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Gene: Efna5 MGI:107444

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Gene Summary

Name:
ephrin A5
Synonyms:
LERK-7,  Ephrin-A5,  AL-1,  RAGS,  Epl7,  EFL-5

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased fasting circulating glucose level Efna5tm1b(EUCOMM)Wtsi HOM Early adult 4.84×10-07
corneal opacity Efna5tm1b(EUCOMM)Wtsi HOM Early adult 5.63×10-05
hydrometra Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
cataract Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.55×10-05
irregularly shaped pupil Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.69×10-05
decreased grip strength Efna5tm1b(EUCOMM)Wtsi HOM Early adult 7.46×10-05
male infertility Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
hyperactivity Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.10×10-09
polycystic kidney Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased thigmotaxis Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.49×10-05
abnormal cornea morphology Efna5tm1b(EUCOMM)Wtsi HOM Early adult 5.58×10-05
enlarged uterus Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal lens morphology Efna5tm1b(EUCOMM)Wtsi HOM Early adult 6.20×10-24
abnormal behavior Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.49×10-05
enlarged adrenal glands Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged kidney Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased locomotor activity Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.12×10-05
increased anxiety-related response Efna5tm1b(EUCOMM)Wtsi HOM Early adult 6.31×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Electrocardiogram (ECG)

Waveform Image

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Human diseases caused by Efna5 mutations

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

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

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

The table below shows human diseases predicted to be associated to Efna5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia ORPHA:3177
Schisis Association
Anencephaly, Encephalocele, Anal atresia, Spina bifida, Tracheoesophageal fistula, Microcephaly, ... ORPHA:63862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Gonadal dysgenesis, Type II lissencephaly, Neural tube defect OMIM:615041
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Anencephaly 2
Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate, Median cleft upper lip OMIM:619452
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia ORPHA:101029
Lissencephaly, X-Linked, 1
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria OMIM:300067
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Hydrolethalus
Gingival cleft, Anencephaly, Abnormal fallopian tube morphology, Hydrocephalus, Bifid uvula, Unil... ORPHA:2189
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Distal Deletion 13Q
Optic atrophy, Anencephaly, Encephalocele, Anal atresia, Microcephaly, Primary adrenal insufficie... ORPHA:1590
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate ORPHA:2476
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Morm Syndrome
Abnormality of the kidney, Hyperactivity, Cataract, Micropenis, Aggressive behavior ORPHA:75858
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Periventricular lamin... OMIM:611603
Spastic Paraparesis-Deafness Syndrome
Cataract, Gait disturbance, Ataxia, Hypogonadism ORPHA:2815
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Joubert Syndrome 13
Pachygyria OMIM:614173
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Diprosopus
Non-midline cleft of the upper lip, Cleft palate, Anencephaly ORPHA:1681
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-... OMIM:611134
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia, Eleva... OMIM:201910
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity ORPHA:2432
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Hypospadias, Dandy-Walker malformation, Bifid uvula, Cleft ... OMIM:614175
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Anencephaly, Agenesis of corpus callosum OMIM:614120
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Aplas... ORPHA:1908
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency, Anencephaly ORPHA:1048
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Testicular seminoma, Corneal opacity, Hypogonadism, Attention deficit ... ORPHA:281090
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Bifid scrotum, Pulmonic stenosis, Microcephaly, Penoscrotal transposition, Advanced ... OMIM:619148
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Dermoids Of Cornea
Corneal opacity OMIM:304730
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Galactosialidosis
Corneal opacity ORPHA:351
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Bile duct proliferation, Inte... OMIM:603194
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Bile duct proliferation, Cleft upper lip, Cleft palate OMIM:611561
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Acth-Independent Macronodular Adrenal Hyperplasia
Agitation, Decreased circulating ACTH concentration, Depression, Emotional lability, Macronodular... OMIM:219080
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Cleft palate, Hydranencephaly OMIM:601355
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity ORPHA:1980
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Increased serum serotonin, Cataract ORPHA:85288
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma, Cataract, Iris coloboma ORPHA:1473
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Depression, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism,... OMIM:615830
Phenylketonuria
Irritability, Increased level of hippuric acid in urine, Hyperactivity, Depression, Elevated urin... OMIM:261600
Wagro Syndrome
Hypoplastic female external genitalia, Agitation, Aniridia, Emotional lability, Low frustration t... OMIM:612469
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Neuroendocrine neoplasm, Glucose intolerance, Decreased circulating ACTH concentration, Depressio... ORPHA:189427
Peroxisome Biogenesis Disorder 2A (Zellweger)
Clitoral hypertrophy, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Brushf... OMIM:214110
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Hypospadias, Hypoplasia of penis, Non-midline cleft of the ... ORPHA:887
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Hyperglyc... OMIM:615954
1Q21.1 Microduplication Syndrome
Attention deficit hyperactivity disorder, Cryptorchidism, Hypospadias, Cataract ORPHA:250994
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Hydranencephaly, Multinucleated neuron, Neonatal death, Cerebellar hypoplasia, Hypopl... OMIM:236500
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Corneal opacity, Developmental cataract, Cryptorchidism, Micropenis OMIM:618815
Winchester Syndrome
Corneal opacity OMIM:277950
Bardet-Biedl Syndrome 10
Hypogonadism, Renal insufficiency, Renal cyst OMIM:615987
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly, Cleft pa... OMIM:225790
Chudley-Mccullough Syndrome
Polymicrogyria, Gray matter heterotopia OMIM:604213
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Athetosis, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperplasia, Hyperald... ORPHA:369929
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Familial Hyperaldosteronism Type I
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Se... ORPHA:403
Cataract 42
Cataract, Developmental cataract OMIM:115900
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Microcephaly, Cerebral cortical atrophy, Holoprosencephaly, Aplasia/Hypoplasia o... ORPHA:2570
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Microhydranencephaly
Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Pachygyria, Cerebellar hypoplasia, Hy... OMIM:605013
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hypera... ORPHA:251274
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Parathyroid carcinoma, Polycystic kidney dysplasia, Nephrolithiasis, Papi... OMIM:145001
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Thin corpus callosum, Cerebral calcification, Everted lower lip vermilion, Corpus callosum atroph... OMIM:620371
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia ORPHA:1532
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Opacification of the corneal stroma, Polycystic ovaries, Decreased fertilit... ORPHA:1643
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia OMIM:271310
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Abnormal internal genitalia, Bile duct proli... OMIM:612284
Morquio Syndrome C
Corneal opacity OMIM:252300
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyp... OMIM:613677
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys OMIM:613885
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Trisomy 18
Narrow palate, Anencephaly, Esophageal atresia, Non-midline cleft of the upper lip, Cachexia, Nar... ORPHA:3380
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn... OMIM:231680
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Abnormal circulating testosterone concentration, Infertility, Oligozoospermi... ORPHA:786
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)
Perisylvian polymicrogyria OMIM:615752
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit h... OMIM:619927
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Stage 5 c... OMIM:615993
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur... OMIM:608836
Cystinosis
Polydipsia, Delayed puberty, Nephropathy, Corneal opacity, Gait disturbance, Nephrogenic diabetes... ORPHA:213
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Premature ovarian insufficiency, Unsteady gait, Secondary amenorrhea OMIM:620312
Pentalogy Of Cantrell
Orofacial cleft, Anencephaly, Encephalocele, Hypospadias, Hydrocephalus, Non-midline cleft of the... ORPHA:1335
Erythrokeratodermia Variabilis
Cataract, Diabetes mellitus, Corneal opacity, Abnormal testis morphology ORPHA:317
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Agitation, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract, Chorioretinal... OMIM:152950
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis... OMIM:103900
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal external genitalia, Corneal dyst... ORPHA:314588
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Gait disturbance, Decreased testicular size, Hypogonadism, Cataract ORPHA:1875
Trichomegaly
Cataract OMIM:190330
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Thick anterior alveolar ridges, Spina bifida, Cleft palate, Micro... ORPHA:2839
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Meckel Syndrome 13
Polycystic kidney dysplasia, Ataxia OMIM:617562
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Secondary amenorrhea, Compulsive behaviors, Ren... ORPHA:488618
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma, Cryptorchidism ORPHA:461
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic kidney dysplasia, Abnormal lo... ORPHA:1988
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenos... ORPHA:261290
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal... OMIM:240950
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Aniridia, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of th... OMIM:194072
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Nephronophthisis 11
Polydipsia, Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Anisocoria, Ren... OMIM:613550
Glycine Encephalopathy 1
Irritability, Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Lethargy, Aggressive beh... OMIM:605899
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the corpus callosum, Anencephaly, Hydrocephalus, Cerebellar vermis hypoplasia, Poly... OMIM:616546
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux... ORPHA:2237
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract, Irritability, Difficulty walking, Motor stereotypy OMIM:617393
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Ataxia, Dysphagia, Depression ORPHA:329314
