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Gene: Emx2 MGI:95388

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
empty spiracles homeobox 2
Synonyms:
Pdo

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Emx2 mutations

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

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

The table below shows human diseases associated to Emx2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160

The table below shows human diseases predicted to be associated to Emx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Leukoencephalopathy With Vanishing White Matter 5
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... OMIM:620315
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... OMIM:614019
Deafness, Autosomal Recessive 2
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment OMIM:600060
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... OMIM:185800
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of... OMIM:604213
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment, Joint contracture of the hand OMIM:224800
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Fused... OMIM:184460
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Diffuse cerebral atrophy ORPHA:363654
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria, Renal cyst OMIM:614870
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Renal Agenesis
Renal insufficiency, Absent vas deferens, Proteinuria, Renal agenesis, Unilateral renal agenesis,... ORPHA:411709
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... ORPHA:500166
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... OMIM:617542
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... OMIM:266810
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a... OMIM:146255
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia ORPHA:101071
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... OMIM:158330
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly ORPHA:171703
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... OMIM:619244
Pontocerebellar Hypoplasia, Type 12
Death in infancy, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Cerebral ... OMIM:618266
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas... ORPHA:2578
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Absent vas defere... ORPHA:93111
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria, Micropenis OMIM:300982
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Tenosynovial Giant Cell Tumor
Abnormality of the knee, Abnormality of the tympanic membrane, Abnormality of the auditory canal,... ORPHA:66627
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy ORPHA:1513
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Agenesis of corpus callosum, Elevate... ORPHA:168558
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebra... OMIM:617668
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... OMIM:608716
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Agenesis of corpus callosum, Elevate... ORPHA:289548
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... ORPHA:3109
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Cerebral atrophy, Partial agenesis of the ... OMIM:617296
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Lissencephaly, X-Linked, 1
Death in infancy, Lissencephaly, Micropenis, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
X-Linked Neurodegenerative Syndrome, Bertini Type
Death in infancy, Agenesis of corpus callosum ORPHA:85334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Di... OMIM:613154
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Sensorineural hearing impairment ORPHA:71289
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricular leukomalacia, Leuk... OMIM:615889
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Sensorineural hearing impairment, Fused cervical vertebrae, Conductive... OMIM:214300
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Septate vagi... ORPHA:2237
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankle, Atresia of ... ORPHA:2010
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment, Symphalangism of the 4th finger, Symphalangism of the 5th finger, ... ORPHA:3246
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly, Aplasia of the uterus, Polycystic kidney dysplasia, A... OMIM:619879
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary... OMIM:151100
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis... OMIM:615771
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Otosclerosis 10
Otosclerosis OMIM:615589
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Unilateral renal hypoplasia, Colpocephaly, Vesicoureter... OMIM:619955
Thrombocytopenia-Absent Radius Syndrome
Axial malrotation of the kidney, Aplasia of the uterus, Abnormality of the kidney, Horseshoe kidney ORPHA:3320
Rudiger Syndrome
Death in infancy, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Lissencephaly 3
Agyria, Microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of c... OMIM:611603
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in chi... OMIM:619517
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia, Joint contracture of the 5th finger OMIM:248910
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Agenesis ... ORPHA:457284
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Congenital hip dislocation, Atresia of the external auditory canal OMIM:133705
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... ORPHA:544488
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... OMIM:601076
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Genu valgum OMIM:132450
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... ORPHA:171680
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Lateral ventricle dilatation, Microcephaly, Diffuse cerebral atrophy ORPHA:77299
Multiple Synostoses Syndrome 1
Carpal synostosis, Stapes ankylosis, Proximal/middle symphalangism of 5th toe, Tarsal synostosis,... OMIM:186500
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Choreoathetosis, Dystonia OMIM:618497
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Microcephaly, Hypoplasia of the frontal lobes, Vesicoureteral reflux, ... ORPHA:2512
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,... ORPHA:90794
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment, Tremor OMIM:619473
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Abnormal vestibular function OMIM:274600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dandy-Walker malformation, Renal insufficiency, Hypospadias, Absent septum pellucidum, Abnormal b... ORPHA:397715
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hyperlysinuria, Hy... OMIM:616034
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... OMIM:613443
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M... ORPHA:347
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Male urethral meatus s... ORPHA:464738
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech... OMIM:617914
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Meningocele, Aplasia of the uterus ORPHA:2879
Craniometaphyseal Dysplasia
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Aplasia of the uterus, Micropenis OMIM:614083
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... ORPHA:300570
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal vestibular function OMIM:619553
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Urinary incontinence, Basal ganglia calcification, Leukoencephalopathy, Cerebral... OMIM:221770
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... ORPHA:79113
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:618736
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, EEG with generalized epileptiform discharges OMIM:617976
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Sensorineural hearing impairment, Conductive hearing impairment, Cervic... OMIM:118100
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619278
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1756
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Pyruvate Dehydrogenase E1-Alpha Deficiency
Periventricular leukomalacia, Microcephaly, Partial agenesis of the corpus callosum, Abnormal med... ORPHA:79243
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Agenes... OMIM:616258
