Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Griscelli Syndrome, Type 1 |
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Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Insulinomatosis And Diabetes Mellitus |
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Impaired glucose tolerance, Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell ade... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Waardenburg Syndrome, Type 2F |
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Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Dyschromatosis Universalis Hereditaria |
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Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Albinism, Oculocutaneous, Type Iii |
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Red hair, Partial albinism, Albinism |
OMIM:203290 |
Dilution, Pigmentary |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Monocarboxylate Transporter 1 Deficiency |
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Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
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Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Homozygous 11P15-P14 Deletion Syndrome |
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Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria |
OMIM:606528 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
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Abnormality of skin pigmentation, Cataract |
OMIM:300719 |
Oculocutaneous Albinism, Type Viii |
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Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of hair, Hypopigmentatio... |
OMIM:619165 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pan... |
ORPHA:79644 |
Microphthalmia, Isolated, With Cataract 1 |
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Microphthalmia, Cataract |
OMIM:156850 |
Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Griscelli Syndrome Type 3 |
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Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Albinism, Oculocutaneous, Type Ib |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
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Generalized hyperpigmentation, Cataract |
ORPHA:2253 |
Waardenburg Syndrome, Type 2A |
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White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
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Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Albinism, Oculocutaneous, Type Ii |
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Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Griscelli Syndrome, Type 2 |
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Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin... |
ORPHA:35878 |
Albinism, Oculocutaneous, Type Vi |
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Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Autism, Susceptibility To, 3 |
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Ketonuria, Increased serum serotonin |
OMIM:608049 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Mediosternal Depigmentation Line |
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Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
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Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... |
OMIM:601706 |
Raindrop Hypopigmentation |
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Hypopigmentation of the skin |
OMIM:179500 |
Obesity And Hypopigmentation |
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Red hair, Hyperinsulinemia |
OMIM:620195 |
Homocarnosinosis |
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Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria |
OMIM:236130 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia, Hyperpigmentation of the skin |
OMIM:609197 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
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Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
Cataract 9, Multiple Types |
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Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Insulin Autoimmune Syndrome |
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Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Gemignani Syndrome |
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Hypoplasia of penis, Hypopigmented skin patches, Delayed puberty |
ORPHA:2074 |
Cataract 11, Multiple Types |
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Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
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Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria, Hypoglyc... |
OMIM:210200 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
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Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
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Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... |
ORPHA:89838 |
Microphthalmia, Isolated, With Coloboma 3 |
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Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Lacticaciduria, Elevated urine a... |
OMIM:615751 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Premature graying of hair, Hypopigmentat... |
ORPHA:33445 |
Oculocerebral Syndrome With Hypopigmentation |
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Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Waardenburg Syndrome, Type 4B |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
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Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hypoglycemia, Renal steatosis, Fasting hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
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Alopecia, Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria |
OMIM:210210 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Cataract, Abnormal fingernail morphology |
ORPHA:2278 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Macular hypoplasia, Blue irides, Albinism |
OMIM:606574 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Microphthalmia, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Hyperinsulinemia... |
ORPHA:791 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... |
OMIM:619355 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
Anonychia With Flexural Pigmentation |
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Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hy... |
OMIM:262190 |
Phenylketonuria |
|
Cataract, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvic acid level, B... |
OMIM:261600 |
Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Woolly Hair |
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Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... |
ORPHA:170 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Delayed puberty, ... |
ORPHA:1816 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Ichthyosis, Split Hairs, And Amino Aciduria |
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Abnormal hair morphology, Aminoaciduria |
OMIM:242550 |
Methylmalonyl-Coa Epimerase Deficiency |
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Ketonuria, Methylmalonic aciduria |
OMIM:251120 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria, C... |
OMIM:620089 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Ketonuria |
ORPHA:35706 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp... |
ORPHA:276580 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Abnormality of the kidney, Hypopigmented skin patches, Premature grayin... |
ORPHA:895 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma |
OMIM:616428 |
Galactosemia Ii |
|
Galactosuria, Cataract |
OMIM:230200 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... |
ORPHA:3437 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria |
OMIM:268700 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Hypogonadism |
ORPHA:2528 |
Richards-Rundle Syndrome |
|
Ketonuria, Hypergonadotropic hypogonadism |
ORPHA:1399 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Alopecia, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Low anterior hairline, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Iris hypop... |
ORPHA:177910 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria, Small nail |
OMIM:614520 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Ketonuria, Hypoglycemia |
OMIM:615453 |
Glutaric Acidemia I |
|
Glutaric aciduria, Ketonuria, Hypoglycemia |
OMIM:231670 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Hyperinsulinemia, ... |
ORPHA:3085 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:35612 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins... |
ORPHA:276575 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy... |
ORPHA:3143 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Hematuria, Microphthalmia, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Stimmler Syndrome |
|
Aminoaciduria, Type II diabetes mellitus |
ORPHA:3199 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, White hair, Blue irides |
OMIM:250900 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Mody |
|
Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli... |
ORPHA:552 |
Galactokinase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increased level of gala... |