Hartnup Disorder
Hyperactivity, Emotional lability, Episodic ataxia, Attention deficit hyperactivity disorder, Ele... OMIM:234500
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Hepatosplenomega... OMIM:619902
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Fryns Microphthalmia Syndrome
Tessier cleft, Neural tube defect, Bilateral cleft palate, Unicornuate uterus, Bilateral cleft lip OMIM:600776
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Corneal opacity, Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney ... OMIM:166300
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteron... ORPHA:231580
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency, Aminoaciduria ORPHA:2278
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Hypogonadism ORPHA:2528
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Steppage ga... ORPHA:168563
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Proteus-Like Syndrome
Thymus hyperplasia, Heterochromia iridis, Splenomegaly, Cataract, Limbal dermoid, Polycystic ovar... ORPHA:2969
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Type II diabetes mellitus, Ataxia, Cata... ORPHA:2377
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cataract, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Usher Syndrome Type 3
Astigmatism, Depression, Iris hypopigmentation, Ataxia, Cataract ORPHA:231183
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Galactosemia Iv
Cataract, Hepatomegaly OMIM:618881
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Increased urinary disaccharide excretion, Tortuosity of conjunctival vessels, Aggr... OMIM:248510
Alexander Disease
Dysmetria, Ataxia, Microcoria OMIM:203450
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Gait disturbance, Decreased serum testosterone concentration, Ca... ORPHA:101006
Woolly Hair Nevus
Precocious puberty, Persistent pupillary membrane, Heterochromia iridis ORPHA:79414
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Ataxia, Splenomegaly, Nephropathy ORPHA:87876
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Azoospermia, Bicornuate uterus, Renal agenesis, Aplasia/hypoplasia of the uterus,... ORPHA:2578
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Hyperactivity, Frequent temper tantrums, Impulsivity, Hydronephrosis, Develop... OMIM:620141
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Hepatomegaly, Hypospadias, Polycystic kidney dysplasia, Athetosis, Hypoplas... OMIM:614866
Senior-Loken Syndrome
Premature ovarian insufficiency, Nephronophthisis, Ataxia, Chronic kidney disease, Cataract, Stag... ORPHA:3156
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hyperglycinuria, Ataxia, Hydroxyprolinuria, Motor stereotypy, Aggressi... OMIM:239500
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Hypoplastic nipples, Median cleft palate, Intestinal malrotation, Nat... OMIM:269860
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Short hard palate, Cerebral calcification, Glossoptosis, Porencepha... ORPHA:1393
Meckel Syndrome
Optic atrophy, Anencephaly, Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Hydrocephal... ORPHA:564
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Gray matter heterotopia OMIM:600348
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Anal atresia, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Juvenile Sialidosis Type 2
Abnormality of the kidney, Hepatomegaly, Corneal opacity, Visceromegaly, Ataxia, Dysphagia, Loss ... ORPHA:93399
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, 3-Methylglutaconic aciduria, Delayed puberty, Corneal opacity, Gait ataxia, Catarac... ORPHA:496790
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Tuberous Sclerosis Complex
Hyperactivity, Pheochromocytoma, Impulsivity, Pituitary adenoma, Parathyroid adenoma, Stage 5 chr... ORPHA:805
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Urinary incontinence, Difficulty walking, Broad-based gait, Trunc... ORPHA:320391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malforma... OMIM:615287
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Iniencephaly
Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Narrow mou... ORPHA:63259
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Bicornuate uterus OMIM:263210
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Thoracoabdominal Syndrome
Anencephaly, Hypospadias, Hydrocephalus, Cleft upper lip, Cleft palate OMIM:313850
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Meckel Syndrome, Type 1
Occipital encephalocele, Ambiguous genitalia, male, Anencephaly, Intestinal malrotation, Microcep... OMIM:249000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... OMIM:263200
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Hec Syndrome
Developmental cataract, Abnormal pupil morphology, Vaginal hydrocele ORPHA:2119
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Renal agenesis, Hydrocolpos, Uterus didelphys, Dysmenorrhea,... ORPHA:3411
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Müllerian Aplasia And Hyperandrogenism
Short philtrum, Abnormal vagina morphology, Abnormality of the ovary, Obesity, Cleft palate, Prim... ORPHA:247768
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Congenital Rubella Syndrome
Hepatomegaly, Aplasia/Hypoplasia of the iris, Corneal opacity, Splenomegaly, Cataract, Type I dia... ORPHA:290
Zellweger Syndrome
Abnormal chorioretinal morphology, Clitoral hypertrophy, Hepatomegaly, Hypospadias, Corneal opaci... ORPHA:912
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Increased proinsul... OMIM:106210
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Cleft palate, Bifid uvula, Bicornuate uterus OMIM:258320
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Anencephaly, Hypospadias, Short philtrum, Primary hypothyroidism, ... ORPHA:96176
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Mucolipidosis Iv
Opacification of the corneal stroma, Hypergastrinemia, Corneal opacity OMIM:252650
H Syndrome
Corneal arcus, Abnormality of the kidney, Enlarged kidney, Delayed puberty, Azoospermia, Decrease... ORPHA:168569
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma ORPHA:2489
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria, Chorioretinal coloboma, Iris coloboma OMIM:120433
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Blue irides, Self-mutilation, Aggressive b... OMIM:615516
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Inability to walk, Polycystic kidney dysplasia, Ethylmalonic aci... ORPHA:26791
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Dysphagia, Enuresis, Aggressive behavior ORPHA:289483
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Developmental glaucoma, Hepatomeg... OMIM:610199
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Depression, Hypergonadotropic hypogonadism OMIM:614307
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Attention deficit hyperactivit... ORPHA:3000
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
4H Leukodystrophy
Delayed puberty, Decreased response to growth hormone stimulation test, Abnormality of thyroid ph... ORPHA:289494
Familial Dysautonomia
Abnormality of the kidney, Glomerulopathy, Corneal erosion, Corneal opacity, Heterochromia iridis... ORPHA:1764
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Harel-Yoon Syndrome
Inability to walk, Developmental cataract, Corneal opacity, Ataxia OMIM:617183
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Alagille Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Hepatomegaly, Keratoconus, Corneal dystrophy, Abnormal... ORPHA:52
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Joubert Syndrome 20
Inability to walk, Self-mutilation, Renal cyst, Aggressive behavior OMIM:614970
Norrie Disease
Delayed puberty, Irritability, Abnormal chorioretinal morphology, Erectile dysfunction, Uterine r... ORPHA:649
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Cousin Syndrome
Ambiguous genitalia, male, Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Cleft pal... OMIM:260660
Alpha-Mannosidosis, Adult Form
Depression, Corneal opacity, Ataxia, Hepatosplenomegaly, Cataract, Oligosacchariduria ORPHA:309288
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Hereditary Leiomyomatosis And Renal Cell Cancer
Papillary renal cell carcinoma type 2, Vaginal neoplasm, Uterine leiomyosarcoma, Cataract, Uterin... ORPHA:523
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Mydriasis, Progressive cerebellar ataxia, Truncal ataxia, Type II diabetes mellitus,... ORPHA:247815
Bardet-Biedl Syndrome 9
Polydipsia, Astigmatism, Polyphagia, Hyperglycemia, Cataract, Renal insufficiency, Irregular mens... OMIM:615986
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Self-injurious behavior, Corneal opacity, Gait disturbance OMIM:620469
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Usher Syndrome Type 1
Cataract, Iris hypopigmentation, Ataxia, Depression ORPHA:231169
Hyperlysinemia, Type I
Argininuria, Hyperactivity, Dysdiadochokinesis, Ornithinuria, Ectopia lentis, Hyperlysinuria, Hom... OMIM:238700
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Alpha-Mannosidosis
Hepatomegaly, Corneal opacity, Splenomegaly, Type II diabetes mellitus, Cataract ORPHA:61
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Renal Hypoplasia, Bilateral
Astigmatism, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuri... ORPHA:97362
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, Cryptorchidism ORPHA:1867
Cach Syndrome
Limb ataxia, Gonadal dysgenesis, Irritability, Premature ovarian insufficiency, Secondary amenorr... ORPHA:135
Osteoporosis-Pseudoglioma Syndrome
Waddling gait, Isosexual precocious puberty, Loss of ambulation, Corneal opacity ORPHA:2788
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Cryptorchidism ORPHA:1381
Floating-Harbor Syndrome
Impulsivity, Nephrocalcinosis, Congenital posterior urethral valve, Epididymal cyst, Stage 5 chro... ORPHA:2044
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Trisomy X
Premature ovarian insufficiency, Renal hypoplasia/aplasia, Depression, Secondary amenorrhea, Prec... ORPHA:3375
Leber Congenital Amaurosis 1
Hepatomegaly, Eye poking, Keratoconus, Hyperthreoninuria, Cataract OMIM:204000
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Donnai-Barrow Syndrome
Iris coloboma, Bicornuate uterus, Proteinuria, Abnormality of the uterus ORPHA:2143
Hydrolethalus Syndrome 1
Stillbirth, Adrenal gland dysgenesis, Abnormal cortical gyration, Hypospadias, Anencephaly, Abnor... OMIM:236680
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Tongue thrusting, Broad-based gait, Polycystic kidney dysplasia, Vesic... OMIM:606232
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, 3-Methylglutaconic aciduria, Hypoglycemia, Cataract ORPHA:67048
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Ataxia, Cataract, Hypoglycemia, Hypogonadotropic hypogonadism, Dysmetria ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dysphagia, Cataract, Hypoglycemia, Cryptorchidism OMIM:618958
Ichthyosis, X-Linked
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism OMIM:308100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ... OMIM:146255
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypoparathyroidism, Nephrocalcinosis, Cataract, Decreased circulating parathyroid h... OMIM:146200
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Impaired glucose tolerance, Decreased numbe... OMIM:137920
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Sialidosis Type 1
Increased urinary O-linked sialopeptides, Corneal opacity, Gait disturbance, Urinary excretion of... ORPHA:812
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Iris hypopigmentation, Inappropriate laughter, Ataxia ORPHA:411515
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Cushing Disease
Amenorrhea, Depression, Emotional lability, Secondary amenorrhea, Impaired glucose tolerance, Adr... ORPHA:96253
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Uveitis, Shallow anterior chamber, L... OMIM:221900
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Gait disturbance, Sclerocor... OMIM:614170
