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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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, Agenesis of corpus callosum, Schizencephaly 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, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Lissencephaly 4
Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephaly, Agenesis of corpus c... OMIM:614019
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Conductive hearing impairment, Proximal symphalangism of han... OMIM:185800
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction OMIM:600060
Deafness, Autosomal Dominant 11
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Polymicrogyria, Hypoplasia of the corpus callosum, Par... OMIM:604213
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment, Joint contracture of the hand OMIM:224800
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Congenital stapes ankylosis, Stapes ankylosis, Fused cervical vert... OMIM:184460
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Vestibular dysfunction OMIM:600974
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... ORPHA:500166
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Leydig Cell Hypoplasia
Increased circulating gonadotropin level, Cryptorchidism, Abnormal external genitalia, Abnormal v... ORPHA:755
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Sensorineural hearing impairment, Hand tremor OMIM:300905
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Androgen Insensitivity, Partial
Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogonadism, Azoospe... OMIM:312300
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
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, Abnormality of the anterior commissure, Agen... 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 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Colpocephaly, Pachygyria OMIM:614870
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:250972
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction OMIM:607821
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Uteru... OMIM:146255
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria, Ventriculomegaly ORPHA:171703
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis, Aplasia/Hypoplasia of th... OMIM:158330
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia ORPHA:101071
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... ORPHA:93111
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Congenital Hydrocephalus
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly... ORPHA:2185
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Sensorineural hearing impairment, Hearing impairment OMIM:310490
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Renal agenesis, Aplasia/hypoplasia of the uterus, Renal dysplasia, Ectopic kid... ORPHA:2578
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Band Heterotopia
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Central Neurocytoma
Cerebral calcification, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Abnormal renal morphology ORPHA:48
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:99429
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Polymicrog... ORPHA:300573
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Tenosynovial Giant Cell Tumor
Joint swelling, Conductive hearing impairment, Chondrocalcinosis, Abnormality of the auditory can... ORPHA:66627
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Dilated third ventricle, Corpus callosum atr... OMIM:619244
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Lissencephaly, Fronto... OMIM:610031
Craniodiaphyseal Dysplasia
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy ORPHA:1513
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Ventr... OMIM:608716
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormality of the kidney, Hypoplasia of the vagina, Horseshoe kidney,... ORPHA:3109
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... ORPHA:90793
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:168558
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Lissencephaly 3
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Lissencephaly, Ventricul... OMIM:611603
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:289548
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... OMIM:617805
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... ORPHA:261529
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Steel Syndrome
Sensorineural hearing impairment, Dislocated radial head OMIM:615155
Lissencephaly, X-Linked, 1
Micropenis, Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus callosum OMIM:300067
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Radioulnar synostosis ORPHA:71289
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Death in infancy ORPHA:85334
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... OMIM:614837
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear OMIM:615706
Leopard Syndrome 1
Hypoplasia of the ovary, Micropenis, Unilateral renal agenesis, Hypospadias, Spina bifida occulta... OMIM:151100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Increased circulating gonadotropin level, Small pituitary gland, Streak ovary, Hypergonadotropic ... ORPHA:2232
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplasia of the bladder,... OMIM:614527
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal ce... ORPHA:101029
Bowen Syndrome Of Multiple Malformations
Hypospadias, Death in childhood, Agenesis of corpus callosum OMIM:211200
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Aplasia of the ovary, Elevated circulating follic... OMIM:614324
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media OMIM:221320
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abnormal pinna morphology, Con... OMIM:214300
