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Gene: Pcbd1 MGI:94873

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1
Synonyms:
Pcbd,  Dcoh

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pcbd1 mutations

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

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

The table below shows human diseases associated to Pcbd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level OMIM:264070
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Maturity-onset diabetes of the young ORPHA:1578

The table below shows human diseases predicted to be associated to Pcbd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tietz Syndrome
Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of... ORPHA:42665
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... ORPHA:241
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypoplasia of the fovea, Hypopigmentation of hair, Hypopigmentatio... OMIM:619165
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation OMIM:300719
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation ORPHA:2253
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypoplasia of the fovea, Blue irides... OMIM:203200
Tietz Albinism-Deafness Syndrome
Heterochromia iridis, White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... ORPHA:71526
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Ketonuria, Glycosuria ORPHA:2089
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... ORPHA:35878
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation OMIM:113750
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, White forelock, Numerous pigmented freckles, Iris coloboma, Patchy hypo- and hyperpi... OMIM:601706
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Autism, Susceptibility To, 3
Increased serum serotonin, Ketonuria OMIM:608049
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia OMIM:620195
Homocarnosinosis
Carnosinuria, Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Phenylketonuria
Cataract, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in... OMIM:261600
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Gemignani Syndrome
Hypoplasia of penis, Delayed puberty, Hypopigmented skin patches ORPHA:2074
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... ORPHA:89838
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Hypopigme... ORPHA:33445
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
3-hydroxyisovaleric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglyc... OMIM:210200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hypoglycemia, Renal steatosis, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Albinism, Oculocutaneous, Type Iv
Albinism, Macular hypoplasia, Hypopigmentation of hair, Blue irides OMIM:606574
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract, Abnormal fingernail morphology ORPHA:2278
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Microphthalmia OMIM:619053
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Microphthalmia OMIM:120433
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, Hypoglycemia, Dicarboxylic aciduria... OMIM:619355
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Alopecia, Ketonuria, Organic aciduria, Hypoglycemia OMIM:210210
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis OMIM:222730
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... OMIM:227810
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Ketonuria, Increased level of hippuric acid in urin... OMIM:246450
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Dicarboxylic aciduria OMIM:605911
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria OMIM:268700
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Phenylketonuria
Phenylalaninuria, Hypopigmentation of the skin ORPHA:716
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Nephrolithiasis, Generalized hirsutism,... ORPHA:1816
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria OMIM:251120
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria, Abnormal hair morphology OMIM:242550
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, 3-Methylglutaconic a... OMIM:620089
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria OMIM:619813
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno... ORPHA:895
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation... ORPHA:79399
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Ketonuria, Renal tubular acidosis, Dicarboxylic aciduria OMIM:255120
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Vogt-Koyanagi-Harada Disease
Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... ORPHA:3437
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Low anterior hairline, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Cataract, Microcornea, Microphthalmia ORPHA:2528
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Richards-Rundle Syndrome
Ketonuria, Hypergonadotropic hypogonadism ORPHA:1399
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypogonadotropic hypogonadism, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177910
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... 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
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Hyper... ORPHA:3085
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Nanophthalmos
Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Hematuria, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:1473
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Mody
Abnormal circulating insulin concentration, Nephropathy, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Methionine Malabsorption Syndrome
Aminoaciduria, Blue irides, White hair OMIM:250900
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Alopecia, Graves disease, Hypopigmented skin patches, Hypogonadism, Abn... ORPHA:3143
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Galactokinase Deficiency
Cataract, Nuclear cataract, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in urin... ORPHA:79237
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Keratitis, Hyperpigmentation of the ... ORPHA:90342
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Microphthalmia/Coloboma 7
Iris coloboma, Microphthalmia OMIM:614497
Microphthalmia/Coloboma 5
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypoplasia of the fovea, White eyebr... ORPHA:352731
Erythrokeratodermia Variabilis
Cataract, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism,... ORPHA:317
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia OMIM:251270
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Abnormally large globe, Insulin-resistant diabetes mellitus, Hypopl... ORPHA:2457
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Incr... ORPHA:3453
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Hypoglycemia OMIM:251110
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty... ORPHA:79133
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Myoglobinuria, Hypothyroidism, Ketonuria, 3-Methylglutaconic aciduria OMIM:251900
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Hyperg... ORPHA:99885
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Premature thelarche, Hypothyroidism, Myoglobinuria, Premature pubarche OMIM:616878
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circu... OMIM:615363
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Elevated urinary 3-hydroxybutyric acid... OMIM:614105
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Ketonuria, Methylmalonic aciduria, Elevated urine 2... OMIM:251100
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Hypoplasia of the fovea, Fr... ORPHA:79431
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Nephritis, Alopecia, Glycosuria, Insulin-resistan... ORPHA:2298
Beta-Ketothiolase Deficiency
Hyperglycemia, Ketonuria, Hypoglycemia ORPHA:134
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abn... ORPHA:1806
Hemochromatosis, Type 4
Cataract, Glucose intolerance, Hyperpigmentation of the skin, Diabetes mellitus, Impaired glucose... OMIM:606069
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67048
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Lacticaciduria OMIM:619167
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Compensated hypothyroidism, Ketonuria, Hypoglycemia ORPHA:480864
Alopecia Totalis
Type I diabetes mellitus, Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, ... ORPHA:700
Hawkinsinuria
Fine hair, Hypothyroidism, 4-Hydroxyphenylpyruvic aciduria, Sparse hair, 4-hydroxyphenylacetic ac... ORPHA:2118
Microphthalmia, Isolated 5
Cataract, Bone spicule pigmentation of the retina, Microphthalmia OMIM:611040
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar... OMIM:129500
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia OMIM:274270
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hypopigmentation of the skin, Diabetes mellitus OMIM:615980
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Cofs Syndrome
Hypogonadism, Cataract, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Nonketotic hypoglycemia, Ketonuria, Recurrent hypoglycemia ORPHA:20
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Mottled pigmentation, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsuline... OMIM:608612
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Protei... ORPHA:263455
