneumonia OMIM:616449
Ablepharon Macrostomia Syndrome
Redundant skin, Growth delay, Excessive wrinkled skin, Abnormality of skin pigmentation, Dry skin ORPHA:920
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Ataxia OMIM:172850
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Myocardial infarction, Pulmonary embolism, Abnormal erythrocyte enzyme leve... ORPHA:447
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Hypopigmented skin patches,... ORPHA:894
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Xeroderma Pigmentosum, Complementation Group C
Freckling, Hypopigmentation of the skin, Telangiectasia OMIM:278720
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure, Proportionate short stature, Recurrent pneumonia, Telangiectasia,... OMIM:234100
Barber-Say Syndrome
Hyperextensible skin, Redundant skin ORPHA:1231
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Xeroderma Pigmentosum, Complementation Group B
Freckling, Short stature, Ataxia, Pigmentary retinopathy, Microphthalmia OMIM:610651
Ehlers-Danlos Syndrome, Classic Type, 1
Short stature, Hyperextensible skin, Recurrent sinusitis, Soft skin, Bruising susceptibility OMIM:130000
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Severe short st... ORPHA:191
Rodrigues Blindness
Microphthalmia, Nasal flaring, Short stature OMIM:268320
Williams Syndrome
Elevated circulating creatine kinase concentration, Myocardial infarction, Redundant skin, Dysmet... ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Respiratory insuffici... OMIM:253800
Superficial Siderosis
Abnormal bleeding, Ataxia, Subarachnoid hemorrhage, Unsteady gait, Dysmetria, Limb ataxia, Seizur... ORPHA:247245
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Short stature, Pneumothorax, Cutis laxa, Right bun... OMIM:617402
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Febrile seizure (within the age range of 3 months to 6 years), Seizure ORPHA:404440
Ehlers-Danlos Syndrome, Classic-Like
Soft skin, Bruising susceptibility, Hyperextensible skin, Striae distensae OMIM:606408
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Ataxia, Portal hypertension, Hypopigmented skin patches, Hepatosp... OMIM:609136
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia, Seizure OMIM:616920
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Recurrent pneumonia, Pulmonary arterial hypertension, Seizure, Difficulty walk... ORPHA:464738
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Redundant skin OMIM:259100
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Multifocal seizures, Hepatosplenomegaly, Seizure, Cholecystitis, Cholelithiasis, Hy... OMIM:301066
Microphthalmia, Syndromic 5
Anophthalmia, Short stature, Optic nerve hypoplasia, Seizure, Microphthalmia OMIM:610125
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Death in infancy, Hypercholesterolemia, Hypoammonemia, Short stature, Skin ulcer, R... ORPHA:534
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Telangiectasia of the skin, Short stature, Hypermelanotic... ORPHA:1775
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Microphthalmia, Short stature, Scaling skin ORPHA:35173
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Seizure, Pulmonic stenosis, Microphthalmia, Cafe-au-lait spot OMIM:619148
Familial Exudative Vitreoretinopathy
Microphthalmia, Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization ORPHA:891
Fountain Syndrome
Seizure, Erythema, Hyperextensible skin, Short stature ORPHA:3219
Atelis Syndrome 2
Dyspnea, Dysmetria, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Seizure, Pulmonic stenos... OMIM:620185
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Redundant neck skin, Seizure ORPHA:2519
Noonan Syndrome 10
Mitral stenosis, Short stature, Pleural effusion, Mitral regurgitation, Hyperextensible skin, Pul... OMIM:616564
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation OMIM:206920
Mosaic Trisomy 8
Hypopigmentation of the skin, Short stature, Hypopigmented skin patches ORPHA:96061
Cohen Syndrome
Abnormality of retinal pigmentation, Short stature, Abnormality of skin pigmentation, Seizure, De... ORPHA:193
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Hypopigmented skin patches, Seizure, Multiple cafe-au-lait spots,... ORPHA:2637