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Radioulnar synostosis, Sensorineural hearing impairment, Macrotia ORPHA:921
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Lateral ventricle dilatation, Basal ganglia gliosis... OMIM:607596
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Sensorineural hearing impairment, Craniosynostosis ORPHA:2866
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Sensorineural hearing impairment, Adult onset sensorineural ... ORPHA:1368
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Abnormal periventricular white matter morphology, Dilated third ventricle, Microcephaly OMIM:619725
Ramon Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:3019
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Death in infancy, Renal malrotation, Spina bifida, Pancreatic cysts, Patent... OMIM:274000
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ventricle dilatati... OMIM:602200
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uteru... OMIM:154230
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Hypospadias OMIM:618330
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Waardenburg Syndrome, Type 1
Myelomeningocele, Aplasia of the vagina, Spina bifida OMIM:193500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Low-set ears OMIM:616910
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Otofaciocervical Syndrome
Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... ORPHA:2792
Cystic Fibrosis
Absent vas deferens, Nephrolithiasis ORPHA:586
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Caudate atrophy, Reduced cerebral white matter volume, Microcephaly, Co... OMIM:615574
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly, Hydrocephalus, Hypopla... ORPHA:500055
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:2213
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Proteinuria, Dysplastic corpus callosu... ORPHA:488627
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment OMIM:615706
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... OMIM:194080
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormal antihelix morphology ORPHA:3145
Cardiac-Urogenital Syndrome
Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent ductus ... OMIM:618280
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal... OMIM:601803
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy ORPHA:791
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Thin corpus callosum, Microcephaly OMIM:615716
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:616602
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus, Bicornuate uterus OMIM:258320
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Stage 5 chronic kidney disease, Lateral... OMIM:608629
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation, Microcephaly OMIM:609637
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Simplified gyral pattern, Lateral ventricle dilatation, Lissencephaly, Hypoplasia of the corpus c... ORPHA:284417
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Hypoplasia of the corpus callosum OMIM:610015
Aicardi Syndrome
Microcephaly, Pachygyria, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral v... OMIM:304050
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea OMIM:618841
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Radioulnar synostosis, Low-set ears OMIM:614701
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Osteogenesis Imperfecta, Type Iv
Wormian bones, Otosclerosis, Hearing impairment OMIM:166220
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, Multifocal cerebral white matter abnormalities, Subependymal cysts, D-2-hydrox... OMIM:600721
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Renal tubular acidosis, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Synostosis of carpal bones ORPHA:3238
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... ORPHA:2549
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Crouzon Syndrome
Optic atrophy, Multiple suture craniosynostosis, Conductive hearing impairment, Narrow internal a... ORPHA:207
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Mixed hearing impairment ORPHA:2698
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... OMIM:609166
Cleft Velum
Recurrent otitis media, Conductive hearing impairment ORPHA:99772
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Camptodactyly of finger, Cupped ear, Microtia, Conductive hear... ORPHA:246
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Renal insufficiency, Abnormal vagina morphology, Renal hypoplasia/aplasia ORPHA:2123
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:300946
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Branchiootorenal Syndrome 1
Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Dilatated internal auditory c... OMIM:113650
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Mild fetal ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Penoscrotal Transposition
Hypospadias, Abnormal external genitalia, Renal agenesis, Abnormality of the urethra, Penoscrotal... ORPHA:2842
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum ORPHA:1528
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Low-set ears OMIM:618672
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Atresia of the external auditory canal, Conductive hearing impairment, Stenosis of the ex... OMIM:608257
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Neurogenic bladder, Pachygyria, Thin corpus callosum ORPHA:572013
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Larsen-Like Syndrome
Conductive hearing impairment, Recurrent otitis media, Joint dislocation, Low-set ears OMIM:608545
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Microcephaly, Lissencephaly, Neonatal death, Agenesis of corpus callosum, Agyria OMIM:616342
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Abnormality of th... ORPHA:949
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Dysmenor... ORPHA:3411
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... OMIM:620352
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618117
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media OMIM:618063
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618619
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Interstitial Cystitis
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... ORPHA:37202
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Hypospadias OMIM:620135
Coffin-Siris Syndrome 6
Conductive hearing impairment, Wormian bones, Posteriorly rotated ears, Low-set ears OMIM:617808
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Microcephaly, Methylmalonic aciduria, Elevated urinary am... OMIM:614105
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis OMIM:615989
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Partial agenesis of the corpus callosum... OMIM:135900
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst OMIM:605231
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Meth... OMIM:604273
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovaries, Gonadal dysgenesis, Umbi... ORPHA:1770
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Zechi-Ceide Syndrome
Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Conductive hearin... ORPHA:217017
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Atresia of the external auditory cana... ORPHA:1488
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus callosum, Diffuse white matt... ORPHA:208447
Non-Functioning Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Conductive hearing imp... ORPHA:94080
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidne... OMIM:613390
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Tarsal synostosis, Sensorineural hearing impairment, Abnormali... ORPHA:1307
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:617690
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryp... ORPHA:83628
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Progressive cervical vertebral spine fusion, Sensorineural hearing... OMIM:135100
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Decreased response to growth hormone stimulation test, Microcephaly, Re... OMIM:609053
Osteogenesis Imperfecta, Type I
Wormian bones, Otosclerosis, Hearing impairment OMIM:166200