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Microcephaly, Abnormality of the uterus, Ameno... ORPHA:3130
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Ataxia, Dysp... OMIM:222300
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Astigmatism ORPHA:35125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Depression, Gait disturbance, Dysphagia, Hypogonadism, Abnormali... OMIM:609286
Wagr Syndrome
Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri... ORPHA:893
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Nephrotic syndrome, Mesangial hypercellularity, Cataract, Focal segmental glomerulosclerosis OMIM:620425
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl... OMIM:601076
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Hyperactivity, Nephrolithiasis, Attention defi... OMIM:619827
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Thick lower lip vermilion, Small placenta, Swollen lip, Hydrane... OMIM:256520
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:79238
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Impaired glucose tolerance, Adrenal hyperplasia, Pulmonary carcinoid tumor, Med... ORPHA:99889
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification... ORPHA:314478
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ... ORPHA:650
Brachyolmia Type 1, Toledo Type
Increased urinary disaccharide excretion, Opacification of the corneal stroma, Gait disturbance OMIM:271630
Arima Syndrome
Polydipsia, Polyuria, Nephronophthisis, Hematuria, Hepatomegaly, Tubulointerstitial fibrosis, Pol... OMIM:243910
Microcephaly 20, Primary, Autosomal Recessive
Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at... OMIM:617914
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Hypospadias, Spina bifida ORPHA:3176
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Ren... OMIM:130650
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Hepatomegaly, Splenomegaly OMIM:608776
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Leber Congenital Amaurosis 8
Eye poking, Keratoconus, Chorioretinal atrophy, Choriocapillaris atrophy, Cataract OMIM:613835
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cys... OMIM:613095
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microcornea, Precocious puberty, Sclerocornea, Ectopia pupillae, Cataract OMIM:615877
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Pachygyria, Lissencephaly ORPHA:300573
Galactokinase Deficiency
Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Nuclear cataract, Hypergonadotro... ORPHA:79237
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Eye poking OMIM:204100
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Impotence, Cataract, Diabetes mell... OMIM:606069
Microphthalmia With Brain And Digit Anomalies
Microcornea, Abnormality of the hypothalamus-pituitary axis, Sclerocornea, Chorioretinal coloboma... ORPHA:139471
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Corneal... ORPHA:534
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Branchiootorenal Syndrome 1
Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ... OMIM:113650
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cleft palate, Primary amenorrhea, Cryptorchidis... OMIM:614880
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante... ORPHA:209959
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Urogenital... OMIM:273250
Martsolf Syndrome 2
Cataract, Developmental cataract, Hypogonadotropic hypogonadism OMIM:619420
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Left ventricular hypertrophy OMIM:613153
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis... ORPHA:263479
Oculocerebral Hypopigmentation Syndrome, Cross Type
Athetosis, Corneal opacity, Ureteral stenosis, Choroideremia, Iris hypopigmentation, Ataxia, Cata... ORPHA:2719
Lissencephaly 5
Subcortical band heterotopia, Type II lissencephaly, Gray matter heterotopia OMIM:615191
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Inability to walk, Focal segmental glomerulosclerosis, Nephrotic s... OMIM:617303
22Q11.2 Deletion Syndrome
Corneal neovascularization, Hypoparathyroidism, Hypospadias, Cholelithiasis, Depression, Polycyst... ORPHA:567
Wilson Disease
Difficulty walking, Hepatomegaly, Depression, Kayser-Fleischer ring, Splenomegaly, Abnormality of... ORPHA:905
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test, Polycoria, Hypospadias, Aniridia, Microcor... OMIM:180500
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Myoglobinuria, Polycys... ORPHA:157
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93476
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Polyphagia, Macroscopic hematuria, Proteinuria, Membranoprolife... ORPHA:251004
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Caroli Disease
Anorexia, Hepatomegaly, Conjunctival icterus, Cholelithiasis, Polycystic kidney dysplasia, Spleno... ORPHA:53035
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Hypospadias, Broad-based gait, Corneal dystrophy, Hypoplastic labia mino... ORPHA:495875
Bartsocas-Papas Syndrome
Popliteal pterygium, Renal hypoplasia/aplasia, Hypoplastic male external genitalia, Corneal opaci... ORPHA:1234
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Distal Deletion 12Q
Obsessive-compulsive trait, Annular pancreas, Maturity-onset diabetes of the young, Ectopic kidne... ORPHA:96149
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Cataract, Inability to walk, Motor stereotypy OMIM:619877
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Hyperactivity, Cryptorchidism, Congenital hypothyroidism, Diabetes mellitus, Blue ir... OMIM:614613
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis... OMIM:236700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Acute kidney injury, Glomerulopathy, Absent vas deferens, Abnormality of endocrine pa... ORPHA:93111
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Posterior embryotoxon, Proteinur... OMIM:610205
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depre... ORPHA:248111
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Hyperechogenic pancreas, Polycystic kidney dysplasia, Pancreatic c... OMIM:208540
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Unilateral renal agenesis, Aniridia ORPHA:1064
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia,... ORPHA:228308
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Hypoplasminogenemia
Duodenal ulcer, Abnormal fallopian tube morphology, Periodontitis, Hydrocephalus, Dandy-Walker ma... ORPHA:722
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Helsmoortel-Van Der Aa Syndrome
Irritability, Enlarged kidney, Astigmatism, Decreased response to growth hormone stimulation test... OMIM:615873
Prune Belly Syndrome
Decreased fertility, Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urin... ORPHA:2970
Uveal Melanoma
Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma ORPHA:39044
Alport Syndrome
Recurrent corneal erosions, Clitoral hypertrophy, Renal glomerular foam cells, Glomerular C3 depo... ORPHA:63
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis, Megacystis OMIM:619365
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Abnormal i... ORPHA:2369
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Clitoral hypertrophy, Hepatomegaly, Fasting hypoglycemia, Long... ORPHA:508
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele, Nephrolithiasis OMIM:301060
Congenital Sialidosis Type 2
Abnormality of the kidney, Hepatomegaly, Corneal opacity, Developmental cataract, Ataxia, Hepatos... ORPHA:93400
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Lens luxation, Chorioretinal atrophy, Vesicoureteral reflux, Mild pr... OMIM:120330
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Tooth agenesis, Cleft upper lip, Cleft palate, Agenesis of corpus callosum, Primary amenorrhea, C... OMIM:147950
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Emotional lability, Corneal scarri... OMIM:256800
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Neonatal hypoglycemia, Renal cyst, Hypothyroidism, Nephrocalcinosis,... ORPHA:445038
Hemimegalencephaly
Polymicrogyria, Gray matter heterotopia, Pachygyria ORPHA:99802
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis... OMIM:203780
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Cleft palate, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic h... OMIM:244200
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Hereditary Mucoepithelial Dysplasia
Hematuria, Abnormality of the bladder, Corneal dystrophy, Cataract, Abnormal morphology of female... ORPHA:1839
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy... ORPHA:3378
Meckel Syndrome 12
Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Antecubital pterygium, Vaginal a... OMIM:616258
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Supernumerary nipple, Pelvic kidney, Vesicoureteral reflux, Anisocoria, Hydro... OMIM:618653
Achalasia-Addisonianism-Alacrima Syndrome
Adrenocorticotropin receptor defect, Anisocoria, Decreased circulating cortisol level, Ataxia, De... OMIM:231550
Alg3-Cdg
Hypoplasia of the corpus callosum, Neural tube defect, Dandy-Walker malformation, Cerebral white ... ORPHA:79321
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Glycogen Storage Disease Ia
Delayed puberty, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Fasting hyp... OMIM:232200
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Hydronephrosis, Increased urine alpha-ketoglutara... ORPHA:79500
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Corneal opacity, Renal cyst, ... ORPHA:464311
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Charcot-Marie-Tooth Disease Type 1E
Steppage gait, Difficulty walking, Gait imbalance, Inability to walk, Gait disturbance, Anisocori... ORPHA:90658
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Hyperactivity, Depression, Ataxia, Self-in... OMIM:601853
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Aplasia of the bladder, Bicornuate uterus, Absent nipple, Unicornuat... OMIM:200980
Walker-Warburg Syndrome
Hypoplasia of penis, Microcornea, Corneal opacity, Chorioretinal dysplasia, Cataract, Cryptorchid... ORPHA:899
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Renal cyst, Vaginal atresia, Diabetes mellitus OMIM:605231
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Hypospadias, Bifid scrotum, Microphallus, Hypothyroidism, Dysmenorrhea, Abnormal ... ORPHA:397590
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Obsessive-compulsive trait, Astigmatism, Hypospadias, Hyperactivity, Low frustration tolerance, H... ORPHA:363686
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Myotonic Dystrophy 1
Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Cataract, Testicular atrophy OMIM:160900
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Miller Fisher Syndrome
Mydriasis, Ataxia, Dysphagia, Anisocoria ORPHA:98919
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Hepatomegaly, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Corn... OMIM:301056
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cataract, Cryptorchidism ORPHA:284160
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Donnai-Barrow Syndrome
Bicornuate uterus, Hypoplasia of the iris, Non-acidotic proximal tubulopathy, Proteinuria, Catara... OMIM:222448
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Cryptorchidism, Uterus didelphys, Abnormal penis ... ORPHA:1756
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity, Hematuria, Proteinuria, Nephropathy ORPHA:1765
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Depression, Ataxia, Type II diabetes mellitus, Hypogonadism, Cataract ORPHA:79095
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:79292
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Wound Botulism
Mydriasis, Urinary retention, Dysphagia ORPHA:178475
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Hepatomegaly, Hypothyroidism, Renal hypoplasia, Ataxia, Hypogonadism... ORPHA:254913
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Hyperactivity, Precocious puberty, Hypogonadism, M... ORPHA:3306