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Microcephaly, Unilateral renal hypoplasia, Vesicoureter... OMIM:619955
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankles, Bilateral conductive hearing impairment, Abnormalit... ORPHA:2010
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal dysplasia,... ORPHA:2237
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Sensorineural hearing impairment, Hearing impairment, Profound sensorineural hearing impairment, ... OMIM:619196
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment OMIM:610738
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens OMIM:277180
Meckel Syndrome 14
Holoprosencephaly, Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus, Occip... OMIM:619879
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism of the 5th finger, Conductive hearing impairment, Symphalangism of the 4th finger, ... ORPHA:3246
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... OMIM:618500
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy OMIM:617296
Achondroplasia
Conductive hearing impairment, Genu varum, Limited elbow extension, Recurrent otitis media OMIM:100800
Treacher Collins Syndrome 3
Conductive hearing impairment, Abnormality of the outer ear, Microtia OMIM:248390
Otosclerosis 10
Otosclerosis OMIM:615589
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst, Ureterovesical stenosis, Death in infancy OMIM:268650
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... ORPHA:100084
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Abnormality of the kidney, Horseshoe kidney, Axial malrotation of the kidney ORPHA:3320
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... ORPHA:3236
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Nephropathy, Abnormality o... OMIM:194072
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... OMIM:271520
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
Cleft Velum
Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... ORPHA:79326
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Agenesis ... ORPHA:457284
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Microtia, Conductive hearing impairment, Joint contracture of the 5th finger OMIM:248910
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dil... ORPHA:544488
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Unilateral re... OMIM:137920
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... ORPHA:1435
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment, Congenital hip dislocation OMIM:133705
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Genu valgum OMIM:132450
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Multiple Synostoses Syndrome 1
Dislocated radial head, Carpal synostosis, Stapes ankylosis, Proximal/middle symphalangism of 4th... OMIM:186500
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Unilateral renal agenesis, Microcephaly, Ventriculomegaly, Pachy... ORPHA:2512
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal basal ganglia morphology, Renal cortical cysts, Hypospadias, Open operculum, Dilated thi... ORPHA:397715
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis, Meningocele ORPHA:2879
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Renal agenesis, Ectopic k... OMIM:601076
Frasier Syndrome
Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S... ORPHA:347
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... ORPHA:52429
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Male urethral meatus stenosis, Cavum septum pellucidum, Hypospadias, Microcepha... ORPHA:464738
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventri... ORPHA:262767
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Tremor, Conductive hearing impairment OMIM:619473
Microcephaly 17, Primary, Autosomal Recessive
Microcephaly, Ventriculomegaly, Simplified gyral pattern, Microlissencephaly, Agenesis of corpus ... OMIM:617090
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia OMIM:300946
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callo... ORPHA:255182
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia OMIM:251800
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Large basa... ORPHA:300570
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly, Corpus callosum atrophy ORPHA:77299
Caudal Duplication
Myelomeningocele, Renal hypoplasia/aplasia, Abnormal penis morphology, Uterus didelphys, Ureteral... ORPHA:1756
Adenomyosis
Adenomyosis OMIM:600458
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Fanconi Anemia, Complementation Group L
Hydrocephalus, Micropenis, Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus OMIM:614083
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Miscarriage... ORPHA:90794
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Hypoplastic nipples, Breast aplasia, Aplasia of the u... ORPHA:69085
Masa Syndrome
Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Cerebral atrophy, Agenesis of corpus callosum, Death in infancy OMIM:600329
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Sensorineural hearing impairment, Craniosynostosis ORPHA:2866
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In... OMIM:612290
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... ORPHA:79113
Abruzzo-Erickson Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Macrotia, Radioulnar synostosis ORPHA:921
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified gyral pattern, Colpocephaly OMIM:615219
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Conductive hearing impairment,... OMIM:118100
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Tremor, Decreased nerve conduction velocity, Adult onset sensor... ORPHA:1368
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Chronic kidney disease, Nephrotic syndrome, Dyspl... ORPHA:488627
Prune Belly Syndrome
Urogenital sinus anomaly, Cryptorchidism, Abnormality of the ureter, Hydroureter, Multicystic kid... ORPHA:2970
