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 |