ORPHA:79237 |
Xeroderma Pigmentosum Variant |
|
Keratitis, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the ... |
ORPHA:90342 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... |
ORPHA:2251 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
ORPHA:42062 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1574 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris... |
ORPHA:352731 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Cataract, Corneal opacity, Hypermelanotic macule, Abnormal hair morp... |
ORPHA:317 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Microphthalmia, Cataract, Abnormality of retinal pigmentation |
OMIM:251270 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Cataract, Adrenal hyperplasia, Abnormal fingernail morphology, Prim... |
ORPHA:3453 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Premature thelarche, Myoglobinuria, Hypothyroidism, Premature pubarche |
OMIM:616878 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Hypothyroidism |
OMIM:251900 |
Mandibuloacral Dysplasia |
|
Alopecia, Abnormally large globe, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:2457 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Hypothyr... |
ORPHA:2118 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Methylmalonic Aciduria, Cbla Type |
|
Elevated urine 2-methylcitric acid level, Ketonuria, Elevated urine 3-hydroxypropionic acid level... |
OMIM:251100 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigm... |
ORPHA:79431 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... |
ORPHA:573 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hypoglycemia, Microcornea, Long eyelashes, Microphthalmia |
ORPHA:48431 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Cataract, Retinal pigment epithelial mottling, Methylmalo... |
OMIM:614105 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Cataract, Impaired glucose tolerance, Glucose intolerance, Hyperpigmentation o... |
OMIM:606069 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Ketonuria, Hypoglycemia |
ORPHA:134 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, 3-Methylglutaconic aciduria, Hypoglycemia, Iris hypopigmentation |
ORPHA:67048 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Abnormality... |
ORPHA:1806 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Proteinuria, Abnormal circulating leptin concentration, Insulin resistance, Fasting hyp... |
ORPHA:2298 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism, Ketonuria, Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Lacticaciduria |
OMIM:619167 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Bone spicule pigmentation of the retina, Cataract |
OMIM:611040 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... |
OMIM:129500 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Megalocornea |
|
Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris transillumination d... |
OMIM:309300 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce... |
ORPHA:417 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Diabetes mellitus, Hypopigmentation of the skin |
OMIM:615980 |
Cofs Syndrome |
|
Hypogonadism, Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:1466 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, 3-Methylglutaric aciduria, Ketonuria, Recurrent hypoglycemia |
ORPHA:20 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic ki... |
OMIM:608612 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Hyperinsulinemia, Glycosuria, Renal Fanconi syndrome, Pancreatic islet-cell hyperpla... |
ORPHA:263455 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of secondary sex... |
ORPHA:785 |
Donohue Syndrome |
|
Hypermelanotic macule, Precocious puberty, Long penis, Hyperinsulinemia, Pancreatic islet-cell hy... |
OMIM:246200 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Cataract |
ORPHA:79238 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Hyperpigmentation of the ... |
OMIM:607398 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Hemolytic-uremic syndrome, Methylma... |
ORPHA:79282 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... |
OMIM:148820 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Precocious ... |
ORPHA:79414 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... |
ORPHA:276556 |
Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria |
OMIM:251110 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Homocystinuria, Ectopia lentis, Methioninuria, Lens subluxation, Hypopigmentation o... |
OMIM:236200 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Ocular al... |
OMIM:203300 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin |
ORPHA:79254 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T... |
ORPHA:290 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616171 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Biemond Syndrome Type 2 |
|
Hypospadias, Hypogonadotropic hypogonadism, Hypogonadism, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria |
OMIM:274270 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Fair hair, Hypopigmentation of the skin |
OMIM:269920 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Fanconi Anemia, Complementation Group G |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:614082 |
Alstrom Syndrome |
|
Renal insufficiency, Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormo... |
OMIM:203800 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... |
ORPHA:69076 |
Perlman Syndrome |
|
Hypoplasia of penis, Hyperinsulinemia, Nephroblastoma |
ORPHA:2849 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma |
OMIM:300915 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract |
ORPHA:324416 |
Porphyria Cutanea Tarda |
|
Diabetes mellitus, Hirsutism, Stage 5 chronic kidney disease, Corneal scarring, Porphyrinuria, In... |
ORPHA:101330 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A... |
ORPHA:1867 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Microphthalmia, Toenail dysplasia |
OMIM:615297 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormality of the upper urinary tract, Highly arched eyebrow, Abnormal h... |
ORPHA:1807 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Generalized hirsutism |
ORPHA:363400 |
Warburg Micro Syndrome 1 |
|
Developmental cataract, Microcornea, Facial hypertrichosis, Microphthalmia, Hypertrichosis |
OMIM:600118 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Microphthalmia, Generalized hypopigmentation |
OMIM:617306 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Microphthalmia, Iris c... |
ORPHA:195 |
Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:609054 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Developmental cataract, Sparse hair, Microphthalmia, Micropenis |
OMIM:610756 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Thick hair, Onychauxis, Precocious puberty, ... |
ORPHA:769 |
Acquired Generalized Lipodystrophy |
|
Generalized hyperpigmentation, Proteinuria, Insulin-resistant diabetes mellitus, Insulin resistan... |
ORPHA:79086 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hair, Microcorn... |
OMIM:234050 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Increased urinary glycerol, Ketonuria, Cataract |
ORPHA:247598 |
Rodrigues Blindness |
|
Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia |
OMIM:268320 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Hypopigmentation of hair, Cafe-au-lait spot, Hypo... |
OMIM:618541 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Nail dysplasia, Microphthalmia, Abnormality of... |
ORPHA:139471 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Low anter... |
ORPHA:528 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hyperthreoninuria, Cataract, Pigmentary retinopathy |
OMIM:204000 |
Porphyria Variegata |
|
Neurogenic bladder, Chronic kidney disease, Hypertrichosis, Porphyrinuria, Increased urinary porp... |
ORPHA:79473 |
Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Hypopigmentation of the skin, Low posterior hairline |
ORPHA:261519 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hypoglycemia |
ORPHA:6 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cataract, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia, Cataract, Iris coloboma |
OMIM:300337 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Hypop... |
OMIM:219800 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Hypogonadism |
OMIM:601794 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Lacticaciduria, Aminoaciduria, Adrenal insufficiency |
OMIM:619386 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Freckling, Brittle hair, Trichoschisis, Fine hair, Microcornea, Keratoconjunctivitis si... |
OMIM:601675 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches, Abnormal localization of kidney, Delayed puberty |
ORPHA:1825 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... |
OMIM:203780 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia |
ORPHA:35 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal hair morphology, Aminoaciduria, Cataract, Subcapsular cataract |
ORPHA:414 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Hypogonadism |
ORPHA:363741 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... |
ORPHA:69087 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hypoglycemia |
ORPHA:664 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c... |
ORPHA:453533 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Sparse lateral eyebrow, Cataract |