Ramon Syndrome
Sensorineural hearing impairment, Conductive hearing impairment ORPHA:3019
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Horseshoe kidney, Patent ductus arteriosus, Axial malrotation of the kidney... OMIM:274000
Gaba-Transaminase Deficiency
Death in childhood, Agenesis of corpus callosum OMIM:613163
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Cerebral atrophy, Basal ganglia cysts, Periventricular leukomalacia, Basa... ORPHA:79243
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... ORPHA:284339
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment OMIM:608653
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Hemifacial Microsomia With Radial Defects
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:141400
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Protruding ear, Joint contracture of the 5th finger OMIM:602249
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Waardenburg Syndrome, Type 1
Myelomeningocele, Aplasia of the vagina, Spina bifida OMIM:193500
Dysmyelination With Jaundice
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis OMIM:224250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Low-set ears OMIM:616910
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Abnormal periventricular white matter morphology, Dilated third ventricle OMIM:619725
16P13.2 Microdeletion Syndrome
Hydrocephalus, Micropenis, Microcephaly, Dilated third ventricle, Hypoplasia of the corpus callos... ORPHA:500055
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia ORPHA:2213
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Hydronephrosis, Ventriculomegaly OMIM:617127
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, male, Elevated circulating follicle stimulating ho... ORPHA:90796
Otofaciocervical Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Atresia of the exte... ORPHA:2792
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus OMIM:304100
Pallister-Killian Syndrome
Labial hypoplasia, Supernumerary nipple, Hypospadias, Renal dysplasia, Renal cyst, Aplasia of the... OMIM:601803
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy ORPHA:791
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment ORPHA:3145
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Abnormal audit... OMIM:201050
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus, Death in infancy OMIM:258320
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Hypoplasia of the ovary, Micropenis OMIM:618841
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:110
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Low-set ears, Radioulnar synostosis OMIM:614701
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment, Wormian bones OMIM:166220
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Myopathy, Congenital, Bailey-Bloch
Conductive hearing impairment, Low-set ears OMIM:255995
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618619
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Cardiac-Urogenital Syndrome
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Enlarged kidney, Ambiguous genitalia, Penos... OMIM:618280
Siddiqi Syndrome
Sensorineural hearing impairment, Limb dystonia OMIM:618635
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, Penoscrotal h... ORPHA:456328
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Synostosis of carpal bones ORPHA:3238
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment OMIM:600193
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis ORPHA:1046
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Renal hypoplasia/aplasia, Patent ductus arteriosus, Renal insufficiency ORPHA:2123
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... OMIM:612964
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... ORPHA:432
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media OMIM:618063
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Cupped ear, Camptodactyly... ORPHA:246
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Increased circulating gonadotropin level, Gonadal dysgenesis, S... ORPHA:243
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Colpocephaly, Mi... OMIM:609053
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract hypoplasia, Age... OMIM:307000
Crouzon Syndrome
Conductive hearing impairment, Optic atrophy, Multiple suture craniosynostosis, Narrow internal a... ORPHA:207
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Abnormal caudate nucleus morphology, Hypoplasia of the corpus callosum, Cerebral white matter atr... ORPHA:2148
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Mixed hearing impairment ORPHA:2698
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... OMIM:609166
Penoscrotal Transposition
Abnormal external genitalia, Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality ... ORPHA:2842
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Polycystic ... OMIM:608709
Combined Oxidative Phosphorylation Deficiency 2
Mild fetal ventriculomegaly, Agenesis of corpus callosum, Neonatal death OMIM:610498
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Vestibular dysfunction OMIM:276902
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Microtia, Dilatated internal aud... OMIM:113650
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum OMIM:252650
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Lissencephaly, Primary microceph... ORPHA:284417
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Neonatal death, Agyria, Lissencephaly, Death in infancy, Agenesis of corpus callosum OMIM:616342
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619466
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Aicardi Syndrome
Cavum septum pellucidum, Choroid plexus cyst, Microcephaly, Dilated third ventricle, Polymicrogyr... OMIM:304050
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Progressive cervical vertebral s... OMIM:135100