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Long penis, Hypertrichosis, Hyperglycemia, Hyperi... OMIM:246200
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Galactose Epimerase Deficiency
Aminoaciduria, Cataract ORPHA:79238
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... OMIM:148820
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Woolly Hair Nevus
Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Hetero... ORPHA:79414
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Blue... OMIM:203100
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... OMIM:610256
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Microphthalmia ORPHA:1617
Classic Phenylketonuria
Cataract, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Renal insufficiency, Glo... ORPHA:79282
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Hypopigmentation of the skin, Ectopia lentis, Brittle hair, Lens subluxation, Met... OMIM:236200
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hypopigmentation of the skin, Fair hair OMIM:269920
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmen... ORPHA:290
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio... ORPHA:158681
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Hypoglycemia, Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Porphyria Cutanea Tarda
Hypopigmentation of the skin, Hypertrichosis, Corneal scarring, Increased urinary porphobilinogen... ORPHA:101330
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia OMIM:614082
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the s... ORPHA:1867
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypospadias ORPHA:141333
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Microphthalmia OMIM:300915
Perlman Syndrome
Hyperinsulinemia, Hypoplasia of penis, Nephroblastoma ORPHA:2849
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Abnormality of the upp... ORPHA:1807
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Adams-Oliver Syndrome 4
Toenail dysplasia, Hypoplastic toenails, Microphthalmia OMIM:615297
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Generalized hypopigmentation, Microphthalmia, Iris transillumination defect OMIM:617306
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... ORPHA:3214
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Warburg Micro Syndrome 1
Microcornea, Facial hypertrichosis, Hypertrichosis, Developmental cataract, Microphthalmia OMIM:600118
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Generalized hirsutism ORPHA:363400
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Microphthalmia, Abnormal localization of kidney, Iris c... ORPHA:195
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Cataract, Decreased pineal volume, Microphthalmia, Nephrotic ... OMIM:301108
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Nephrocalcinosis, Long penis,... ORPHA:769
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia, Micropenis, Sparse hair OMIM:610756
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Nanophthalmos 4
Microphthalmia OMIM:615972
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Generalized hyperpigme... ORPHA:79086
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Small nail, Trichorrhexis nodosa, Brittle hair, Concave nail, Nail dystrophy, Sparse... OMIM:234050
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Rodrigues Blindness
Microcornea, Fine hair, Microphthalmia, Sclerocornea, Sparse hair OMIM:268320
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract OMIM:204000
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Hypopigmentation of hair, Reduced renal corticomedullary differenti... OMIM:618541
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Maternal Uniparental Disomy Of Chromosome X
Low posterior hairline, Hypopigmentation of the skin, Primary gonadal insufficiency ORPHA:261519
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Anophthalmia, Nail dysplasia, Microphthalmia, Sclerocornea, Iris coloboma,... ORPHA:139471
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Cataract, Ketonuria, Increased urinary glycerol ORPHA:247598
Porphyria Variegata
Chronic kidney disease, Hypopigmentation of the skin, Hypertrichosis, Increased urinary porphobil... ORPHA:79473
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hypertrichosis, Hyperinsulinemia, Low anterior... ORPHA:528
Hypomelanosis Of Ito
Cataract, Alopecia, Iris coloboma, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ectopic kidney, Cystic renal dysplasia, Microphthalmia OMIM:613730
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Small nail, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail band... OMIM:601675
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
D-Lactic Aciduria With Gout
Elevated urine D-lactate level, Aniridia, Lacticaciduria OMIM:245450
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Cataract, Nephritis, Anterior lenticonus, Glomerular base... OMIM:203780
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia ORPHA:6
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cataract, Microphthalmia OMIM:601794
Cystinosis, Nephropathic
Hematuria, Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Hypopigmentation of the s... OMIM:219800
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal localization of kidney, Delayed puberty, Hypopigmented skin patches ORPHA:1825
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Adrenal insufficiency, Renal insufficiency, Lacticaciduria OMIM:619386
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Abnormal hair morphology, Subcapsular cataract ORPHA:414
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... ORPHA:69087
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract, Hypogonadism, Hyperinsulinemia, Type II diabetes mel... ORPHA:791
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Astigmatism, Microphthalmia OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Cataract, Microphthalmia ORPHA:363741
Propionic Acidemia
Organic aciduria, Hypoglycemia ORPHA:35
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Herpetiform corneal ulcer... OMIM:276600
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia ORPHA:664
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Fasting hyperinsulinemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia... ORPHA:71212
Scorpion Envenomation
Acute kidney injury, Mydriasis, Ketonuria, Glycosuria, Hyperglycemia ORPHA:466677
Hawkinsinuria
Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, Sparse hair, 4-hydroxyphenylace... OMIM:140350
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Sparse eyebrow, Coarse hair, Sparse eyelashes, Hydronephrosis, Patchy alop... ORPHA:35173
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidne... OMIM:120330
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia ORPHA:231736
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Ectopia lentis ORPHA:833
Vici Syndrome
Cataract, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Renal tubular acidos... ORPHA:1493
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Hypertrichosis, Abnormality of skin pigmentation, Microphthalmia OMIM:612379
Hypogonadism-Cataract Syndrome
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Alg3-Cdg
Cataract, Abnormality of the endocrine system, Hypopigmentation of the skin ORPHA:79321
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting t... ORPHA:83461
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Hypoglycemia OMIM:614741
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Alopecia, Hypopigmentation of the skin, Horseshoe kidney, Hyperphosphaturia, ... OMIM:163200
Pierpont Syndrome
Microcornea, High anterior hairline, Microphthalmia ORPHA:487825
Aniridia 1
Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ectopia pupillae, Hypoplasia of the... OMIM:106210
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Alopecia, Vesicoureteral reflux, Microphthalmia, Iri... ORPHA:85284
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Hypogonadism, White forelock, Heterochromi... OMIM:613266
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Aplasia/Hyp... ORPHA:85194
Pierpont Syndrome
Micropenis, Microcornea, High anterior hairline, Microphthalmia OMIM:602342
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Ocular albinism, Hypoplasia of the iris, Prema... OMIM:611584
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,... ORPHA:79430
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Albinism, Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the f... OMIM:614077
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Menkes Disease
Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair OMIM:309400
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, White hair, Ocular albinism, Abnormal renal tubule morphology, G... ORPHA:2720
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperpigmentation ... OMIM:613743
Mmep Syndrome
Microphthalmia ORPHA:3434
Hereditary Mucoepithelial Dysplasia
Sparse hair, Cataract, Alopecia, Fine hair, Hematuria, Abnormality of the bladder, Corneal dystrophy ORPHA:1839
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches, Neutral hyperaminoaciduria, Abnormal uri... ORPHA:2116
Curry-Jones Syndrome
Generalized hirsutism, Iris coloboma, Hypopigmented skin patches, Microphthalmia ORPHA:1553
Galactosemia I
Aminoaciduria, Cataract, Galactosuria, Increased level of galactitol in urine, Albuminuria, Hyper... OMIM:230400
