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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
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum 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
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
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
Megalencephaly, Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventr... OMIM:620315
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Primary micro... OMIM:614019
Deafness, Autosomal Dominant 11
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Abnormal vestibular function, Vertigo OMIM:600060
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... OMIM:185800
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Abnormal vestibular function, Bilateral sensorineural hearing i... OMIM:610265
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment, Absent vestibular function OMIM:607084
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
Auditory Neuropathy, Autosomal Dominant 2
Sensorineural hearing impairment, Abnormal speech discrimination OMIM:620384
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Ven... OMIM:604213
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616357
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619174
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616969
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618410
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618481
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment, Abnormal vestibular function OMIM:609965
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment, Abnormal vestibular function OMIM:605583
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618422
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment, Joint contracture of the hand OMIM:224800
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Abnormal vestibula... OMIM:601869
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Conductive hearing impairm... OMIM:184460
Deafness, Autosomal Recessive 57
Hearing impairment, Sensorineural hearing impairment, Abnormal vestibular function OMIM:618003
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla... ORPHA:755
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
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
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618787
46,Xy Sex Reversal 11
Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin... OMIM:273250
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 4B
Sensorineural hearing impairment, Abnormal vestibular function OMIM:614614
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Bifid scrotum, Male pseudohermaphroditism, Cryptorchidism, Hypo... OMIM:312300
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Renal Agenesis
Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena... ORPHA:411709
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... ORPHA:90797
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Mild malformation of cortical development, Abnormal... ORPHA:500166
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum, Abnormality of ... OMIM:617542
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Abnormal vestibular function OMIM:607821
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t... ORPHA:3109
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, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ... 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 37
Sensorineural hearing impairment OMIM:618533
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 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, 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
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
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 Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
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
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 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 Recessive 51
Sensorineural hearing impairment OMIM:609941
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Thick cerebral cortex, Lateral ventricle dilatation, Cerebral hypoplasia ORPHA:101071
Band Heterotopia
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort... OMIM:600348
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Death in infancy, Cerebral hypoplasia, Lateral ventricle dilatation, Primary mi... OMIM:618266
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Dilated third ventricle, Corpus callosum atrophy, Microcephaly, Simplified gyra... OMIM:619244
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Hyp... ORPHA:93111
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Micropenis, Lateral ventricle dilatation OMIM:300982
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Azoospermia, Bicornuate uterus, Renal agenesis, Aplasia/hypoplasia of the uterus,... ORPHA:2578
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu... OMIM:600638
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:108760
Congenital Bilateral Absence Of Vas Deferens
Abnormal renal morphology, Oligozoospermia, Absent vas deferens, Obstructive azoospermia ORPHA:48
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A... ORPHA:300573
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Ventriculomegaly And Arthrogryposis
Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Congenital Hydrocephalus
Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Small cerebral cortex, Colpocephaly, Ve... ORPHA:2185
Craniodiaphyseal Dysplasia
Optic atrophy, Stenosis of the external auditory canal, Conductive hearing impairment ORPHA:1513
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Deafness, Autosomal Recessive 121
Sensorineural hearing impairment, Vestibular hypofunction OMIM:620551
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl... OMIM:608716
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Microcephaly, Cerebral cortical atrophy, Abnormal cerebral white matter morphol... OMIM:617668
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:168558
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Dysplastic corpus callosum, Secondary microcephaly, Reduced cerebral white matter volume, Hyperin... OMIM:620317
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventr... OMIM:617296
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:289548
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Short corpus callosum OMIM:619972
Lissencephaly, X-Linked, 1
Agyria, Death in infancy, Pachygyria, Agenesis of corpus callosum, Lissencephaly, Micropenis OMIM:300067
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Radioulnar synostosis ORPHA:71289
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Death in infancy ORPHA:85334
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ... OMIM:614527
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Breast hypoplasia, Small pituitary gland, Agonadism, Hypergonadotropic hypogonadism, Aplasia/hypo... ORPHA:2232
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... OMIM:615889
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Agenesis of... ORPHA:101029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Dilated third ventricle, Lateral... OMIM:613154
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno... OMIM:214300
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment OMIM:610738
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum ORPHA:200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux... ORPHA:2237
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Azoospermia OMIM:277180
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Conductive hearing impairment, Symphalangism of the 4th finger, Symphalangi... ORPHA:3246
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Tenosynovial Giant Cell Tumor
Abnormality of the wrist, Synovial lining hyperplasia, Polyarticular arthropathy, Abnormal audito... ORPHA:66627
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the wrist, Bilateral conductive hearing impairment, Abnormality... ORPHA:2010
Leopard Syndrome 1
Unilateral renal agenesis, Hypospadias, Spina bifida occulta, Hypoplasia of the ovary, Cryptorchi... OMIM:151100
Meckel Syndrome 14
Occipital encephalocele, Polycystic kidney dysplasia, Aplasia of the uterus, Holoprosencephaly, A... OMIM:619879
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Lateral ventricle dilatation OMIM:616816
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Thin corpus callosum, Cortical dysplasia, Dysgenesis of the basal ganglia, Dilated fourth ventric... OMIM:615771
Otosclerosis 10
Otosclerosis OMIM:615589
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory can... ORPHA:100084
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Rudiger Syndrome
Bicornuate uterus, Death in infancy, Ovarian cyst, Ureterovesical stenosis, Micropenis OMIM:268650
Alg2-Cdg
Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat... ORPHA:79326
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Vesicoureteral reflux, Microcephaly, Colpocephaly, Agenesis of corpus... OMIM:619955
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Axial malrotation of the kidney, Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... OMIM:194072
Lissencephaly 3
Hypoplasia of the corpus callosum, Lissencephaly, Polymicrogyria, Agyria, Microcephaly, Agenesis ... OMIM:611603
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin corpus callosum, Death in childhood, Microcephaly, Lateral ventricle dilatation, Partial age... OMIM:619517
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... ORPHA:1916
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Hydrocephalus, Aplasia of the uterus, Agenesis ... ORPHA:457284
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia, Joint contracture of the 5th finger OMIM:248910
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Hyperintensity... ORPHA:544488
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Elbow dislocation, Aplasia... ORPHA:3236
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment, Congenital hip dislocation OMIM:133705
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation OMIM:618890
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Genu valgum OMIM:132450
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Lissencephaly Due To Tuba1A Mutation
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Polymicrogyria, Hyp... ORPHA:171680
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Lateral ventricle dilatation, Corpus callosum atrophy ORPHA:77299