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Death in infancy, Elevated circulating creatine kinase concentration, Buphthalmos, Seizure, Micro... OMIM:613150
Emanuel Syndrome
Redundant neck skin, Growth delay, Seizure, Pulmonic stenosis, Cough, Intrauterine growth retarda... ORPHA:96170
Mend Syndrome
Short stature, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Spotty hypopigmentation,... ORPHA:401973
Harrod Syndrome
Intrauterine growth retardation, Seizure, Hypopigmented skin patches ORPHA:2115
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Abnormal circulating enzyme concentration or activity, Congestive heart failur... ORPHA:1900
Linear Nevus Sebaceus Syndrome
Melanocytic nevus, Growth delay, Seizure, Microphthalmia, Irregular hyperpigmentation ORPHA:2612
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Pulmonic stenosis OMIM:618914
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... OMIM:302960
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Seizure, Gait disturbance OMIM:620098
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Respiratory failure, Elevated circulating creatine kinase concentration OMIM:616538
Frontofacionasal Dysplasia
Brushfield spots, Microphthalmia, Short stature ORPHA:1791
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Short stature, Ataxia ORPHA:369891
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Ataxia, Splenomegaly, Hypopigmented skin patches, Prematu... ORPHA:163746
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, Intra... OMIM:603467
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Hypopla... OMIM:611584
Coffin-Lowry Syndrome
Seizure, Mitral regurgitation, Short stature, Cutis laxa OMIM:303600
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Curry-Jones Syndrome
Microphthalmia, Hypopigmented skin patches ORPHA:1553
Martsolf Syndrome 1
Short stature, Cardiac arrest, Congestive heart failure, Cardiomyopathy, Tracheomalacia, Micropht... OMIM:212720
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Severe Oculo-Renal-Cerebellar Syndrome
Choreoathetosis, Abnormality of retinal pigmentation, Short stature, Hypopigmented skin patches ORPHA:2715
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Redundant skin, Short s... ORPHA:286
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Seizure ORPHA:139471
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616395
Microphthalmia, Syndromic 9
Anophthalmia, Short stature, Severe short stature, Bilateral microphthalmos, Multilobulated splee... OMIM:601186
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Seizure, Short stature OMIM:612530
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature, Death in childhood OMIM:610758
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Short stature, Apnea, Growth delay, Seizure, Abnormality of skin pigmentati... ORPHA:1052
Joubert Syndrome 2
Central apnea, Ataxia, Episodic tachypnea, Seizure, Microphthalmia, Neonatal breathing dysregulation OMIM:608091
Matthew-Wood Syndrome
Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann... ORPHA:2470
Kleefstra Syndrome Due To A Point Mutation
Tracheomalacia, Seizure, Hyperextensible skin, Short stature ORPHA:261652
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Short stature, Generalized non-motor (absence) seizure, Seizure, Intrauterin... OMIM:617360
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Hyperphospha... ORPHA:93325
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:228390
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Linear hyperpigmentation, Seizure OMIM:613001
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Noonan Syndrome 2
Mitral stenosis, Short stature, Cardiomyopathy, Hyperextensible skin, Pulmonic stenosis, Palmopla... OMIM:605275
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism, Myoclonus, Intrauterine growth retardation ORPHA:1352
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Hyperpigmented nevi, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Gapo Syndrome
Growth delay, Hyperextensible skin, Short stature, Hypopigmented skin patches ORPHA:2067
Fanconi Anemia, Complementation Group D2
Anemic pallor, Short stature, Abnormality of skin pigmentation, Cafe-au-lait spot, Microphthalmia... OMIM:227646