OMIM:619694 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... |
ORPHA:230 |
Hawkinsinuria |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria,... |
OMIM:140350 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Scorpion Envenomation |
|
Ketonuria, Glycosuria, Hyperglycemia, Acute kidney injury, Mydriasis |
ORPHA:466677 |
Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom... |
OMIM:120330 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Mi... |
ORPHA:35173 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Pigmentary retinopathy, H... |
ORPHA:71212 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Hypopla... |
OMIM:611584 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Ectopia lentis |
ORPHA:833 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Microphthalmia, Cataract, Hypertrichosis |
OMIM:612379 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Macular hypoplasia, Albinism |
OMIM:614075 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria, Hypoglycemia |
OMIM:614741 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma |
ORPHA:231736 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Alopecia, Corneal opacity, Precocious puberty, Horseshoe kidney, Hypopigmentat... |
OMIM:163200 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia |
ORPHA:79159 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Ureteral atresia, Renal tubular acidosis, Hypopigm... |
ORPHA:1493 |
Galactosemia I |
|
Cataract, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Galactosuria, Increased lev... |
OMIM:230400 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Alopecia, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral ref... |
ORPHA:85284 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria |
OMIM:230350 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia, High anterior hairline |
ORPHA:487825 |
Alg3-Cdg |
|
Abnormality of the endocrine system, Cataract, Hypopigmentation of the skin |
ORPHA:79321 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low posterior hairline, Mi... |
ORPHA:85194 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia, Micropenis, High anterior hairline |
OMIM:602342 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
OMIM:176270 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Abnormality of the bladder, Hematuria, Fine hair, Sparse hair |
ORPHA:1839 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin |
OMIM:309400 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microph... |
OMIM:610125 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albi... |
OMIM:614077 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Hypopigmentation of hair, Partial albinism, Cataract, Ocular albinism, Melan... |
ORPHA:79430 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal renal tubule morphology, Cataract, White hair, Ocular albinism, Generalized hypopigmenta... |
ORPHA:2720 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Cataract, Non-acidotic proximal tubulopathy,... |
ORPHA:1652 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Corneal opacity, Nephrogenic diabetes insipidus, Renal tubular ... |
ORPHA:213 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Renal ne... |
ORPHA:79474 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Diabetes mellitus, Cataract |
OMIM:601811 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Aciduria |
OMIM:617950 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Cataract, Abnormal fingernail morphology, Hypoplastic to... |
ORPHA:2930 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Cataract, Female hypogonadism, Decreased circulating parathyroid ho... |
OMIM:240300 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Decreased response t... |
ORPHA:98754 |
Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail |
ORPHA:2584 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,... |
OMIM:616026 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Conjunctivitis, Abnormality of the nail |
ORPHA:254478 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria |
OMIM:255100 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:212550 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Cataract, Corneal opacity, Low anterior hairline |
OMIM:613153 |
Hartnup Disease |
|
Abnormal urinary color, Irregular hyperpigmentation, Hypopigmented skin patches, Neutral hyperami... |
ORPHA:2116 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Absent inner eyelashes, Limbal dermoid, Microphthalmia, ... |
ORPHA:1791 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Hypoglycemia, Highly arched eyebrow, Low anterior hairline, Hyperglycemia... |
OMIM:220111 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Decreased response t... |
ORPHA:98793 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Onycholysis, Pterygium |
ORPHA:525 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Gracile Syndrome |
|
Aminoaciduria |
OMIM:603358 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Tyrosinemia, Type Ii |
|
Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria, Herpetiform corneal ulceration |
OMIM:276600 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Hypoplasia of the iris, ... |
OMIM:251300 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Decreased response t... |
ORPHA:177904 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Ridged nail, Alopecia, Cataract, Supernumerary nipple, Keratitis, Nail p... |
OMIM:308300 |
Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:158029 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Decreased response t... |
ORPHA:177901 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Alopecia, Anophthalmia |
OMIM:164180 |
Vitreoretinochoroidopathy |
|
Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinopathy, Microphthalmia |
OMIM:193220 |
Lissencephaly 8 |
|
Microphthalmia, Cataract |
OMIM:617255 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi... |
ORPHA:634 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyp... |
OMIM:248370 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methylglutaric acid... |
OMIM:246450 |
Argininosuccinic Aciduria |
|
Abnormal hair quantity, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa |
ORPHA:23 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Insulin resistance, Cataract, Hirsutism |
OMIM:214150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, ... |
ORPHA:398079 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic ... |
OMIM:618373 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Hypospadias, Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... |
OMIM:615877 |
Al-Raqad Syndrome |
|
Hypopigmentation of the skin |
OMIM:616459 |
D-Lactic Aciduria With Gout |
|
Aniridia, Lacticaciduria |
OMIM:245450 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Hypopigmented skin patches |
ORPHA:3239 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior... |
OMIM:221900 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Abnormal renal mor... |
OMIM:609053 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract |
ORPHA:1381 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Red urine, Corneal scarring, Conjunctivitis, Hypopig... |
OMIM:263700 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... |
ORPHA:381 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Multiple lentigines, Pheoch... |
OMIM:160980 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Warburg Micro Syndrome 3 |
|
Cataract, Low anterior hairline, Developmental cataract, Microcornea, Shallow anterior chamber, M... |
OMIM:614222 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... |
ORPHA:2547 |
Lipoyltransferase 1 Deficiency |
|
Alaninuria, Hyperglutaminuria, Lacticaciduria |
OMIM:616299 |
Riboflavin Deficiency |
|
Dicarboxylic aciduria, Hypoglycemia |
OMIM:615026 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Hirsutism, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia |
OMIM:152950 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Cataract, ... |
ORPHA:2715 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Developmental cataract, Small nail, Microphthalmia |
OMIM:614219 |
Trichothiodystrophy 3, Photosensitive |
|
Brittle hair, Cataract, Developmental cataract, Microphthalmia, Tiger tail banding, Trichorrhexis... |
OMIM:616395 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
Localized Epidermolysis Bullosa Simplex |
|
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Ma... |
OMIM:214500 |
Trisomy 13 |
|
Anophthalmia, Cataract, Abnormal eyelash morphology, Abnormality of the ureter, Aplasia/Hypoplasi... |
ORPHA:3378 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Alopecia, Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microph... |
OMIM:613001 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria |
ORPHA:79246 |
Acute Radiation Syndrome |
|
Cataract, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:454831 |
Slc35A2-Cdg |
|
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Abnormal rena... |
ORPHA:356961 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj... |
OMIM:612843 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney |
OMIM:613885 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair |
OMIM:273400 |
Temtamy Syndrome |
|
Highly arched eyebrow, Ectopia lentis, Lens luxation, Microphthalmia, Iris coloboma |
OMIM:218340 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Bilateral m... |