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Tarsal synostosis, Cubitus valgus, Dislocated radial he... OMIM:186500
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Dystonia, Choreoathetosis OMIM:618497
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux, Hypoplasia of the frontal lobes, Microcephaly, ... ORPHA:2512
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl... OMIM:601076
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Renal cortical cysts, Dandy-Walker malformation, Abnormal basal ganglia morphology, ... ORPHA:397715
Phocomelia, Schinzel Type
Meningocele, Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Decreased response to growth hormone stimulation test ORPHA:502430
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Conductive hearing impairment, Tremor OMIM:619473
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal periventricular white matter morphology, Dilated fourth ventricle, Abnormal cerebral whi... OMIM:613443
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Microcephaly 20, Primary, Autosomal Recessive
Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at... OMIM:617914
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Hypospadias, Cavum septum pellucidum, Dilate... ORPHA:464738
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Death in childhood, Hydrocephalus, Death in ... OMIM:616034
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Frasier Syndrome
Ambiguous genitalia, male, Glomerulopathy, Focal segmental glomerulosclerosis, Male pseudohermaph... ORPHA:347
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal basal ganglia morphology, Abnormal ... ORPHA:255182
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Sensorineural hearing impairment, Conductive hearing impairmen... ORPHA:1522
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb... OMIM:620156
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Hydrocephalus, Aplasia of the uterus, Renal hypoplasia, Micropenis OMIM:614083
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Agenesis of the anterior commis... ORPHA:300570
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, EEG with generalized epileptiform discharges OMIM:617976
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Myelomeningocele, Cryptorchidism, Uterus didelphy... ORPHA:1756
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... ORPHA:90794
Limb-Mammary Syndrome
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... ORPHA:69085
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Urinary incontinence, Basal ganglia calcific... OMIM:221770
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Periventricular leukomalacia, Thin corpus callosum, Hydranencephaly, Hydrocephalus, Polymicrogyri... OMIM:620371
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:618736
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Meckel Syndrome 12
Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Agenesis of cor... OMIM:616258
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l... OMIM:612290
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Sensorineural hearing impairment, Craniosynostosis ORPHA:2866
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ... ORPHA:79243
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment OMIM:608653
Abruzzo-Erickson Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Macrotia, Radioulnar synostosis ORPHA:921
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Hear... OMIM:118100
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c... OMIM:278850
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Dilated third ventricle, Abnormal periventricular white matter morphology OMIM:619725
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Tremor, Adult onset sensorineural hearing impairment, Decreased... ORPHA:1368
Ramon Syndrome
Sensorineural hearing impairment, Conductive hearing impairment ORPHA:3019
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Basal ganglia gliosis, Cerebral cortical atrophy, L... OMIM:607596
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Recurrent otitis media, Low-set ears OMIM:616910
Thrombocytopenia-Absent Radius Syndrome
Renal malrotation, Ureteral duplication, Vesicoureteral reflux, Aplasia of the uterus, Death in i... OMIM:274000
Hemifacial Microsomia With Radial Defects
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:141400
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Hydrocephalus, Lateral ventricle dilatation, Ventriculomega... OMIM:602200
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct... OMIM:154230
Cystic Fibrosis
Absent vas deferens, Nephrolithiasis ORPHA:586
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Patent ductus arteriosus, Aplasia of the uterus, Bifid ... OMIM:618280
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Aplasia of the vagina OMIM:193500
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Lateral ventricle dilatation OMIM:618330
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Hydrocephalus, Cerebral white ma... ORPHA:500055
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Thin corpus callosum, Progressive microcephaly, Cortical dyspl... OMIM:615574
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Otofaciocervical Syndrome
Abnormal antihelix morphology, Atresia of the external auditory canal, Macrotia, Conductive heari... ORPHA:2792
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi... OMIM:194080
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Cleft Velum
Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Pallister-Killian Syndrome
Stillbirth, Aplasia of the upper vagina, Hypospadias, Small scrotum, Patent ductus arteriosus, La... OMIM:601803
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia ORPHA:2213
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Decreased glomerular filtration ra... ORPHA:488627
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment ORPHA:3145
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear OMIM:615706
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus, Death in infancy OMIM:258320
Joubert Syndrome 3
Thin corpus callosum, Nephronophthisis, Frontal polymicrogyria, Enlarged fossa interpeduncularis,... OMIM:608629
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation OMIM:615716
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Conductive hearing impairment OMIM:618063
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis OMIM:618841
Craniosynostosis 6
Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:616602
Osteogenesis Imperfecta, Type Iv
Hearing impairment, Otosclerosis, Wormian bones OMIM:166220
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, Penile hypospadias, ... ORPHA:456328
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Simplified gyral pattern, La... ORPHA:284417
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal death, Lateral ventricle dilatation OMIM:610015
Normosmic Congenital Hypogonadotropic Hypogonadism
Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov... ORPHA:432
Holoprosencephaly 5
Hydrocephalus, Microcephaly, Lateral ventricle dilatation OMIM:609637
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Renal tubular acidosis OMIM:619575
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Aicardi Syndrome
Cavum septum pellucidum, Dandy-Walker malformation, Choroid plexus cyst, Polymicrogyria, Dilated ... OMIM:304050
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Low-set ears, Radioulnar synostosis OMIM:614701
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level... OMIM:612964
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Increased circulating gonadotropin level, S... ORPHA:243
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Crouzon Syndrome
Optic atrophy, Multiple suture craniosynostosis, Hearing impairment, Conductive hearing impairmen... ORPHA:207
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency, Patent ductus arteriosus, Abnormal vagina morphology ORPHA:2123
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:300946
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum, ... OMIM:307000
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Synostosis of carpal bones ORPHA:3238
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, Subependymal cysts, Multifocal cerebral white matter abnormalities, Lateral ve... OMIM:600721
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Mixed hearing impairment, Congenital sensorineural hearing impairment ORPHA:2698
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Microtia, Abnormality of the middle ear, Conductive hearing im... ORPHA:246
Larsen-Like Syndrome
Conductive hearing impairment, Recurrent otitis media, Low-set ears, Joint dislocation OMIM:608545
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum, Neonatal death, Mild fetal ventriculomegaly OMIM:610498
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, R... ORPHA:2842
Hematuria, Benign Familial, 2
Sensorineural hearing impairment OMIM:620320
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Lissencephaly, Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Simplified... OMIM:615219
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Urogenital sinus anomaly, Bifid scrotum, Cryptorc... ORPHA:753
Craniotelencephalic Dysplasia
Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, Lissencephaly ORPHA:1528
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the inner ear, Sensorineural hearing impairment, Microtia, Abnormality of the midd... ORPHA:2549
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder, Thin corpus callosum, Pachygyria, Abnormality of the anterior commissure ORPHA:572013
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears OMIM:618672
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Lateral ventricle dilatation ORPHA:85290
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Stenosis of the external auditory canal, Atresia of the external auditory canal, Conductive heari... OMIM:608257
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Death in infancy, Microcephaly, Neonatal death, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Branchiogenic-Deafness Syndrome
Atresia of the external auditory canal, Sensorineural hearing impairment, Mixed hearing impairmen... OMIM:609166
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum OMIM:619466
Deafness, Autosomal Recessive 77
Tinnitus, Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:613079
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Hypospadias OMIM:620135