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Anophthalmia, Microphthalmia, Micropenis, Opt... OMIM:610125
Dent Disease
Renal phosphate wasting, Cataract, Chronic kidney disease, Focal segmental glomerulosclerosis, Am... ORPHA:1652
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2584
Lichen Planus Pemphigoides
Conjunctivitis, Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Seckel Syndrome 2
Few cafe-au-lait spots, Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Frontofacionasal Dysplasia
Cataract, Microcornea, Aplasia/Hypoplasia of the eyebrow, Limbal dermoid, Absent inner eyelashes,... ORPHA:1791
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Type I diabetes mellitus, Male hypogonadism, Nephrocalcinosis, Alopecia, Pigmentary ret... OMIM:240300
Cronkhite-Canada Syndrome
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, General... ORPHA:2930
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Hypergl... ORPHA:79474
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract, Diabetes mellitus OMIM:601811
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Premature adrenarche, Precocious puberty, Decreased circulating gonadotrop... ORPHA:98754
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia OMIM:617950
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Proteinuria, Diabet... OMIM:616026
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Low anterior hairline, Corneal opacity OMIM:613153
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Irregular hyperpigmentation, Fine hair, Abnormal hair morphology, ... ORPHA:634
Lichen Planopilaris
Alopecia, Hypopigmented skin patches, Pterygium, Abnormal fingernail morphology, Onycholysis ORPHA:525
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma OMIM:212550
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Renal insufficiency, Renal tubular dysfunct... ORPHA:213
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Premature adrenarche, Precocious puberty, Decreased circulating gonadotrop... ORPHA:98793
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Cataract, Hypopigmentation of the skin, Small nail, Hypoplasi... OMIM:251300
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Ketonuria, Hypoglycemia, Hyperglycemia, Low anterior hairline, Hirsutism, ... OMIM:220111
Incontinentia Pigmenti
Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea... OMIM:308300
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Pulverulent cataract, Developmental cataract, Microphthalmia OMIM:193220
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Premature adrenarche, Precocious puberty, Decreased circulating gonadotrop... ORPHA:177904
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Oculocerebrocutaneous Syndrome
Alopecia, Anophthalmia, Microphthalmia OMIM:164180
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Premature adrenarche, Precocious puberty, Decreased circulating gonadotrop... ORPHA:177901
Waardenburg Syndrome, Type 1
Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,... OMIM:193500
Gracile Syndrome
Aminoaciduria OMIM:603358
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
Alstrom Syndrome
Nephritis, Alopecia, Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Decreased respo... OMIM:203800
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Cataract, Hirsutism, Microphthalmia OMIM:214150
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Multinodular goiter, Conjuncti... OMIM:618373
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa, Abnormal hair quantity ORPHA:23
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Hypopigmentation of the skin, Ce... ORPHA:398079
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens ORPHA:1381
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Anophthalmia, Microp... OMIM:615877
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Decreased response to growth hormone stimulation test, Horseshoe kidney, Vesico... OMIM:609053
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Griscelli Syndrome
Iris hypopigmentation, Silver-gray hair, Hypopigmented skin patches, White hair, Premature grayin... ORPHA:381
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Mottled pigmentation, Sparse scalp hair, Insulin-resistant diabetes mellitus, Hyperglyc... OMIM:248370
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
Porphyria, Congenital Erythropoietic
Alopecia, Hypopigmentation of the skin, Hypertrichosis, Corneal scarring, Red urine, Loss of eyel... OMIM:263700
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Hypopigmented skin patches, Renal insufficiency, Abnormality of retinal pigmentation, P... ORPHA:2715
Warburg Micro Syndrome 3
Cataract, Microcornea, Hypertrichosis, Low anterior hairline, Developmental cataract, Microphthal... OMIM:614222
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Microphthalmia, Hypoplasia of penis, Abnorma... ORPHA:2547
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Carney Complex, Type 1
Pituitary adenoma, Multiple lentigines, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular h... OMIM:160980
Adams-Oliver Syndrome 2
Alopecia, Small nail, Low anterior hairline, Developmental cataract, Microphthalmia OMIM:614219
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos, Hirsutism OMIM:619318
Traboulsi Syndrome
Cataract, Homocystinuria, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophaki... OMIM:601552
Trichothiodystrophy 3, Photosensitive
Cataract, Trichorrhexis nodosa, Tiger tail banding, Developmental cataract, Brittle hair, Microph... OMIM:616395
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity, Microphthalmia OMIM:152950
Acute Radiation Syndrome
Cataract, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:454831
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Chediak-Higashi Syndrome
Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Ocular albinism, Macular h... OMIM:214500
Hermansky-Pudlak Syndrome 6
Urinary incontinence, Albinism, Hypopigmentation of the skin, Recurrent urinary tract infections,... OMIM:614075
Trisomy 13
Cataract, Abnormality of the ureter, Aplasia/Hypoplasia of the iris, Anophthalmia, Displacement o... ORPHA:3378
Encephalocraniocutaneous Lipomatosis
Alopecia, Hypoplasia of the iris, Limbal dermoid, Linear hyperpigmentation, Hydronephrosis, Micro... OMIM:613001
Slc35A2-Cdg
Precocious puberty, Hypopigmentation of the skin, Elevated circulating thyroid-stimulating hormon... ORPHA:356961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ... OMIM:612843
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Polycystic kidney dysplasia, Astigmatism, Hyperpigmentation of the ... ORPHA:35125
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Macular hypoplasia, Leukocoria, Phthisis bu... ORPHA:91495
Temtamy Syndrome
Highly arched eyebrow, Ectopia lentis, Microphthalmia, Iris coloboma, Lens luxation OMIM:218340
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Frontonasal Dysplasia 1
Cataract, Widow's peak, Microphthalmia OMIM:136760
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Bilateral microphthalmos, Conjunctival hyperemia, Corneal opacity, Micr... ORPHA:2399
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Xeroderma Pigmentosum, Complementation Group C
Conjunctivitis, Hypopigmentation of the skin, Keratitis, Freckling OMIM:278720
Bardet-Biedl Syndrome 9
Cataract, Hyperglycemia, Renal insufficiency, Astigmatism, Bone spicule pigmentation of the retina OMIM:615986
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Small nail, Hypogonadism, Hypoplastic nipples, Sparse hair OMIM:273400
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Abnormality of skin pigmentation ORPHA:220402
Dowling-Degos Disease
Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Penile freckling, Mixe... ORPHA:79145
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia, Abnormality of retinal pigmentation ORPHA:171844
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Hypogonadism, Freckling, Microphthalmia OMIM:610651
Micro Syndrome
Cataract, Microcornea, Abnormal localization of kidney, Abnormality of retinal pigmentation, Hydr... ORPHA:2510
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Irregular hyperpigmentation, Generalized hirsutism, Microphthalmia, Hypospadias ORPHA:2505
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Developmental c... OMIM:620185
Temtamy Syndrome
Iris coloboma, Microphthalmia ORPHA:1777
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Horseshoe kidney, Nail dystrophy, Hirsutism, Low posterior hairline, Spotty ... OMIM:300860
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium OMIM:619339
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria,... ORPHA:2088
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Increased circu... OMIM:171400
Large Congenital Melanocytic Nevus
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... ORPHA:626
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Warburg Micro Syndrome 4
Microcornea, Low anterior hairline, Hirsutism, Developmental cataract, Microphthalmia, Micropenis OMIM:615663
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... ORPHA:3337
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Nail dystrophy, Microphthalmia OMIM:300887
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy, Hyperinsulinemic hypoglycemia OMIM:602579
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Microphthalmia/Coloboma 12