ORPHA:2399 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Widow's peak, Cataract |
OMIM:136760 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... |
ORPHA:91495 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Epidermal Nevus Syndrome |
|
Astigmatism, Hypopigmentation of the skin, Polycystic kidney dysplasia, Hyperpigmentation of the ... |
ORPHA:35125 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Bone spicule pigmentation of the retina, Cataract, Astigmatism, Hyperglycemia |
OMIM:615986 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Freckling, Conjunctivitis, Hypopigmentation of the skin |
OMIM:278720 |
Atelis Syndrome 2 |
|
Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia,... |
OMIM:620185 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal localization of kidn... |
ORPHA:2510 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, Generalized ami... |
ORPHA:2088 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Warburg Micro Syndrome 4 |
|
Low anterior hairline, Developmental cataract, Microcornea, Microphthalmia, Micropenis, Hirsutism |
OMIM:615663 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Freckling, Pigmentary retinopathy, Hypogonadism, Microphthalmia |
OMIM:610651 |
Dowling-Degos Disease |
|
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79145 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Hypospadias, Microcornea, Microphthalmia, Irregular hyperpigmentation, Generalized hirsutism |
ORPHA:2505 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:858 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1777 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Nail dystrophy, Highly arched eyebrow |
OMIM:300887 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Peters anomaly, Vesicoureteral reflux, Microphthalmia |
OMIM:120200 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Cataract, Diabetes mellitus, Diabetes insipidus, Pigmentary reti... |
OMIM:222300 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Horseshoe kidney, Low posterior hairline... |
OMIM:300860 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Nail dysplasia, Microphthalmia |
ORPHA:773 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Renal cyst, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes... |
ORPHA:739 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Stage 5 chr... |
OMIM:308940 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h... |
OMIM:612109 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Astigmatism, Peters anomaly, Vesicoureteral reflux, Microphthalmia, Iris coloboma, B... |
ORPHA:494344 |
Tyrosinemia, Type Iii |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria |
OMIM:276710 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Leprechaunism |
|
Facial hypertrichosis, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Central ... |
ORPHA:508 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria |
OMIM:617184 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Developmental c... |
OMIM:231680 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Blue irides |
OMIM:105830 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Corneal opacity, Isosexual precocious puberty |
ORPHA:2788 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Microphthalmia, Sparse... |
OMIM:618804 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria |
OMIM:619003 |
Crouzon Syndrome |
|
Iris coloboma, Conjunctivitis, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:207 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Cataract, Proteinuria, Diabetes mellitus, Cor... |
ORPHA:33001 |
Hepatoerythropoietic Porphyria |
|
Scarring alopecia of scalp, Loss of eyelashes, Red urine, Red-brown urine, Keratoconjunctivitis, ... |
ORPHA:95159 |
Incontinentia Pigmenti |
|
Alopecia, Cataract, Corneal opacity, Abnormal fingernail morphology, Supernumerary nipple, Hypopl... |
ORPHA:464 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Streak ovary, Decreased response to growth ... |
ORPHA:3464 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Warburg Micro Syndrome 2 |
|
Cataract, Low anterior hairline, Developmental cataract, Microcornea, Microphthalmia, Micropenis |
OMIM:614225 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Elevated urinary 7-biopterin level |
OMIM:264070 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Bone spicule pigmentation of the retina, Cataract, Stage 5 chronic kidney disease, Renal Fanconi ... |
OMIM:268315 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Premature pubarche, Precocious puberty, Absence of pubertal development... |
ORPHA:398069 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hypospadias, Hypopigmented skin patches, Cafe-au-lait spot, Neonatal hypoglycemia |
ORPHA:457485 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Type II diabetes mellitus |
ORPHA:3191 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Corneal crystals, Abnormal tubulointerstiti... |
ORPHA:411629 |
Angelman Syndrome |
|
Keratoconus, Precocious puberty in females, Astigmatism, Delayed menarche, Fair hair, Hypopigment... |
ORPHA:72 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu... |
OMIM:613404 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Absent eyebrow, Sparse eyelashes |
OMIM:613456 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Corneal opacity, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized ... |
ORPHA:79396 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Generalized hirsutism, Methylmalonic aciduria |
ORPHA:1933 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Catarac... |
OMIM:609049 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Oligosacchariduria |
ORPHA:163649 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Hyperpigmented nevi, Bilateral microphthalmos, Abnormal hair morphology, Optic nerve hypoplasia |
OMIM:607597 |
Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Albinism, Ocular albinism, Developmental cataract, Abnormal t... |
OMIM:242840 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches |
ORPHA:2875 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Nephroblastoma |
OMIM:602501 |
Dermotrichic Syndrome |
|
Aminoaciduria, Nail dystrophy, Hyperconvex toenail |
ORPHA:99688 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Microphthalmia, Conjunctival hyperemia, Widow's peak |
OMIM:167730 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Decreased response to growth hormone stimulation test, Ureterocele, Vesicoureteral reflux, Microp... |
OMIM:604292 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Diabetes mellitus |
OMIM:249270 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Cafe... |
OMIM:618874 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Microphthalmia, Iris coloboma |
ORPHA:77298 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Synophrys, Hypopigmented skin patches, Aplast... |
ORPHA:1295 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Corneal opacity, Cataract, Increased urinary O-... |
ORPHA:812 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria |
OMIM:619063 |
Mosaic Trisomy 8 |
|
Corneal opacity, Hypopigmented skin patches, Vesicoureteral reflux, Hypopigmentation of the skin,... |
ORPHA:96061 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Nephropathy, Anonychia, Hypothyroidism, Genera... |
ORPHA:1563 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Joubert Syndrome 22 |
|
Microphthalmia, Renal hypoplasia |
OMIM:615665 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Micropenis, Abnormality of the subungual region, Developmental cataract |
ORPHA:335 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hyperglycemia, ... |
OMIM:151660 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Nephropathy, Cataract, Abnormal circulating calcium-phosphate regulating horm... |
ORPHA:2238 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Ruvalcaba Syndrome |
|
Hypopigmented skin patches, Abnormal localization of kidney, Hematuria, Delayed puberty, Generali... |
ORPHA:3121 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoacidur... |
ORPHA:534 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level |
OMIM:146200 |
Joubert Syndrome 37 |
|
Sparse hair, Microphthalmia, Micropenis, Hydronephrosis |
OMIM:619185 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Nephropathy, Hypertrichosis |
OMIM:247410 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypopigmentation of the skin, Alopecia totalis, Developmental cataract, Sparse or absent eyelashe... |
ORPHA:221008 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia, Hirsutism |
OMIM:613327 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Cataract, Diabetes mellitus, Hypermelanotic macule, Abnorm... |
ORPHA:1775 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Cataract, Hypospadias, Hypopigmented skin patches |
ORPHA:2115 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Cataract, Sparse eyelashes, Sparse scalp hair, Absent eyelashes, Sparse... |
OMIM:268400 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Slow-growing hair, Renal hypo... |
ORPHA:1896 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Oculofaciocardiodental Syndrome |
|
Cataract, Highly arched eyebrow, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Ifap Syndrome 2 |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair |
OMIM:619016 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria |