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor ORPHA:66633
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hydroureter, Hydronephrosis, Vaginal atresia, Hypogonadism, Cystic renal dysplasia OMIM:615989
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Thin corpus callosum, Reduced cerebral white matter volume, Colpocephaly,... OMIM:620352
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Death in infancy, Neonatal death, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ... OMIM:608709
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Spina bifida occulta, Patent duct... OMIM:135900
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Miscarriage, Renal cyst, Death in infancy, Hydronephrosis, Neonatal ... OMIM:613390
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Bardet-Biedl Syndrome 6
Vaginal atresia, External genital hypoplasia, Hypospadias, Renal cyst OMIM:605231
Acrocraniofacial Dysostosis
Genu valgum, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal pinna ... ORPHA:949
Microtia
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... ORPHA:83463
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Wormian bones, Posteriorly rotated ears OMIM:617808
Zechi-Ceide Syndrome
Abnormal earlobe morphology, Stenosis of the external auditory canal, Abnormal helix morphology, ... ORPHA:217017
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Renal hypoplasia/aplasia, Abnormality of the ureter, Umbilical hernia, Polycy... ORPHA:1770
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Myelomeningocele, Spina bifida, Renal agenesis... ORPHA:83628
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, 3-Methylglutaconic aciduria, Death in childhood, Microcephaly, Renal ... OMIM:604273
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Elevated urinary aminoisobutyric acid, Thin corpus callosum, B... OMIM:614105
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Osteogenesis Imperfecta, Type I
Hearing impairment, Otosclerosis, Wormian bones OMIM:166200
Non-Functioning Paraganglioma
Tremor, Cranial nerve compression, Conductive hearing impairment, Paroxysmal vertigo, Pulsatile t... ORPHA:94080
Bilateral Generalized Polymicrogyria
Microcephaly, Diffuse white matter abnormalities, Lateral ventricle dilatation, Hypoplasia of the... ORPHA:208447
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Abnormality of the middle ear, Atresia of the external auditor... ORPHA:1488
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Abnormal vestibular function, Vestibular areflexia OMIM:616042
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebral white matter atrophy, Agyria,... ORPHA:2148
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Progressive cervical vertebral s... OMIM:135100
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormality of the wrist, Tarsal synostosis, Low-set, posteriorly rotated ears, Sensorineural hea... ORPHA:1307
Popliteal Pterygium Syndrome
Spina bifida occulta, Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hyp... OMIM:119500
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Neonatal death OMIM:615524
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular ... OMIM:616900
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Microcephaly, Renal... OMIM:609053
Treacher Collins Syndrome 2
Fusion of middle ear ossicles, Conductive hearing impairment, Microtia, Anotia OMIM:613717
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ... OMIM:612310
Hand-Foot-Genital Syndrome
Hypospadias, Recurrent urinary tract infections, Miscarriage, Vesicoureteral reflux, Bicornuate u... ORPHA:2438
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Hydrocephalus, Hydronephrosis, Spinal dysraphism,... ORPHA:1926
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Epispadias, Dandy-Walker malformation, Open operculum, Dilated... ORPHA:434179
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Frontonasal Dysplasia 1
Conductive hearing impairment, Low-set ears, Joint contracture of the hand OMIM:136760
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Paganini-Miozzo Syndrome
Urinary incontinence, Lateral ventricle dilatation OMIM:301025
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
Phaver Syndrome
Pterygium, Aplasia/Hypoplasia of the earlobes, Low-set ears, Conductive hearing impairment, Campt... ORPHA:2876
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment ORPHA:1861
Donnai-Barrow Syndrome
Umbilical hernia, Bicornuate uterus, Proteinuria, Abnormality of the uterus ORPHA:2143
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:3409
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Hypospadias, Polymicrogyria, Dilated fourth ventricle, Microce... OMIM:617751
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Renal agenesis, Hydrocolpos, Uterus didelphys, Abnormal uterine cervix mo... ORPHA:3411
Cach Syndrome
Globus pallidus hypointensity on susceptibility-weighted imaging, T2 hypointense thalamus, Cerebr... ORPHA:135
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Abnormality of the wrist, Aplasia/Hypoplasia of the earlobes, Stenosis of the external auditory c... ORPHA:2878
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly, Pachygyria, Lis... OMIM:618325
Microcephaly 3, Primary, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment OMIM:604804
Duplication Of Urethra
Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R... ORPHA:237
Mandibulofacial Dysostosis With Alopecia
Stenosis of the external auditory canal, Microtia, Low-set ears, Conductive hearing impairment, P... OMIM:616367
Adams-Oliver Syndrome 2
Cerebral atrophy, Hydrocephalus, Polymicrogyria, Microcephaly, Lateral ventricle dilatation OMIM:614219
Septooptic Dysplasia
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absent sept... OMIM:182230
Craniosynostosis And Dental Anomalies
Chronic otitis media, Lambdoidal craniosynostosis, Absent malleus, Prominent metopic ridge, Coron... OMIM:614188
Pontocerebellar Hypoplasia, Type 13
Microcephaly, Dandy-Walker malformation, Lateral ventricle dilatation, Hypoplasia of the corpus c... OMIM:618606
Wolf-Hirschhorn Syndrome
Hypospadias, Hydrocephalus, Aplasia of the uterus, Precocious puberty, Agenesis of corpus callosu... OMIM:194190
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Kbg Syndrome
Bilateral conductive hearing impairment, Persistent open anterior fontanelle, Macrotia, EEG abnor... ORPHA:2332
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Renal hypoplasia, Ab... ORPHA:2470
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Spina bifida occulta, Meningocele, Abnormality of the ureter, Umbilical hernia, Cryp... ORPHA:2311
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Hypoplasia of the corpus callosum, Deep white matter hypodensities, Abnormal co... ORPHA:565624
Hypertelorism, Microtia, Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:239800
Microphthalmia, Syndromic 9
Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal hypoplasia, Hydronephrosis, Neonatal deat... OMIM:601186
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Occipita... OMIM:276820
Pseudo-Torch Syndrome 2
Cerebral calcification, Polymicrogyria, Abnormal renal corticomedullary differentiation, Microcep... OMIM:617397
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Perisylvian polymicrogyria, Lateral... OMIM:618291
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:614833
Joubert Syndrome 10
Conductive hearing impairment, Low-set ears OMIM:300804
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Conductive hearing impairment ORPHA:93262
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Perrault Syndrome 4
Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico... OMIM:615300
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Testicular seminoma, Abnormal... OMIM:180860
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Proximal Symphalangism
Abnormality of the wrist, Tarsal synostosis, Sensorineural hearing impairment, Synostosis of carp... ORPHA:3250
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Progre... ORPHA:2524
Saethre-Chotzen Syndrome
Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna mo... ORPHA:794
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular leukomalacia, Thin corpus callosum, Hydrocephalus, Microcephaly, Colpocephaly, Ve... OMIM:619833
Trichorhinophalangeal Syndrome Type 2
Genu valgum, Low-set, posteriorly rotated ears, Joint dislocation, Conductive hearing impairment,... ORPHA:502
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Vesicoureteral reflux, Dilated fourth ventricle, Microcephaly, Lateral... ORPHA:3078
Burn-Mckeown Syndrome
Hearing impairment, Conductive hearing impairment, Protruding ear OMIM:608572
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Premature Ovarian Failure 10
Azoospermia, Hypoplasia of the ovary, Decreased testicular size, Elevated circulating follicle st... OMIM:612885
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
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat... ORPHA:3464
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
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Renal c... OMIM:617260
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Atresia of the external auditory canal, Conductive hearing impairment, Si... OMIM:602471
Deafness, Autosomal Dominant 58
Sensorineural hearing impairment, Tinnitus OMIM:615654
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Agenesis of corpus callosum ORPHA:2182
Lateral Meningocele Syndrome
Sensorineural hearing impairment, Low-set ears, Abnormality of the middle ear ossicles, Prominent... ORPHA:2789
Mullegama-Klein-Martinez Syndrome
Absent stapes, Sensorineural hearing impairment, Microtia, Low-set ears, Facial palsy, Atresia of... OMIM:301022
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, EEG abnormality ORPHA:3239
Oculoskeletodental Syndrome
Hearing impairment, Sensorineural hearing impairment, Conductive hearing impairment ORPHA:557003
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies OMIM:607485
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Urinary incontinence, Dilated third ventricle, Abnormal cerebral white matter m... ORPHA:314404
Bladder Exstrophy
Epispadias, Abnormal clitoris morphology, Hypoplasia of penis, Recurrent urinary tract infections... ORPHA:93930
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral atrophy, Death in childhood, Microcephaly, Lateral ventricle dilatation, Micropenis, Pri... OMIM:619847