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Enlarged kidney, Hepatomegaly, Irregular menstruation, Tu... ORPHA:79259
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Small scr... OMIM:612651
Iatrogenic Botulism
Mydriasis, Urinary retention, Dysphagia ORPHA:254509
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia, Hyperglycemia, Diabetes mellitus OMIM:222100
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Astigmatism, Unilateral renal agenesis, Hypospadias, Hyperactivity, Pelvic kid... ORPHA:464306
Pituitary Apoplexy
Mydriasis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Red... ORPHA:95613
Mucolipidosis Type Iv
Corneal opacity, Ataxia, Gait disturbance ORPHA:578
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, C... ORPHA:99776
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Roberts Syndrome
Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Cataract, Cryptorchidism ORPHA:3103
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal... ORPHA:116
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Keratoconjunctivitis, Female... OMIM:240300
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Hyperactivity, Ol... ORPHA:8
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Hepatomegaly, Ataxia, Splenomegaly OMIM:230650
Meckel Syndrome 14
Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Hyperactivity, Neurogenic bladder, Impotence, Gait disturbance... ORPHA:43
Alg9-Cdg
Irritability, Enlarged kidney, Hepatomegaly, Hypoplasia of the ovary, Hypoplastic nipples, Bicorn... ORPHA:79328
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Microcornea, Female infertility, Amenorrhea, Increased circulati... OMIM:110100
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ... OMIM:602482
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Nephrolithiasis, Self-injurious behavior, Choreoathetosis, Aggr... OMIM:620023
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis OMIM:613091
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Neonatal hypoglycemia, Cardiomegaly, Enlarged kidney OMIM:261740
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Cryptorchidism, Iris coloboma OMIM:102500
Subependymal Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Gray matter heterotopia ORPHA:101030
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithi... OMIM:232220
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Acalvaria
Abnormality of neuronal migration ORPHA:945
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Neurogenic bladder, Dysphagia, Dysmetria OMIM:619780
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Bicornuate uterus, Proteinuria, Vaginal atresia, Primary amenorrhea, Re... OMIM:191830
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior... ORPHA:228402
Tetraamelia-Multiple Malformations Syndrome
Microcornea, Vaginal atresia, Cataract, Cryptorchidism, Multicystic kidney dysplasia, Iris coloboma ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... OMIM:228300
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabsorption... OMIM:604278
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Leiomyomatosis, Diffuse, With Alport Syndrome
Lenticonus, Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane... OMIM:308940
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Enlarged kidney, Hepatomegaly, Megalocornea, Mucopolysacchariduria, Splenomegaly, C... OMIM:252500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Sanjad-Sakati Syndrome
Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Corneal opac... ORPHA:2323
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Cri-Du-Chat Syndrome
Abnormality of the kidney, Difficulty walking, Hypospadias, Hyperactivity, Oppositional defiant d... OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology, Anisocoria OMIM:300858
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Congenital aphakia, Renal cyst, Megalocornea, Cardiomegaly, Hypogl... ORPHA:137675
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Astigmatism, Cataract, Bifid ureter, Nephroblastoma, Renal malrotation, Multicys... ORPHA:500095
Burkitt Lymphoma
Neoplasm of the oral cavity, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of ... ORPHA:543
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypothyroidism, Hypoplasia of penis ORPHA:2491
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Duplication Of Urethra
Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R... ORPHA:237
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Sclerocornea, Micropenis, Cataract, Peters... OMIM:309801
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Knobloch Syndrome 1
Iris transillumination defect, Duplicated collecting system, Band keratopathy, Chorioretinal atro... OMIM:267750
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Mody
Abnormality of the kidney, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Renal c... ORPHA:552
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism OMIM:601794
3Mc Syndrome 3
Penoscrotal hypospadias, Bifid scrotum, Corneal opacity, Cryptorchidism, Micropenis, Horseshoe ki... OMIM:248340
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Gait disturbance ORPHA:3270
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Renal agenesis, Vaginal atresia, Urethral atresia, Cataract, Ad... OMIM:273395
Trichinellosis
Irritability, Anisocoria, Conjunctival hyperemia, Abnormal uvea morphology, Dysphagia, Conjunctiv... ORPHA:863
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Ataxia, Dysphagia, Anisocoria OMIM:615510
Classic Phenylketonuria
Attention deficit hyperactivity disorder, Self-injurious behavior, Depression, Cataract ORPHA:79254
Linear Verrucous Nevus Syndrome
Cataract, Abnormality of the kidney, Abnormal cornea morphology, Iris coloboma ORPHA:2611
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Hyperphosphaturia, Corneal opacity, Horseshoe kidney OMIM:163200
Duane Retraction Syndrome
Ectopic kidney, Aniridia, Microcornea, Hypoplastic iris stroma, Chorioretinal coloboma, Central h... ORPHA:233
Galactosemia I
Premature ovarian insufficiency, Hepatomegaly, Galactosuria, Hypergonadotropic hypogonadism, Incr... OMIM:230400
Gm1 Gangliosidosis
Corneal opacity, Gait disturbance, Abnormal scrotum morphology, Ataxia, Dysphagia, Unsteady gait,... ORPHA:354
Mucolipidosis Type Iii Alpha/Beta
Difficulty walking, Keratan sulfate excretion in urine, Corneal opacity, Loss of ambulation, Righ... ORPHA:423461
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Splenomegaly, Cataract ORPHA:585
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Corneal opacity, Bicornuate uterus, Hydronephrosis, Cryptorch... ORPHA:2059
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ... OMIM:614527
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Unilateral renal agenesis, Hyperparathyroidism OMIM:618188
Intestinal Botulism
Mydriasis, Dysphagia ORPHA:178481
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Metrorrhagia, Pancreatic... ORPHA:464329
Toxin-Mediated Infectious Botulism
Mydriasis, Dysphagia ORPHA:230800
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Botulism
Mydriasis, Urinary retention, Dysphagia ORPHA:1267
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Lowry-Maclean Syndrome
Developmental glaucoma, Hypospadias, Corneal opacity, Megalocornea, Bilateral cryptorchidism ORPHA:2409
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Keratoconjunctivitis sicca ORPHA:79128
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyp... OMIM:262190
Serotonin Syndrome
Acute kidney injury, Agitation, Irritability, Mydriasis, Restlessness ORPHA:43116
Arachnoid Cyst
Mydriasis, Irritability, Urinary incontinence, Inability to walk, Abnormality of the endocrine sy... ORPHA:2356
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Unilateral renal agenesis OMIM:616603
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst, Gonadal dysgenesis, male OMIM:231060
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... ORPHA:414
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Microcornea, Hydronephrosis, Chorioretinal co... ORPHA:568
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct... OMIM:154230
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Harrod Syndrome
Cataract, Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93474
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Gait disturbance, Cataract, Urinary retention, Pseudobulbar paralysis OMIM:616586
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Chorioretinal coloboma, Peters anomaly OMIM:120200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Hypoplasia of penis, Sclerocornea, Cryptorchidism, Iris coloboma ORPHA:77298
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Inability to walk, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Conjunct... ORPHA:505248
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Congenital Fibrosis Of Extraocular Muscles
Cataract, Abnormal pupil shape, Hypogonadotropic hypogonadism, Anisocoria ORPHA:45358
Fabry Disease
Abnormal renal tubule morphology, Anorexia, Glomerulopathy, Cornea verticillata, Hematuria, Delay... ORPHA:324
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Fucosidosis
Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Hypothyroidism, Cardiomegaly ORPHA:349
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermoid, Cryptorchidism OMIM:613001
Al-Gazali Syndrome
Sclerocornea, Hydronephrosis, Corneal opacity OMIM:609465
Foodborne Botulism
Mydriasis, Urinary retention, Dysphagia ORPHA:228371
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary ... ORPHA:731
Kallmann Syndrome
Breast hypoplasia, Erectile dysfunction, Anterior hypopituitarism, Hypoplasia of penis, Dyspareun... ORPHA:478
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Mucopolysaccharidosis Type 3
Abnormal temper tantrums, Hepatomegaly, Cardiomegaly, Hyperactivity, Corneal opacity, Gait distur... ORPHA:581
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Renal cortical microcysts, H... OMIM:214100
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly ORPHA:89844
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Nephrot... OMIM:609049
Ogden Syndrome
Irritability, Enlarged kidney, Maternal diabetes, Polycystic kidney dysplasia, Decreased testicul... OMIM:300855
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Angelman Syndrome
Astigmatism, Precocious puberty in females, Tongue thrusting, Broad-based gait, Hyperactivity, Ke... ORPHA:72
Blepharocheilodontic Syndrome 1
Neural tube defect, Conical tooth, Anal atresia, Cleft upper lip, Hypodontia OMIM:119580
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru... ORPHA:83628
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Peroxisome Biogenesis Disorder 10B
Cataract, Neurogenic bladder, Nephrocalcinosis OMIM:617370
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Oculocerebrocutaneous Syndrome
Cryptorchidism, Corneal opacity, Iris coloboma ORPHA:1647
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Autoimmune Hypoparathyroidism
Irritability, Depression, Autoimmune hypoparathyroidism, Calcium nephrolithiasis, Conjunctivitis,... ORPHA:36913
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Cryptorc... OMIM:613390
Meacham Syndrome
Blind vagina, Enlarged kidney, Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Hor... OMIM:608978
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Ataxia, Splenomegaly OMIM:272200
Glutathionuria
Gray matter heterotopia OMIM:231950
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Rhyns Syndrome
Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Microsporidiosis
Anorexia, Urethritis, Adrenocortical abnormality, Prostatitis, Abnormal fallopian tube morphology... ORPHA:2552
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ... OMIM:276700
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Broad-based gait, Dysdiadochokinesis, Gait disturbance... OMIM:616541
Dystonia-Deafness Syndrome 1
Cataract, Loss of ambulation, Dysphagia, Pseudobulbar paralysis OMIM:607371
Omodysplasia 2
Hypospadias, Labial hypoplasia, Dyspareunia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidis... OMIM:164745
