| 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 |
|