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microcephaly, Epispadias, Partial agenesis of the corpus callosum, Hypo... ORPHA:434179
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Lateral ventricle dilatation, Abnormal caudate nucleus morphology,... ORPHA:2148
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... ORPHA:52368
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, Abnorma... ORPHA:247768
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Frontonasal Dysplasia 1
Conductive hearing impairment, Joint contracture of the hand, Low-set ears OMIM:136760
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... OMIM:616900
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum OMIM:614833
Paganini-Miozzo Syndrome
Lateral ventricle dilatation, Urinary incontinence OMIM:301025
Phaver Syndrome
Posteriorly rotated ears, Camptodactyly of finger, Aplasia/Hypoplasia of the earlobes, Radioulnar... ORPHA:2876
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment ORPHA:1861
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Abnormality of the wrist, Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Mic... ORPHA:2878
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Hypospadias, Miscarriage, Abnormality of the urethra, Bicornu... ORPHA:2438
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hypospadias, Microcephaly, Lateral ventricle dilatation, Hypoplasia of ... OMIM:617751
Donnai-Barrow Syndrome
Umbilical hernia, Bicornuate uterus, Proteinuria, Abnormality of the uterus ORPHA:2143
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment OMIM:604804
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:618325
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Hydrocephalus, Spinal dysraphism,... ORPHA:1926
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of th... OMIM:616367
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria OMIM:614219
Septooptic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Decreased response to growth hormone stimu... OMIM:182230
Urban-Rogers-Meyer Syndrome
Hypogonadism, Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:239800
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular leukomalacia, Periventricular cysts, Hypoplasia of the corpus callosum, Short cor... ORPHA:255138
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Abnorma... ORPHA:565624
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Prominent metopic ridge, Papilledema, Absent malleus, Sagittal craniosynostosis... OMIM:614188
Duplication Of Urethra
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, EEG abnormality, Bilateral conductive hear... ORPHA:2332
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Micro... OMIM:618606
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uterus, Agenesis o... OMIM:194190
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Abnormal renal corticomedulla... OMIM:617397
Microphthalmia, Syndromic 12
Neonatal death, Cryptorchidism, Bicornuate uterus OMIM:615524
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Microtia, Radioulnar synostos... OMIM:171480
Cach Syndrome
Microcephaly, T2 hypointense thalamus, Renal hypoplasia, Cerebral atrophy, Lateral ventricle dila... ORPHA:135
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:93262
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:420179
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H... OMIM:241080
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Perisylvian polymicrogyria, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cere... OMIM:618291
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Craniosynostosis, Prominent crus of helix, External ear malforma... ORPHA:794
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Metacarpophalangeal synostosis, Se... ORPHA:3250
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Cryptorchidism, Meningocele, Abnormality of the ureter, Abnormal morphology of femal... ORPHA:2311
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Microcephaly, Hydrocephalus, Colpocephaly, Periventricular leukomalacia, Thin corpus callosum, Ve... OMIM:619833
Trichorhinophalangeal Syndrome Type 2
Joint dislocation, Low-set, posteriorly rotated ears, Genu valgum, Protruding ear, Conductive hea... ORPHA:502
Lateral Meningocele Syndrome
Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Abnormality of the middle ear o... ORPHA:2789
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Vesicoureteral reflux, Dand... ORPHA:3078
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Hydrocephalus, Ureth... OMIM:273395
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia OMIM:613730
Burn-Mckeown Syndrome
Conductive hearing impairment, Hearing impairment, Protruding ear OMIM:608572
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... OMIM:180860
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc... OMIM:236730
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, ... OMIM:601186
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancreas, Abnormali... ORPHA:2470
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Mullegama-Klein-Martinez Syndrome
Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Atresia of the external ... OMIM:301022
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Simple ear, Hip dislocation, Atresia of the external auditory canal, Conductive hearing impairmen... OMIM:602471
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy OMIM:607485
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormal cerebral white matter morphology, Dilated third ventricle, Urinary incontinence, Cerebra... ORPHA:314404
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of the corpu... ORPHA:2524
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Conductive hearing impairment, Abnormal antihelix morphology, Abnormal antitragus morphology, Apl... ORPHA:3082
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2182
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Microcephaly, Renal cyst, Colpocephaly, Hy... OMIM:617260
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum OMIM:617854
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Death in childhood, Lateral ventricle dilatation, Primary microce... OMIM:619847
Oculoskeletodental Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hearing impairment ORPHA:557003
Bladder Exstrophy
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, A... ORPHA:93930
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Holoprosencephaly, Micropenis, Aplasia/hy... ORPHA:672
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w... OMIM:620075
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza... ORPHA:1834
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Polycystic ovaries, Acute kidney ... ORPHA:275555
Even-Plus Syndrome
Vesicoureteral reflux, Dysplastic corpus callosum, Agenesis of corpus callosum, Renal hypoplasia OMIM:616854
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Pagod Syndrome
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl... ORPHA:991
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal preputium morphology, Choroid plexus cyst, Glandular hypospadias, Lateral ventricle dila... ORPHA:293725
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Horseshoe kidney OMIM:619318
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood OMIM:619423
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C... ORPHA:3027
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ear... ORPHA:1131
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Death in childhood OMIM:618651
Renal Hypodysplasia/Aplasia 1
Proteinuria, Primary amenorrhea, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Re... OMIM:191830
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Hypoplasia of penis, Microcephaly, Pachygyria, Agenesis of corpus callosum, Ven... ORPHA:452
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Bilateral conductive hearing impairment, Low-set ears, Interictal epil... OMIM:617802
Stickler Syndrome, Type I
Arthropathy, Sensorineural hearing impairment, Osteoarthritis, Arthritis, Conductive hearing impa... OMIM:108300
Kniest Dysplasia
Hip contracture, Enlarged joints, Hip dislocation, Recurrent otitis media, Conductive hearing imp... OMIM:156550
Johnson Neuroectodermal Syndrome