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Hyperextensible skin, Gait disturbance, Pulmonic stenosis, Soft... ORPHA:90354
Pitt-Hopkins Syndrome
Ataxia, Postnatal growth retardation, Hypopigmented skin patches, Gait ataxia, Growth delay, Seiz... ORPHA:2896
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Seizure OMIM:614526
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Broad-based gait, Bilateral tonic-clonic seizure with generaliz... ORPHA:2072
Barber-Say Syndrome
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency OMIM:209885
Microcephaly-Micromelia Syndrome
Neonatal death, Microphthalmia, Intrauterine growth retardation OMIM:251230
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Intrauterine growth retardation OMIM:603194
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation ORPHA:2399
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Severe short stature, Skin ulcer, Seizure, Sta... ORPHA:2526
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hyper... OMIM:609049
Acrofrontofacionasal Dysostosis
Brushfield spots, Short stature, Hypopigmented skin patches ORPHA:1784
Hellp Syndrome
Elevated hepatic transaminase, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Incr... ORPHA:244242
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Dyspnea, Hypoxemia, Exertional dyspnea, E... ORPHA:199241
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Telangiectasia of the skin, Hypopigmented skin patches ORPHA:302
Beckwith-Wiedemann Syndrome
Hepatomegaly, Redundant skin, Elevated circulating alpha-fetoprotein concentration, Splenomegaly,... ORPHA:116
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Seizure, Cafe-au-lait spot, Short stature, Unilateral microphthalmos OMIM:618874
Focal Dermal Hypoplasia
Acute hepatic failure, Telangiectasia of the skin, Erythema, Hypoplasia of the iris, Abnormality ... ORPHA:2092
Fetal Alcohol Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1915
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hypopigmentation of the skin, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Spondyloenchondrodysplasia With Immune Dysregulation
Purpura, Short stature, Hypermelanotic macule, Pneumonia, Raynaud phenomenon, Hypopigmented skin ... OMIM:607944
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation, Intrauterine growth retardation OMIM:611134
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Unilateral microphthalmos OMIM:615085
Viss Syndrome
Epidural hemorrhage, Short stature, Dyspnea, Asthma, Pneumothorax, Cutis laxa, Hyperextensible sk... OMIM:619472
Carpenter Syndrome 2
Tricuspid regurgitation, Generalized non-motor (absence) seizure, Cutis laxa OMIM:614976
Kapur-Toriello Syndrome
Microphthalmia, Seizure, Intrauterine growth retardation OMIM:244300
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... ORPHA:95455
Oculocerebrocutaneous Syndrome
Seizure, Hypopigmented skin patches ORPHA:1647
Hydrocephalus, Congenital, 3, With Brain Anomalies
Redundant neck skin OMIM:617967
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Tracheomalacia, Postnatal growth retardation, Resp... ORPHA:536467
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Telangiectasia, Choreoathetosis, Microphthalmia, Corneal neovascularization OMIM:278730
Short Stature With Microcephaly And Distinctive Facies
Death in infancy, Severe short stature, Spotty hypopigmentation, Focal impaired awareness seizure... OMIM:615789
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal neovascularization OMIM:305390
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor, Decreased serum iron OMIM:616959
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Short stature, Splenomegaly, Asthma, Chronic pulmonary obstruction, ... ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Death in infancy, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Dea... OMIM:614643
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Short stature, Melanocytic nevus, Multiple cafe-au-lait spot... ORPHA:1969
Pelvis-Shoulder Dysplasia
Microphthalmia, Short stature OMIM:169550
Spinocerebellar Ataxia-Dysmorphism Syndrome
Hyperextensible skin, Short stature ORPHA:1185
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:77298
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... OMIM:225400