Peters anomaly, Optic nerve aplasia, Vesicoureteral reflux, Corneal opacity, Microphthalmia OMIM:120200
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Microphthalmia, Ma... OMIM:612109
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Cataract, Anterior lenticonus, Thickened glomerular basement membrane, Glomerular ba... OMIM:308940
Refsum Disease
Cataract, Renal insufficiency, Abnormality of retinal pigmentation, Nail dysplasia, Microphthalmia ORPHA:773
Crouzon Syndrome
Conjunctivitis, Melanocytic nevus, Iris coloboma, Hypopigmented skin patches ORPHA:207
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid... ORPHA:508
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Peters anomaly, Vesicoureteral reflux, Astigmatism, Broad eyebrow, Microphthalmia,... ORPHA:494344
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Sparse medial eyebrow, Developmental cataract, Microphthalmia, Laterally e... OMIM:618804
Microphthalmia/Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma OMIM:615145
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... OMIM:609734
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia, Corneal opacity ORPHA:2788
Incontinentia Pigmenti
Cataract, Alopecia, Ridged fingernail, Keratitis, Hypopigmented skin patches, Irregular hyperpigm... ORPHA:464
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Hypopigmented skin patches, Curly hair, Neonatal hypoglycemia, Cafe-au-lait spot ORPHA:457485
Hepatoerythropoietic Porphyria
Red-brown urine, Facial hypertrichosis, Hypopigmentation of the skin, Purple urine, Red urine, Lo... ORPHA:95159
Lymphedema-Distichiasis Syndrome
Cataract, Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Dis... ORPHA:33001
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Wolfram Syndrome 1
Cataract, Pigmentary retinopathy, Hydroureter, Hydronephrosis, Hypothyroidism, Neurogenic bladder... OMIM:222300
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Abnormal cornea morphology, Corne... ORPHA:411634
Tyrosinemia, Type Iii
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia OMIM:276710
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Ren... OMIM:231680
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Warburg Micro Syndrome 2
Cataract, Microcornea, Low anterior hairline, Developmental cataract, Microphthalmia, Micropenis OMIM:614225
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate brown pigmentation... ORPHA:79396
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Hypopigmentation of the skin, Central hypothyroidism, ... ORPHA:398069
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Precocious puberty in females, Hypopigmentation of the skin, ... ORPHA:72
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone spicule pigmen... OMIM:268315
Vici Syndrome
Cataract, Albinism, Hypopigmentation of the skin, Ocular albinism, Penile hypospadias, Macular hy... OMIM:242840
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Ureterocele, Sparse eyelashes, Duplicated collecting system, Renal dysplasia, Sparse pubic hair, ... OMIM:604292
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Microphthalmia ORPHA:3191
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Generalized hirsutism, Methylmalonic aciduria ORPHA:1933
Pierson Syndrome
Cataract, Nephrotic syndrome, Hypoplasia of the iris, Hyperechogenic kidneys, Rieger anomaly, Uve... OMIM:609049
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Oligosacchariduria, Microphthalmia ORPHA:163649
Frontonasal Dysplasia 3
Sparse eyelashes, Absent eyebrow, Microphthalmia OMIM:613456
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Sparse eyebrow, Widow's peak, Microphthalmia OMIM:167730
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Abnormal hair morphology, Hyperpigmented nevi, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Infantile Nephropathic Cystinosis
Aminoaciduria, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Glycosuria, ... ORPHA:411629
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Abnormality of hair pigmentation, Elevated urine 3-methyladi... OMIM:618156
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Microphthalmia OMIM:602501
Otodental Syndrome
Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria, Ne... OMIM:613404
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Cataract, Hypertrichosis, Renal insufficiency, Hypoparathyroidism OMIM:247410
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Diabetes mellitus OMIM:249270
Dermotrichic Syndrome
Aminoaciduria, Hyperconvex toenail, Nail dystrophy ORPHA:99688
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypopigmented skin patches, Hypogonadotropic hypogonadism, Aplastic/hypoplastic toenail, Hypoplas... ORPHA:1295
Dyskeratosis Congenita
Cataract, Alopecia, Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal f... ORPHA:1775
Mosaic Trisomy 8
Hypopigmentation of the skin, Hypopigmented skin patches, Vesicoureteral reflux, Hydronephrosis, ... ORPHA:96061
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Hirsutism OMIM:613327
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Hypoplasia of penis, Hypospadias ORPHA:77298
Garg-Mishra Progeroid Syndrome
Sparse hair, Cafe-au-lait spot, Small nail, Microphthalmia OMIM:620601
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Congenital Fibrinogen Deficiency
Micropenis, Abnormality of the subungual region, Developmental cataract, Microphthalmia ORPHA:335
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Ruvalcaba Syndrome
Hypopigmented skin patches, Hematuria, Generalized hirsutism, Delayed puberty, Abnormal localizat... ORPHA:3121
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Proximal Renal Tubular Acidosis
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Glycosuria, Hypernatriuria, Low-mole... ORPHA:47159
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hematuria, Proximal renal tubular acidosis, Microphthalmia, Aminoaciduria, Cataract,... ORPHA:534
Sialidosis Type 1
Aminoaciduria, Cataract, Urinary excretion of sialylated oligosaccharides, Increased urinary O-li... ORPHA:812
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
Harrod Syndrome
Cataract, Multicystic kidney dysplasia, Hypospadias, Hypopigmented skin patches ORPHA:2115
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Joubert Syndrome 37
Hydronephrosis, Sparse hair, Micropenis, Microphthalmia OMIM:619185
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Cataract, Renal insufficiency, Generalized hirsutism, Hypothyroidism, Anonychia, Hyp... ORPHA:1563
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Sparse eyelashes, Hy... OMIM:618874
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Anonychia, Aplasia/Hypoplasia of the eyebrow, Brushfield spots, Hypos... ORPHA:1784
Eec Syndrome
Sparse eyebrow, Coarse hair, Keratitis, Fine hair, Decreased response to growth hormone stimulati... ORPHA:1896
Pontocerebellar Hypoplasia, Type 7
Micropenis, Hirsutism, Hypopigmentation of the skin, Synophrys OMIM:614969
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Microphthalmia OMIM:614583
Bloom Syndrome
Hypopigmentation of the skin, Hypertrichosis, Type II diabetes mellitus, Spotty hypopigmentation,... OMIM:210900
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Alopecia, Sparse eyebrow, Premature graying of hair, Hypogonadism, Nail dy... OMIM:268400
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:302350
Ifap Syndrome 2
Cataract, Atrichia, Keratitis, Nail dystrophy, Keratoconjunctivitis sicca, Sparse hair OMIM:619016
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Highly arched eyebrow, Ectopia lentis, Microphthalmia, Iris coloboma ORPHA:2712
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Cataract, Abnormal circulating calcium-phosphate regulating hormone concentra... ORPHA:2238
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Nephrocalcinosis, Decreased circulating parathyroid hormone level OMIM:146200
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Methylmalonic aciduria, Hypoglycemia, Lacticaciduria OMIM:245400
Rothmund-Thomson Syndrome Type 1
Hypopigmentation of the skin, Hypogonadism, Alopecia totalis, Sparse or absent eyelashes, Juvenil... ORPHA:221008
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Low posterior hairline, Microphthalmia, Micropenis, Iris coloboma OMIM:243310
Monosomy 18P
Low posterior hairline, Alopecia, Hypothyroidism, Microphthalmia ORPHA:1598
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Hyperpigmentation of the skin, Ectop... OMIM:610832
Deafness, X-Linked 7
Unilateral microphthalmos, Thick eyebrow OMIM:301018
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Alopecia, Fine hair, Microphthalmia ORPHA:228390
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Pigmentary retinopathy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, ... ORPHA:436271
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Abnormal toenail morphology, Orotic aci... ORPHA:30
Bloom Syndrome
Insulin resistance, Hypopigmentation of the skin, Paronychia, Recurrent urinary tract infections,... ORPHA:125
Xeroderma Pigmentosum
Aminoaciduria, Cataract, Alopecia, Keratitis, Hypopigmented skin patches, Hypermelanotic macule, ... ORPHA:910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Microphthalmia OMIM:615249
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Ureterocele, Sparse eyelashes, Duplicated collecting system, Sparse hair, Renal dysplasia, Sparse... OMIM:129900