Facial palsy, Protruding ear, Microtia, Atresia of the external auditory canal, Conductive hearin... ORPHA:2316
Trisomy 13
Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Displa... ORPHA:3378
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Schinzel-Giedion Syndrome
Abnormality of the stapes, Wormian bones, Aganglionic megacolon, Hypsarrhythmia, Abnormal cochlea... ORPHA:798
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... OMIM:620311
Slc35A2-Cdg
Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atrophy, Transient neph... ORPHA:356961
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Patent ductus arteriosu... ORPHA:2547
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Renal hypoplasia, Hypoplasia of the corpus callosum OMIM:618914
Camptobrachydactyly
Urinary incontinence, Septate vagina OMIM:114150
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology ORPHA:199302
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... OMIM:620113
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... OMIM:300219
Hand-Foot-Genital Syndrome
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... OMIM:140000
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina... OMIM:258040
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Rhyns Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:602152
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Wormian bones, Hearing impairment OMIM:616229
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... OMIM:236700
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Crouzon Syndrome
Sagittal craniosynostosis, Optic atrophy, Atresia of the external auditory canal, Lambdoidal cran... OMIM:123500
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... OMIM:619179
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Horseshoe kidney... ORPHA:3097
Brachycephaly, Trichomegaly, And Developmental Delay
Conductive hearing impairment, Overfolded helix, Low-set ears OMIM:617412
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Septate vagina, Spina bifida occulta, Bicornuate uterus, ... OMIM:300707
Agnathia-Otocephaly Complex
Conductive hearing impairment, Low-set ears, Synotia OMIM:202650
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Cerebral calcification, Proteinuria, Decreased response to... ORPHA:1855
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Sensorineural hearing impairment, Choreoathetosis, Dystonia, Conductive hearing... ORPHA:261197
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
Cleft Lip/Palate
Conductive hearing impairment, Recurrent otitis media ORPHA:199306
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell car... ORPHA:2869
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum, Micropenis OMIM:618810
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... OMIM:617466
Meacham Syndrome
Death in infancy, Septate vagina, Male pseudohermaphroditism, Patent ductus arteriosus, Horseshoe... OMIM:608978
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Neon... ORPHA:85284
Marshall-Smith Syndrome
Conductive hearing impairment, Optic atrophy, Craniosynostosis ORPHA:561
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities OMIM:619737
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... ORPHA:66628
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Lateral ven... ORPHA:2822
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Abnormality... ORPHA:51608
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Hypoplasia of the uter... OMIM:618419
Carpenter Syndrome 1
Abnormal pinna morphology, Sagittal craniosynostosis, Lateral displacement of patellae, Sensorine... OMIM:201000
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... ORPHA:179494
Otopalatodigital Syndrome, Type I
Delayed closure of the anterior fontanelle, Limited knee flexion, Capitate-hamate fusion, Accesso... OMIM:311300
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ... ORPHA:96121
Glutaric Acidemia I
Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation OMIM:231670
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, S... OMIM:606164
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Ambiguous genitalia, female, Bicornuate uterus, Unilateral renal agenesis OMIM:606408
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome... ORPHA:93929
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Streak ovary, Hypospadias, Dysplastic corpus callosum, Cryptorchidism, Uter... OMIM:618820
Larsen Syndrome
Conductive hearing impairment, Craniosynostosis, Accessory carpal bones, Large joint dislocations ORPHA:503
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Johanson-Blizzard Syndrome
Death in infancy, Hypoplasia of penis, Hypospadias, Abnormal vagina morphology, Abnormality of th... ORPHA:2315
Acrootoocular Syndrome
Sensorineural hearing impairment, Abnormal earlobe morphology, Pseudopapilledema, Atresia of the ... ORPHA:2980
17Q24.2 Microdeletion Syndrome
Otosclerosis, Microtia, Recurrent otitis media, Abnormality of the ankle, Progressive conductive ... ORPHA:529962
19P13.12 Microdeletion Syndrome
Craniosynostosis, External ear malformation, Sensorineural hearing impairment, Low-set ears, Cond... ORPHA:254346
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... ORPHA:813
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Cog5-Cdg
Cerebral white matter atrophy, Diffuse cerebral atrophy, Neurogenic bladder, Urinary incontinence... ORPHA:263487
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Paten... ORPHA:2473
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Coronal craniosynostosis ORPHA:2095
Pmm2-Cdg
Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating growth hormone concentration, Ne... ORPHA:79318
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:617877
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Low-set ears, Conduct... OMIM:613309
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Conductive hearing imp... ORPHA:276621
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Decreased fertility, ... ORPHA:2235
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Craniosynostosis OMIM:241520
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Hor... ORPHA:99776
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal... ORPHA:3301
Radio-Tartaglia Syndrome
Tremor, Large earlobe, Low-set ears, Conductive hearing impairment, Hearing impairment OMIM:619312
Mandibulofacial Dysostosis, Guion-Almeida Type
Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov... OMIM:610536
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl... ORPHA:785
Lateral Meningocele Syndrome
Vertebral fusion, Wormian bones, Posteriorly rotated ears, Abnormality of the middle ear ossicles... OMIM:130720
Recessive Dystrophic Epidermolysis Bullosa Inversa
Urethral stricture, Vaginal stricture, Abnormality of the urinary system ORPHA:79409
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Microcephaly, Basal ganglia calcification, Hydrocephalus, Dysplastic corp... OMIM:617281
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Kapur-Toriello Syndrome
Conductive hearing impairment, Joint contracture of the hand, Camptodactyly of finger, Low-set ears OMIM:244300
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebral atrophy, Leukoencephalopathy, Lateral ventricle dilatation, Ce... ORPHA:572798
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... ORPHA:887
Osteopathia Striata-Cranial Sclerosis Syndrome
Posteriorly rotated ears, Facial palsy, Low-set ears, Conductive hearing impairment, Delayed cran... ORPHA:2780
Congenital Disorder Of Glycosylation, Type Iig
Posteriorly rotated ears, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of the ... OMIM:611209
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Shawl s... OMIM:617516
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Hypoplasia of penis, Pachygyria, Polymicrogyria ORPHA:2328
Congenital Disorder Of Glycosylation, Type Iit
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:618885
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology, Abnormality of the uterus... ORPHA:1655
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Congenital posterior urethral valve, Hydro... OMIM:100100
Pseudotrisomy 13 Syndrome
Encephalocele, Renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Bicornuate uterus... OMIM:264480
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... OMIM:164745