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Abnormality of the kidney, Hypospadias, Azoospermia, Ur... ORPHA:1772
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Abnormal antihelix morphology,... ORPHA:3082
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal tract morphology, Lateral ventricle dilatation OMIM:256850
Pagod Syndrome
Renal hypoplasia/aplasia, Encephalocele, Meningocele, Abnormal testis morphology, Death in infanc... ORPHA:991
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Tetraamelia Syndrome 1
Hydrocephalus, Hypoplasia of the fallopian tube, Renal agenesis, Vaginal atresia, Urethral atresi... OMIM:273395
Kniest Dysplasia
Recurrent otitis media, Conductive hearing impairment, Hip contracture, Enlarged joints, Genu var... OMIM:156550
Intellectual Developmental Disorder, Autosomal Dominant 56
Secondary microcephaly, Thin corpus callosum, Lateral ventricle dilatation OMIM:617854
Even-Plus Syndrome
Dysplastic corpus callosum, Renal hypoplasia, Vesicoureteral reflux, Agenesis of corpus callosum OMIM:616854
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality of the ureter, Hydronephrosis, A... ORPHA:1834
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Reduced cerebral white matter volume, Parietal cortical atrophy, Thin corpus callosum, Lateral ve... OMIM:620075
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
Pallister-Hall Syndrome
Ectopic kidney, Hypothalamic hamartoma, Thyroid hypoplasia, Umbilical hernia, Small scrotum, Hydr... ORPHA:672
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Periventricular leukomalacia, Abnormal preputium morphology, Glandular hypospadias, Choroid plexu... ORPHA:293725
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Bresek Syndrome
Hydrocephalus, Vesicoureteral reflux, Hypoplasia of the bladder, Decreased testicular size, Renal... ORPHA:85284
46,Xy Ovotesticular Difference Of Sex Development
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... ORPHA:325345
Bardet-Biedl Syndrome
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... ORPHA:110
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... ORPHA:3027
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Horseshoe kidney OMIM:619318
Interstitial Cystitis
Abnormal labia morphology, Abnormal vagina morphology, Abnormality of the bladder, Pollakisuria, ... ORPHA:37202
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... OMIM:300068
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis... OMIM:236700
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Death in infancy, Microcephaly, Pachygyria, Agenesis of corpus callosum, Ven... ORPHA:452
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells... OMIM:228300
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Death in childhood, Death in infancy, Secondary microcephaly OMIM:619423
Halperin-Birk Syndrome
Ventriculomegaly, Death in childhood, Colpocephaly, Agenesis of corpus callosum OMIM:618651
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy... ORPHA:3378
X-Linked Mandibulofacial Dysostosis
Protruding ear, Sensorineural hearing impairment, Conductive hearing impairment, Low-set, posteri... ORPHA:1131
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Stickler Syndrome, Type I
Sensorineural hearing impairment, Arthropathy, Arthritis, Conductive hearing impairment, Osteoart... OMIM:108300
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating follicle stimulating hormone level, E... OMIM:619834
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Osteogenesis Imperfecta, Type Xvi
Hearing impairment, Conductive hearing impairment, Wormian bones OMIM:616229
Recessive Dystrophic Epidermolysis Bullosa Inversa
Vaginal stricture, Abnormality of the urinary system, Urethral stricture ORPHA:79409
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Interictal epileptiform activity, Ankle flexion contracture, Bilateral conductive hearing impairm... OMIM:617802
Meacham Syndrome
Hydrometrocolpos, Abnormal fallopian tube morphology, Abnormal vagina morphology, Hypoplasia of p... ORPHA:3097
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary OMIM:611548
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the upper urinary tr... ORPHA:2547
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Bicornuate uterus, Proteinuria, Vaginal atresia, Renal dysplasia OMIM:191830
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Hypospadias, Glandular hypospadias, Bifid scrotum, Bilateral cryptorch... OMIM:300219
Slc35A2-Cdg
Cerebral atrophy, Hypoplasia of the corpus callosum, Transient nephrotic syndrome, Dandy-Walker m... ORPHA:356961
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypsarrhythmia, Abnormal helix morphology, Abnormal cochlea morphology, Lo... ORPHA:798
Crouzon Syndrome
Optic atrophy, Lambdoidal craniosynostosis, Atresia of the external auditory canal, Conductive he... OMIM:123500
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot... OMIM:140000
Camptobrachydactyly
Septate vagina, Urinary incontinence OMIM:114150
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Johnson Neuroectodermal Syndrome
Microtia, Facial palsy, Atresia of the external auditory canal, Conductive hearing impairment, Pr... ORPHA:2316
Cleft Lip/Palate
Conductive hearing impairment, Recurrent otitis media ORPHA:199306
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f... OMIM:258040
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Renal hypoplasia, Lateral ventricle dilatation OMIM:618914
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Hydrocephalus, Chordee, Colpocephaly, Micropenis, A... OMIM:309801
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Exstrophy-Epispadias Complex
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... ORPHA:322
Agnathia-Otocephaly Complex
Synotia, Conductive hearing impairment, Low-set ears OMIM:202650
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Dystonia, Craniosynostosis, Chor... ORPHA:261197
Rhyns Syndrome
Sensorineural hearing impairment, Conductive hearing impairment OMIM:602152
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly OMIM:618010
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Hydronephrosis, Simp... OMIM:619179
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Spina bifida occulta, Labial hypoplasia,... OMIM:300707
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypoplasia of the corpus callosum, Secondary microcephaly, Colpocephaly, Agenesis of corpus callo... OMIM:620113
Fryns Microphthalmia Syndrome
Neural tube defect, Unicornuate uterus OMIM:600776
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Brachycephaly, Trichomegaly, And Developmental Delay
Conductive hearing impairment, Low-set ears, Overfolded helix OMIM:617412
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Hem... ORPHA:1855
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary OMIM:609993
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Cubitus valgus, Abnormality of the wrist, Otosclerosis, Microtia, Abnorma... ORPHA:529962
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Spina bifida occulta, Vesicoureteral reflux, Bifid uterus, Cro... OMIM:617466
Meacham Syndrome
Blind vagina, Stillbirth, Enlarged kidney, Death in childhood, Bicornuate uterus, Male pseudoherm... OMIM:608978
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular size, Hypergonadotropic h... ORPHA:66628
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Neonatal death, Micropenis OMIM:618810
Peutz-Jeghers Syndrome
Renal cell carcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cyst... ORPHA:2869
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urog... ORPHA:2473
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Hydrocephalus, Enuresis, Aplasia/hypoplasia of the uterus... ORPHA:96121
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Stenosis of the external au... OMIM:606164
Premature Ovarian Failure 21
Streak ovary, Elevated circulating follicle stimulating hormone level, Precocious puberty in females OMIM:620311
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular size, Hypergonadotropic h... ORPHA:179494
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Periventricular white matter hyperintensities, Secondary microcephaly OMIM:619737
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Clitoral hypoplasia, Elevated circulating follicle... OMIM:618419
Marshall-Smith Syndrome
Optic atrophy, Conductive hearing impairment, Craniosynostosis ORPHA:561
Ehlers-Danlos Syndrome, Classic-Like, 1
Vesicoureteral reflux, Unilateral renal agenesis, Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Prune Belly Syndrome
Hydroureter, Hydronephrosis, Congenital posterior urethral valve, Patent ductus arteriosus, Crypt... OMIM:100100
Isolated Cleft Lip
Chronic otitis media, Conductive hearing impairment, Abnormal Eustachian tube morphology ORPHA:199302
Carpenter Syndrome 1
Optic atrophy, Genu valgum, Lambdoidal craniosynostosis, Sensorineural hearing impairment, Abnorm... OMIM:201000
Perrault Syndrome 2
Streak ovary OMIM:614926
Glutaric Acidemia I
Hydrocephalus, Glutaric aciduria, Lateral ventricle dilatation, Ketonuria OMIM:231670
Premature Ovarian Failure 8
Streak ovary, Ovarian neoplasm, Elevated circulating luteinizing hormone level, Elevated circulat... OMIM:615723
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration ORPHA:95433
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Mixed hearing impairment, Fused cervical vertebrae, Sensorin... ORPHA:51608
Cloacal Exstrophy
Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Abnormal clitoris morphology, Hypoplasia o... ORPHA:93929
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Autosomal Recessive Spastic Paraplegia Type 11
Hypoplasia of the corpus callosum, Focal T2 hyperintense basal ganglia lesion, Frontal cortical a... ORPHA:2822
Otopalatodigital Syndrome, Type I
Limited elbow extension, Capitate-hamate fusion, Dislocated radial head, Synostosis of carpal bon... OMIM:311300
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis... ORPHA:2315
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sin... OMIM:618820
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A... ORPHA:2795
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Larsen Syndrome
Conductive hearing impairment, Accessory carpal bones, Craniosynostosis, Large joint dislocations ORPHA:503
19P13.12 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, Conductive hearing imp... ORPHA:254346
Acrootoocular Syndrome
Abnormal earlobe morphology, Sensorineural hearing impairment, Low-set ears, Atresia of the exter... ORPHA:2980