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Severe short stature, Rhizomelia, Microphthalmia, Hypotrigly... ORPHA:85167
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Redundant skin, Myocarditis, Disproportionate short stature, Arrhythmia OMIM:250220
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... OMIM:193500
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Prolonged bleeding time, Severe short stature, Hyperextensible skin ORPHA:1901
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Hypopigmented skin... ORPHA:233
Meckel Syndrome 14
Tricuspid regurgitation, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, Hepatic fi... OMIM:619879
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Dyspnea, Mitral regurgitation, Hyperextensible ski... ORPHA:555877
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Waardenburg Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature... ORPHA:3440
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Redundant neck skin, Short stature, Apnea, Rhizomelic leg shorteni... ORPHA:397715
Trichothiodystrophy
Generalized-onset seizure, Bilateral microphthalmos, Gait ataxia, Cardiomyopathy, Numerous pigmen... ORPHA:33364
Loeys-Dietz Syndrome 4
Pneumothorax, Hyperextensible skin, Emphysema, Bruising susceptibility, Striae distensae OMIM:614816
Tuberous Sclerosis Complex
Respiratory distress, Epileptic spasm, Infantile spasms, Focal-onset seizure, Hypertension, Seizu... ORPHA:805
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
C Syndrome
Seizure, Short stature, Redundant skin, Death in infancy ORPHA:1308
Hereditary Acrokeratotic Poikiloderma
Short stature, Telangiectasia of the skin, Erythema, Hypopigmented skin patches, Skin ulcer, Ging... ORPHA:2907
Acrofrontofacionasal Dysostosis 2
Redundant neck skin, Short stature OMIM:239710
Microphthalmia, Lenz Type
Microphthalmia, Seizure, Short stature ORPHA:568
Pallister-Hall Syndrome
Short stature, Seizure, Neonatal death, Microphthalmia, Intrauterine growth retardation OMIM:146510
Lowe Oculocerebrorenal Syndrome
Increased circulating lactate dehydrogenase concentration, Hypercholesterolemia, Elevated circula... OMIM:309000
Acromesomelic Dysplasia 1
Disproportionate short stature, Redundant skin on fingers OMIM:602875
Holoprosencephaly
Hyponatremia, Anophthalmia, Abnormality of the spleen, Respiratory insufficiency, Seizure, Microp... ORPHA:2162
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Ataxia, Hypopi... ORPHA:636
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Junctional ectopic tachycardia, Seizure, Pigmentary retinopathy, Histiocytoid card... OMIM:309801
Mend Syndrome
Redundant neck skin, Short stature, Spotty hypopigmentation, Seizure, Macular hypoplasia, Aortic ... OMIM:300960
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Soft skin, Bruising susceptibility, Hyperextensible skin OMIM:617821
Pelviscapular Dysplasia
Redundant neck skin, Short stature ORPHA:93333
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin OMIM:276300
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia, Seizure ORPHA:251038
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Short stature, Hyperextensible skin, Multiple lentigines, Pulmonic stenosis... OMIM:607721
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Redundant skin ORPHA:2658
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Stromme Syndrome
Accessory spleen, Microphthalmia, Stillbirth, Optic nerve hypoplasia OMIM:243605
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
X-Linked Intellectual Disability, Nascimento Type
Patchy hypo- and hyperpigmentation, Seizure, Pulmonary arterial hypertension, Mitral stenosis, Dr... ORPHA:163956
Dubowitz Syndrome
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Hypocholesterolemia, Microph... OMIM:223370
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Stillbirth, Rhizomelia, Respiratory insufficiency OMIM:616300
Ohdo Syndrome, X-Linked
Microphthalmia, Cafe-au-lait spot, Seizure OMIM:300895
Aicardi Syndrome
Epileptic spasm, Infantile spasms, Postnatal growth retardation, Recurrent pneumonia, Seizure, He... OMIM:304050
Myhre Syndrome
Short stature, Ataxia, Respiratory insufficiency, Birth length less than 3rd percentile, Hyperten... OMIM:139210