16Q24.3 Microdeletion Syndrome
Colpocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:261250
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Facial palsy OMIM:123000
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment OMIM:126550
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Hypospadias, Death in childhood OMIM:619334
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Craniometaphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Optic atrophy, Facial palsy OMIM:218400
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Cupped ear, Radioulnar synostosis, Low-set ears, Conductive hearing i... OMIM:263750
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcepha... ORPHA:357058
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, Joint swelling, A... OMIM:618175
Distal Deletion 19P
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ears ORPHA:96129
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Mixed hearing impairment, Interphalangeal joint contracture of ... ORPHA:1826
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus, Abnormal renal morphology, Abnormality of... ORPHA:1666
Camptobrachydactyly
Septate vagina ORPHA:1319
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Hennekam-Beemer Syndrome
Camptodactyly of finger, Optic atrophy, Microtia, Conductive hearing impairment, Delayed cranial ... ORPHA:2135
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abnormality of the ureter, Ovarian cyst, Bladder polyp, Precocious pube... OMIM:175200
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Mixed hearing impairment, Enlarged joints, Sensorineural hearing impair... OMIM:215150
Van Maldergem Syndrome 1
Wide cranial sutures, Sensorineural hearing impairment, Radial head subluxation, Microtia, Atresi... OMIM:601390
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Recurrent otitis media, Conductive hearing impairment, Carpal bone hypoplasia, Genu ... OMIM:250420
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Renal malrotation, Decreased response to growth hormone stimulation test OMIM:615866
Rabin-Pappas Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia OMIM:620155
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of ... OMIM:619103
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Unilateral renal agenesis, Dysplastic corpus callosum, Horseshoe kidney, Micropenis,... ORPHA:363444
Waardenburg Syndrome
Conductive hearing impairment, Aganglionic megacolon, Hearing impairment ORPHA:3440
Currarino Syndrome
Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Septate vagina, Hor... OMIM:176450
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... OMIM:616331
Van Maldergem Syndrome 2
Wide cranial sutures, Sensorineural hearing impairment, Microtia, Atresia of the external auditor... OMIM:615546
Aicardi-Goutieres Syndrome 9
Renal insufficiency, Cerebral calcification, Proteinuria, Microcephaly, Basal ganglia calcificati... OMIM:619487
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Decreased fertility, Breast aplasia, Abnor... ORPHA:3138
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism... OMIM:261540
Apert Syndrome
Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Cervical... ORPHA:87
Chromosome 18Q Deletion Syndrome
Tremor, Sensorineural hearing impairment, Optic atrophy, Atresia of the external auditory canal, ... OMIM:601808
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Microcephaly, Hypoplastic anterior commissure, Renal cyst, Hypoplasia of the corpus ... OMIM:616975
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media OMIM:244400
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Lateral ventricle dilatation, Small pituitary gland, Hypoplasia of the corpus callos... OMIM:619479
Primary Ciliary Dyskinesia
Conductive hearing impairment, Recurrent otitis media, Chronic otitis media, Hearing impairment ORPHA:244
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Multiple pterygia, Hearing abnormality, Antecubital pterygium, Popliteal... ORPHA:2990
Giant Cell Arteritis
Vertigo, Optic atrophy, Arthritis, Conductive hearing impairment, Hearing impairment ORPHA:397
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Abnormality of the uterus, Renal hypoplasia/aplasia ORPHA:1788
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Hydrocephalus, Lateral ventricle dilatation, Death in childhood OMIM:612301
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl... OMIM:600057
Trisomy 20P
Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ... ORPHA:261318
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment OMIM:620012
Smith-Magenis Syndrome
Conductive hearing impairment, EEG abnormality, Chronic otitis media ORPHA:819
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Premature thelarche, Renal salt wasting, Isosexual precocious puberty, Prec... ORPHA:90795
Sotos Syndrome
Posteriorly rotated ears, Genu valgum, Low-set ears, Otitis media, Conductive hearing impairment,... OMIM:117550
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Low-set, posteriorly rotated ears ORPHA:1297
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Hydatidiform Mole
Menometrorrhagia, Miscarriage, Enlarged uterus ORPHA:99927
Chronic Mucocutaneous Candidiasis
Hematuria, Dyspareunia, Recurrent urinary tract infections, Abnormal vagina morphology ORPHA:1334
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal corpus callosum morphology, Abnor... ORPHA:457279
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Atresia of the external auditory canal OMIM:106260
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Microcephaly, Renal hypoplasia, Renal cyst, Colpocephaly, Vesicoureteral re... OMIM:618460
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Alagille Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Spina bi... ORPHA:52
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Dysplastic patella, Patellar aplasia, Hip dislocation, ... OMIM:265000
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment OMIM:606943
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Conductive hearing imp... ORPHA:29072
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Recurrent otitis media, Antecubital pterygium, Genu varum ORPHA:2502
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Hypospadias, Renal cortical microcysts, Macrogyria, Renal cyst, Death in adoles... OMIM:614866
Achondroplasia
Conductive hearing impairment, Limited elbow extension, Recurrent otitis media, Genu varum OMIM:100800
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Renal agenesis, Cryptorchidism, ... ORPHA:478
Mosaic Trisomy 1
Renal cyst, Renal cortical cysts, Lateral ventricle dilatation, Micropenis, Polymicrogyria, Agene... ORPHA:1692
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Small scrotum, Abnormality of the ureter ORPHA:3253
Congenital Fibrinogen Deficiency
Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Multiple Pterygium-Malignant Hyperthermia Syndrome
Conductive hearing impairment, Prominent metopic ridge, Posteriorly rotated ears, Camptodactyly o... ORPHA:2215
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy, Partial agenesis of the corpus callosum, Bicornua... OMIM:222448
Cerebrofacioarticular Syndrome
Hypospadias, Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Hypoplasia of the corpus... ORPHA:314679
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Thickened helices, Mixed hearing impairment, Overfolded helix, Low-set ears OMIM:608624
Rhombencephalosynapsis
Hydrocephalus, Abnormal renal morphology, Abnormality of the uterus ORPHA:59315
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Sensorineural hearing impairment, Cupped ear, Optic disc coloboma, Low-... OMIM:300472
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Abnormal pinna morphology, Posteriorly rotated ears, Craniosynostosis, Genu valg... OMIM:182212
Codas Syndrome
Congenital hip dislocation, Sensorineural hearing impairment, Genu valgum, Delayed ossification o... OMIM:600373
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Cryptorchidism, Ep... ORPHA:289
Donohue Syndrome
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy OMIM:246200
Fixed Drug Eruption
Vaginal mucosal ulceration ORPHA:293812
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Renal hypoplasia, Hypoplasia of the ovary, Micropenis, Decreased testicular size OMIM:619321