OMIM:245400 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Highly arched eyebrow |
OMIM:614583 |
Pontocerebellar Hypoplasia, Type 7 |
|
Micropenis, Hypopigmentation of the skin, Hirsutism, Synophrys |
OMIM:614969 |
Bloom Syndrome |
|
Spotty hypopigmentation, Type II diabetes mellitus, Cafe-au-lait spot, Hypopigmentation of the sk... |
OMIM:210900 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Pigmentary retinopathy, Aminoaciduria,... |
ORPHA:436271 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea |
ORPHA:370959 |
Monosomy 18P |
|
Microphthalmia, Alopecia, Hypothyroidism, Low posterior hairline |
ORPHA:1598 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Alopecia, Hypogonadism, Fine hair |
ORPHA:228390 |
Acrofrontofacionasal Dysostosis |
|
Hypospadias, Brushfield spots, Hypopigmented skin patches, Anonychia, Aplasia/Hypoplasia of the e... |
ORPHA:1784 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Thick eyebrow |
OMIM:301018 |
Baraitser-Winter Syndrome 1 |
|
Highly arched eyebrow, Low posterior hairline, Microphthalmia, Micropenis, Iris coloboma |
OMIM:243310 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Abnormality of the ureter, Aminoaciduria, Abnormal toenail morphology, ... |
ORPHA:30 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail... |
ORPHA:2909 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Leigh Syndrome |
|
Alopecia, Cataract, Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoacidur... |
ORPHA:506 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Cataract, Abnormally large globe |
OMIM:615249 |
Bloom Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Sparse eyelashes, Insulin resistance, Paro... |
ORPHA:125 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Hypermelanotic macule, Keratitis, Hypopigmented ... |
ORPHA:910 |
Kapur-Toriello Syndrome |
|
Cataract, Low posterior hairline, Abnormality of the urinary system, Microphthalmia, Micropenis, ... |
OMIM:244300 |
Fanconi Anemia, Complementation Group S |
|
Sparse hair, Microphthalmia, Long eyelashes, Low anterior hairline |
OMIM:617883 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Melanocytic nevus, Microphthalmia, Irregular hyperpigmentation, Iris coloboma |
ORPHA:2612 |
Congenital Erythropoietic Porphyria |
|
Scarring alopecia of scalp, Loss of eyelashes, Red-brown urine, Porphyrinuria, Keratoconjunctivit... |
ORPHA:79277 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Peters a... |
OMIM:243605 |
3Q29 Microdeletion Syndrome |
|
Cataract, Hypospadias, Horseshoe kidney, Abnormality of skin pigmentation, Microphthalmia |
ORPHA:65286 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Synophrys |
ORPHA:261272 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation |
ORPHA:284160 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Hypospadias, Microcornea, Sparse hair, Microphthalmia, Hydronephrosis |
OMIM:616449 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Astigmatism, Horizontal eyebrow, Microphthalmia, Renal dysplasia |
OMIM:618571 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria |
OMIM:609560 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abn... |
OMIM:227650 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Ectopic kidney, Ab... |
ORPHA:233 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Microcornea, Microphthalmia, Iris c... |
ORPHA:899 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Sparse eyelashes, Fine hair, Microcornea, Persistent pupillary membrane, Sparse hair, M... |
OMIM:257850 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia, Nephrolithiasis, Insulin-resistant d... |
OMIM:608594 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Ureterocele, Sparse hair, Vesicoureteral r... |
OMIM:129900 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris ... |
ORPHA:3301 |
Frontorhiny |
|
Cataract, Widow's peak, Microphthalmia, Hypopituitarism, Diabetes insipidus, Iris coloboma |
ORPHA:391474 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Renal hypoplasia, Cafe-au-lait spot, Micro... |
OMIM:603467 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:618652 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Hor... |
OMIM:600901 |
Intellectual Disability And Myopathy Syndrome |
|
Cafe-au-lait spot, Spotty hypopigmentation |
OMIM:619719 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Hyperpigmented streaks, Thyroid C cell hyperplasia, Sclerocornea |
OMIM:300952 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Abnormality of the kidney, Decreased res... |
ORPHA:177907 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Pigmentary retinopathy, Aminoaciduria,... |
OMIM:220110 |
Martsolf Syndrome 1 |
|
Cataract, Hypogonadotropic hypogonadism, Low anterior hairline, Developmental cataract, Low poste... |
OMIM:212720 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Corneal opacity, Hypopigmented skin patches, Iris coloboma |
ORPHA:1647 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Linear hyperpigmentation, Anophthalmia, Brittle hair, Absent f... |
OMIM:305600 |
Tenorio Syndrome |
|
Hypoglycemia, Enuresis, Keratoconjunctivitis sicca, Hypoinsulinemia, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Hypospadias, Woolly hair, Fine hair, Galactosuria, Sparse hair, General... |
OMIM:222470 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Thick hair, Abnormal eyelash morphology, Low anterior hairli... |
ORPHA:193 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Highly arched eyebrow, Sparse pubic hair, Increased circulating gonadotropin level, Microcornea, ... |
OMIM:110100 |
Adams-Oliver Syndrome |
|
Alopecia, Cataract, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Microphthalmia,... |
ORPHA:974 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patche... |
ORPHA:2067 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Cataract, Renal hypoplasia/aplasia, Microcornea, Microphthalmia, Iris c... |
ORPHA:568 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, High urinary gonadotropin level, Renal hypoplasia/aplas... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, High urinary gonadotropin level, Renal hypoplasia/aplas... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Abnormal fingernail morphology, High urinary gonadotropin level, Renal hypoplasia/aplas... |
ORPHA:99226 |
Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, High urinary gonadotropin level, Renal hypoplasia/aplas... |
ORPHA:881 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Developmental cataract, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... |
ORPHA:221016 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Microphthalmia, Hydrone... |
OMIM:302960 |
Moebius Syndrome |
|
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Abnormality of the nail |
OMIM:157900 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Pigmentary retinopathy, Aminoaciduria, Hypoplasia of the thymus, Poly... |
OMIM:214110 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Hyperinsulinemia, Nephrolithiasis, Insulin-resistant diabetes mellitus at... |
OMIM:269700 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Keratoconjunctivitis, Hematuria, Coarse hair, Nail dystrophy, Opacification o... |
OMIM:158310 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy... |
OMIM:605711 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Alopecia, Corneal opacity, Renal hypoplasia/aplasia, Ectopia lentis... |
ORPHA:2092 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Renal hypoplasia |
OMIM:618914 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Organic aciduria |
OMIM:614707 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Woolly hair, Renal hypoplasia, Hypoplasia of the thymus, ... |
ORPHA:84064 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Organic aciduria, Keratoconjunctivitis |
ORPHA:79242 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Thymoma, Ke... |
OMIM:269200 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos, Low anterior hairline, Frontal upsweep of hair, Horizontal eyebrow, Ocu... |
ORPHA:369891 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Fair hair, Hypospadias, Decreased response to growth hormone ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Fair hair, Hypospadias, Decreased response to growth hormone ... |
ORPHA:363958 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the thyroid gland, Melanocytic nevus, Multipl... |
ORPHA:1969 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Abnormal hair pattern |
ORPHA:2717 |
Steinert Myotonic Dystrophy |
|
Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone... |
ORPHA:273 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Sparse eyebrow, Mucopolysacchariduria, Opacification of the corneal stroma, Sparse ... |
OMIM:252500 |
Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Alopecia, Organic aciduria, 3-hydroxyisovaleric a... |
OMIM:253270 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Precocious puberty, Myopic astigmatism, Synophrys, Hypopigmentation of the skin |
OMIM:301066 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Frontal balding |
ORPHA:1942 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Pigmentary retinopathy, Microphthalmia, Micropenis |
OMIM:614230 |
D-Glyceric Aciduria |
|
Aminoaciduria, Hypoglycemia, Optic nerve hypoplasia, Micropenis |
OMIM:220120 |
Degcags Syndrome |
|
Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Abnormality of skin pigmentation, P... |