Mucolipidosis Type Iii Alpha/Beta
Sensorineural hearing impairment, Recurrent otitis media, Conductive hearing impairment ORPHA:423461
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia, Cryptorchidism, Multicystic kidney d... ORPHA:3301
ERI1-related disease
Limited elbow extension, Dislocated radial head, Low-set ears, Macrotia, Conductive hearing impai... OMIM:608739
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Polycystic ovaries, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:3085
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Pmm2-Cdg
Abnormal renal tubule morphology, Nephrotic syndrome, Decreased testicular size, Proteinuria, Mul... ORPHA:79318
Silver-Russell Syndrome
Hypospadias, Abnormal vagina morphology, Abnormal male external genitalia morphology, Decreased t... ORPHA:813
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries, Elevated circulating growth hor... ORPHA:90301
Cog5-Cdg
Urinary incontinence, Cerebral white matter atrophy, Neurogenic bladder, Microcephaly, Diffuse ce... ORPHA:263487
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:617877
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, S... ORPHA:99776
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Conductive hearing impairment ORPHA:2095
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem... ORPHA:2973
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... ORPHA:785
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangiectasis, Hydro... ORPHA:1655
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Craniosynostosis OMIM:241520
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Patent ductus arteriosus, Shawl scrotum, Cryptorchidism, Micro... OMIM:617516
Diamond-Blackfan Anemia 10
Microtia, Low-set ears, Hearing impairment, Atresia of the external auditory canal, Conductive he... OMIM:613309
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Cranial nerve compression, Conductive hearing impairment, Paroxysmal vertigo, Pulsatile t... ORPHA:276621
Björnstad Syndrome
Sensorineural hearing impairment ORPHA:123
Mandibulofacial Dysostosis, Guion-Almeida Type
Microtia, Low-set ears, Atresia of the external auditory canal, Conductive hearing impairment, Ov... OMIM:610536
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Cerebral calcification, Dandy-Walker malformation, Mic... OMIM:617281
Radio-Tartaglia Syndrome
Tremor, Low-set ears, Hearing impairment, Conductive hearing impairment, Large earlobe OMIM:619312
Vacterl/Vater Association
Occipital encephalocele, Ectopic kidney, Hypospadias, Hypoplasia of penis, Anencephaly, Bifid scr... ORPHA:887
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Secondary microcephaly, Dandy-Walker malformation, Thick cerebral cor... ORPHA:357058
Omodysplasia 2
Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidism, Micropenis OMIM:164745
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Bicornuate uterus, Renal agenesis, Renal hypoplasia, Holoprosenceph... OMIM:264480
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Probst bundles, Lateral ventricle dilatation OMIM:612863
Kapur-Toriello Syndrome
Camptodactyly of finger, Conductive hearing impairment, Low-set ears, Joint contracture of the hand OMIM:244300
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Abnormal periventricular white matter morphology, Dilated fourth ventricle, Cer... ORPHA:572798
Congenital Disorder Of Glycosylation, Type Iit
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:618885
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:300952
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Profound sensorineural hearing impairment, Absent internal auditory canal, Hypoplasia of the cochlea OMIM:620469
Lateral Meningocele Syndrome
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Posteriorly ... OMIM:130720
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Recurrent otitis media, Genu valgum, Conductive hearing impairment, Genu ... OMIM:250420
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Pachygyria, Hypoplasia of penis ORPHA:2328
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed cranial suture closure, Low-set ears, Facial palsy, Conductive hearing impairment, Poster... ORPHA:2780
Arthrogryposis Multiplex Congenita 6
Death in childhood, Hypospadias, Neonatal death, Death in infancy OMIM:619334
Distal Deletion 19P
Sensorineural hearing impairment, Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:96129
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Reduced circulating prolactin concentration, Anterior hypopituitarism, Hypopla... ORPHA:2235
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Proteinuria, Chronic kidney disease, Polycystic o... ORPHA:275555
Congenital Disorder Of Glycosylation, Type Iig
Stenosis of the external auditory canal, Microtia, Low-set ears, Conductive hearing impairment, P... OMIM:611209
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Conductive hearing impairment OMIM:244400
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly ORPHA:261250
Robinow Syndrome, Autosomal Dominant 2
Hearing impairment, Sensorineural hearing impairment, Mixed hearing impairment, Conductive hearin... OMIM:616331
Primary Ciliary Dyskinesia
Chronic otitis media, Conductive hearing impairment, Hearing impairment, Recurrent otitis media ORPHA:244
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment OMIM:126550
Camptobrachydactyly
Septate vagina ORPHA:1319
Postaxial Acrofacial Dysostosis
Low-set ears, Congenital hip dislocation, Conductive hearing impairment, Radioulnar synostosis, C... OMIM:263750
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Renal malrotation, Hypoplasia of the uterus OMIM:615866
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment, Enlarged joints, Premature osteoarthr... OMIM:215150
Alagille Syndrome
Renal hypoplasia/aplasia, Spina bifida occulta, Abnormality of the ureter, Nephrotic syndrome, Cr... ORPHA:52
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:609441
Frontometaphyseal Dysplasia
Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Fused cervical ver... ORPHA:1826
Hennekam-Beemer Syndrome
Optic atrophy, Microtia, Delayed cranial suture closure, Hearing impairment, Conductive hearing i... ORPHA:2135
Dextrocardia
Hydrocephalus, Abnormal renal morphology, Pancreatic hypoplasia, Abnormality of the ureter, Abnor... ORPHA:1666
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Abnormality of the ureter, ... OMIM:175200
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Umbilical hernia, Spina bifida... ORPHA:261318
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Currarino Syndrome
Urinary incontinence, Rectovaginal fistula, Recurrent urinary tract infections, Neurogenic bladde... OMIM:176450
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Microtia, Atresia of the external auditory canal, Conductive he... OMIM:601390
Retinitis Pigmentosa
Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Optic disc pallor ORPHA:791
Noonan Syndrome 9
Cryptorchidism, Hydroureter OMIM:616559
Warburg-Cinotti Syndrome
Ankle flexion contracture, Elbow flexion contracture, Low-set ears, Wrist flexion contracture, At... OMIM:618175
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Facial palsy OMIM:123000
Rabin-Pappas Syndrome
Sensorineural hearing impairment, Optic nerve hypoplasia, Conductive hearing impairment OMIM:620155
Craniometaphyseal Dysplasia, Autosomal Recessive
Optic atrophy, Mixed hearing impairment, Facial palsy OMIM:218400
Hereditary Mucoepithelial Dysplasia
Abnormality of the bladder, Hematuria, Abnormal morphology of female internal genitalia ORPHA:1839
Ulnar-Mammary Syndrome
Breast aplasia, Hypoplasia of penis, Hypoplastic nipples, Renal hypoplasia, Abnormality of the ut... ORPHA:3138
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Hypospadias, Patent ductus arteriosus, Hydrocephalus,... OMIM:261540
Smith-Magenis Syndrome
Chronic otitis media, Conductive hearing impairment, EEG abnormality ORPHA:819
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Unilateral renal agenesis, Hypospadias, Ventriculomegaly, Micropenis,... ORPHA:363444
Sotos Syndrome
Genu valgum, Low-set ears, Macrotia, Conductive hearing impairment, Posteriorly rotated ears, Oti... OMIM:117550
Van Maldergem Syndrome 2
Hip subluxation, Sensorineural hearing impairment, Microtia, Stenosis of the external auditory ca... OMIM:615546
Waardenburg Syndrome
Hearing impairment, Conductive hearing impairment, Aganglionic megacolon ORPHA:3440
Apert Syndrome
Optic atrophy, Sensorineural hearing impairment, Cervical C5/C6 vertebrae fusion, Conductive hear... ORPHA:87
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Renal hypoplasia/aplasia, Abnormality of the uterus ORPHA:1788
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Hearing abnormality, Multiple pterygia, Pterygium, Low-s... ORPHA:2990
Chromosome 18Q Deletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Stenosis of the external auditory canal, Tremor,... OMIM:601808
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Shawl scrotum, Cr... ORPHA:261265
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Hypospadias, Horseshoe kidney, Vesicoureteral reflux, Microcephaly, F... OMIM:619103
Giant Cell Arteritis
Optic atrophy, Vertigo, Arthritis, Hearing impairment, Conductive hearing impairment ORPHA:397
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Hypospadias, Vesicoureteral reflux, Hypoplastic anterior commi... OMIM:616975
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Bicornuate uterus OMIM:263210
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypoplasia of the corpus callosum, Hypospadias, Small pituitary gland, Lateral ventricle dilatati... OMIM:619479
Bladder Exstrophy And Epispadias Complex
Epispadias, Bifid clitoris, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe ... OMIM:600057
Aicardi-Goutieres Syndrome 9
Cerebral atrophy, Glomerular sclerosis, Renal insufficiency, Cerebral calcification, Diffuse leuk... OMIM:619487
Toriello-Lacassie-Droste Syndrome
Epispadias, Hypospadias, Abnormality of the bladder, Abnormality of the ureter, Agenesis of corpu... ORPHA:3339
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst, Renal cyst OMIM:617100
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Antecubital pterygium, Recurrent otitis media, Genu varum ORPHA:2502
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Death in childhood, Lateral ventricle dilatation, Death in infancy OMIM:612301
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment OMIM:620012
Achondroplasia