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Short stature, Lack of skin elasticity, Hyperpigmentation of the skin ORPHA:90153
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Optic nerve hypoplasia, Azotemia, Intrauterine growth retardation, Hepatic steatos... OMIM:619321
1Q21.1 Microdeletion Syndrome
Microphthalmia, Seizure, Short stature, Intrauterine growth retardation ORPHA:250989
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye ORPHA:91495
Focal Dermal Hypoplasia
Linear hyperpigmentation, Anophthalmia, Short stature, Reticular hyperpigmentation, Telangiectasi... OMIM:305600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Buphthalmos, Seizure,... OMIM:236670
Fanconi Anemia
Short stature, Hypopigmented skin patches, Aplasia/Hypoplasia of the iris, Growth delay, Abnormal... ORPHA:84
Aicardi Syndrome
Abnormality of retinal pigmentation, Infantile spasms, Abnormality of skin pigmentation, Delayed ... ORPHA:50
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Redundant neck skin, Supravalvar pulmonary stenosis, Seizure, Intr... OMIM:618164
Pelvis-Shoulder Dysplasia
Waddling gait, Short stature, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neo... ORPHA:2839
Kyphoscoliotic Ehlers-Danlos Syndrome
Short stature, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Hyperextensible skin, ... ORPHA:536545
Mosaic Trisomy 9
Asplenia, Microphthalmia, Abnormal liver lobulation, Intrauterine growth retardation ORPHA:99776
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Cardiomyopathy, Tracheo... OMIM:217980
Geleophysic Dysplasia 1
Hepatomegaly, Short stature, Tricuspid stenosis, Congestive heart failure, Lack of skin elasticit... OMIM:231050
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure, Redundant nec... ORPHA:254528
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short stature, Ataxia, Focal-onset seizure, Growth delay, Excessive wrinkled skin, Seizure, Hyper... OMIM:619950
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Seizure, Buphthalmos OMIM:310600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema OMIM:221900
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia, Pigmentary retinopathy OMIM:614230
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Short stature OMIM:257850
Momo Syndrome
Seizure, Bilateral microphthalmos, Short stature ORPHA:2563
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Short stature, Seizure, Multiple cafe-au-lait spots, Microphthalmia, Annular pancreas, Intrauteri... OMIM:616975
Autoimmune Polyendocrinopathy Type 2
Hypopigmented skin patches ORPHA:3143
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Short stature, Optic nerve hypoplasia, Hyperextensible skin, Microphthalmia... ORPHA:508498
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Cat Eye Syndrome
Microphthalmia, Short stature, Biliary atresia, Pulmonic stenosis OMIM:115470
Oculodentodigital Dysplasia
Microphthalmia, Arrhythmia, Seizure, Ataxia OMIM:164200
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypopigmented skin patches ORPHA:1295
2Q31.1 Microdeletion Syndrome
Microphthalmia, Seizure, Short stature ORPHA:251014
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Cafe-au-lait spot, Intrauterine growth retardation ORPHA:364577
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Erythema, Hypopigmented skin patches ORPHA:53715
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... OMIM:206900
Cowden Syndrome
Short stature, Ataxia, Hypopigmented skin patches, Melanocytic nevus, Seizure, Multiple cafe-au-l... ORPHA:201
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Growth delay OMIM:120200
Frontonasal Dysplasia 2
Microphthalmia, Intrauterine growth retardation OMIM:613451
Hallermann-Streiff Syndrome
Proportionate short stature, Congestive heart failure, Respiratory insufficiency, Abdominal situs... ORPHA:2108
Wrinkly Skin Syndrome
Short stature, Redundant skin, Neonatal wrinkled skin of hands and feet, Palmoplantar cutis laxa,... OMIM:278250
Rothmund-Thomson Syndrome, Type 2
Short stature, Telangiectasia, Premature graying of hair, Microphthalmia, Annular pancreas OMIM:268400
Trisomy 18
Abnormality of retinal pigmentation, Short stature, Growth delay, Microphthalmia, Intrauterine gr... ORPHA:3380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Elevated circulating creatine kinase concentration, Buphthalmos, Seizure, Hypoplasia of the retin... OMIM:253280