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Fanconi Anemia, Complementation Group O
Miscarriage, External genital hypoplasia, Neonatal death, Renal cyst, Death in infancy, Hydroneph... OMIM:613390
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Larsen-Like Syndrome
Conductive hearing impairment, Low-set ears, Joint dislocation, Recurrent otitis media OMIM:608545
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears, Optic atrophy OMIM:618672
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor ORPHA:66633
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Joint contracture of the hand, Stenosis of the external auditory c... OMIM:608257
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Coffin-Siris Syndrome 1
Hypospadias, Hydroureter, Spina bifida occulta, Partial agenesis of the corpus callosum, Renal hy... OMIM:135900
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Gonadal dysgenesis, Umbilical hernia, Polycy... ORPHA:1770
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Aminoaciduria, Death in childhood, Microcephaly, Renal hypoplasia, 3-... OMIM:604273
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment, Wormian bones OMIM:166200
Zechi-Ceide Syndrome
Conductive hearing impairment, Abnormal helix morphology, Microtia, Stenosis of the external audi... ORPHA:217017
Autosomal Dominant Non-Syndromic Intellectual Disability
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Lateral v... ORPHA:178469
Lumbar Syndrome
Myelomeningocele, Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Renal agenesis, Renal dup... ORPHA:83628
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:619665
Otofaciocervical Syndrome 1
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea OMIM:166780
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Conductive hearing impairment, Atresia of the external auditory canal, Hi... OMIM:602471
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Ureteral duplication, Arrhinencephaly, Ambiguous genit... ORPHA:3027
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum ORPHA:238722
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the ankles, Low-s... ORPHA:1307
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, Renal cyst, External genital hypoplasia OMIM:605231
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:614924
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Orofaciodigital Syndrome Type 14
Open operculum, Microcephaly, Dilated third ventricle, Dilated fourth ventricle, Hypoplasia of th... ORPHA:434179
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Arrhinencephaly, Lissencephaly, Septo-optic dysplasia, Agenesis of c... ORPHA:1528
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Severe X-Linked Intellectual Disability, Gustavson Type
Microcephaly, Dilated fourth ventricle, Lateral ventricle dilatation, Vesicoureteral reflux, Dand... ORPHA:3078
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Spina bifida oc... OMIM:119500
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microcephaly, Polymicrogyria, Lissencephaly, Agenesis of corpus callosum OMIM:614833
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:420179
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Camptodactyly of finger, Low-set, p... ORPHA:1488
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia OMIM:616042
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Diabetic Embryopathy
Hydrocephalus, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Abnormal morphology of... ORPHA:1926
Frontonasal Dysplasia 1
Conductive hearing impairment, Low-set ears, Joint contracture of the hand OMIM:136760
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Later... ORPHA:565624
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Abnormality of the ureter, Hypoplasia of penis, Hypogonadism ORPHA:3409
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Sensorineural hearing impairment, Po... ORPHA:52368
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Microcephaly, Hypoplasia of the corpus cal... OMIM:617260
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Conductive hearing impairment, Microtia, Stenosis of the external auditory canal, Abnormality of ... ORPHA:2878
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal preputium morphology, Choroid plexus cyst, Glandular hypospadias, Abnormal caudate nucle... ORPHA:293725
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment ORPHA:1861
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Microcephaly, Ventriculomegaly, Thin corpus callosum, Periventricula... OMIM:619833
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... ORPHA:3130
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo... OMIM:616900
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Microcephaly, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Dand... OMIM:225790
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:612310
Charcot-Marie-Tooth Disease, Type 4K
Sensorineural hearing impairment, Hearing impairment, Dystonia OMIM:616684
Non-Functioning Paraganglioma
Conductive hearing impairment, Pulsatile tinnitus, Cranial nerve compression, Paroxysmal vertigo,... ORPHA:94080
Coffin-Siris Syndrome 6
Conductive hearing impairment, Low-set, posteriorly rotated ears, Wormian bones OMIM:617808
Meckel Syndrome 12
Ureteral hypoplasia, Renal agenesis, Renal hypoplasia, Vaginal atresia, Agenesis of corpus callosum OMIM:616258
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:619203
Kennerknecht syndrome
Renal agenesis, Agonadism, Hypoplasia of the uterus OMIM:600908
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tract hypoplasia, Periven... ORPHA:255138
Microcephaly 3, Primary, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment OMIM:604804
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus, Proteinuria, Umbilical hernia ORPHA:2143
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Renal agenesis, Uterus didelphys, Abnormal uterine cervix morphology, Partial vaginal septum, Hyd... ORPHA:3411