Limited elbow extension, Conductive hearing impairment, Recurrent otitis media, Genu varum OMIM:100800
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Low-set, posteriorly rotated ears ORPHA:1297
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Abnormal cerebral white matter morphology, Lateral ventricle... ORPHA:457279
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Hematuria, Abnormal vagina morphology ORPHA:1334
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Death in infancy, Umbilical hernia, Megacystis, Cryptorchidism, Multicystic kidney d... ORPHA:2241
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary ORPHA:314478
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Cranial nerve compression, Conductive hearing impairment, Paroxysmal vertigo, Pulsatile t... ORPHA:29072
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Microcephaly, Renal hypoplasia, Hydronep... OMIM:618460
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Incre... ORPHA:90795
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Abnormal vestibular function OMIM:606943
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Micropenis ORPHA:335
Multiple Pterygium Syndrome, Escobar Variant
Popliteal pterygium, Axillary pterygium, Fused cervical vertebrae, Exostosis of the external audi... OMIM:265000
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Pituitary go... ORPHA:91348
Neurocardiofaciodigital Syndrome
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Vesicoureteral reflux, Dilated fourth... OMIM:619869
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Hypogonadism, Abnormality of the ureter ORPHA:3253
Hydatidiform Mole
Miscarriage, Enlarged uterus ORPHA:99927
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Low-set ears, Mixed hearing impairment, Thickened helices, Overfolded helix OMIM:608624
Donnai-Barrow Syndrome
Bicornuate uterus, Non-acidotic proximal tubulopathy, Proteinuria, Agenesis of corpus callosum, U... OMIM:222448
Ellis Van Creveld Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:289
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Rhombencephalosynapsis
Hydrocephalus, Abnormal renal morphology, Abnormality of the uterus ORPHA:59315
Mosaic Trisomy 1
Renal cortical cysts, Polymicrogyria, Renal cyst, Agenesis of corpus callosum, Lateral ventricle ... ORPHA:1692
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu valgum, Dislocated radial head, Genu recurvatum, Abnormal pinna morphology, Low-set ears, Co... OMIM:182212
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Conductive hearing impairment, Posteriorly rotated ears, Prominent metop... ORPHA:2215
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Sensorineural hearing impairment, Low-set ears, Optic disc coloboma, Lo... OMIM:300472
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Hydrocephalus, Decreased testicular size, Renal hypoplasia, Micropenis OMIM:619321
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hypospadias, Microcephaly, Renal h... ORPHA:314679
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Ovarian cyst, Long penis OMIM:246200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Polymicrogyria, Polycystic kidney dysplasia, Death in adolescence, Renal cyst, Death... OMIM:614866
Codas Syndrome
Genu valgum, Sensorineural hearing impairment, Delayed ossification of carpal bones, Congenital h... OMIM:600373
Fixed Drug Eruption
Vaginal mucosal ulceration ORPHA:293812
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th... OMIM:610706
Immunodeficiency 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:615816
Larsen Syndrome
Multiple carpal ossification centers, Hearing impairment, Conductive hearing impairment, Vertebra... OMIM:150250
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Transverse vaginal septum, Semilobar holoprosencephaly, Decreased response to growth hormone stim... OMIM:129900
Cardiospondylocarpofacial Syndrome
Recurrent otitis media, Tarsal synostosis, Fused cervical vertebrae, Low-set ears, Fusion of midd... OMIM:157800
Wolfram Syndrome 1
Neurogenic bladder, Hydronephrosis, Hydroureter, Testicular atrophy OMIM:222300
Mucolipidosis Type Ii
Sensorineural hearing impairment, Limited wrist movement, Prominent metopic ridge, Conductive hea... ORPHA:576
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Papillary cystadenoma of the ep... OMIM:193300
Shprintzen-Goldberg Syndrome
Genu valgum, Low-set ears, Conductive hearing impairment, Camptodactyly of finger, Posteriorly ro... ORPHA:2462
Frontorhiny
Congenital conductive hearing impairment, Camptodactyly of finger, Low-set, posteriorly rotated ears ORPHA:391474
Hunter-Macdonald Syndrome
Cubitus valgus, Sensorineural hearing impairment, Delayed cranial suture closure, Conductive hear... OMIM:611962
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter ORPHA:1035
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment OMIM:602080
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Transverse vaginal septum, Decreased response to growth hormone stimulation test, Absence of Sten... OMIM:604292
Brittle Cornea Syndrome
Sensorineural hearing impairment, Conductive hearing impairment ORPHA:90354
Orofaciodigital Syndrome Ii
Wormian bones, Conductive hearing impairment OMIM:252100
Gorham-Stout Disease
Hearing impairment, Abnormality of the internal auditory canal ORPHA:73
6Q Terminal Deletion Syndrome
Hypoplasia of the corpus callosum, Hypospadias, Polymicrogyria, Phimosis, Colpocephaly, Abnormal ... ORPHA:75857
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Hypospadias, Cerebral white matter hypoplasia, Chordee, Colpoc... ORPHA:477993
2Q37 Microdeletion Syndrome
Conductive hearing impairment ORPHA:1001
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Microcephaly, Colpocephaly, Congenital posterior urethral valve, Penile hypospadias,... OMIM:620083
Distal Deletion 10Q
Acute kidney injury, Cavum septum pellucidum, Vesicoureteral reflux, Enuresis, Microcephaly, Func... ORPHA:96148
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abnormal male externa... ORPHA:95699
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Agenesis of corpus callosu... ORPHA:2059
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Sensorineural hearing impairment, Low-set ears, Coronal craniosynostosis, Conductive hearing impa... OMIM:235510
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Occipital encephalocele, External genital hypoplasia, Large placenta, ... OMIM:249000
Baller-Gerold Syndrome
Conductive hearing impairment, Abnormal carpal morphology, Aplasia/Hypoplasia of the patella ORPHA:1225
Fraser Syndrome 3
Stillbirth, Small scrotum, Hypoplasia of penis, Hydrocephalus, Bilateral renal agenesis, Ureteral... OMIM:617667
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Death in infancy, Colpocephaly, Small scrotum, Septate vagina, Hypospadias, Hydroc... OMIM:270400
Fanconi Anemia
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnormal preputium morphology, Azoospermia, A... ORPHA:84
Mucopolysaccharidosis Type 3
Chronic otitis media, Optic atrophy, Mixed hearing impairment, Genu valgum, Sensorineural hearing... ORPHA:581
Meier-Gorlin Syndrome 6
Stenosis of the external auditory canal, Microtia, Conductive hearing impairment, Patellar aplasi... OMIM:616835
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Ectopic kidney, Labial hypoplasia, Vesicoureteral reflux, Bicornuate uterus... ORPHA:140952
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hypoplasia of the uterus, Anterior h... ORPHA:709
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Holoprosencephaly 13, X-Linked
Microcephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus callosum OMIM:301043
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Aplasia of the bladder, Bicornuate uterus, Absent nipple, Unicornuat... OMIM:200980
Gabriele-De Vries Syndrome
Cortical dysplasia, Hydronephrosis, Lateral ventricle dilatation, Ureteropelvic junction obstruction OMIM:617557
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Bangstad Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology ORPHA:1227
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Agenesis of corpus callosum, Hypoplasia of the c... OMIM:614924
Alg9-Cdg
Enlarged kidney, Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus, Abnormal renal ... ORPHA:79328
Hydrolethalus Syndrome 1
Stillbirth, Adrenal gland dysgenesis, Hypospadias, Anencephaly, Abnormal vagina morphology, Bifid... OMIM:236680
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Microtia, Neonatal death OMIM:619817
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Optic disc pallor ORPHA:309288
Cystic Echinococcosis
Membranous nephropathy, Abnormality of the testis size, Renal cyst, Ovarian cyst ORPHA:400
Den Hoed-De Boer-Voisin Syndrome
Secondary microcephaly, Death in adolescence, Microcephaly, Lateral ventricle dilatation, Ventric... OMIM:619229
Oculodentodigital Dysplasia
Optic atrophy, Madelung deformity, Abnormal pinna morphology, Hearing impairment, Conductive hear... ORPHA:2710
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Abnormal renal morphology, Fused labia minora, Vaginal atresia, Hypoplastic labia ... OMIM:207410
3Mc Syndrome 1
Lambdoidal craniosynostosis, Hearing impairment, Conductive hearing impairment, Coronal craniosyn... OMIM:257920
Hypoplasminogenemia
Abnormal fallopian tube morphology, Hydrocephalus, Nephrolithiasis, Cervicitis, Abnormality of th... ORPHA:722
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Low-set ears, Cupped ear OMIM:615560
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Synotia, Abnormal cranial nerve morphology, Low-set, posteriorly rotated ears, Narrow internal au... ORPHA:990
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum OMIM:618569
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Dislocated radial head, Sensorineural hearing impairment, Abnormal pinn... OMIM:617137
Pgm3-Cdg
Chronic otitis media, Sensorineural hearing impairment, Conductive hearing impairment, Mild neuro... ORPHA:443811
Kyphoscoliotic Ehlers-Danlos Syndrome
Sensorineural hearing impairment, Shoulder dislocation, Low-set ears, Congenital hip dislocation,... ORPHA:536545
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microtia OMIM:603467
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Hip osteoarthritis, Sensorineural hearing imp... ORPHA:580
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypoplasia of the corpus callosum, Stillbirth, Abnormal cortical gyration, Death in childhood, Hy... OMIM:210710