OMIM:619488 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber |
OMIM:305390 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair |
OMIM:608233 |
X-Linked Agammaglobulinemia |
|
Alopecia, Conjunctivitis, Hypopigmented skin patches |
ORPHA:47 |
Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Lentiglobus, Renal hypoplasia, Nephrotic syndrome, Abnormal corne... |
ORPHA:191 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Organic aciduria, Long eyelashes |
OMIM:620191 |
Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy... |
ORPHA:678 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia |
ORPHA:2470 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Cataract, Dry hair, Slow-growing hair, Fine hair, Microcornea, Sparse hair, M... |
OMIM:164200 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Cataract, Unilateral renal agenesis, Dry ha... |
ORPHA:90324 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Hor... |
OMIM:227645 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Symblepharon, Trichiasis, Keratitis, Corneal erosion, Renal t... |
ORPHA:95455 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria... |
ORPHA:26791 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Cataract, Abnormal fingernail morpholog... |
ORPHA:2036 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Sclerocornea, Cataract, A... |
OMIM:206900 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Cataract, Renal agenesis, Optic disc hypoplasia, Renal hypoplasia, Horseshoe k... |
OMIM:607323 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Pigmentary retinopathy, Chordee, Peters anomaly, Microphthal... |
OMIM:309801 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Cockayne Syndrome B |
|
Renal insufficiency, Dry hair, Proteinuria, Abnormal hair morphology, Developmental cataract, Hyp... |
OMIM:133540 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Lacticaciduria |
OMIM:618811 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Cataract |
ORPHA:891 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cataract, Hypogonadism, Microphthalmia, Iris coloboma |
ORPHA:2250 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Hypoplasia of penis, Iris coloboma |
ORPHA:2328 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Sparse eyebrow, Synophrys, Microphthalmia, High anterior hairline, Thick ey... |
OMIM:620098 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Abnormality of the kidney, Hypopigmented skin patches, Patchy al... |
ORPHA:90289 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Renal cyst |
OMIM:611561 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Lacticaciduria |
OMIM:618247 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corne... |
ORPHA:636 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polyuria, Primary hyperparathyroidism, Hypercalciuria, Aminoaciduria, Elevated... |
OMIM:239200 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Recurrent urinary tract infections |
OMIM:611961 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Ectopic thyroid, M... |
ORPHA:42775 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Mismatch Repair Cancer Syndrome 1 |
|
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin |
OMIM:276300 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Synophrys, Small nail, Thin eyebrow, Microphthalmia, Cafe-au-lait spot |
ORPHA:364577 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Bilateral microphthalmos,... |
ORPHA:33364 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Cataract, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, M... |
ORPHA:959 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Low anterior hairline, Highly arched eyebrow |
ORPHA:404440 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Developmental cataract, ... |
ORPHA:2108 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa |
OMIM:207900 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Cataract, Corneal opacity, Abnormality of skin pigmentation, Multip... |
ORPHA:1052 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Hypopigmentation of the skin |
OMIM:620237 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Micropenis |
OMIM:602361 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Hypospadias, Sparse eyebrow, Developmental cataract, Microcornea, Male urethra... |
ORPHA:464738 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cataract, Leukocoria, Aplasia/Hypoplasia of the nails |
ORPHA:2714 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Cataract, Rena... |
ORPHA:84 |
Pearson Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Proteinuria, Decreased response to growth horm... |
ORPHA:699 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Proteinuria, Hypoglycemia, Diabetes mellitus, Highly arched ey... |
ORPHA:2162 |
Phace Association |
|
Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Microphthalmia, Lingua... |
OMIM:606519 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypopigmented skin patches, Hematuria, Tubuloin... |
ORPHA:183 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cataract, Hypoglycemia, Brittle hair, Lacticaciduria, Tubulointerstitial nephri... |
OMIM:124000 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair, Microphthalmia |
OMIM:613451 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased... |
OMIM:146510 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Hor... |
OMIM:227646 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... |
OMIM:272950 |
Lymphedema-Distichiasis Syndrome |
|
Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal u... |
OMIM:153400 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad eyebrow, Juvenile cataract, Hypospadias, Cataract, Synophrys, Melanocytic nevus, Hematuria,... |
OMIM:619475 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Ectopia pupillae, Lens subluxation, Microph... |
ORPHA:85167 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal preputium morphology, Abnormality of the urethra, Hypopigmented skin patches, Keratoconj... |
ORPHA:2907 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria |
OMIM:613070 |
Mosaic Trisomy 1 |
|
Hypoplastic thumbnail, Renal cortical cysts, Renal cyst, Opacification of the corneal stroma, Sma... |
ORPHA:1692 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tu... |
OMIM:208085 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Urinary retention, Hypoinsulinemia, Hypoglycemia |
ORPHA:2126 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Generalized hirsutism |
ORPHA:1915 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Peters anomaly, Microphthalmia, M... |
OMIM:236670 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Ureteral agen... |
OMIM:617666 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Marden-Walker Syndrome |
|
Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia |
OMIM:248700 |
Joubert Syndrome 14 |
|
Highly arched eyebrow, Microphthalmia, Renal cyst |
OMIM:614424 |
Chromomycosis |
|
Keratitis, Keratoconjunctivitis sicca, Hypopigmented skin patches |
ORPHA:182 |
Sarcoidosis |
|
Renal insufficiency, Cataract, Hyperthyroidism, Diabetes insipidus, Alopecia, Hypothyroidism, Nep... |
ORPHA:797 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Corneal opacity, Horseshoe kidney, Multiple renal cysts, Sm... |
ORPHA:99776 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Vesicoureteral reflux, Microphthalmia... |
ORPHA:2059 |
Microphthalmia With Limb Anomalies |
|
Abnormal eyelash morphology, Microphthalmia, Anophthalmia |
OMIM:206920 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Abnormality of the upper urinary tract, Microcorne... |
ORPHA:3380 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Anophthalmia, Hypospadias, Cornea... |
ORPHA:2556 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Cataract, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Microphtha... |
OMIM:234100 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Long eyebrows, Widow's peak, Long eyelashes, Small nail, Microphthalmia |
OMIM:201180 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Ectopic kidney, Absent eyelashes, ... |
OMIM:263650 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, Corneal stromal ... |
OMIM:601812 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Abnormality of the hairline |
OMIM:248450 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Hypospadias, Adrenal hypoplasia, Brushfield spots, Pigmentary retinopathy, Albuminuria,... |
OMIM:214100 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sparse eyebrow, Microphthalmia, Supernumerary nipple, Small nail |
OMIM:612530 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Penoscrotal transposition, Cafe-au-lait spot, Hypospadias |
OMIM:619148 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Microcornea, Hydronephrosis, Facial hirsutism, Iris coloboma |
ORPHA:2839 |
1Q21.1 Microdeletion Syndrome |
|
Cataract, Hydronephrosis, Vesicoureteral reflux, Microphthalmia, Iris coloboma |
ORPHA:250989 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Renal cyst |
OMIM:603194 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Anterior chamber flare, Elevated circulating creat... |
ORPHA:91500 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Cowden Syndrome |
|
Abnormal penis morphology, Cataract, Abnormality of the kidney, Follicular thyroid carcinoma, Abn... |
ORPHA:201 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Congenital Ptosis |