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter ORPHA:1035
Frontorhiny
Low-set, posteriorly rotated ears, Congenital conductive hearing impairment, Camptodactyly of finger ORPHA:391474
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment OMIM:602080
Larsen Syndrome
Vertebral fusion, Elbow dislocation, Dislocated wrist, Accessory carpal bones, Hip dislocation, K... OMIM:150250
Hunter-Macdonald Syndrome
Sensorineural hearing impairment, Premature osteoarthritis, Conductive hearing impairment, Cubitu... OMIM:611962
Shprintzen-Goldberg Syndrome
Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Protrudin... ORPHA:2462
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... OMIM:193300
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... OMIM:619869
Immunodeficiency 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:615816
Down Syndrome
Conductive hearing impairment, Aganglionic megacolon, Round ear ORPHA:870
Noonan Syndrome 9
Cryptorchidism, Hydroureter OMIM:616559
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Posteriorly rotated ears, Tarsal synostosis, Congenital sensorineural hearing ... OMIM:157800
Mohr Syndrome
Conductive hearing impairment, Wormian bones OMIM:252100
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Abnormal ovarian morphology, Vesicoureteral reflux, Micr... ORPHA:95699
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Colpocephaly, Chordee, Hypoplasia of the corpus callosum, Cerebral white matter hypo... ORPHA:477993
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Distal Deletion 10Q
Microcephaly, Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Lateral ventricl... ORPHA:96148
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:90354
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Microcephaly, Horseshoe kidney, Colpocephaly, Congenital posterior urethral valve, P... OMIM:620083
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Absenc... OMIM:129900
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of the... ORPHA:75857
Meckel Syndrome, Type 1
Occipital encephalocele, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, ... OMIM:249000
Baller-Gerold Syndrome
Conductive hearing impairment, Abnormal carpal morphology, Aplasia/Hypoplasia of the patella ORPHA:1225
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Hydrocephalus, Ureteral agenesis, ... OMIM:617667
Fanconi Anemia
Abnormality of the uterus, Hypospadias, Spina bifida, Cryptorchidism, Patent ductus arteriosus, A... ORPHA:84
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Lateral ventricle dilatation, Cortical dysplasia, Hydronephrosis OMIM:617557
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Sensorineural hearing impairment, Low-set ears, Conductive hearing impairment, Coronal craniosyno... OMIM:235510
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Renal cyst, Holoprosenceph... OMIM:270400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Absenc... OMIM:604292
Holoprosencephaly 13, X-Linked
Colpocephaly, Microcephaly, Agenesis of corpus callosum, Septo-optic dysplasia OMIM:301043
2Q37 Microdeletion Syndrome
Conductive hearing impairment ORPHA:1001
Meier-Gorlin Syndrome 6
Posteriorly rotated ears, Patellar aplasia, Microtia, Conductive hearing impairment, Stenosis of ... OMIM:616835
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Bicornuate uterus, Ap... OMIM:200980
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis, Umbilica... ORPHA:2241
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Bicornuate uterus, Hypoplasia of the ovary, Hypop... ORPHA:79328
Mucolipidosis Type Ii
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Sensorineural... ORPHA:576
Pallister-Hall Syndrome
Decreased testicular size, Thyroid dysgenesis, Renal dysplasia, Hydroureter, Decreased response t... OMIM:146510
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Sensorineura... ORPHA:581
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bicornuate uterus, Labial ... ORPHA:140952
3Mc Syndrome 1
Radioulnar synostosis, Lambdoidal craniosynostosis, Conductive hearing impairment, Coronal cranio... OMIM:257920
Den Hoed-De Boer-Voisin Syndrome
Microcephaly, Death in adolescence, Lateral ventricle dilatation, Secondary microcephaly, Ventric... OMIM:619229
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Anencephaly, Stillbirth, Severe hydrocephalus, Adrenal gland dysgenesi... OMIM:236680
Fraser Syndrome
Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ... ORPHA:2052
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment ORPHA:309288
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... ORPHA:2059
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Microtia OMIM:619817
Oculodentodigital Dysplasia
Camptodactyly of finger, External ear malformation, Abnormality of the ear, Madelung deformity, O... ORPHA:2710
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, ... OMIM:201750
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Abnormal pinna morphology, Sensorineural hearing imp... OMIM:617137
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital hip dislocation, Sensorineural hearing impairment, Dislocated wrist, Hip dislocation, ... ORPHA:536545
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Cupped ear, Low-set ears OMIM:615560
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of th... ORPHA:722
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Partial agenesis of th... OMIM:210710
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Abnormal renal morphology, Hypoplastic labia majora, Vaginal atresia, Fused labia ... OMIM:207410
Cerebrooculonasal Syndrome
Posteriorly rotated ears, Optic nerve hypoplasia, Craniosynostosis, Low-set ears, Conductive hear... OMIM:605627
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microtia OMIM:603467
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Tremor, Low-set, posteriorly rotated ears ORPHA:2754
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Neonatal death, Micropenis OMIM:617925
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hip contracture, Knee flexion contracture, Congenital bilateral hip dislocation, Bilateral conduc... ORPHA:488642
Acro-Renal-Ocular Syndrome
Vertebral fusion, Aganglionic megacolon, Sensorineural hearing impairment, Optic disc coloboma, C... ORPHA:959
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Hyperparathyroidism, Unilateral renal agenesis, Patent ductus arteri... OMIM:618188
Bainbridge-Ropers Syndrome
Death in infancy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:615485
Oculodentodigital Dysplasia
Abnormal pinna morphology, Hip dislocation, Joint contracture of the 5th finger, Conductive heari... OMIM:164200
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618367
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Decreased nerve conduction velocity, Sensorineural hearing impairment,... ORPHA:580
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Bicornuat... ORPHA:2745
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, Optic atrop... ORPHA:217085
Cornelia De Lange Syndrome 1
Abnormal incisura morphology, Sensorineural hearing impairment, Optic disc coloboma, Elbow flexio... OMIM:122470
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears OMIM:618500
Bardet-Biedl Syndrome 1
Abnormality of the kidney, Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, D... OMIM:209900
Cystic Echinococcosis
Membranous nephropathy, Abnormality of the testis size, Renal cyst, Ovarian cyst ORPHA:400
Pgm3-Cdg
Conductive hearing impairment, Mild neurosensory hearing impairment, Chronic otitis media, Sensor... ORPHA:443811
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, Optic atrop... ORPHA:217093
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Rectoperine... ORPHA:857
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Genu recurvatum, Recurrent shoulder dislocation, Severe conductive hearing imp... ORPHA:230851
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Conductive hearing impairment, Mixed hearing impairment, Overfolded helix, Sensorineural hearing ... OMIM:300990
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Diphallia
Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista... ORPHA:227
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Absent septum pellucidum, Microcephaly, Abnormal cerebral white matter morpholo... OMIM:300868