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Patent ductus arteriosus, Communicating hydrocephalus... OMIM:618188
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Neonatal death, Absent gallbladder, Septate vagina, Micropenis OMIM:617925
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Cr... OMIM:605627
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Arthritis, Camptodactyly of finger... ORPHA:217085
Cornelia De Lange Syndrome 1
Limited elbow extension, Optic atrophy, Dislocated radial head, Sensorineural hearing impairment,... OMIM:122470
Opitz Gbbb Syndrome
Hypospadias, Patent ductus arteriosus, Vesicoureteral reflux, Bifid scrotum, Bicornuate uterus, H... ORPHA:2745
Oculodentodigital Dysplasia
Cubitus valgus, Joint contracture of the 5th finger, Abnormal pinna morphology, Conductive hearin... OMIM:164200
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Tremor, Low-set, posteriorly rotated ears ORPHA:2754
Bardet-Biedl Syndrome 1
Abnormality of the kidney, Abnormality of the ovary, Decreased testicular size, Vaginal atresia, ... OMIM:209900
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Congenital bilateral hip dislocation, Bilateral conductive hearing impairment, Hearing impairment... ORPHA:488642
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Hypothalamic ... OMIM:146510
Acro-Renal-Ocular Syndrome
Aganglionic megacolon, Sensorineural hearing impairment, Conductive hearing impairment, Optic dis... ORPHA:959
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Arthritis, Camptodactyly of finger... ORPHA:217093
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618367
Bainbridge-Ropers Syndrome
Microcephaly, Death in infancy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:615485
Diphallia
Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Ectopic sc... ORPHA:227
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Microtia, Conductive hearing impairment, Low-set ears OMIM:618500
Townes-Brocks Syndrome
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal vagina morp... ORPHA:857
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Bicornuate uterus, Hydrocele testis OMIM:145420
Cardiac-Valvular Ehlers-Danlos Syndrome
Genu valgum, Joint dislocation, Genu recurvatum, Recurrent shoulder dislocation, Severe conductiv... ORPHA:230851
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Dysuria, Renal insufficiency, Abnormality of the urethra ORPHA:537
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Fraser Syndrome
Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hypoplasia of penis, Abnormal vagina morpho... ORPHA:2052
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Sensorineural hearing impairment, Mixed hearing impairment, Conductive hearing impairment, Overfo... OMIM:300990
Phosphoribosylpyrophosphate Synthetase Superactivity
Death in childhood, Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, Cr... OMIM:300661
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Rectovaginal fistula, Renal duplication OMIM:270420
Mccune-Albright Syndrome
Renal phosphate wasting, Abnormal testis morphology, Precocious puberty, Hyperphosphaturia, Ovari... ORPHA:562
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Posteriorly rotated ears, Abnorm... ORPHA:466943
Kabuki Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Macrotia, Protruding ear, EEG ab... ORPHA:2322
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Lateral ventricle dilatation, Duplication of renal pelvis, Primary microcep... ORPHA:261552
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Secondary microcephaly, Hypoplasia of the corpus callosum, Vesicoureteral reflux, Death in infanc... OMIM:300868
Orofaciodigital Syndrome Type 4
Joint dislocation, Microtia, third degree, Low-set ears, Conductive hearing impairment, Camptodac... ORPHA:2753
Monosomy 18Q
Sensorineural hearing impairment, Bilateral conductive hearing impairment, Macrotia, Choreoathetosis ORPHA:1600
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Meckel Syndrome
Ureteral duplication, Anencephaly, Encephalocele, Hydrocephalus, Pancreatic fibrosis, Pancreatic ... ORPHA:564
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Mixed hearing impairment, Hip subluxation, Low-set, posteriorly rotated ears, Cervical C2/C3 vert... ORPHA:444077
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... ORPHA:572333
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Hajdu-Cheney Syndrome
Genu valgum, Dislocated radial head, Wormian bones, Low-set ears, Conductive hearing impairment, ... OMIM:102500
Weaver Syndrome
Ventriculomegaly, Absent septum pellucidum, Lateral ventricle dilatation OMIM:277590
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Hypospadias, Supernumerary nipple, Patent ductus arteriosus, Micropenis OMIM:106260
Fryns Syndrome
Stillbirth, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, Rena... OMIM:229850
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal female external genitalia morphology, Renal hypoplasia/aplasia, Vaginal fistula, Persist... ORPHA:1112
Osteopathia Striata With Cranial Sclerosis
Microtia, Low-set ears, Facial palsy, Conductive hearing impairment, Posteriorly rotated ears, De... OMIM:300373
Cerebrocostomandibular Syndrome
Atresia of the external auditory canal, Conductive hearing impairment ORPHA:1393
Congenital Myopathy 13
Conductive hearing impairment, Low-set ears OMIM:255995
Bosma Arhinia Microphthalmia Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Abnormal pinna morphology,... OMIM:603457
Cowden Syndrome
Abnormality of the kidney, Adenoma sebaceum, Abnormal penis morphology, Renal cell carcinoma, Enl... ORPHA:201
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Neoplasm of the pancreas, Adrenal pheochromocytoma, Pancrea... ORPHA:892
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Trisomy 8P
Abnormal middle ear morphology, Aplasia/Hypoplasia of the tragus, Conductive hearing impairment, ... ORPHA:264450
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Micropenis, Lateral ventricle dilatation, Polycystic kidney dysplasia OMIM:263520
Orofaciodigital Syndrome Vi
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears OMIM:277170
Feingold Syndrome Type 1
Sensorineural hearing impairment, Conductive hearing impairment ORPHA:391641
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Bilateral conductive hearing impairment, Low-set ears, Facial... OMIM:620186
Intellectual Developmental Disorder, Autosomal Dominant 73
Limited elbow extension, Axillary pterygium, Recurrent otitis media, Microtia, Low-set ears, Ante... OMIM:620450
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Conductive hearing impairment, Macrotia, Calcification of the auricular cartilage, Hip contracture ORPHA:3042
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Aganglionic megacolon, Low-set ears, Atresia of the external auditory ca... OMIM:154400
Acrofrontofacionasal Dysostosis 1
Acetabular dysplasia, Mixed hearing impairment, Optic atrophy OMIM:201180
Apert Syndrome
Hydrocephalus, Hydronephrosis, Agenesis of corpus callosum, Vaginal atresia, Cryptorchidism OMIM:101200
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Mixed hearing impairment, Tarsal synostosis, Sensorineural hearing impai... OMIM:272460
Native American Myopathy
Conductive hearing impairment ORPHA:168572
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Horseshoe kidney, Vaginal atresia, Patent ductus arteriosus OMIM:617088
Leukocyte Adhesion Deficiency Type Ii
Small earlobe, Microtia, Recurrent otitis media, Conductive hearing impairment ORPHA:99843
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Hydrocephalus, Vesicoureteral reflux, Bif... OMIM:107480
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:306542
Pycnodysostosis
Delayed cranial suture closure, Persistent open anterior fontanelle, Coronal craniosynostosis, Wo... ORPHA:763
Congenital Disorder Of Glycosylation, Type Iim
Cerebral atrophy, Hypoplasia of the corpus callosum, Vesicovaginal fistula, Microcephaly, Uretero... OMIM:300896
Hennekam Syndrome
Abnormal pinna morphology, Low-set ears, Camptodactyly of finger, Conductive hearing impairment, ... ORPHA:2136
Chand Syndrome
Imperforate hymen, Hydroureter ORPHA:1401
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasia of the th... OMIM:617666
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Sensorineural hearing impairment, Metopic synostosis, Optic nerve hy... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Sensorineural hearing impairment, Metopic synostosis, Optic nerve hy... ORPHA:352665
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Protruding ear, Conductive hearing impairment ORPHA:1071
Keppen-Lubinsky Syndrome
Microcephaly, Lateral ventricle dilatation OMIM:614098
Cowden Syndrome 6
Varicocele, Ovarian cyst, Goiter, Hydrocele testis OMIM:615109
Treacher-Collins Syndrome
Microtia, Abnormality of the middle ear, Blepharospasm, Conductive hearing impairment, Narrow int... ORPHA:861
Fraser Syndrome 1
Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hydrocephalus, Bicorn... OMIM:219000
Cockayne Syndrome Type 3
Adult onset sensorineural hearing impairment, Intention tremor, Macrotia, Conductive hearing impa... ORPHA:90324
Cowden Syndrome 5
Goiter, Ovarian cyst, Hydrocele testis OMIM:615108
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Lenz-Majewski Hyperostotic Dwarfism
Dysplastic corpus callosum, Hypospadias, Anterior pituitary hypoplasia, Microcephaly, Cerebral co... OMIM:151050
Down Syndrome
Conductive hearing impairment, Aganglionic megacolon, Round ear ORPHA:870
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cerebral co... ORPHA:177907
Cerebrocostomandibular Syndrome
Elbow flexion contracture, Low-set ears, Congenital hip dislocation, Conductive hearing impairmen... OMIM:117650
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Patent ductus arteriosus, Pelvic kidney, Imperforate hymen, Gr... OMIM:619522
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Treacher Collins Syndrome 1
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:154500
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornuate uterus, Urete... OMIM:269150
Cowden Syndrome 1
Varicocele, Ovarian cyst, Goiter, Ovarian carcinoma, Hydrocele testis OMIM:158350
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Small placenta, Hydranencephaly, Spina bifida, Renal agenesis, ... OMIM:256520
Orofaciodigital Syndrome I
Hydrocephalus, Polycystic kidney dysplasia, Hypothalamic hamartoma, Myelomeningocele, Ovarian cys... OMIM:311200
15Q Overgrowth Syndrome