|
Cafe-au-lait spot, Piebaldism, Astigmatism, Long eyelashes |
ORPHA:91411 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
2Q31.1 Microdeletion Syndrome |
|
Hypoplastic toenails, Abnormal hair morphology, Synophrys, Low anterior hairline, Microphthalmia,... |
ORPHA:251014 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Aplasia/H... |
ORPHA:2637 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Sparse scalp hair, Hypospadias, Precocious puberty, Areas of hypopigmentation and hyperpigmentati... |
OMIM:210720 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney |
OMIM:617244 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Hypoplasia of penis, Cataract, Absent eyelashes, Abnormal hair morphology, Lo... |
ORPHA:861 |
Ohdo Syndrome, X-Linked |
|
Sparse eyebrow, High anterior hairline, Microphthalmia, Micropenis, Cafe-au-lait spot |
OMIM:300895 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Methylmalonic aciduria |
OMIM:612073 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Elevated urinary catecholamine level, Prominent corneal nerve fib... |
ORPHA:653 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Hypoglycemia, Renal cyst, Microphthalmia, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Brittle hair, Highly arched eyebrow, Brushfield spots, Synophr... |
OMIM:619539 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Unilateral re... |
ORPHA:141099 |
Kindler Syndrome |
|
Ridged nail, Symblepharon, Phimosis, Corneal erosion, Urethral stenosis, Spotty hypopigmentation,... |
OMIM:173650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly |
OMIM:614643 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypospadias, Hypogonadotropic hypogonadism, Synophrys, Microphthalmia, Micropenis |
OMIM:603457 |
Systemic Sclerosis |
|
Renal insufficiency, Alopecia, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Nail b... |
ORPHA:90291 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Renal cyst |
OMIM:611134 |
Curry-Jones Syndrome |
|
Microphthalmia, High anterior hairline, Iris coloboma, Hirsutism |
OMIM:601707 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Hypospadias, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigment... |
ORPHA:163956 |
Cousin Syndrome |
|
Low anterior hairline, Microcornea, Facial hirsutism, Microphthalmia, Hydronephrosis |
OMIM:260660 |
Sympathetic Ophthalmia |
|
Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber... |
ORPHA:79098 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Abnormal eyelash morph... |
ORPHA:2526 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Widow's peak, Renal cyst, Multiple cafe-au-lait spots, Small nail, Peters anomaly, V... |
OMIM:616975 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches |
ORPHA:79480 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Highly arched eyebrow |
OMIM:619135 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Alkaptonuria |
|
Nephrolithiasis, Abnormality of skin pigmentation, Aminoaciduria, Irregular hyperpigmentation, Ab... |
ORPHA:56 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Microcornea, Microphthalmia |
ORPHA:3412 |
Diffuse Cutaneous Mastocytosis |
|
Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79456 |
Cat Eye Syndrome |
|
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Iris coloboma, Hydroneph... |
OMIM:115470 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Cataract, Sclerocornea, Aplasia... |
ORPHA:564 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Organic aciduria |
ORPHA:431361 |
Lysinuric Protein Intolerance |
|
Stage 5 chronic kidney disease, Fine hair, Aminoaciduria, Hyperlysinuria, Sparse hair, Oroticacid... |
OMIM:222700 |
Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Absent inner eyelashes, Microphthalmia, Iris coloboma |
OMIM:229400 |
Dubowitz Syndrome |
|
Sparse scalp hair, Hypospadias, Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris colobo... |
OMIM:223370 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Adrenal hypoplasia, Renal hypoplasia, Microphthalmia, Micropenis |
OMIM:264480 |
Mycophenolate Mofetil Embryopathy |
|
Hypoplastic toenails, Microphthalmia, Iris coloboma, Ectopic kidney |
ORPHA:268249 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Cataract, Hypospadias, Abnormality of the kidney, Rena... |
ORPHA:821 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the ovary, Generalized hypopigm... |
OMIM:619321 |
Wilson Disease |
|
Hypoparathyroidism, Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubula... |
OMIM:277900 |
Jacobsen Syndrome |
|
Hypospadias, Abnormal eyelash morphology, Microcornea, Macular hypoplasia, Microphthalmia, Iris c... |
OMIM:147791 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Cataract |
OMIM:253800 |
Mend Syndrome |
|
Microphthalmia, Cataract, Spotty hypopigmentation |
ORPHA:401973 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... |
OMIM:619743 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis |
OMIM:609136 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Microphthalmia, Micropenis, Cafe-au-lait spot |
OMIM:614083 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Hypoglycemia, Neonatal hypoglycemia |
OMIM:619055 |
Biotinidase Deficiency |
|
Alopecia, Organic aciduria, Conjunctivitis |
OMIM:253260 |
Short Stature With Microcephaly And Distinctive Facies |
|
Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair, Spotty hypopigmentation |
OMIM:615789 |
Joubert Syndrome 2 |
|
Microphthalmia, Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Dry hair, Hypospadias, Abnormal circulating thyroid hormone c... |
OMIM:619991 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Precocious puberty, Abnormality of skin pigmentation, Delaye... |
ORPHA:50 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia, Developmental cataract |
OMIM:127000 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Cataract, Renal hypoplasia, Sparse hair, Microphthalmia, Hypothyroidism |
OMIM:620005 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia, Iris coloboma, Supernumerary nipple |
ORPHA:1236 |
Mosaic Trisomy 20 |
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Depigmentation/hyperpigmentation of skin, Hypopigmented streaks, Abnormality of the kidney, Horse... |
ORPHA:1724 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Renal agenesis, Hypospadias, Optic nerve hypoplasia, Renal hypoplasia, Horseshoe kidney, Micropht... |
ORPHA:508498 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Cataract, Hypospadias, Hyperthyroidism, Renal hypoplasia, Hypopigmented skin ... |
ORPHA:567 |
Mend Syndrome |
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Cataract, Spotty hypopigmentation, Macular hypoplasia, Crossed fused renal ectopia, Anterior pola... |
OMIM:300960 |
Tetragametic Chimerism |
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Micropenis, Hypopigmented skin patches, Perineal hypospadias |
ORPHA:199310 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Cataract, Sparse eyelashes, Sparse eyebrow, Widow's peak, Microphthalmia |
ORPHA:306542 |
Infantile Krabbe Disease |
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Hypopigmented skin patches |
ORPHA:206436 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Renal hypoplasia/aplasia, Abnormal localiza... |
ORPHA:2166 |
Familial Tumoral Calcinosis |
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Nephrocalcinosis, Hypopigmented skin patches |
ORPHA:53715 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Nephrocalcinosis, Aminoaciduria, Brittle hair |
OMIM:616084 |
Tetraamelia Syndrome 1 |
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Cataract, Renal agenesis, Urethral atresia, Adrenal gland agenesis, Microphthalmia |
OMIM:273395 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Corneal opacity, Synophrys, Small nail, Thin eyebrow, Microphthalmia, Cafe-au-lait spot |
OMIM:608670 |
Monosomy 9Q22.3 |
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Microphthalmia, Nephroblastoma, Cataract |
ORPHA:77301 |
Pearson Marrow-Pancreas Syndrome |
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Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Type... |
OMIM:557000 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Fryns Syndrome |
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Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Opacification of the corneal strom... |
OMIM:229850 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Hypermelanotic macule, Hypopigmented skin patches on arms, Tubulointerstitial fibrosis, Hypothyro... |
OMIM:607944 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidi... |
OMIM:620186 |
Lysinuric Protein Intolerance |
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Proteinuria, Glomerulonephritis, Decreased response to growth hormone stimulation test, Ornithinu... |
ORPHA:470 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Lacticaciduria |
OMIM:615595 |
Cerebrooculofacioskeletal Syndrome 4 |
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Bilateral microphthalmos |
OMIM:610758 |
Osteoporosis-Pseudoglioma Syndrome |
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Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
Fumarase Deficiency |
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Bilateral fetal pyelectasis, Increased urine succinate level, Conjunctival icterus, Elevated urin... |
OMIM:606812 |
Roberts Syndrome |