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Short stature, Pulmonary arterial hypertension, Unconjugated hyperbilirubinemia, Prolonged neonat... OMIM:620186
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Postnatal growth retardation, Disproportionate short stature, Areas of hypopigmentation and hyper... OMIM:210720
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Asthma, Short stature, Intrauterine growth retardation ORPHA:2714
Mosaic Trisomy 1
Microphthalmia, Hepatic agenesis ORPHA:1692
Fryns Syndrome
Microphthalmia, Seizure ORPHA:2059
Sotos Syndrome
Bilateral tonic-clonic seizure, Hypercalcemia, Generalized non-motor (absence) seizure, Seizure, ... ORPHA:821
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Focal-onset seizure, Ret... OMIM:175780
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Eec Syndrome
Generalized hypopigmentation, Dry skin, Short stature ORPHA:1896
Autoimmune Polyendocrinopathy Type 1
Hypopigmented skin patches ORPHA:3453
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Teebi-Shaltout Syndrome
Microphthalmia, Aortic valve stenosis, Short stature OMIM:272950
Fryns Syndrome
Ectopic pancreatic tissue, Seizure, Stillbirth, Chylothorax, Polysplenia, Microphthalmia OMIM:229850
Yunis-Varon Syndrome
Redundant neck skin, Short stature, Postnatal growth retardation, Bilateral microphthalmos, Renov... ORPHA:3472
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Seizure, Short stature OMIM:201180
8Q21.11 Microdeletion Syndrome
Microphthalmia, Iris hypopigmentation ORPHA:284160
Frank-Ter Haar Syndrome
Redundant neck skin, Abnormally large globe, Buphthalmos, Growth delay, Cafe-au-lait spot OMIM:249420
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Hypertension, Redundant neck skin, Respiratory distress OMIM:123790
Chromomycosis
Hypopigmented skin patches ORPHA:182
Fanconi Anemia, Complementation Group L
Growth delay, Microphthalmia, Cafe-au-lait spot, Intrauterine growth retardation OMIM:614083
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Dermal translucency, Recurrent intrapulmonary hemorrhage, Short stature, Repeate... OMIM:130050
Leprechaunism
Hepatomegaly, Postnatal growth retardation, Hypokalemia, Hyperextensible skin, Increased circulat... ORPHA:508
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... ORPHA:740
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Dry skin, Redundant skin OMIM:200110
X-Linked Intellectual Disability, Snyder Type
Short stature, Inability to walk, Patchy hypo- and hyperpigmentation, Unsteady gait, Focal motor ... ORPHA:3063
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Microphthalmia, Absent gallbladder OMIM:617925
Chromosome 18P Deletion Syndrome
Redundant neck skin, Short stature OMIM:146390
Phace Association
Microphthalmia, Seizure, Optic nerve hypoplasia OMIM:606519
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Seizure ORPHA:1236
Adams-Oliver Syndrome 1
Hypertension, Pulmonary arterial hypertension, Seizure, Pulmonic stenosis, Microphthalmia, Aortic... OMIM:100300
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Short stature, Growth delay, Seizure, Hyperextensible s... OMIM:617140
Cousin Syndrome
Microphthalmia, Disproportionate short stature, Rhizomelia OMIM:260660
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Seizure, Redundant neck skin OMIM:604314
Jacobsen Syndrome
Microphthalmia, Annular pancreas, Macular hypoplasia, Intrauterine growth retardation OMIM:147791
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Lymphedema-Distichiasis Syndrome
Microphthalmia, Arrhythmia, Chylothorax OMIM:153400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Growth delay, Decreased plasma total carnitine, Decreased serum zinc, Del... ORPHA:79408
Mosaic Trisomy 20
Intrauterine growth retardation, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin ORPHA:1724
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:3412
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Hypertriglyceridemia, Telangiectasia of the skin, Short stat... ORPHA:79474
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia ORPHA:959
Papillon-Lefèvre Syndrome
Liver abscess, Hypopigmented skin patches ORPHA:678