Congenital Erythropoietic Porphyria
Red-brown urine, Facial hypertrichosis, Hypopigmentation of the skin, Purple urine, Increased uri... ORPHA:79277
Aniridia 3
Cataract, Aniridia OMIM:617142
Kapur-Toriello Syndrome
Cataract, Abnormality of the urinary system, Low posterior hairline, Microphthalmia, Micropenis, ... OMIM:244300
Leigh Syndrome
Cataract, Generalized aminoaciduria, Alopecia, Methylmalonic aciduria, Hypoglycemia, Hypertrichos... ORPHA:506
Fanconi Anemia, Complementation Group S
Long eyelashes, Sparse hair, Low anterior hairline, Microphthalmia OMIM:617883
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia OMIM:618652
17Q12 Microduplication Syndrome
Synophrys, Microphthalmia ORPHA:261272
Linear Nevus Sebaceus Syndrome
Alopecia, Irregular hyperpigmentation, Melanocytic nevus, Microphthalmia, Iris coloboma ORPHA:2612
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Horizontal eyebrow, Astigmatism, Microphthalmia, Renal dysplasia OMIM:618571
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Hydronephrosis, Microphthalmia... OMIM:243605
3Q29 Microdeletion Syndrome
Cataract, Horseshoe kidney, Abnormality of skin pigmentation, Microphthalmia, Hypospadias ORPHA:65286
Walker-Warburg Syndrome
Cataract, Microcornea, Anophthalmia, Corneal opacity, Microphthalmia, Hypoplasia of penis, Iris c... ORPHA:899
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Microphthalmia, Sclerocornea, Hypoplasia of penis ORPHA:284160
Rothmund-Thomson Syndrome
Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen... ORPHA:2909
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Hydronephrosis, Microphthalmia, Sparse hair, Hypospadias OMIM:616449
Mitochondrial Dna Depletion Syndrome 18
Elevated urinary quinolinic acid level, Lacticaciduria OMIM:618811
Fanconi Anemia, Complementation Group A
Renal agenesis, Horseshoe kidney, Abnormal renal morphology, Abnormality of skin pigmentation, Mi... OMIM:227650
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Cataract, Microcornea, Fine hair, Sparse eyelashes, Microphthalmia, Persistent pupil... OMIM:257850
Intellectual Disability And Myopathy Syndrome
Spotty hypopigmentation, Cafe-au-lait spot OMIM:619719
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Decreased response to growth hormone stimulation test, Vesicouret... OMIM:603467
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Nephrolithiasis, Hirsutism, Insulin-resistant diabetes mellitus at puberty, Dia... OMIM:608594
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Iris coloboma, Multicystic kidney dysplasia, Microphthalmia, Septo-optic d... ORPHA:3301
Fanconi Anemia, Complementation Group E
Renal agenesis, Horseshoe kidney, Hyperpigmentation of the skin, Microphthalmia, Duplicated colle... OMIM:600901
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Decreased response to growth hormone stimula... ORPHA:177907
Frontorhiny
Cataract, Hypopituitarism, Microphthalmia, Diabetes insipidus, Iris coloboma, Widow's peak ORPHA:391474
Martsolf Syndrome 1
Cataract, Abnormal toenail morphology, Low posterior hairline, Hypogonadotropic hypogonadism, Low... OMIM:212720
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Hyperpigmented streaks, Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Neck pterygia, Horseshoe kidney, Hyperconvex fingernails, Hyperinsulinemia, Glucose int... ORPHA:99413
Mosaic Monosomy X
Alopecia, Neck pterygia, Horseshoe kidney, Hyperconvex fingernails, Hyperinsulinemia, Glucose int... ORPHA:99228
Monosomy X
Alopecia, Neck pterygia, Horseshoe kidney, Hyperconvex fingernails, Hyperinsulinemia, Glucose int... ORPHA:99226
Turner Syndrome
Alopecia, Neck pterygia, Horseshoe kidney, Hyperconvex fingernails, Hyperinsulinemia, Glucose int... ORPHA:881
Trichohepatoenteric Syndrome 1
Galactosuria, Fine hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Generalized hypopigmentat... OMIM:222470
Focal Dermal Hypoplasia
Supernumerary nipple, Absent toenail, Anophthalmia, Brittle hair, Microphthalmia, Sparse hair, Ir... OMIM:305600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Astigmatism, Scarring alopecia of scalp, Microphthalmia OMIM:618727
Oculocerebrocutaneous Syndrome
Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Corneal opacity, Iris coloboma ORPHA:1647
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyebrow, Hypopigmented skin patches, Hypogonadism, Nephrolithiasis,... ORPHA:2067
Microphthalmia, Lenz Type
Cataract, Microcornea, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis, Microp... ORPHA:568
Cohen Syndrome
Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Low anterior hairline, Delaye... ORPHA:193
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Pigmentary retinopathy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, ... OMIM:220110
Adams-Oliver Syndrome
Cataract, Alopecia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Microphthalmia, Sparse ... ORPHA:974
Mucoepithelial Dysplasia, Hereditary
Sparse hair, Cataract, Alopecia, Coarse hair, Chronic monilial nail infection, Corneal neovascula... OMIM:158310
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj... OMIM:278730
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level OMIM:264070
Moebius Syndrome
Micropenis, Hypogonadotropic hypogonadism, Abnormality of the nail, Microphthalmia OMIM:157900
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyebrow, Sparse eyelashes, Hydronephrosis, Patchy alopecia, Microphthalmia, Spar... OMIM:302960
Hartsfield Syndrome
Microphthalmia ORPHA:2117
3Q29 Microduplication Syndrome
Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:251038
Amyloidosis, Finnish Type
Cataract, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, ... OMIM:105120
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Maturity-onset diabetes of the young, G... OMIM:137920
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Nephrolithiasis, Hirsutism, Insulin-resistant diabet... OMIM:269700
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Hypoplasia ... OMIM:214110
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Microphtha... OMIM:617914
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lens coloboma, Microphthalmia OMIM:618914
Mucolipidosis Ii Alpha/Beta
Sparse hair, Sparse eyebrow, Hypopigmentation of the skin, Megalocornea, Mucopolysacchariduria, B... OMIM:252500
Rothmund-Thomson Syndrome Type 2
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Juvenile cataract, Na... ORPHA:221016
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Alopecia, Ectopia lentis, Hypoplasia of the iris, Horseshoe kidney,... ORPHA:2092
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Microphthalmia ORPHA:1438
Duane Retraction Syndrome
Microcornea, Irregular hyperpigmentation, Optic disc hypoplasia, Central heterochromia, Hypopigme... ORPHA:233
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Horizontal eyebrow, Bilateral microphthalmos, Frontal upsweep of hair, Low anterior hairline, Ocu... ORPHA:369891
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, L... OMIM:605711
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Microcornea, Sparse pubic hair, Microphthalmia, Increased circulating gona... OMIM:110100
Syndromic Diarrhea
Renal hypoplasia, Trichorrhexis nodosa, Hypoplasia of the thymus, Hypothyroidism, Uncombable hair... ORPHA:84064
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Hypospadias, Alopecia, Hypopigmentation of the skin, Fair hair, Recurrent uri... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Hypospadias, Alopecia, Hypopigmentation of the skin, Fair hair, Recurrent uri... ORPHA:363958
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Alopecia, Organic aciduria ORPHA:79242
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia, Microphthalmia OMIM:618494
Degcags Syndrome
Chronic kidney disease, Premature graying of hair, Abnormal renal cortex morphology, Low posterio... OMIM:619488
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Abnormality of the thyroid gland, Abnormality of retinal pigmentation, Multipl... ORPHA:1969
Oculotrichoanal Syndrome
Abnormal hair pattern, Anophthalmia, Microphthalmia ORPHA:2717
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria OMIM:614707
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Cataract, Band keratopathy, Alopecia, Primary adrenal insufficiency, Type II diabetes me... OMIM:269200
Steinert Myotonic Dystrophy
Insulin resistance, Early balding, Posterior subcapsular cataract, Male hypogonadism, Alopecia, D... ORPHA:273
Hermansky-Pudlak Syndrome 2
Fair hair, Ocular albinism, Aberrant melanosome maturation, Generalized hypopigmentation, Albinism OMIM:608233
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Hypopigmentation of the skin, Myopic astigmatism, Hypoglycemia, Synophrys OMIM:301066
Myoclonic-Astatic Epilepsy
Frontal balding, Microphthalmia ORPHA:1942
Cockayne Syndrome
Lentiglobus, Dry hair, Absence of pubertal development, Microphthalmia, Urinary incontinence, Nep... ORPHA:191
X-Linked Agammaglobulinemia
Conjunctivitis, Alopecia, Hypopigmented skin patches ORPHA:47
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Oculodentodigital Dysplasia
Cataract, Microcornea, Dry hair, Fine hair, Neurogenic bladder, Slow-growing hair, Microphthalmia... OMIM:164200
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Unilateral renal agenesis, Hydroureter, Urinary retention, Re... ORPHA:90324