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Cataract, Long penis, Polycystic kidney dysplasia, Sparse hair, Microphthalmia |
ORPHA:3103 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Cataract, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
Momo Syndrome |
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Abnormality of the thyroid gland, Bilateral microphthalmos, Hyperconvex nail |
ORPHA:2563 |
Branchiooculofacial Syndrome |
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Anophthalmia, Renal agenesis, Hypospadias, Cataract, Supernumerary nipple, Renal cyst, Low poster... |
OMIM:113620 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Hypospadias, Phthisis bulbi, Developmental cataract, Microcornea, Adrenal insuffici... |
OMIM:300166 |
Steinfeld Syndrome |
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Microphthalmia, Unilateral renal dysplasia, Iris coloboma |
OMIM:184705 |
Renpenning Syndrome 1 |
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Cataract, Hypospadias, Brittle hair, Phimosis, Renal hypoplasia, Sparse hair, Microphthalmia, Spa... |
OMIM:309500 |
Argininemia |
|
Diaminoaciduria, Oroticaciduria |
OMIM:207800 |
Monosomy 9P |
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Hypospadias, Thin nail, Highly arched eyebrow, Synophrys, Low posterior hairline, Microphthalmia,... |
ORPHA:261112 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Sparse eyebrow, Microphthalmia, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Basal Cell Nevus Syndrome 1 |
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Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
Pitt-Hopkins Syndrome |
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Micropenis, Astigmatism, Hypopigmented skin patches, Supernumerary nipple |
ORPHA:2896 |
X-Linked Intellectual Disability, Armfield Type |
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Aminoaciduria, Organic aciduria, Galactosuria, Cataract |
ORPHA:85276 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Hypospadias, Synophrys, Low anterior hairline, Microcornea, Ureterocele, Microphthalmia |
OMIM:616734 |
Microgastria-Limb Reduction Defect Syndrome |
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Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe k... |
ORPHA:2538 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Cataract, Hypospadias, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Bilater... |
ORPHA:3472 |
Biotinidase Deficiency |
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Alopecia, Organic aciduria, Conjunctivitis |
ORPHA:79241 |
Aicardi Syndrome |
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Precocious puberty, Microphthalmia, Cataract, Sparse lateral eyebrow |
OMIM:304050 |
Microphthalmia, Syndromic 9 |
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Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Pe... |
OMIM:601186 |
Meckel Syndrome 14 |
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Microphthalmia, Polycystic kidney dysplasia |
OMIM:619879 |
Witteveen-Kolk Syndrome |
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Medial flaring of the eyebrow, Cataract, Hypospadias, Decreased response to growth hormone stimul... |
OMIM:613406 |
Myhre Syndrome |
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Cataract, Fine hair, Sparse hair, Microphthalmia, Thick eyebrow |
OMIM:139210 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Congenital hypoparathyroidism, Bilateral microphthalmos, Abnormal circulating follicle-stimulatin... |
ORPHA:93325 |
Amish Lethal Microcephaly |
|
Organic aciduria |
ORPHA:99742 |
Holoprosencephaly 9 |
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Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
Charge Syndrome |
|
Anophthalmia, Hypogonadotropic hypogonadism, Highly arched eyebrow, Anterior hypopituitarism, Hor... |
ORPHA:138 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Monosomy 13Q14 |
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Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... |
OMIM:253280 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... |
OMIM:175780 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria |
OMIM:614946 |
Fontaine Progeroid Syndrome |
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Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars... |
OMIM:612289 |
Townes-Brocks Syndrome |
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Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypospadias, Antecubital pterygium, Horseshoe kidney, Popliteal pterygium, Microphthalmia, Microp... |
OMIM:609945 |
Holoprosencephaly 1 |
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Hypoglycemia, Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus |
OMIM:236100 |
Holoprosencephaly 7 |
|
Synophrys, Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Iris coloboma |
OMIM:610828 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Microphthalmia, Iris coloboma, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:3186 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hypospadias, Lacticaciduria, Hypoglycemia |
OMIM:252010 |
Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndrome, Conjunctivitis... |
ORPHA:2968 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Adrenal hypoplasia, Abnormality of the ureter, Polycys... |
OMIM:249000 |
Pmm2-Cdg |
|
Cataract, Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concent... |
ORPHA:79318 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Cataract, Sutural cataract, Highly arched eyebrow, Frontal balding, Synophrys, Nuclear pulverulen... |
OMIM:612474 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypoglycemia, Lacticaciduria |
ORPHA:3008 |
Fraser Syndrome 1 |
|
Absent eyebrow, Anophthalmia, Hypospadias, Corneal opacity, Renal hypoplasia/aplasia, Absent eyel... |
OMIM:219000 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Micropenis, Low posterior hairline |
OMIM:617925 |
Charge Syndrome |
|
Hypoparathyroidism, Anophthalmia, Renal agenesis, Cataract, Hypogonadotropic hypogonadism, Decrea... |
OMIM:214800 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Micropenis, Iris coloboma, Supernumerary nipple |
OMIM:613884 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Horseshoe kidney, Abnormal eyebrow morphology |
ORPHA:1106 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Oroticaciduria |
OMIM:616457 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
3-Methylglutaconic aciduria, Ethylmalonic aciduria, Aciduria |
OMIM:203700 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation, Testi... |
ORPHA:3063 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Cataract, Hypospadias, Sparse eyelashes, Supernumerary nipple, Spars... |
OMIM:601803 |
Mowat-Wilson Syndrome |
|
Cataract, Hypospadias, Abnormality of the kidney, Supernumerary nipple, Microcornea, Ectopia pupi... |
OMIM:235730 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Renal hypoplasia, Microcorne... |
OMIM:607932 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Microph... |
ORPHA:468631 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Pigmentary retinopathy, Multiple glomerular cysts, Lacticaciduria, Abnormal renal tubule morphology |
ORPHA:255210 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Hypopituitarism, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Prec... |
ORPHA:672 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Hypospadias, Corneal opacity, Long penis, Horseshoe kidney, Polycystic kidney dysplasia... |
OMIM:268300 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hypothyroidism |
OMIM:615486 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anophthalmia, Abnormal hair patte... |
ORPHA:2052 |
Neu-Laxova Syndrome 1 |
|
Cataract, Renal agenesis, Absent eyelashes, Microphthalmia, Pterygium |
OMIM:256520 |
Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Tortuosity of conjunctival vessels |
OMIM:609242 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia, Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
Citrullinemia, Classic |
|
Oroticaciduria |
OMIM:215700 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Oroticaciduria |
OMIM:620358 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Oroticaciduria |
OMIM:311250 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Abnormal pupil morphology, Microcornea, Vesicoureteral reflux, Webbed penis... |
ORPHA:261552 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Abnormality of the kidney, Unilateral renal agenesis, Optic nerve hy... |
ORPHA:508488 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Abnormality of the kid... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Iris coloboma, Chordee... |
ORPHA:261537 |
Holoprosencephaly 2 |
|
Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, Iris coloboma, Anterior pituitary agenesis |
OMIM:157170 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Oroticaciduria |
ORPHA:415 |
Treacher Collins Syndrome 1 |
|
Preauricular hair displacement, Bilateral microphthalmos, Sparse lower eyelashes |
OMIM:154500 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia, Hypospadias, Hydronephrosis, Adrenal gland dysgenesis |
OMIM:236680 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Microcornea, ... |
OMIM:309800 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Limbal dermoid, Vesic... |
OMIM:164210 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Maturity-onset diabetes of the young |
ORPHA:1578 |