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Rectovaginal fistula, Renal duplication OMIM:270420
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... ORPHA:562
Kabuki Syndrome
Sensorineural hearing impairment, Hip dislocation, Protruding ear, EEG abnormality, Conductive he... ORPHA:2322
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Large basal ganglia, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvi... ORPHA:261552
Monosomy 18Q
Choreoathetosis, Sensorineural hearing impairment, Macrotia, Bilateral conductive hearing impairment ORPHA:1600
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Prominent antihelix, Conductive heari... ORPHA:466943
Trisomy 8P
Posteriorly rotated ears, Metopic suture patent to nasal root, Aplasia/Hypoplasia of the tragus, ... ORPHA:264450
Hajdu-Cheney Syndrome
Wormian bones, Genu valgum, Large earlobe, Crowded carpal bones, Low-set ears, Conductive hearing... OMIM:102500
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Toxic Epidermal Necrolysis
Abnormality of the urethra, Renal insufficiency, Abnormal vagina morphology, Dysuria ORPHA:537
Meckel Syndrome
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreat... ORPHA:564
Osteopathia Striata With Cranial Sclerosis
Posteriorly rotated ears, Facial palsy, Delayed closure of the anterior fontanelle, Microtia, Low... OMIM:300373
Weaver Syndrome
Lateral ventricle dilatation, Absent septum pellucidum, Ventriculomegaly OMIM:277590
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Wormian bones, Sensorineural hearing... ORPHA:444077
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal ORPHA:1393
Orofaciodigital Syndrome Type 4
Joint dislocation, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Abn... ORPHA:2753
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryp... OMIM:229850
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Pachygyria, Polycystic kidney dysplasia, Micropenis OMIM:263520
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Renal hypoplasia/aplasia, Patent ductus arteriosus, Abnormality of female external genitalia, Vag... ORPHA:1112
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ... ORPHA:201
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Bosma Arhinia Microphthalmia Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Atresia of the external auditory canal,... OMIM:603457
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:277170
Feingold Syndrome Type 1
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:391641
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Facial palsy, Optic disc coloboma, Severe sensorineural hearing impairm... OMIM:620186
Acrofacial Dysostosis 1, Nager Type
Posteriorly rotated ears, Aganglionic megacolon, Hip dislocation, Radioulnar synostosis, Atresia ... OMIM:154400
Congenital Myopathy 13
Conductive hearing impairment, Low-set ears OMIM:255995
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Conductive hearing impairment, Camptodactyly of finger, Low-set, posteriorly rotated ears ORPHA:306542
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Conductive hearing impairment, Hip contracture, Macrotia, Calcification of the auricular cartilage ORPHA:3042
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation,... OMIM:300896
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Acrofrontofacionasal Dysostosis 1
Mixed hearing impairment, Optic atrophy, Acetabular dysplasia OMIM:201180
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Mixed hearing impairment, Block vertebrae, Tarsal synostosis, Capitate-hamate f... OMIM:272460
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Hydrometrocolpos, Vaginal atresia, Horseshoe kidney OMIM:617088
Pycnodysostosis
Persistent open anterior fontanelle, Mild conductive hearing impairment, Wormian bones, Coronal c... ORPHA:763
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, External ear malformation, Low-set ears, Conductive he... ORPHA:2136
Native American Myopathy
Conductive hearing impairment ORPHA:168572
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Townes-Brocks Syndrome 1
Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re... OMIM:107480
Leukocyte Adhesion Deficiency Type Ii
Conductive hearing impairment, Small earlobe, Microtia, Recurrent otitis media ORPHA:99843
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Prominent metopic ridge, Optic nerve hypoplasia, Sagittal craniosynostosis, Craniosynostosis, Sen... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Prominent metopic ridge, Optic nerve hypoplasia, Sagittal craniosynostosis, Craniosynostosis, Sen... ORPHA:352665
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Death in childho... OMIM:300661
Chand Syndrome
Hydroureter, Imperforate hymen ORPHA:1401
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Apert Syndrome
Cryptorchidism, Hydrocephalus, Hydronephrosis, Agenesis of corpus callosum, Vaginal atresia OMIM:101200
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Microcephaly OMIM:614098
Treacher-Collins Syndrome
Blepharospasm, Microtia, Conductive hearing impairment, Abnormality of the middle ear, Narrow int... ORPHA:861
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conductive hearing impairment, Protruding ear ORPHA:1071
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Varicocele, Goiter OMIM:615109
Fraser Syndrome 1
Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningocele, Hydroceph... OMIM:219000
Cockayne Syndrome Type 3
Optic disc pallor, Adult onset sensorineural hearing impairment, Conductive hearing impairment, M... ORPHA:90324
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Posteriorly rotated ears, Elbow flexion contracture, Low-set ears, Co... OMIM:117650
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal... ORPHA:177907
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Chordee, Ag... OMIM:151050
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Treacher Collins Syndrome 1
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:154500
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Splenopancr... OMIM:269150
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Contracture of the proximal interpha... ORPHA:314585
Baller-Gerold Syndrome
Carpal synostosis, Bicoronal synostosis, Mixed hearing impairment, Posteriorly rotated ears, Opti... OMIM:218600
Genitopatellar Syndrome
Multicystic kidney dysplasia, Microcephaly, Hydronephrosis, Colpocephaly, Micropenis, Pachygyria,... OMIM:606170
Down Syndrome
Conductive hearing impairment, Aganglionic megacolon, Microtia, Shallow acetabular fossae OMIM:190685
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Varicocele, Goiter OMIM:158350
Branchiooculofacial Syndrome
Posteriorly rotated ears, Facial palsy, Sensorineural hearing impairment, Elbow flexion contractu... OMIM:113620
Faundes-Banka Syndrome
Cupped ear, Microtia, Long ear, Low-set ears, Conductive hearing impairment OMIM:619376
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Marshall-Smith Syndrome
Optic nerve hypoplasia, Craniosynostosis, Bilateral conductive hearing impairment, Low-set ears, ... OMIM:602535
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst, Hypothalamic hamart... OMIM:311200
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Imperforat... OMIM:619522
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Patent... ORPHA:567
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Limited elbow movement, Sagittal craniosynostosis, Hip subluxa... ORPHA:221120
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear... ORPHA:2363
Neu-Laxova Syndrome 1
Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, Stillbirth,... OMIM:256520
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... ORPHA:2044
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Nephrocalcinosis, Congenital post... OMIM:136140
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Conductive hearing impairment, Contracture of the proximal interphalangeal join... OMIM:280000
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys, Renal hypoplasia/aplasia ORPHA:958
Schwartz-Jampel Syndrome
Death in infancy, Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, ... ORPHA:800
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, C1-C2 subluxation, Optic nerve hypoplasia ORPHA:79345