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Astigmatism, Hypospadias, Urogenital sinus anomaly, Cry... OMIM:618820
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Astigmatism, Inability to walk, Hyperactivity, Low frustration tolera... ORPHA:168491
Autosomal Recessive Spastic Paraplegia Type 5A
Limb ataxia, Truncal ataxia, Dysphagia, Cataract, Abnormality of the urinary system ORPHA:100986
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Chorioretinal atrophy, P... OMIM:612109
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Bifid scrotum, Cataract, Hypothyroidism, Renal hypoplasia, Renal dysplasia, ... ORPHA:85321
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Trisomy 8Q
Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, High palate, Everted lo... ORPHA:1752
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Minimal change glomerulonephritis, Nephrotic range proteinuria... ORPHA:1830
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Cataract, Stag... OMIM:614376
Exstrophy-Epispadias Complex
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... ORPHA:322
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Heparan sulfate... OMIM:607015
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Bardet-Biedl Syndrome 1
High, narrow palate, Aganglionic megacolon, Truncal obesity, Dental crowding, Hypertension, High ... OMIM:209900
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Abnormality of the female genitalia, Hematuria, Vaginal neoplasm, Keratitis, Proteinuria, Dysphag... ORPHA:1018
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia OMIM:617622
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Abnormality of... ORPHA:1772
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hashimoto thyroiditis,... OMIM:618223
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma OMIM:615145
Graves Disease
Irritability, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperac... OMIM:275000
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Usher Syndrome Type 2
Cataract, Iris hypopigmentation, Ataxia, Depression ORPHA:231178
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Keratan sulfate excretion in urine, Corneal opacity, Chondroitin sulfate excretion ... OMIM:253010
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Opacification of the corneal stroma, Mucopolysacchariduria, Proteinuria OMIM:215250
Stromme Syndrome
Microcornea, Hydronephrosis, Sclerocornea, Bilateral renal hypoplasia, Cataract, Peters anomaly, ... OMIM:243605
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... OMIM:158330
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Odontogenic keratocysts of the jaw ORPHA:314473
Familial Isolated Hypoparathyroidism
Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroi... ORPHA:2238
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Hypercalciuria, Te... ORPHA:99880
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Microcornea, Opacification of the corneal stroma, Cryptorchidism, Anterior chamber s... OMIM:601499
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Recurrent hand flapping, Iris ... ORPHA:98794
Branchio-Oculo-Facial Syndrome
Microcornea, Renal agenesis, Hydronephrosis, Cataract, Multicystic kidney dysplasia, Iris coloboma ORPHA:1297
Pseudohypoparathyroidism Type 1B
Irritability, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP respo... ORPHA:94089
Mosaic Trisomy 8
Vesicoureteral reflux, Corneal opacity, Decreased testicular size, Hydronephrosis, Cryptorchidism ORPHA:96061
Pediatric-Onset Graves Disease
Polydipsia, Irritability, Increased circulating T4 concentration, Hepatomegaly, Increased circula... ORPHA:525731
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Premature ovarian insufficiency, Depression, Secondary amenorrhea, Hypergonadotropi... OMIM:157640
Bardet-Biedl Syndrome
Hypoplasia of penis, Hypoplasia of the ovary, Abnormality of the endocrine system, Ataxia, Multip... ORPHA:110
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Pancreatic cysts OMIM:311200
Amyloidosis, Finnish Type
Nephrotic syndrome, Lattice corneal dystrophy, Urolithiasis, Cataract, Renal glomerular amyloid d... OMIM:105120
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Tapered sperm head, Oligozoospermia, Coiled spe... OMIM:618433
3Q29 Microdeletion Syndrome
Hypospadias, Depression, Cataract, Gait disturbance, Attention deficit hyperactivity disorder, Ho... ORPHA:65286
Infant Botulism
Anorexia, Mydriasis, Dysphagia, Keratoconjunctivitis sicca ORPHA:178478
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Facial Spasm
Anisocoria OMIM:134300
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia ORPHA:276183
Caroli Syndrome
Abnormality of the kidney, Hepatomegaly, Conjunctival icterus, Polycystic kidney dysplasia, Abnor... ORPHA:480520
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Hypothyroidism, Multicystic kidney dysplasia, Leukocoria ORPHA:1556
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le... ORPHA:143
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia OMIM:200995
Superficial Siderosis
Limb ataxia, Dysdiadochokinesis, Anisocoria, Functional abnormality of the bladder, Ataxia, Unste... ORPHA:247245
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cataract, Mild p... OMIM:301108
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Hyperglycemia, Type II diabetes mellitus, Pr... OMIM:604367
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Polycystic kidney dysplasia... OMIM:268300
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t... ORPHA:3109
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Hydronephrosis... ORPHA:2092
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts ORPHA:2924
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Peters anomaly, Persistent pupillary membrane OMIM:613150
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Peters anomaly, Hypoplastic male external genitalia, Corneal opacity, Megalocornea, Cataract, Ren... OMIM:236670
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Corneal opacity, Gait disturbance, Cataract, Keratitis, Attent... ORPHA:464
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Breast aplasia, Anisocoria, Renal hypoplasia, Developmental cataract, ... OMIM:181270
Congenital Disorder Of Deglycosylation 1
3-Methylglutaconic aciduria, Hepatomegaly, Oral-pharyngeal dysphagia, Corneal ulceration, Keratan... OMIM:615273
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Tyrosinemia Type 2
Corneal opacity, Ataxia ORPHA:28378
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Ataxia, Renal cyst OMIM:611560
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypospadias, Renal agenesis, Hypoplasia of the bladder, Adrenal gland agenesis, Sex re... OMIM:611812
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Ehlers-Danlos Syndrome, Classic-Like, 1
Vesicoureteral reflux, Unilateral renal agenesis, Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Pancreatic fibrosis OMIM:263520
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Cataract, Nephroblastoma, A... OMIM:257300
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Hypoplasia of the uterus, Dec... ORPHA:3464
Cornelia De Lange Syndrome 1
Astigmatism, Ectopic kidney, Hypospadias, Abnormal renal morphology, Hypoplastic male external ge... OMIM:122470
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Inability to walk, Neurogenic bladder, Cor... ORPHA:488632
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity, Gait disturbance ORPHA:582
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Fanconi Anemia
Renal hypoplasia/aplasia, Abnormal renal morphology, Hypogonadism, Astigmatism, Hypospadias, Azoo... ORPHA:84
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Increased urinary porphobilinogen,... ORPHA:100924
Syndromic Diarrhea
Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Hypothyroidism, Renal hypopl... ORPHA:84064
Mosaic Variegated Aneuploidy Syndrome
Corneal opacity, Cataract, Vaginal neoplasm, Hypothyroidism, Nephroblastoma, Ambiguous genitalia,... ORPHA:1052
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f... OMIM:258040
Revesz Syndrome
Ataxia, Megalocornea, Broad-based gait, Leukocoria OMIM:268130
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot... OMIM:140000
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Hypoparathyroidism, Nephropathy, Renal insufficiency OMIM:247410
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Impaired glucose tolerance, Nephrolithiasis, ... OMIM:219090
Williams Syndrome
Hypoplasia of penis, Corneal opacity, Nephrocalcinosis, Ataxia, Multiple renal cysts, Urethral st... ORPHA:904
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Hypot... ORPHA:449291
Warburg Micro Syndrome 2
Microcornea, Cataract, Developmental cataract, Small scrotum, Cryptorchidism, Micropenis, Hypopla... OMIM:614225
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Proximal Myotonic Myopathy
Cataract ORPHA:606
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Low frustration tolerance, Microphallus, Gait ataxia, Motor stereotypy, Small scro... OMIM:300486
Smith-Lemli-Opitz Syndrome
Hyperactivity, Bifid scrotum, Splenomegaly, Small scrotum, Septate vagina, Aggressive behavior, H... OMIM:270400
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Astigmatism, Waddling gait, Focal... OMIM:242900
Hand-Foot-Genital Syndrome
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Bicornuate uterus, Ureter... ORPHA:2438
Kleefstra Syndrome
Supernumerary nipple, Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydron... ORPHA:261494
Culler-Jones Syndrome
Anterior pituitary hypoplasia, Cleft upper lip, Cleft palate, Hypogonadism, Hypopituitarism, Cryp... OMIM:615849
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Legius Syndrome
Ovarian neoplasm, Hyperactivity, Nephrolithiasis, Cataract, Attention deficit hyperactivity disor... ORPHA:137605
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Conjunctival hyperemia, Corneal opacity ORPHA:2399
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Corneal scarring, Renal cyst, Renal hypoplasia, Hydr... OMIM:618460
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Buphthalmos, Thymus hyperplasia, Long penis, Testicular neopla... ORPHA:744
Aniridia 3
Cataract, Aniridia OMIM:617142
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Corneal erosion, Recurrent urinary tract infections, Renal duplication, Proteinur... ORPHA:33001
Inhalational Botulism
Mydriasis, Urinary retention ORPHA:254504
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Cataract, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Moebius Syndrome
Corneal opacity, Hypogonadotropic hypogonadism, Dysphagia, Breast aplasia ORPHA:570
Alternating Hemiplegia Of Childhood
Anorexia, Mydriasis, Oral-pharyngeal dysphagia, Emotional lability, Impulsivity, Ataxia, Dysphagi... ORPHA:2131
Neurofibromatosis Type 1
Delayed puberty, Abnormality of the endocrine system, Pheochromocytoma, Corneal opacity, Heteroch... ORPHA:636
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Corneal opacity, Splenomegaly ORPHA:584
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insuff... OMIM:614922
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Hydronephrosis, Ataxia, Multicystic kidney dy... OMIM:618161
Coats Disease
Leukocoria OMIM:300216
Microphthalmia, Syndromic 5
Microcornea, Cataract, Cryptorchidism, Micropenis, Ectopic posterior pituitary OMIM:610125
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Cataract, Opacification of the corneal stroma, Renal insufficiency OMIM:251290
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalmos, Iris coloboma OMIM:212550
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Hypothyroidism, Cataract, Nephropathy ORPHA:1563
Hurler Syndrome
Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Hepatosplenomegaly, Splenomeg... OMIM:607014
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hydroureter, Hydronephrosis, Vaginal atresia, Hypogonadism, Cystic renal dysplasia OMIM:615989
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Iris coloboma ORPHA:251038