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morphology, Hypertrichosis, Nai... ORPHA:678
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Pigmentary retinopathy, Micropenis, Microphthalmia, Sclerocornea OMIM:614230
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Abnormal penis morphology, Acute kidney injury, Moderate albuminuria, Keratitis, Hy... ORPHA:95455
Holocarboxylase Synthetase Deficiency
Alopecia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Organic a... OMIM:253270
Manitoba Oculotrichoanal Syndrome
Abnormality of the hairline, Corneopalpebral synechiae, Anophthalmia, Microphthalmia OMIM:248450
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Long eyelashes, Organic aciduria OMIM:620191
Matthew-Wood Syndrome
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Microphthalmia ORPHA:2470
Oculopalatocerebral Syndrome
Leukocoria, Microphthalmia OMIM:257910
Localized Scleroderma
Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Hashimoto thyroiditis, Pat... ORPHA:90289
Cockayne Syndrome B
Sparse hair, Microcornea, Pigmentary retinopathy, Dry hair, Hypoplasia of the iris, Abnormal hair... OMIM:133540
Fanconi Anemia, Complementation Group C
Renal agenesis, Horseshoe kidney, Hyperpigmentation of the skin, Microphthalmia, Duplicated colle... OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia OMIM:616538
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Congenital hypoparathyroidism, Microphthal... OMIM:241410
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Hypoglycemia, Lacticaciduria, Polycystic kidney dys... ORPHA:26791
Scalp-Ear-Nipple Syndrome
Cataract, Type I diabetes mellitus, Duplication of renal pelvis, Recurrent urinary tract infectio... ORPHA:2036
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Micropenis, Anterior ... OMIM:206900
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Inguinal freckling, Lisch nodules, Juvenile posterior s... OMIM:101000
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia ORPHA:891
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Pigmentary retinopathy, Peters anomaly, Chordee, Micropenis, Microphthalmi... OMIM:309801
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Sparse eyebrow, High anterior hairline, Supernumerary nipple, Thick eyebrow, Microphthalmia, Syno... OMIM:620098
Duane-Radial Ray Syndrome
Cataract, Renal hypoplasia, Renal agenesis, Optic disc hypoplasia, Horseshoe kidney, Crossed fuse... OMIM:607323
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin OMIM:620237
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... ORPHA:167
D-Glyceric Aciduria
Aminoaciduria, Micropenis, Hypoglycemia, Optic nerve hypoplasia OMIM:220120
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Hypogonadism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Iris coloboma ORPHA:2250
Kapur-Toriello Syndrome
Hypoplasia of penis, Iris coloboma, Microphthalmia ORPHA:2328
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Mitochondrial Complex I Deficiency, Nuclear Type 26
Lacticaciduria OMIM:618247
Meckel Syndrome, Type 5
Renal cyst, Microphthalmia OMIM:611561
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Hypothyroidism, Developmental catar... ORPHA:2108
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Microphthalmia OMIM:611961
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Mismatch Repair Cancer Syndrome 1
Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling OMIM:276300
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Corneal scarring, Stage 5 chronic kidney disease... OMIM:309000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Low anterior hairline, Microphthalmia ORPHA:404440
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Microcornea, Bilateral microphthalmos, Ridged nail, Tiger tail b... ORPHA:33364
Phace Syndrome
Cataract, Optic nerve hypoplasia, Heterochromia iridis, Hypothyroidism, Microphthalmia, Sclerocor... ORPHA:42775
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small nail, Thin eyebrow, Corneal opacity, Microphthalmia, Cafe-au-lait spot, Synophrys ORPHA:364577
Oculo-Palato-Cerebral Syndrome
Aplasia/Hypoplasia of the nails, Cataract, Leukocoria, Microphthalmia ORPHA:2714
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ectopia, Vesi... ORPHA:959
Mosaic Variegated Aneuploidy Syndrome
Cataract, Multicystic kidney dysplasia, Nephroblastoma, Hypothyroidism, Multiple cafe-au-lait spo... ORPHA:1052
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Sparse eyebrow, Male urethral meatus stenosis, Hydronephrosis, Developmental catarac... ORPHA:464738
Neurofibromatosis Type 1
Precocious puberty, Cataract, Inguinal freckling, Axillary freckling, Hypopigmented skin patches,... ORPHA:636
Gracile Bone Dysplasia
Micropenis, Aniridia, Microphthalmia OMIM:602361
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Tubuloin... ORPHA:183
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane OMIM:613150
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula, Microphthalmia ORPHA:2728
Fanconi Anemia
Cataract, Abnormality of the urinary system, Hydroureter, Hypopigmented skin patches, Irregular h... ORPHA:84
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Microphthalmia, Sparse hair OMIM:613451
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Abnormality of the urethra, Hypopigmented skin patches, Dystrophic t... ORPHA:2907
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology,... ORPHA:163746
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cataract, Hypospadias, Hypopigmentation of the skin, Melanocytic nevus, Thick eyebrow, Juvenile c... OMIM:619475
Holoprosencephaly
Highly arched eyebrow, Abnormality of the urinary system, Hypoglycemia, Panhypopituitarism, Thick... ORPHA:2162
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Hyperphosphaturia, Hypercalciuria,... OMIM:239200
Phace Association
Congenital hypothyroidism, Lingual thyroid, Developmental cataract, Microphthalmia, Optic nerve h... OMIM:606519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Abnormality of retinal pigmentation, Corneal opacity, Microphthalmia, Lens subl... ORPHA:85167
Pearson Syndrome
Cataract, Pigmentary retinopathy, Glycosuria, Decreased response to growth hormone stimulation te... ORPHA:699
Argininosuccinic Aciduria
Aminoaciduria, Dry hair, Oroticaciduria, Trichorrhexis nodosa, Brittle hair OMIM:207900
Fanconi Anemia, Complementation Group D2
Renal agenesis, Horseshoe kidney, Renal duplication, Micropenis, Abnormality of skin pigmentation... OMIM:227646
Lymphedema-Distichiasis Syndrome
Yellow nails, Recurrent corneal erosions, Distichiasis, Microphthalmia, Conjunctivitis, Corneal u... OMIM:153400
Teebi-Shaltout Syndrome
Highly arched eyebrow, Ureteral stenosis, Horseshoe kidney, Low anterior hairline, Hydronephrosis... OMIM:272950
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Cataract, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Brittle hair, Hyper... OMIM:124000
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypopigmented skin patches, Anophthalmia, Abnormality of retinal pigme... ORPHA:2556
Liver Failure, Infantile, Transient
Lacticaciduria, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria OMIM:613070
Mosaic Trisomy 1
Hypoplastic thumbnail, Small nail, Renal cortical cysts, Penile hypospadias, Renal cyst, Micropht... ORPHA:1692
Sarcoidosis
Cataract, Nephrocalcinosis, Alopecia, Hypopigmentation of the skin, Renal insufficiency, Nephroli... ORPHA:797
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Fetal Alcohol Syndrome
Generalized hirsutism, Microphthalmia ORPHA:1915
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... ORPHA:416
Chromomycosis
Keratoconjunctivitis sicca, Keratitis, Hypopigmented skin patches ORPHA:182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Microphthalmia, Buphthalmos, Renal dyspl... OMIM:236670
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... OMIM:208085
Acrofrontofacionasal Dysostosis 1
Small nail, Long eyelashes, Iris atrophy, Microphthalmia, Long eyebrows, Widow's peak OMIM:201180
Fryns Syndrome
Multicystic kidney dysplasia, Hypoplastic fingernail, Vesicoureteral reflux, Hydronephrosis, Corn... ORPHA:2059
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias, Microphthalmia OMIM:248700
Hallermann-Streiff Syndrome
Cataract, Sparse eyebrow, Fine hair, Sparse eyelashes, Microphthalmia, Sparse hair, Iris coloboma... OMIM:234100
Joubert Syndrome 14
Renal cyst, Highly arched eyebrow, Microphthalmia OMIM:614424
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Mosaic Trisomy 9
Small nail, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Corneal opacity, Microphthalm... ORPHA:99776
Microphthalmia With Limb Anomalies
Abnormal eyelash morphology, Anophthalmia, Microphthalmia OMIM:206920
Trisomy 18
Cataract, Microcornea, Abnormality of retinal pigmentation, Abnormal toenail morphology, Hydronep... ORPHA:3380
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Corneal stromal edema, Corneal op... OMIM:601812
Bartsocas-Papas Syndrome 1
Axillary pterygium, Alopecia, Popliteal pterygium, Small nail, Pterygium, Alopecia totalis, Absen... OMIM:263650
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
1Q21.1 Microdeletion Syndrome
Cataract, Vesicoureteral reflux, Hydronephrosis, Microphthalmia, Iris coloboma ORPHA:250989