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Torticollis, Posteriorly rotated ears, Phalangeal dislocation, Large jo... ORPHA:536467
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Ovarian Hyperstimulation Syndrome
Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ... ORPHA:64739
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Lathosterolosis
Conductive hearing impairment OMIM:607330
Campomelic Dysplasia
Hearing impairment, Contracture of the distal interphalangeal joint of the fingers, Hip dislocati... OMIM:114290
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, Endometrial carcinoma ORPHA:457212
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Cranial nerve compression, Macrotia, Optic atrophy ORPHA:2785
Bartsocas-Papas Syndrome 1
Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia majora, Bi... OMIM:263650
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Prostatitis, Chronic kidney disea... ORPHA:449395
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Periventricular leukomalacia, Unilateral renal agenesis, Dysplastic corpus callosum, Simplified g... ORPHA:500150
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Lateral ventric... OMIM:181270
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus... ORPHA:93271
White-Kernohan Syndrome
Dysplastic corpus callosum, Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Labial hypertrophy, Nephrolithiasis, Polycystic ovaries, Umbilica... OMIM:608594
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Breast hypoplasia, Bic... OMIM:181450
Distal Deletion 12Q
Prominent ear helix, Elbow flexion contracture, Microtia, Bilateral conductive hearing impairment... ORPHA:96149
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Sensorineural hearing impairment, Opt... ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Camptodact... OMIM:607872
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Turnpenny-Fry Syndrome
Torticollis, Microtia, Low-set ears, Conductive hearing impairment, Satyr ear OMIM:618371
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Mixed hearing impairment, Craniosynostosis, Sensorineural hearing impairment, ... ORPHA:309282
Hereditary Orotic Aciduria
Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Oro... ORPHA:30
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Labial hypertrophy, Nephrolithiasis, Decreased fertility, Polycys... OMIM:269700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Sensorineural hearing impairment, EEG abnormality, Patellar dislocation, Otitis media, Conductive... ORPHA:353281
Microsporidiosis
Abnormality of the parathyroid gland, Urethritis, Abnormal endometrium morphology, Abnormality of... ORPHA:2552
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis no... OMIM:615873
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Dysplastic corpus callosum, Horseshoe kidney, Abnormal cereb... OMIM:617140
Microphthalmia, Syndromic 2
Hypospadias, Septate vagina, Cryptorchidism, Patent ductus arteriosus, Umbilical hernia OMIM:300166
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hypospadias, Nephrolithiasis, Secondary microcephaly, Vesi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hypospadias, Nephrolithiasis, Secondary microcephaly, Vesi... ORPHA:353277
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears, Protruding ear, Lo... OMIM:259775
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hypercalciuri... ORPHA:508
Beckwith-Wiedemann Syndrome
Otosclerosis, Prominent metopic ridge, Abnormal earlobe morphology, Anterior creases of earlobe, ... ORPHA:116
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Protruding ear ORPHA:2751
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, High-frequency sensorineural hearing impairment, Limited wrist ... ORPHA:740
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Elbow dislocation, Sensorineural hearing impairment, Hip dislo... ORPHA:199
Johanson-Blizzard Syndrome
Hypospadias, Septate vagina, Urethrovaginal fistula, Cryptorchidism, Rectovaginal fistula, Hypopl... OMIM:243800
Kabuki Syndrome 1
Crossed fused renal ectopia, Microcephaly, Hydrocephalus, Micropenis, Lateral ventricle dilatatio... OMIM:147920
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Patent ductus arteriosus, Dilatation of the renal pelvis, Dilatation of... OMIM:265380
Fontaine Progeroid Syndrome
Posteriorly rotated ears, Craniosynostosis, Low-set ears, Conductive hearing impairment, Coronal ... OMIM:612289
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Pituitary growth hormone c... ORPHA:1359
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... ORPHA:2729
Degcags Syndrome
Posteriorly rotated ears, Craniosynostosis, Sensorineural hearing impairment, Genu valgum, Unilat... OMIM:619488
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Posteriorly rotated ears, Wormian bones, Delayed closure of the anter... OMIM:304120
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Long penis, Frontal encephaloc... OMIM:268300
Choreoacanthocytosis
Caudate atrophy, Abnormal putamen morphology, Lateral ventricle dilatation, Frontal cortical atro... ORPHA:2388
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, C... ORPHA:261537
Sotos Syndrome
Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Craniosynostosis, Tremor, Bila... ORPHA:821
Craniofacial Microsomia 1
Block vertebrae, Sensorineural hearing impairment, Genu valgum, Anotia, Microtia, Atresia of the ... OMIM:164210
Adams-Oliver Syndrome 1
Encephalocele, Imperforate hymen, Supernumerary nipple OMIM:100300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst OMIM:300967
Trichorhinophalangeal Syndrome, Type Ii
Vesicoureteral reflux, Bilateral cryptorchidism, Hydrometrocolpos OMIM:150230
Mowat-Wilson Syndrome
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A... ORPHA:2152
Primary Sjögren Syndrome
Renal insufficiency, Glomerulonephritis, Abnormality of the kidney, Tubulointerstitial nephritis,... ORPHA:289390
Chronic Graft Versus Host Disease
Hematuria, Urinary bladder inflammation, Abnormal vagina morphology, Phimosis ORPHA:99921
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Vaginal dryness, Dysuria, Renal tubular epithelial necrosis, Hematuria... ORPHA:95455
Branchioskeletogenital Syndrome
Attached earlobe, Large earlobe, Mixed hearing impairment, Craniosynostosis ORPHA:1299
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Neurooculorenal Syndrome
Mixed hearing impairment, Sensorineural hearing impairment OMIM:620305
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Patent duc... OMIM:188400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalu... OMIM:619534
Robinow Syndrome
Fused thoracic vertebrae, Mixed hearing impairment, Posteriorly rotated ears, Low-set ears ORPHA:97360
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Bladder diverticulum, Umbilical hernia, Cervical insufficiency ORPHA:287
Loeys-Dietz Syndrome
Patent ductus arteriosus, Uterine rupture ORPHA:60030
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Anterior pituitary hypoplasia, Hypoplasia of the corpus callosum ORPHA:466791
Osteogenesis Imperfecta
Mixed hearing impairment, Protrusio acetabuli, Hearing impairment, Osteoarthritis, Genu valgum, P... ORPHA:666
Witteveen-Kolk Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Microcephaly, Phimosis, Dyspl... OMIM:613406
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, EEG abnormality, Abnormal cochle... ORPHA:649
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... ORPHA:286
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,... OMIM:619503
Focal Dermal Hypoplasia
Mixed hearing impairment, Congenital hip dislocation, Optic atrophy, Low-set ears, Stenosis of th... OMIM:305600
Congenital Tracheal Stenosis
Patent ductus arteriosus, Abnormality of the ureter, Abnormality of the kidney ORPHA:141127
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Microtia, Cupped ear, Hearing impairment OMIM:149730

Histopathology

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

There is no histopathology data for Emx2

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 Emx2.

No publications found that use IMPC mice or data for Emx2.

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
Emx2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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