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Bifid scrotum, Iris atrophy, Dysphagia, Ectopia pupillae, Duplication of re... ORPHA:261552
Cystinosis, Nephropathic
Polydipsia, Recurrent corneal erosions, Delayed puberty, Generalized aminoaciduria, Primary hypot... OMIM:219800
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Unilateral renal agenesis, Endometriosis, Recurrent urinary trac... OMIM:613680
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Oculoectodermal Syndrome
Astigmatism, Hyperactivity, Microcornea, Chorioretinal atrophy, Bladder exstrophy, Limbal dermoid... OMIM:600268
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hypoplasia of the uterus, Peters ano... ORPHA:709
De Barsy Syndrome
Progressive cerebellar ataxia, Athetosis, Corneal opacity, Cataract, Cryptorchidism ORPHA:2962
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Cryptorchidism, Micropenis, Sclerocornea OMIM:614230
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Polydipsia, Abnormality of thyroid physiology, Glycosuria, Hype... ORPHA:411629
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum insulin-like grow... OMIM:241080
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Renal magnesium wasting, Self... OMIM:618314
Lacrimoauriculodentodigital Syndrome
Recurrent corneal erosions, Corneal neovascularization, Abnormal salivary gland morphology, Lacri... ORPHA:2363
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Gait disturbance, Abnormality of... ORPHA:1454
Agel Amyloidosis
Corneal ulceration, Depression, Lattice corneal dystrophy, Ataxia, Proteinuria, Cataract, Stage 5... ORPHA:85448
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Ectopic kidney, Hypoplastic labia majora, Pterygium, Cor... OMIM:263650
1Q21.1 Microdeletion Syndrome
Depression, Vesicoureteral reflux, Cataract, Hydronephrosis, Attention deficit hyperactivity diso... ORPHA:250989
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Corneal ... ORPHA:699
Scheie Syndrome
Corneal opacity OMIM:607016
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Coach Syndrome 1
Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Renal cyst, Ataxia, Splenomegaly, Stag... OMIM:216360
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... OMIM:618280
Microphthalmia, Syndromic 9
Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal hypoplasia, Hydronephrosis, Renal malrota... OMIM:601186
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Hurler Syndrome
Hepatomegaly, Depression, Corneal opacity, Mucopolysacchariduria, Splenomegaly ORPHA:93473
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Bicornuate uterus, Renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis OMIM:264480
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Alpha-Mannosidosis, Infantile Form
Astigmatism, Depression, Recurrent urinary tract infections, Corneal opacity, Ataxia, Hepatosplen... ORPHA:309282
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Bifid uterus, Cleft palate, Bifid uvula, Unilateral cleft lip ORPHA:2736
Thrombocytopenia-Absent Radius Syndrome
Renal malrotation, Ureteral duplication, Vesicoureteral reflux, Aplasia of the uterus, Corneal op... OMIM:274000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heterotopia, Subcortical heterotopia, ... OMIM:614643
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Labial hypoplasia, Pelvic kidney, Vesico... OMIM:300707
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Male infertility, Hepatomegaly, Primary testicular failure, ... ORPHA:85450
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Enlarged labia minora, Maternal diabetes, Polycystic kidney dysplasia, Abno... ORPHA:3404
7Q11.23 Microduplication Syndrome
Astigmatism, Unilateral renal agenesis, Hypospadias, Hyperactivity, Polyphagia, Enuresis, Aplasia... ORPHA:96121
Fryns Syndrome
Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, Opacification of... OMIM:229850
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Renal hypoplasia, Ab... ORPHA:2470
Charcot-Marie-Tooth Disease Type 4C
Gait ataxia, Difficulty walking, Inability to walk, Anisocoria ORPHA:99949
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Polydipsia, Renal phosphate wasting, Proximal tubulopathy, Micr... ORPHA:411634
Joubert Syndrome 1
Hyperactivity, Renal cyst, Ataxia, Chorioretinal coloboma, Nephropathy, Self-mutilation, Aggressi... OMIM:213300
Tangier Disease
Opacification of the corneal stroma, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy OMIM:205400
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Hydronephrosis, Self-injurious behavior, Multicystic kidney dysplasia,... OMIM:620511
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly OMIM:256540
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma, Renal cyst OMIM:617100
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Iris hypopigmentation, Ataxia, Cataract, Ocular albinism ORPHA:2720
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Urinary glycosa... OMIM:253220
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Maternal diabetes, Polycystic kidney dysplasia, Rena... OMIM:134780
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Penile hypospadias, Opacification of the corneal stroma, Microp... ORPHA:1692
Popliteal Pterygium Syndrome
Spina bifida occulta, Bifid scrotum, Cleft upper lip, Bifid uvula, Cleft palate, Fibrous syngnath... OMIM:119500
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Cowden Syndrome
Abnormality of the kidney, Adenoma sebaceum, Neoplasm of the thyroid gland, Conjunctival hamartom... ORPHA:201
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology, Corneal opacit... ORPHA:2556
Carpenter Syndrome 1
External genital hypoplasia, Hydroureter, Microcornea, Precocious puberty, Hydronephrosis, Opacif... OMIM:201000
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Renal malrotation, Hypopl... OMIM:615866
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia ... ORPHA:818
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ... ORPHA:209905
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Scorpion Envenomation
Acute kidney injury, Mydriasis, Glycosuria, Hyperglycemia, Ataxia, Restlessness, Priapism, Ketonuria ORPHA:466677
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Dys... OMIM:617913
1P36 Deletion Syndrome
Abnormality of the kidney, Abnormal female external genitalia morphology, Annular pancreas, Hypos... ORPHA:1606
Proboscis Lateralis
External genital hypoplasia, Unilateral renal agenesis, Microcornea, Corneal opacity, Ureteral ag... ORPHA:141099
Farber Disease
Opacification of the corneal stroma, Hepatosplenomegaly, Corneal opacity, Abnormal conjunctiva mo... ORPHA:333
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Cryptorchidism, Ureterocele, S... ORPHA:261265
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Spondyloepiphyseal Dysplasia, Maroteaux Type
Mucopolysacchariduria, Opacification of the corneal stroma OMIM:184095
Pseudohypoparathyroidism Type 1C
Irritability, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP respo... ORPHA:79444
Microphthalmia, Syndromic 3
Hypospadias, Anterior pituitary hypoplasia, Sclerocornea, Cataract, Cryptorchidism, Micropenis, H... OMIM:206900
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Iris coloboma, Hypospadias, Hyperactivity,... OMIM:613406
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Peutz-Jeghers Syndrome
Renal cell carcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cyst... ORPHA:2869
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Abnormal female external genitalia morphology, Corneal erosion, Hypoplasia of ... ORPHA:920
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Ectopic kidney, Labial hypoplasia, Vesicoureteral reflux, Bicornuate uterus... ORPHA:140952
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Abnormal renal morphology, Oligoz... ORPHA:48
Limb-Mammary Syndrome
Cleft hard palate, Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Hyp... ORPHA:69085
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Gait disturbance, Decreased testicular size, Hydronephrosis, Dysphagia, Hyp... ORPHA:261349
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Cryptorchidism, Micropenis OMIM:210710
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem... ORPHA:2973
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Astigmatism, Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Renal cyst, Precocious pu... ORPHA:369837
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Proximal tubulopathy, Hepatomegaly, Renal cyst OMIM:602579
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Precocious puberty, Rieger anomaly, Ectopia pupillae, Motor s... OMIM:194190
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Microcornea, Cataract, Opacification of the corneal stroma, Ho... ORPHA:46059
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Postprandial hyperglycemia, Hyperinsulinemia, Increased serum testoster... ORPHA:2298
Intermediate Uveitis
Band keratopathy, Anterior uveitis, Cataract, Posterior synechiae of the anterior chamber, Tubulo... ORPHA:279914
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Polydipsia, Hyperc... ORPHA:47159
Kindler Epidermolysis Bullosa
Phimosis, Corneal opacity, Conjunctivitis, Dysphagia, Urethral stricture, Neoplasm of the urethra ORPHA:2908
Pseudohypoparathyroidism Type 1A
Irritability, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP respo... ORPHA:79443
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome OMIM:268315
Joubert Syndrome 14
Irritability, Ataxia, Renal cyst OMIM:614424
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
2Q37 Microdeletion Syndrome
Supernumerary nipple, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stere... ORPHA:1001
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Alagille Syndrome 1
Abnormal anterior chamber morphology, Duplicated collecting system, Renal tubular acidosis, Band ... OMIM:118450
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Chromosome 6Pter-P24 Deletion Syndrome
Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the... OMIM:612582
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Abnormal temper tantrums, Delayed puberty, Cholelithiasis, Broad-based gait, Azoospe... ORPHA:2072
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hypergonadotropi... OMIM:212065
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Ataxia OMIM:615398
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Premature ovarian insufficiency, Unilateral renal agenesis, Hypospadia... ORPHA:363444
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Adrenal hypop... OMIM:146510
Opitz Gbbb Syndrome
Hypospadias, Thyroglossal cyst, Vesicoureteral reflux, Bifid scrotum, Bicornuate uterus, Hydronep... ORPHA:2745
Tuberous Sclerosis 1
Adenoma sebaceum, Renal cell carcinoma, Renal cyst, Precocious puberty, Hypothyroidism, Attention... OMIM:191100
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
External genital hypoplasia, Hypoplasia of penis, Tooth malposition, Bifid uvula, Cleft palate, F... ORPHA:2250
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Corneal opacity, Impulsivity, Oppositional... ORPHA:580
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Corneal opacity, Splenomegaly ORPHA:579
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Townes-Brocks Syndrome
Delayed puberty, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum, ... ORPHA:857
Fraser Syndrome 1
Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Corneal opacity, Bicornuate uterus, ... OMIM:219000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Hypoplasia of t... OMIM:175780
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, Ataxia, Proteinur... OMIM:251300
Cocaine Intoxication
Acute kidney injury, Agitation, Mydriasis, Hematuria, Proteinuria, Mania, Tubulointerstitial neph... ORPHA:90068
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangi... ORPHA:1655
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity, Gait disturbance OMIM:259600
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Renal hypoplasia/aplasia, Bicornuate uterus ORPHA:958