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Sparse eyebrow, Small nail, Microphthalmia OMIM:612530
Pelvis-Shoulder Dysplasia
Microcornea, Bilateral microphthalmos, Facial hirsutism, Hydronephrosis, Iris coloboma ORPHA:2839
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, M... OMIM:617729
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Hypospadias, Cafe-au-lait spot, Microphthalmia OMIM:619148
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Hypoplastic nipples, Microphthalmia OMIM:156610
Pallister-Hall Syndrome
Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati... OMIM:146510
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Hydronephro... OMIM:214100
Meckel Syndrome, Type 2
Renal cyst, Microphthalmia OMIM:603194
2Q31.1 Microdeletion Syndrome
Abnormal hair morphology, Hypoplastic toenails, Low anterior hairline, Microphthalmia, Iris colob... ORPHA:251014
Cowden Syndrome
Abnormal penis morphology, Cataract, Follicular thyroid carcinoma, Hypopigmented skin patches, Go... ORPHA:201
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait spots, Aplasia/H... ORPHA:2637
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Fanconi Anemia, Complementation Group R
Pelvic kidney, Microphthalmia OMIM:617244
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Cataract, Posterior synechiae of the anterior chamber, Beta 2-microglobulinuria, S... ORPHA:91500
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Lumbar hypertrichosis, Vesicoureteral reflux, Nail dystrophy, Low posterior ... ORPHA:163956
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko l... OMIM:210720
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Decreased corneal thickness, Corneal dystroph... ORPHA:90354
Ohdo Syndrome, X-Linked
Sparse eyebrow, High anterior hairline, Microphthalmia, Micropenis, Cafe-au-lait spot OMIM:300895
Treacher-Collins Syndrome
Cataract, Iris coloboma, Abnormal hair morphology, Low anterior hairline, Absent eyelashes, Hypop... ORPHA:861
Neuroocular Syndrome 1
Cataract, Microcornea, Highly arched eyebrow, Peters anomaly, Small nail, Long eyelashes, Thick e... OMIM:619539
Histiocytoid Cardiomyopathy
Hypoglycemia, Megalocornea, Congenital aphakia, Renal cyst, Corneal opacity, Microphthalmia ORPHA:137675
Kindler Syndrome
Symblepharon, Spotty hyperpigmentation, Ridged nail, Phimosis, Spotty hypopigmentation, Corneal e... OMIM:173650
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria OMIM:612073
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Microphthalmia, Micropenis, Hypospadias, Synophrys OMIM:603457
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Alopecia, Irregular hyperpigmentation, Renal insuffi... ORPHA:90291
Proboscis Lateralis
Cataract, Microcornea, Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis,... ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Optic nerve hypoplasia, Peters anomaly, Microphthalmia OMIM:614643
Curry-Jones Syndrome
High anterior hairline, Hirsutism, Iris coloboma, Microphthalmia OMIM:601707
Meckel Syndrome, Type 4
Renal cyst, Microphthalmia OMIM:611134
Cousin Syndrome
Microcornea, Facial hirsutism, Low anterior hairline, Hydronephrosis, Microphthalmia OMIM:260660
Sympathetic Ophthalmia
Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterior chamber, Corneal ... ORPHA:79098
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cataract, Abnormal hair morphology, Leukonychia, Anophthalmia, Melanonychia, Abnormal toenail mor... ORPHA:2526
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Peters anomaly, Small nail, Vesicoureteral reflux, Renal cyst, Broad eyebrow, Multiple cafe-au-la... OMIM:616975
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin ORPHA:79456
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Microphthalmia, Iris col... OMIM:115470
Alkaptonuria
Aminoaciduria, Irregular hyperpigmentation, Elevated urinary homogentisic acid, Dark urine, Nephr... ORPHA:56
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Microphthalmia OMIM:619135
Frontofacionasal Dysplasia
Cataract, Microcornea, Absent inner eyelashes, Microphthalmia, Iris coloboma OMIM:229400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Vacterl With Hydrocephalus
Microcornea, Renal agenesis, Anophthalmia, Renal hypoplasia/aplasia, Microphthalmia ORPHA:3412
Meckel Syndrome
Cataract, Microcornea, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the iris, Anophthalmia... ORPHA:564
Dubowitz Syndrome
Iris coloboma, Sparse lateral eyebrow, Hypoplasia of the iris, Megalocornea, Microphthalmia, Hypo... OMIM:223370
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes OMIM:609136
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Renal hypoplasia, Hypoplasia of the ovary, Generalized hypopigmentation, Micropenis, Op... OMIM:619321
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Fine hair, Oroticaciduria, Stage 5 chronic kidney disease, Sparse ... OMIM:222700
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria ORPHA:431361
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Sotos Syndrome
Cataract, Hypopigmentation of the skin, Renal agenesis, Small nail, Sparse anterior scalp hair, R... ORPHA:821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Microphthalmia OMIM:253800
Orotic Aciduria
Oroticaciduria, Hematuria, Orotic acid crystalluria OMIM:258900
Mend Syndrome
Spotty hypopigmentation, Cataract, Microphthalmia ORPHA:401973
Mycophenolate Mofetil Embryopathy
Iris coloboma, Ectopic kidney, Hypoplastic toenails, Microphthalmia ORPHA:268249
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Microphthalmia, Corneal opacity, Ectopia pupillae OMIM:608940
Jacobsen Syndrome
Iris coloboma, Microcornea, Macular hypoplasia, Microphthalmia, Abnormal eyelash morphology, Hypo... OMIM:147791
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Alström Syndrome
Chronic kidney disease, Frontal balding, Decreased circulating T4 concentration, Hyperinsulinemia... ORPHA:64
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency, Microphthalmia OMIM:608091
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Adrenal hypoplasia, Microphthalmia, Micropenis OMIM:264480
Rothmund-Thomson Syndrome, Type 3
Spotty hypopigmentation, Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair OMIM:615789
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... OMIM:619743
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Microphthalmia, Micropenis, Cafe-au-lait spot OMIM:614083
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Developmental cataract, Microphthalmia OMIM:127000
Liver Disease, Severe Congenital
Aminoaciduria, Dry hair, Recurrent urinary tract infections, Hyperechogenic kidneys, Nail dystrop... OMIM:619991
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Microphthalmia, Dela... ORPHA:649
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Renal hypoplasia, Hypothyroidism, Microphthalmia, Sparse hair OMIM:620005
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Neonatal hypoglycemia, Hypoglycemia OMIM:619055
Biotinidase Deficiency
Conjunctivitis, Alopecia, Organic aciduria OMIM:253260
Aicardi Syndrome
Precocious puberty, Sparse lateral eyebrow, Abnormality of retinal pigmentation, Delayed puberty,... ORPHA:50
Mend Syndrome
Cataract, Crossed fused renal ectopia, Anterior polar cataract, Spotty hypopigmentation, Macular ... OMIM:300960
Mosaic Trisomy 20
Horseshoe kidney, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin, Abnormality of... ORPHA:1724
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple, Iris coloboma, Microphthalmia ORPHA:1236
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Iris coloboma, Renal hypoplasia, Renal agenesis, Hypertrichosis, Horseshoe kidney, Microphthalmia... ORPHA:508498
Infantile Krabbe Disease
Hypopigmented skin patches ORPHA:206436
Tetragametic Chimerism
Micropenis, Perineal hypospadias, Hypopigmented skin patches ORPHA:199310
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Small nail, Thin eyebrow, Corneal opacity, Microphthalmia, Cafe-au-lait spot, Synophrys OMIM:608670
Familial Tumoral Calcinosis
Nephrocalcinosis, Hypopigmented skin patches ORPHA:53715
Wilson Disease
Aminoaciduria, Sunflower cataract, Glycosuria, Kayser-Fleischer ring, Hyperphosphaturia, Renal tu... OMIM:277900
22Q11.2 Deletion Syndrome
Cataract, Renal hypoplasia, Hypopigmented skin patches, Vesicoureteral reflux, Corneal neovascula... ORPHA:567
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Sparse eyebrow, Sparse eyelashes, Microphthalmia, Widow's peak ORPHA:306542
Monosomy 9Q22.3
Cataract, Nephroblastoma, Microphthalmia ORPHA:77301
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Abnormal localization of kidney, Renal hypoplasia/aplasia, Adrenal hypoplasia, Micro... ORPHA:2166
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Brittle hair OMIM:616084
Spondyloenchondrodysplasia With Immune Dysregulation
Vitiligo, Hypothyroidism, Tubulointerstitial fibrosis, Hypermelanotic macule, Hypopigmented skin ... OMIM:607944
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia, Lacticaciduria OMIM:620451
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Conjunctival icterus, Bilateral fetal pyelectas... OMIM:606812
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Type I diabetes mellitus, Punctate keratitis, Renal Fanconi syndrome, ... OMIM:557000
Fryns Syndrome
Renal agenesis, Small nail, Facial hirsutism, Hydronephrosis, Renal cyst, Anonychia, Microphthalm... OMIM:229850