Phaver Syndrome
Conductive hearing impairment, Overfolded helix, Camptodactyly of finger, Radioulnar synostosis, ... ORPHA:2876
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Microcephaly, Diffuse white matter abnormalities, Hypoplasia of the... ORPHA:208447
Hand-Foot-Genital Syndrome
Miscarriage, Bicornuate uterus, Hypospadias, Abnormality of the urethra, Recurrent urinary tract ... ORPHA:2438
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Pendred Syndrome
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... ORPHA:705
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Low-set ears, Posteriorly rotated ears OMIM:277170
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Conductive hearing impairment, Coronal craniosynostosis, Papilledema, Prominent... OMIM:614188
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Horseshoe kidney... ORPHA:2470
Interstitial Cystitis
Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the urethra, Nocturia, Urin... ORPHA:37202
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... OMIM:241080
Proximal Symphalangism
Sensorineural hearing impairment, Elbow ankylosis, Camptodactyly of finger, Synostosis of carpal ... ORPHA:3250
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Microtia, Stenosis of the external auditory canal,... OMIM:616367
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Anterior pitu... OMIM:182230
Kbg Syndrome
EEG abnormality, Bilateral conductive hearing impairment, Macrotia, Persistent open anterior font... ORPHA:2332
Halperin-Birk Syndrome
Death in childhood, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Hypertelorism, Microtia, Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:239800
Wolf-Hirschhorn Syndrome
Hydrocephalus, Precocious puberty, Hypospadias, Aplasia of the uterus, Cryptorchidism, Agenesis o... OMIM:194190
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormality of the ureter, Spina bifida occulta, Abnormal morphology of female inter... ORPHA:2311
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia ... OMIM:276820
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Anterior vertebral fusion, Microtia, Stenosis of the external audi... OMIM:171480
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Conductive hearing impairment ORPHA:93262
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormal cerebral white matter morphology, Dilated third ventricle, Cerebral atrophy, Urinary inc... ORPHA:314404
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum, Renal agenesis OMIM:192050
Trichorhinophalangeal Syndrome Type 2
Conductive hearing impairment, Protruding ear, Joint dislocation, Low-set, posteriorly rotated ea... ORPHA:502
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Duplication Of Urethra
Uterus didelphys, Clitoral hypertrophy, Rectourethral fistula, Bladder duplication, Chordee, Dist... ORPHA:237
Slc35A2-Cdg
Transient nephrotic syndrome, Cerebral atrophy, Microcephaly, Cortical dysplasia, Hypoplasia of t... ORPHA:356961
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, EEG abnormality ORPHA:3239
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... OMIM:615300
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Micropenis, Stre... ORPHA:3464
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, B... ORPHA:794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Anencephaly, Cortical dysplasia, Type II lissencephaly, Renal cyst, Ve... OMIM:615287
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Burn-Mckeown Syndrome
Conductive hearing impairment, Hearing impairment, Protruding ear OMIM:608572
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Decreased testicular siz... OMIM:612885
Bresek Syndrome
Hydrocephalus, Hypoplasia of the bladder, Neonatal death, Renal dysplasia, Renal hypoplasia, Decr... ORPHA:85284
Bladder Exstrophy
Abnormality of the clitoris, Hypoplasia of penis, Abnormality of the ureter, Recurrent urinary tr... ORPHA:93930
Pallister-Hall Syndrome
Hypothalamic hamartoma, Ambiguous genitalia, Thyroid hypoplasia, Umbilical hernia, Small scrotum,... ORPHA:672
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Horseshoe kidney OMIM:619318
Lateral Meningocele Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2789
Spondyloenchondrodysplasia
Chronic kidney disease, Decreased response to growth hormone stimulation test, Cerebral calcifica... ORPHA:1855
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2182
Craniotelencephalic Dysplasia
Lissencephaly, Agenesis of corpus callosum, Arrhinencephaly, Absent septum pellucidum OMIM:218670
Pagod Syndrome
Renal hypoplasia/aplasia, Agonadism, Multicystic kidney dysplasia, Abnormal morphology of female ... ORPHA:991
Cach Syndrome
Dysgyria, Cerebral atrophy, Microcephaly, T2 hypointense thalamus, Lateral ventricle dilatation, ... ORPHA:135
Tetraamelia Syndrome 1
Hydrocephalus, Urethral atresia, Absent external genitalia, Renal agenesis, Hypoplasia of the fal... OMIM:273395
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Abnormal antitragus morphology, Apl... ORPHA:3082
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Renal hypoplasia, Horseshoe kidney, Patent ductus ar... OMIM:601186
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary sy... ORPHA:1834
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Abnormality of the ureter, Ne... OMIM:180860
Oculocerebrodental Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hearing impairment ORPHA:557003
Combined Oxidative Phosphorylation Deficiency 53
Death in childhood, Dysplastic corpus callosum, Secondary microcephaly, Death in infancy OMIM:619423
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Abnormal intern... ORPHA:1772
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment OMIM:605594
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Focal T2 ... ORPHA:2822
Preeclampsia