Mixed hearing impairment, Low-set, posteriorly rotated ears, Low-set ears, Posteriorly rotated ea... ORPHA:314585
Baller-Gerold Syndrome
Optic atrophy, Limited elbow movement, Mixed hearing impairment, Lambdoidal craniosynostosis, Pat... OMIM:218600
Genitopatellar Syndrome
Thin corpus callosum, Multicystic kidney dysplasia, Microcephaly, Hydronephrosis, Colpocephaly, P... OMIM:606170
Schwartz-Jampel Syndrome
Nephrolithiasis, Abnormality of the ureter, Decreased testicular size, Death in infancy, Umbilica... ORPHA:800
Down Syndrome
Conductive hearing impairment, Microtia, Aganglionic megacolon, Shallow acetabular fossae OMIM:190685
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Microtia, Bilateral sensorineural hearing impairment, Atresi... ORPHA:2306
Branchiooculofacial Syndrome
Sensorineural hearing impairment, Microtia, Elbow flexion contracture, Low-set ears, Hypoplastic ... OMIM:113620
Faundes-Banka Syndrome
Long ear, Microtia, Low-set ears, Conductive hearing impairment, Cupped ear OMIM:619376
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cholelithiasis, Meningocele, Hydrocephalus, Polycystic kidney dy... ORPHA:567
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Hydrocephalus, Abnormal morphology of female internal genitalia, Multi... ORPHA:538
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Marshall-Smith Syndrome
Optic nerve hypoplasia, Bilateral conductive hearing impairment, Low-set ears, Hearing impairment... OMIM:602535
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Nephrocalcinosis, Hydronephrosis, Congenital post... OMIM:136140
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Pseudoaminopterin Syndrome
Talipes valgus, Limited elbow movement, Hip subluxation, Low-set, posteriorly rotated ears, Absen... ORPHA:221120
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Cryptorchidism, Renal agenesis, Varicocele,... ORPHA:2044
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Conductive hearing impairmen... OMIM:280000
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, ... ORPHA:2363
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Multiple joint dislocation, Torticollis, Large joint dislocations, Low-... ORPHA:536467
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Renal hypoplasia/aplasia, Bicornuate uterus ORPHA:958
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Mixed hearing impairment, Optic nerve hypoplasia ORPHA:79345
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Ovarian cyst, Enlarged polycy... ORPHA:64739
Beckwith-Wiedemann Syndrome
Abnormal earlobe morphology, Otosclerosis, Prominent metopic ridge, Hearing impairment, Posterior... ORPHA:116
Campomelic Dysplasia
Patellar hypoplasia, Dislocated radial head, Low-set ears, Hearing impairment, Conductive hearing... 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
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Isch... ORPHA:500150
Alpha-Mannosidosis, Infantile Form
Talipes valgus, Mixed hearing impairment, Genu valgum, Sensorineural hearing impairment, Otitis m... ORPHA:309282
Bartsocas-Papas Syndrome 1
Ectopic kidney, Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus,... OMIM:263650
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Lateral ventricle dilatation, Renal insufficiency, P... OMIM:181270
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Uterus didelphys, Renal hypoplasia, Urethrovaginal fistula, Hydr... ORPHA:93271
Microphthalmia, Syndromic 2
Hypospadias, Umbilical hernia, Patent ductus arteriosus, Septate vagina, Cryptorchidism OMIM:300166
Turnpenny-Fry Syndrome
Torticollis, Microtia, Low-set ears, Conductive hearing impairment, Satyr ear OMIM:618371
Ulnar-Mammary Syndrome
Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate hymen, Bicornu... OMIM:181450
1P36 Deletion Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Del... ORPHA:1606
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Macrotia, Conductive hearing impairment, Cranial nerve compression ORPHA:2785
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Sensorineural hearing impairment, Conductive hearing impairment, Otitis media, Patellar dislocati... ORPHA:353281
White-Kernohan Syndrome
Dysplastic corpus callosum, Hydronephrosis, Hydroureter, Horseshoe kidney OMIM:619426
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Distal Deletion 12Q
Prominent ear helix, Microtia, Bilateral conductive hearing impairment, Low-set ears, Elbow flexi... ORPHA:96149
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Nephrolithiasis, Umbilical hernia, Polycystic ovaries, Labial hypertrophy OMIM:608594
Chromosome 1P36 Deletion Syndrome, Distal
Optic atrophy, Hypsarrhythmia, Sensorineural hearing impairment, Microtia, Low-set ears, Hearing ... OMIM:607872
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Patent ductus arteriosus, Am... ORPHA:30
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Enlarged kidney, Enuresis nocturna, Latera... OMIM:615873
Zttk Syndrome
Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Poly... OMIM:617140
Microsporidiosis
Urethritis, Prostatitis, Abnormal fallopian tube morphology, Abnormal endometrium morphology, Nep... ORPHA:2552
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Secondary microcephaly, Abnormal lateral ventricle morphology, Hypospadias, Abnormal corpus callo... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Secondary microcephaly, Abnormal lateral ventricle morphology, Hypospadias, Abnormal corpus callo... ORPHA:353277
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Low-set ears, Posteriorly rotated ears, Prot... OMIM:259775
Leprechaunism
Enlarged kidney, Clitoral hypertrophy, Long penis, Hypercalciuria, Enlarged ovaries, Nephrocalcin... ORPHA:508
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Hypoplasti... ORPHA:199
Orofaciodigital Syndrome Type 2
Protruding ear, Conductive hearing impairment ORPHA:2751
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Death in childhood, Hypospadias, Rectovaginal fistula, Hypoplastic nipples,... OMIM:243800
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Nephrolithiasis, Umbilical hernia, Polycystic ovaries, Labial hypertrophy OMIM:269700
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma ORPHA:454840
Hutchinson-Gilford Progeria Syndrome
Prominent ear helix, Limited wrist movement, Limitation of movement at ankles, Conductive hearing... ORPHA:740
Kabuki Syndrome 1
Hydrocephalus, Microcephaly, Hydronephrosis, Ureteropelvic junction obstruction, Crossed fused re... OMIM:147920
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Hydroureter, Hypospadias, Dilatation of the bladder, Bicornuate uterus, Hydrone... OMIM:265380
Fontaine Progeroid Syndrome
Low-set ears, Coronal craniosynostosis, Conductive hearing impairment, Posteriorly rotated ears, ... OMIM:612289
Okamoto Syndrome
Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Bifid uterus, Unilatera... ORPHA:2729
Degcags Syndrome
Unilateral conductive hearing impairment, Genu valgum, Sensorineural hearing impairment, Low-set ... OMIM:619488
Choreoacanthocytosis
Abnormal putamen morphology, Frontal cortical atrophy, Cerebral cortical atrophy, Small basal gan... ORPHA:2388
Roberts-Sc Phocomelia Syndrome
Stillbirth, Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Hydrocephalus, ... OMIM:268300
Chronic Graft Versus Host Disease
Phimosis, Hematuria, Urinary bladder inflammation, Abnormal vagina morphology ORPHA:99921
Otopalatodigital Syndrome, Type Ii
Low-set ears, Congenital hip dislocation, Conductive hearing impairment, Posteriorly rotated ears... OMIM:304120
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Increased circulating pr... ORPHA:1359
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261537
Trichorhinophalangeal Syndrome, Type Ii
Hydrometrocolpos, Vesicoureteral reflux, Bilateral cryptorchidism OMIM:150230
Primary Sjögren Syndrome
Abnormality of the kidney, Vaginal dryness, Parotitis, Renal insufficiency, Tubulointerstitial ne... ORPHA:289390
Adams-Oliver Syndrome 1
Imperforate hymen, Encephalocele, Supernumerary nipple OMIM:100300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst OMIM:300967
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Patent ductus arteriosus, Hypoplasia of the thymus, Hy... OMIM:188400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Renal tubular epithelial necrosis, Vaginal stricture, Hematuria, Vaginal dry... ORPHA:95455
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Craniofacial Microsomia 1
Genu valgum, Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Atresia of the ex... OMIM:164210
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Mowat-Wilson Syndrome
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Paten... ORPHA:2152
Sotos Syndrome
Chronic otitis media, Ankle flexion contracture, Aganglionic megacolon, Bilateral camptodactyly, ... ORPHA:821
Neurooculorenal Syndrome
Sensorineural hearing impairment, Mixed hearing impairment OMIM:620305
Branchioskeletogenital Syndrome
Large earlobe, Attached earlobe, Mixed hearing impairment, Craniosynostosis ORPHA:1299
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontotemporal cerebral atrophy, Aqueductal stenosis, Hydrocephalus, Anterior pituitary hypoplasi... OMIM:619534
Robinow Syndrome
Low-set ears, Mixed hearing impairment, Posteriorly rotated ears, Fused thoracic vertebrae ORPHA:97360
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse, Bladder diverticulum, Umbilical hernia ORPHA:287
Loeys-Dietz Syndrome
Uterine rupture, Patent ductus arteriosus 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, Genu valgum, Dislocated radial head, Progressive hearing impairment, He... ORPHA:666
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Decreased response to growth hormo... OMIM:613406
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ... ORPHA:286
Norrie Disease
Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morp... ORPHA:649
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Small pituitary... OMIM:619503
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Facial palsy,... OMIM:214800
Focal Dermal Hypoplasia
Optic atrophy, Mixed hearing impairment, Stenosis of the external auditory canal, Low-set ears, C... OMIM:305600
Congenital Tracheal Stenosis
Abnormality of the kidney, Patent ductus arteriosus, Abnormality of the ureter ORPHA:141127
Lacrimoauriculodentodigital Syndrome 1
Hearing impairment, Mixed hearing impairment, Microtia, Cupped ear 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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