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Iris coloboma, Sparse eyebrow, Absent nipple, Small nail, Congenital hypothyroidism, Nail dystrop... OMIM:620186
Renpenning Syndrome 1
Cataract, Renal hypoplasia, Sparse lateral eyebrow, Brittle hair, Phimosis, Microphthalmia, Spars... OMIM:309500
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Microphthalmia, Syndromic 2
Hypospadias, Microcornea, Adrenal insufficiency, Thick eyebrow, Anophthalmia, Laterally curved ey... OMIM:300166
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Decreased response to growth hormone stimulati... ORPHA:470
Combined Oxidative Phosphorylation Deficiency 19
Lacticaciduria OMIM:615595
Roberts Syndrome
Cataract, Long penis, Microphthalmia, Sparse hair, Polycystic kidney dysplasia ORPHA:3103
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis OMIM:617913
Branchiooculofacial Syndrome
Cataract, Hypospadias, Renal agenesis, Premature graying of hair, Supernumerary nipple, Ectopic t... OMIM:113620
Tetraamelia Syndrome 1
Cataract, Renal agenesis, Adrenal gland agenesis, Urethral atresia, Microphthalmia OMIM:273395
Basal Cell Nevus Syndrome 1
Cataract, Iris coloboma, Microphthalmia OMIM:109400
Pitt-Hopkins Syndrome
Micropenis, Hypopigmented skin patches, Astigmatism, Supernumerary nipple ORPHA:2896
Monosomy 9P
Highly arched eyebrow, Thick eyebrow, Ureteropelvic junction obstruction, Low posterior hairline,... ORPHA:261112
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Anop... ORPHA:2538
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Sparse eyebrow, Microphthalmia OMIM:616300
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Ureterocele, Low anterior hairline, Microphthalmia, Hypospadias, Synophrys OMIM:616734
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Cataract, Galactosuria, Organic aciduria ORPHA:85276
Steinfeld Syndrome
Iris coloboma, Unilateral renal dysplasia, Microphthalmia OMIM:184705
Amish Lethal Microcephaly
Organic aciduria ORPHA:99742
Argininemia
Oroticaciduria, Diaminoaciduria OMIM:207800
Biotinidase Deficiency
Conjunctivitis, Alopecia, Organic aciduria ORPHA:79241
Yunis-Varon Syndrome
Aplasia/Hypoplasia of the nails, Cataract, Sparse eyebrow, Bilateral microphthalmos, Renal artery... ORPHA:3472
Witteveen-Kolk Syndrome
Cataract, Hypospadias, High anterior hairline, Medial flaring of the eyebrow, Microphallus, Male ... OMIM:613406
Myhre Syndrome
Cataract, Fine hair, Thick eyebrow, Microphthalmia, Sparse hair OMIM:139210
Meckel Syndrome 14
Polycystic kidney dysplasia, Microphthalmia OMIM:619879
Microphthalmia, Syndromic 9
Renal hypoplasia, Bilateral microphthalmos, Horseshoe kidney, Anophthalmia, Hydronephrosis, Pelvi... OMIM:601186
Aicardi Syndrome
Precocious puberty, Cataract, Sparse lateral eyebrow, Microphthalmia OMIM:304050
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Momo Syndrome
Bilateral microphthalmos, Hyperconvex nail ORPHA:2563
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Bilateral microphthalmos, Abnormal circulating follicle-stimulatin... ORPHA:93325
Monosomy 13Q14
Cataract, Iris coloboma, Microphthalmia ORPHA:1587
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/Hypoplasia of the nails, Popliteal pterygium, Horseshoe kidney, Micropenis, Microphthalmi... OMIM:609945
Fontaine Progeroid Syndrome
Absent nipple, Coarse hair, Small nail, Hypertrichosis, Low anterior hairline, Low posterior hair... OMIM:612289
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Megalocornea, Hypoplasia of the retina, Microphthalmia, Buphthalmos, Opacification of t... OMIM:253280
Holoprosencephaly 7
Bilateral microphthalmos, Panhypopituitarism, Microphthalmia, Iris coloboma, Synophrys OMIM:610828
Charge Syndrome
Highly arched eyebrow, Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Hydronephrosis, Hyp... ORPHA:138
Townes-Brocks Syndrome
Cataract, Iris coloboma, Hypospadias, Renal hypoplasia, Renal insufficiency, Vesicoureteral reflu... ORPHA:857
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Iris coloboma, Microphthalmia ORPHA:3186
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypospadias, 3-hydroxydicarboxylic aciduria, Hypoglycemia, Lacticaciduria OMIM:252010
Pallister-Killian Syndrome
Hyperpigmented streaks, Cataract, Sparse eyebrow, Hypopigmentation of the skin, Alopecia, Supernu... OMIM:601803
Holoprosencephaly 1
Hypoglycemia, Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus OMIM:236100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Highly arched eyebrow, Frontal balding, Nuclear pulverulent cataract, Long lower eyelas... OMIM:612474
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Nail dystrophy, Glomerulonephritis, Hyperinsulinemic hypoglyc... ORPHA:2968
Pmm2-Cdg
Insulin resistance, Cataract, Elevated circulating thyroid-stimulating hormone concentration, Inc... ORPHA:79318
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia, Lacticaciduria ORPHA:3008
Meckel Syndrome, Type 1
Iris coloboma, Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Adrenal hypo... OMIM:249000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Low posterior hairline, Microphthalmia OMIM:617925
Fraser Syndrome 1
Renal hypoplasia, Small nail, Bilateral microphthalmos, Extension of hair growth on temples to la... OMIM:219000
Chromosome 13Q14 Deletion Syndrome
Micropenis, Supernumerary nipple, Iris coloboma, Microphthalmia OMIM:613884
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Ethylmalonic aciduria, 3-Methylglutaconic aciduria OMIM:203700
Charge Syndrome
Cataract, Renal hypoplasia, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Renal agene... OMIM:214800
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Organic aciduria OMIM:301310
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Ectopic kidney, Testicular atrophy, Synophrys, Hypospadias, Patchy hypo- and hype... ORPHA:3063
Microphthalmia With Limb Anomalies
Horseshoe kidney, Abnormal eyebrow morphology, True anophthalmia, Microphthalmia ORPHA:1106
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Renal tubular acidosis OMIM:616457
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Abnormal renal tubule morphology, Multiple glomerular cysts, Lacticaciduria ORPHA:255210
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Bilateral mi... ORPHA:468631
Mowat-Wilson Syndrome
Cataract, Microcornea, Hypospadias, Ectopia pupillae, Supernumerary nipple, Broad eyebrow, Abnorm... OMIM:235730
Microphthalmia, Syndromic 6
Microcornea, Renal hypoplasia, Anterior hypopituitarism, Anophthalmia, Hypothyroidism, Adrenal hy... OMIM:607932
Interstitial Lung And Liver Disease
Aminoaciduria, Hypothyroidism OMIM:615486
Kanzaki Disease
Aminoaciduria, Tortuosity of conjunctival vessels, Increased urinary O-linked sialopeptides OMIM:609242
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Hypospadias, Unilateral renal agenesis, ... ORPHA:672
Roberts-Sc Phocomelia Syndrome
Sparse hair, Cataract, Hypospadias, Long penis, Horseshoe kidney, Corneal opacity, Microphthalmia... OMIM:268300
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Neu-Laxova Syndrome 1
Cataract, Renal agenesis, Pterygium, Absent eyelashes, Microphthalmia OMIM:256520
Adams-Oliver Syndrome 1
Supernumerary nipple, Alopecia, Small nail, Microphthalmia OMIM:100300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Fraser Syndrome
Abnormality of the urinary system, Anophthalmia, Renal hypoplasia/aplasia, Abnormal hair pattern,... ORPHA:2052
Citrullinemia, Classic
Oroticaciduria OMIM:215700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Oroticaciduria OMIM:620358
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Ectopia pupillae, Axenfeld anomaly, Chordee, Microphthalmia, Urinar... ORPHA:261552
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria OMIM:311250
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Highly arched eyebrow, Bilateral micropht... ORPHA:508488
Mowat-Wilson Syndrome
Webbed penis, Cataract, Multicystic kidney dysplasia, Hypospadias, Horizontal eyebrow, Vesicouret... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Cataract, Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Astigma... ORPHA:261537
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Oroticaciduria ORPHA:415
Holoprosencephaly 2
Anterior pituitary agenesis, Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, Iris coloboma OMIM:157170
Treacher Collins Syndrome 1
Preauricular hair displacement, Sparse lower eyelashes, Bilateral microphthalmos OMIM:154500
Hydrolethalus Syndrome 1
Hydronephrosis, Adrenal gland dysgenesis, Hypospadias, Microphthalmia OMIM:236680
Microphthalmia, Syndromic 1
Hypospadias, Microcornea, Renal hypoplasia, Hydroureter, Ciliary body coloboma, Anophthalmia, Ren... OMIM:309800
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Limbal dermoid, Vesicoureteral reflux, Anophthalmia... OMIM:164210
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Maturity-onset diabetes of the young ORPHA:1578

Histopathology

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

There is no histopathology data for Pcbd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pcbd1.

No publications found that use IMPC mice or data for Pcbd1.

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MGI Allele Allele Type Produced
Pcbd1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pcbd1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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