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst ORPHA:480536
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Horseshoe kidney, Renal cyst, Abnormality of the endocrine system ORPHA:166035
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Irritability, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:259720
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Wilson Disease
Sunflower cataract, Increased urinary copper concentration, Hepatomegaly, Hypoparathyroidism, Hyp... OMIM:277900
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Holoprosencephaly 9
Thin corpus callosum, Solitary median maxillary central incisor, Optic nerve hypoplasia, Bilatera... OMIM:610829
Congenital Muscular Dystrophy With Cerebellar Involvement
Polymicrogyria, Type II lissencephaly, Gray matter heterotopia ORPHA:370959
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Joubert Syndrome 2
Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Ataxia, Chorioretinal coloboma... OMIM:608091
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Compulsive behaviors, Renal cyst, Microphallus, Renal hypoplasia, Hydronep... OMIM:618454
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:609441
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Chronic kidney disease, Cataract, Reactive hypoglycemia, Lethargy ORPHA:469
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Corneal opacity, Megalocornea, Hypogonadism, Cryptorchidism, Agen... ORPHA:536471
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Hypospadias, Peters anomaly, Vesicoureteral reflux, Renal cyst, Attention defic... OMIM:616975
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Chorioretinal scar, Rena... ORPHA:91500
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Chorioretinal coloboma, Renal cyst ORPHA:2031
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Hypoplasia of the thymus, Attention deficit hyperactiv... OMIM:188400
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Bicornuate uterus, Hydrocele testis OMIM:145420
Tuberous Sclerosis 2
Adenoma sebaceum, Renal cell carcinoma, Renal cyst, Precocious puberty, Hypothyroidism, Renal ang... OMIM:613254
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Hematuria, Keratoconjunctivitis, Cataract, Opacification of the corne... OMIM:158310
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Choreoathetosis, Multicystic kidney dysplasia, Motor st... ORPHA:261197
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Renal cyst, Ovarian cyst, Hepatic cysts, Membranous... ORPHA:400
Mowat-Wilson Syndrome
Abnormality of the kidney, Hypospadias, Microcornea, Bifid scrotum, Ectopia pupillae, Chorioretin... OMIM:235730
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney OMIM:306955
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Keratan sulfate excretion in urine, Waddling gait, Chondroitin sulfate excretion in... OMIM:253000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Recurrent urinary tract infections, E... ORPHA:353281
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Uterus didelphys, Renal hypoplasia, Urethrovaginal fistula, Hydr... ORPHA:93271
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Small scrotum, Ambiguous genitalia, Cryptorchidism, Multic... ORPHA:261344
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Jacobsen Syndrome
Annular pancreas, Microcornea, Cataract, Hydronephrosis, Attention deficit hyperactivity disorder... ORPHA:2308
Traboulsi Syndrome
Spherophakia, Homocystinuria, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:35107
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Keratoconjunctivitis, Hypothyroidism, Primary adrenal insufficiency, Type II di... OMIM:269200
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Bickerstaff Brainstem Encephalitis
Mydriasis, Ataxia, Anisocoria ORPHA:79138
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis, Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Megacystis, Pyelonephritis OMIM:619351
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Corneal stromal edema, Corneal op... OMIM:601812
Waardenburg Syndrome
Heterochromia iridis, Abnormality of the uterus, Abnormal vagina morphology ORPHA:3440
Okamoto Syndrome
Urinary incontinence, Astigmatism, Ureteropelvic junction obstruction, Hydronephrosis, Bifid uter... ORPHA:2729
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Solitary median maxill... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Solitary median maxill... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Solitary median maxill... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Solitary median maxill... ORPHA:220386
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Polydipsia, Hypocitraturia, Decreased glomerular filtration rat... ORPHA:18
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Dental malocclusion, High palate, Hypoplasia of teeth, Cleft palate, Primary amenorr... OMIM:603457
Currarino Syndrome
Urinary incontinence, Rectovaginal fistula, Recurrent urinary tract infections, Neurogenic bladde... OMIM:176450
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Corneal crystals, Proteinuria OMIM:219900
Schinzel-Giedion Syndrome
Hypoplasia of the corpus callosum, Annular pancreas, Aganglionic megacolon, Neural tube defect, H... ORPHA:798
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Keratitis, Ataxia, Conjunctivitis, Cataract, Choreoathetosis, Keratoc... OMIM:278730
Mucolipidosis Iii Gamma
Mucopolysacchariduria, Opacification of the corneal stroma OMIM:252605
Trisomy 20P
Abnormality of the kidney, Hypospadias, Gait disturbance, Abnormality of the ureter, Hydronephros... ORPHA:261318
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Phace Syndrome
Heterochromia iridis, Hypothyroidism, Sclerocornea, Lens coloboma, Cataract, Ectopic thyroid, Iri... ORPHA:42775
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Hepatomegaly, Renal cyst, Cataract, ... OMIM:266920
Xeroderma Pigmentosum
Pterygium, Decreased testicular size, Conjunctival telangiectasia, Keratitis, Ataxia, Hypogonadis... ORPHA:910
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Ulnar-Mammary Syndrome
Delayed puberty, Hypoplasia of penis, Breast aplasia, Hypoplastic nipples, Renal hypoplasia, Abno... ORPHA:3138
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Gaucher Disease
Delayed puberty, Hepatomegaly, Hematuria, Cholelithiasis, Depression, Corneal opacity, Ataxia, Pr... ORPHA:355
Genitopalatocardiac Syndrome
Hypospadias, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism, Multicystic ki... ORPHA:2075
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Clitoral hypoplasia, Elevated circulating follicle... OMIM:618419
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Pachygyria ORPHA:255138
Smooth Muscle Dysfunction Syndrome
Mydriasis, Cryptorchidism OMIM:613834
Progeroid Short Stature With Pigmented Nevi
Delayed puberty, Premature ovarian insufficiency, Hypospadias, Chordee, Cataract, Diabetes mellit... OMIM:176690
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... OMIM:312870
Renal Agenesis
Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena... ORPHA:411709
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Opacification of the corneal stroma, Splenomegaly ORPHA:583
Mend Syndrome
Anterior polar cataract, Hyperactivity, Crossed fused renal ectopia, Cataract, Cryptorchidism OMIM:300960
Hermansky-Pudlak Syndrome 6
Iris transillumination defect, Urinary incontinence, Endometriosis, Recurrent urinary tract infec... OMIM:614075
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Multicystic kidney dysplasia OMIM:618829
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the kidney, Astigmatism, Hydroureter, Corneal erosion, Corneal opacity, Abnormalit... ORPHA:2273
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia OMIM:617397
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Corneal opacity, Splenomegaly, Dermatan sulfate excretion in urine OMIM:253200
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... OMIM:107480
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydr... ORPHA:2473
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Thymic hormone decreased, Gait disturbance, Ataxia, Proteinuri... OMIM:216400
Retinoblastoma
Hypopyon, Heterochromia iridis, Leukocoria, Pineoblastoma, Uveitis ORPHA:790
Rhombencephalosynapsis
Abnormal renal morphology, Ataxia, Abnormality of the uterus ORPHA:59315
Mucolipidosis Iii Alpha/Beta
Mucopolysacchariduria, Opacification of the corneal stroma, Hyperopic astigmatism, Hepatomegaly OMIM:252600
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia, Hyperechogenic kidneys, Reduced renal corticomedullary... OMIM:620047
Cornelia De Lange Syndrome
Delayed puberty, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Microcornea, Ves... ORPHA:199
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria ORPHA:2065
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Depression, Parathormone-independent increased renal tubular calcium reabsorption,... OMIM:600740
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Sclerocornea OMIM:300952
Wolf-Hirschhorn Syndrome
Abnormality of the kidney, Hypospadias, Megalocornea, Sclerocornea, Ataxia, Cryptorchidism, Abnor... ORPHA:280
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Lissencephaly, Gray matter heterotopia OMIM:615219
Chime Syndrome
Abnormality of the kidney, Hydronephrosis, Corneal opacity ORPHA:3474
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornuate uterus, Urete... OMIM:269150
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri... OMIM:601390
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Ureteral duplication, Breast aplasia, Recurrent urinary tract infectio... ORPHA:2036
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst, Conjunctivitis OMIM:615560
Axial Osteomalacia
Renal cyst OMIM:109130
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Increased serum testosterone ... ORPHA:3455
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Attention deficit hyperactivi... OMIM:614083
Ciliary Dyskinesia, Primary, 1
Abnormal cornea morphology, Male infertility OMIM:244400
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Microcornea, Hypoplasia of the iris, Developmental cataract, P... OMIM:133540
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals OMIM:210370
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Penile Agenesis
Maternal diabetes, Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent peni... ORPHA:49
Genitopatellar Syndrome
Clitoral hypertrophy, Hydronephrosis, Small scrotum, Cryptorchidism, Multicystic kidney dysplasia ORPHA:85201
Larsen Syndrome
Cryptorchidism, Corneal opacity OMIM:150250
Fanconi Anemia, Complementation Group A
Male infertility, Ectopic kidney, Duplicated collecting system, Abnormal renal morphology, Hyperg... OMIM:227650
Chiari Malformation Type Ii
Gray matter heterotopia OMIM:207950
Pagod Syndrome
Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o... ORPHA:991
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating... ORPHA:99819
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating... ORPHA:424
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Keratoconus, Renovascular hypertension, Uterine prolapse, Bladder d... ORPHA:286
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Dark urine, Renal cyst ORPHA:79303
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:614887
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Axial malrotation of the kidney, Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, High, narrow palate, Prolonged QT interval, Secondary amenorrhea... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, High, narrow palate, Prolonged QT interval, Secondary amenorrhea... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, High, narrow palate, Prolonged QT interval, Secondary amenorrhea... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, High, narrow palate, Prolonged QT interval, Secondary amenorrhea... ORPHA:881