Monosomy 9Q22.3
Microphthalmia, Seizure ORPHA:77301
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia OMIM:615877
Meckel Syndrome
Accessory spleen, Anophthalmia, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancr... ORPHA:564
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Elevated amni... OMIM:249000
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Holoprosencephaly 9
Anophthalmia, Short stature, Optic nerve hypoplasia, Seizure, Microphthalmia OMIM:610829
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Frontorhiny
Microphthalmia ORPHA:391474
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Abnormality of the spleen, Growth delay, Microphthalmia ORPHA:2538
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Bartsocas-Papas Syndrome 1
Microphthalmia, Dry skin, Intrauterine growth retardation OMIM:263650
Pallister-Killian Syndrome
Rhizomelia, Mesomelic/rhizomelic limb shortening, Inability to walk, Hyperpigmented streaks, Grow... OMIM:601803
Costello Syndrome
Redundant neck skin, Short stature, Pneumothorax, Respiratory insufficiency, Respiratory failure,... OMIM:218040
Shprintzen-Goldberg Syndrome
Mitral regurgitation, Hyperextensible skin, Apnea ORPHA:2462
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia With Limb Anomalies
Microphthalmia, Short stature, True anophthalmia, Death in infancy ORPHA:1106
Microphthalmia, Syndromic 2
Anophthalmia, Short stature, Phthisis bulbi, Seizure, Pulmonic stenosis, Microphthalmia, Aortic v... OMIM:300166
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Seizure, Microphthalmia, Heterochromia iridis ORPHA:42775
Charge Syndrome
Anophthalmia, Short stature, Postnatal growth retardation, Respiratory insufficiency, Delayed pub... ORPHA:138
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Optic nerve hypoplasia, Bilateral microphthalmos, Seizure, Intrauterine gro... ORPHA:468631
Fibromuscular Dysplasia, Multifocal
Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency OMIM:619329
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Short stature, Focal impaired awareness seizure OMIM:259770
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Short stature, Focal-onset seizure, Typical absence seizure, Soft skin, Intr... OMIM:617157
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Se... OMIM:612474
Roberts Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation ORPHA:3103
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Microphthalmia ORPHA:268249
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Seizure, Short stature OMIM:616734
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral regurgitation, Hyperex... ORPHA:287
Renpenning Syndrome 1
Microphthalmia, Seizure, Short stature, Death in childhood OMIM:309500
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Cafe-au-lait spot, Intrauterine growth retardation OMIM:608670
Shprintzen-Goldberg Craniosynostosis Syndrome
Hyperextensible skin OMIM:182212
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Hyperextensible skin, Short stature ORPHA:1974
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Monosomy 9P
Microphthalmia, Seizure ORPHA:261112
Treacher-Collins Syndrome
Microphthalmia, Respiratory insufficiency ORPHA:861
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Soft, doughy skin, Mitral regurgitation, Hyperextensible skin, Severe short stature OMIM:271640
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Seizure OMIM:610828
Neu-Laxova Syndrome 1
Neonatal death, Microphthalmia, Stillbirth, Intrauterine growth retardation OMIM:256520
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Pneumothorax, Mitral regurgitation, Hyperextensibl... OMIM:601776
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Infancy onset short-trunk short stature, Short... ORPHA:508488
Fraser Syndrome 2
Microphthalmia, Respiratory failure OMIM:617666
Charge Syndrome
Anophthalmia, Postnatal growth retardation, Unilateral microphthalmos, Hypocalcemia, Pulmonic ste... OMIM:214800
Okamoto Syndrome
Redundant neck skin, Abnormally large globe, Splenomegaly, Severe postnatal growth retardation, A... ORPHA:2729
Isolated Arrhinia
Respiratory distress, Microphthalmia ORPHA:1134
Kosaki Overgrowth Syndrome
Hyperextensible skin OMIM:616592
Witteveen-Kolk Syndrome