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the kidney, Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Hype... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the kidney, Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Hype... ORPHA:353277
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormal emotion, Difficulty walking, Nail-biting, Corneal ulceration, Hyperactivity, Corneal sca... ORPHA:642
Alveolar Echinococcosis
Abnormal adrenal morphology, Abnormal bladder morphology, Renal cyst, Ataxia, Hepatic cysts, Panc... ORPHA:284
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Keratoconus, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Unsteady gait, Multiple renal cysts, Chorioretina... OMIM:618733
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Corneal opacity, Developmental cataract, Bladder diverticulum, Pyelone... ORPHA:90348
Tangier Disease
Corneal opacity, Hepatosplenomegaly, Left ventricular hypertrophy ORPHA:31150
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Acrofacial Dysostosis, Rodríguez Type
Renal hypoplasia/aplasia, Abnormality of the uterus ORPHA:1788
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Iris coloboma, Hypospadias, Peters anomaly, Clitoral ... OMIM:261540
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
Neurocardiofaciodigital Syndrome
Cataract, Vesicoureteral reflux, Sclerocornea OMIM:619869
Osteogenesis Imperfecta
Hypercalciuria, Corneal opacity, Nephrolithiasis, Gait disturbance, Ataxia, Dysphagia, Loss of am... ORPHA:666
Microphthalmia, Syndromic 6
Anterior hypopituitarism, Microcornea, Adrenal hypoplasia, Female hypogonadism, Abnormality of th... OMIM:607932
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Tip-toe gait, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, S... OMIM:619503
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Campomelia, Cumming Type
Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia OMIM:619774
Gaucher Disease, Type Iiic
Cardiomegaly, Opacification of the corneal stroma, Hepatomegaly, Splenomegaly OMIM:231005
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Dermatan sulfate excretion in urine, Abnormal uvea morphology, Hepatosplenomegal... ORPHA:217085
Alkuraya-Kucinskas Syndrome
Lissencephaly, Gray matter heterotopia OMIM:617822
Retinoblastoma
Pinealoma, Leukocoria OMIM:180200
Sponastrime Dysplasia
Hypospadias, Congenital aphakia, Microcoria, Precocious puberty, Hypothyroidism, Cataract ORPHA:93357
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity, Dermatan sulfate excretion in urine, Abnormal uvea morphology, Hepatosplenomegal... ORPHA:217093
Hereditary Acrokeratotic Poikiloderma
Abnormal renal tubule morphology, Abnormal preputium morphology, Keratoconjunctivitis, Opacificat... ORPHA:2907
Ocular Cystinosis
Corneal crystals ORPHA:411641
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Papillary cystadenoma of the ep... OMIM:193300
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Bradykinesia, Urinary incontinence, Akinesia, Hyperactivity, Depressi... OMIM:234200
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Hajdu-Cheney Syndrome
Delayed puberty, Hepatomegaly, Hypospadias, Splenomegaly, Multiple renal cysts, Cataract, Iris co... ORPHA:955
Meckel Syndrome, Type 7
Multiple glomerular cysts, Multicystic kidney dysplasia, Bile duct proliferation, Hepatosplenomeg... OMIM:267010
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Pubertal developmental failure in females, Hypoplastic male external genitali... ORPHA:740
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Gray matter heterotopia OMIM:619775
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Astigmatism, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uteru... OMIM:135900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Cryptorchidism, Ambiguous genitalia, Renal cyst OMIM:616300
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Uterine leiomyoma, Multiple renal cysts ORPHA:220460
Spondylocarpotarsal Synostosis Syndrome
Cataract, Renal cyst OMIM:272460
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Joubert Syndrome 21
Renal cyst, Ataxia, Splenomegaly, Hyperechogenic kidneys, Dysphagia OMIM:615636
Plague
Anorexia, Mydriasis, Hepatomegaly, Depression, Conjunctival hyperemia, Unsteady gait, Splenomegaly ORPHA:707
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Tetrasomy 9P
Inappropriate behavior, Abnormal chorioretinal morphology, Hyperactivity, Recurrent urinary tract... ORPHA:3310
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Renal cyst, Bile duct proliferation, Nephritis, Proteinuria, Chronic kidney dis... OMIM:208500
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Micropenis, Absent gallbladder OMIM:617925
Miller-Dieker Lissencephaly Syndrome
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria OMIM:247200
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia OMIM:619833
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Yunis-Varon Syndrome
Clitoral hypertrophy, Hypospadias, Cardiomegaly, Renal artery stenosis, Renovascular hypertension... ORPHA:3472
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreatic endocrine tumor, Adren... ORPHA:892
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
D-Bifunctional Protein Deficiency
Hepatomegaly, Renal cyst, Bile duct proliferation, Primary adrenal insufficiency, Splenomegaly OMIM:261515
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Van Den Ende-Gupta Syndrome
Dilatation of the renal pelvis, Sclerocornea OMIM:600920
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Hepatomegaly, Rectovaginal fistula, Perineal fistula, Renal agenesis, C... ORPHA:2538
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst OMIM:617260
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Mowat-Wilson Syndrome
Urinary incontinence, Bifid scrotum, Ataxia, Dysphagia, Septate vagina, Bruxism, Abnormality of t... ORPHA:2152
Pallister-Hall Syndrome
Ectopic kidney, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpo... ORPHA:672
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperfora... OMIM:181450
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Bifid scrotum, Dysphagia, Septate vagina, Bruxism, Astigmatism, Hypospadias... ORPHA:261537
Fraser Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuat... ORPHA:2052
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Abnormality of the endocrine system, Vesicoureteral reflux, ... ORPHA:438213
Van Maldergem Syndrome 2
Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615546
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Hypospadias, Multicystic kidney dysplasia, Abnormal... ORPHA:1596
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Cryptorchidism, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Trisomy 10P
Abnormality of the kidney, Rectovaginal fistula, Dysphagia, Multiple renal cysts, Absent gallbladder ORPHA:171929
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Hydroureter, Hypospadias, Dilatation of the bladder, Bicornuate uterus, Hydrone... OMIM:265380
6Q Terminal Deletion Syndrome
Polymicrogyria, Abnormality of neuronal migration, Periventricular heterotopia, Gray matter heter... ORPHA:75857
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration ORPHA:261236
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Gray matter heterotopia, Pachygyria OMIM:620024
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Dysphagia OMIM:601559
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Hepatomegaly, Hypoplasia of penis, Supernumerary ... ORPHA:373
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Unilateral renal agenesis OMIM:154400
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Multiple renal cysts ORPHA:1190
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Abnormal morphology of female internal genitalia, Multiple renal cysts... ORPHA:538
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma ORPHA:79280
Robinow Syndrome
External genital hypoplasia, Multicystic kidney dysplasia, Clitoral hypoplasia, Decreased serum t... ORPHA:97360
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatomegaly, Renal cyst OMIM:601539
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:618918
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Corneal neovascularization, Unilateral renal agenesis, Hypospadias, R... OMIM:308205
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per... ORPHA:98889
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Branchiooculofacial Syndrome
Hypospadias, Renal cyst, Renal agenesis, Ectopic thymus tissue, Cataract, Cryptorchidism, Supernu... OMIM:113620
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Simplified gyral pattern, Pachygyria, Lissencephaly, Periventricular heterotopia ORPHA:468631
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Hypoplasia of penis, Hydronephrosis, Cryptorchidism, Multi... ORPHA:1507
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia OMIM:618476
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Recurrent cystitis, ... ORPHA:64
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Abnormal cornea morphology, Uterine prolapse, Bladder diverticulum ORPHA:287
Genitopatellar Syndrome
Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dysplasia, Labial hypoplasia, Hyp... OMIM:606170
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal cyst, Bile duct proliferation, Splenomegaly, Left ventricular hypertrophy, Re... OMIM:613610
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Ataxia, Proteinuria, Pancreati... ORPHA:2750
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Pmm2-Cdg
Abnormal renal tubule morphology, Hyperplastic labia majora, Elevated circulating thyroid-stimula... ORPHA:79318
Cystic Fibrosis
Depression, Absent vas deferens, Male infertility, Nephrolithiasis ORPHA:586
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Aicardi Syndrome
Polymicrogyria, Gray matter heterotopia, Pachygyria OMIM:304050
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Small scrotum, Inability to walk, Labial hypoplasia, Ap... OMIM:601803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea OMIM:253280
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly 14
Periventricular heterotopia, Gray matter heterotopia OMIM:619895
C Syndrome
Renal hypoplasia/aplasia, Female pseudohermaphroditism, Cryptorchidism, Multicystic kidney dyspla... ORPHA:1308
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vici Syndrome
Gray matter heterotopia OMIM:242840
Yunis-Varon Syndrome
Irritability, Hypospadias, Hypoplastic nipples, Absent nipple, Sclerocornea, Cataract, Cryptorchi... OMIM:216340
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Loeys-Dietz Syndrome 3
Cataract, Uterine prolapse, Ectopia lentis, Left ventricular hypertrophy, Cystocele OMIM:613795
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia ORPHA:352665
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:603671
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia OMIM:612289
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... OMIM:276820
Orofaciodigital Syndrome Xiv
Polymicrogyria, Periventricular heterotopia, Simplified gyral pattern OMIM:615948
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse, Abnormal bladder morphology, Left ventricular hypertrophy ORPHA:284984
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Craniofacial Microsomia 1
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Limbal... OMIM:164210
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179

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 Efna5

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 Efna5.

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

Title Journal IMPC Allele PubMed ID
Target-independent ephrina/EphA-mediated axon-axon repulsion as a novel element in retinocollicular mapping. Neuron (October 2014) Efna5tm1c(EUCOMM)Wtsi Efna5tm1a(EUCOMM)Wtsi PMC4250266

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Efna5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Efna5tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Efna5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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