Short stature, Intracranial hemorrhage, Growth delay, Seizure, Microphthalmia, Intrauterine growt... OMIM:613406
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Generalized hypopigmentation, Fair hair, Blue irides OMIM:604292
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Steinfeld Syndrome
Microphthalmia, Absent gallbladder OMIM:184705
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Generalized hypopigmentation, Fair hair, Blue irides OMIM:129900
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Postnatal growth retardation, Biliary tract abnormality, Stillbirth, Severe int... OMIM:268300
Monosomy 13Q14
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1587
Branchiooculofacial Syndrome
Anophthalmia, Postnatal growth retardation, Premature graying of hair, Seizure, White forelock, M... OMIM:113620
Hydrolethalus Syndrome 1
Accessory spleen, Microphthalmia, Stillbirth, Intrauterine growth retardation OMIM:236680
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Neuroocular Syndrome
Hypoplasia of the fovea, Short stature, Brushfield spots, Lens coloboma, Blue irides, Microphthal... OMIM:619539
Tetragametic Chimerism
Hypopigmented skin patches ORPHA:199310
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Absent gallbladder ORPHA:3186
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Hyperextensible skin, Short stature OMIM:130070
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Mowat-Wilson Syndrome
Broad-based gait, Short stature, Ataxia, Asplenia, Focal-onset seizure, Inability to walk, Growth... ORPHA:2152
Kindler Syndrome
Spotty hyperpigmentation, Telangiectasia of the skin, Spotty hypopigmentation OMIM:173650
Gabriele-De Vries Syndrome
Waddling gait, Intrauterine growth retardation, Hyperextensible skin ORPHA:506358
Holoprosencephaly 1
Microphthalmia, Seizure, Short stature OMIM:236100
Down Syndrome
Brushfield spots, Redundant neck skin, Short stature OMIM:190685
Pallister-Hall Syndrome
Short stature, Respiratory insufficiency, Microphthalmia, Intrauterine growth retardation, Focal ... ORPHA:672
Chromosome 13Q14 Deletion Syndrome
Growth delay, Microphthalmia OMIM:613884
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Short stature, Asplenia, Focal-onset seizure, Inability to walk, Hyphema, Seizu... ORPHA:261552
Mowat-Wilson Syndrome
Microphthalmia, Seizure, Short stature, Pulmonic stenosis OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Short stature, Asplenia, Focal-onset seizure, Inability to walk, Seizure, Pulmo... ORPHA:261537
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Seizure, Delayed puberty, Microphthalmia ORPHA:649
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Fraser Syndrome
Microphthalmia, Anophthalmia, Death in infancy ORPHA:2052
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Multiple Osteochondromas
Pneumothorax, Short stature, Hemothorax ORPHA:321
Fraser Syndrome 1
Seizure, Anophthalmia, Bilateral microphthalmos OMIM:219000
Tetraamelia Syndrome 1
Asplenia, Microphthalmia OMIM:273395
Hypermobile Ehlers-Danlos Syndrome
Soft skin, Arrhythmia, Hyperextensible skin, Apnea ORPHA:285
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Holoprosencephaly 2
Microphthalmia, Seizure OMIM:157170
Yunis-Varon Syndrome
Redundant neck skin, Heart murmur, Growth delay, Cardiomyopathy, Birth length less than 3rd perce... OMIM:216340
Townes-Brocks Syndrome
Microphthalmia, Short stature, Delayed puberty ORPHA:857
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Microphthalmia, Syndromic 1
Growth delay, Microphthalmia, Anophthalmia, Seizure OMIM:309800
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Lacrimoauriculodentodigital Syndrome 1
Hyperextensible skin OMIM:149730

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Atox1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atox1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Endothelial Antioxidant-1: a Key Mediator of Copper-dependent Wound Healing in vivo. Scientific reports (September 2016) Atox1tm1c(EUCOMM)Hmgu Atox1tm1a(EUCOMM)Hmgu PMC5036036

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Atox1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atox1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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