Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Spermatogenic Failure 5 |
|
Male infertility, Functional abnormality of male internal genitalia |
OMIM:243060 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Bilateral sensorineural hearing impairment, Male infertility, Reduced s... |
OMIM:611102 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment, Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Deafness-Infertility Syndrome |
|
Azoospermia, Sensorineural hearing impairment, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility |
OMIM:619672 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... |
OMIM:619095 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 48 |
|
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619108 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm |
OMIM:619102 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... |
OMIM:618664 |
Spermatogenic Failure, X-Linked, 3 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... |
OMIM:619515 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619528 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... |
ORPHA:529970 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... |
OMIM:619712 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... |
OMIM:618745 |
Spermatogenic Failure 64 |
|
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility |
OMIM:619696 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... |
OMIM:618643 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... |
OMIM:619379 |
Spermatogenic Failure 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Oligospermia |
ORPHA:1646 |
Spermatogenic Failure 18 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:618153 |
Spermatogenic Failure 20 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:618341 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Azoospermia, Infertility |
OMIM:617706 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Male infertility, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Male infertility, Testicular atrophy |
OMIM:309120 |
Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... |
OMIM:618433 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity |
OMIM:601382 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Asherman Syndrome |
|
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... |
ORPHA:137686 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Premature Ovarian Failure 6 |
|
Primary amenorrhea, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, St... |
OMIM:612310 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Isochromosomy Yq |
|
Azoospermia, Male infertility |
ORPHA:98798 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Male infertility, Testicular atrophy |
ORPHA:276183 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... |
ORPHA:320401 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity |
OMIM:601455 |
Ring Chromosome Y Syndrome |
|
Azoospermia, Abnormal spermatogenesis, Male hypogonadism, Male infertility, Female infertility, S... |
ORPHA:261529 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Sensorineural hearing impairment, Premature ovarian insufficiency |
OMIM:619518 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... |
OMIM:601596 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility |
ORPHA:3000 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility |
OMIM:617091 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... |
ORPHA:1215 |
Mohr-Tranebjaerg Syndrome |
|
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... |
ORPHA:52368 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Cupped ear, Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:110100 |
Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:201050 |
Ciliary Dyskinesia, Primary, 18 |
|
Immotile sperm, Male infertility |
OMIM:614874 |
Primary Ciliary Dyskinesia |
|
Conductive hearing impairment, Abnormal sperm motility, Male infertility, Female infertility, Hea... |
ORPHA:244 |
Adult Krabbe Disease |
|
Erectile dysfunction, EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Male infertility, Prema... |
ORPHA:79239 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... |
ORPHA:99027 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor |
OMIM:619260 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:613807 |
Aromatase Deficiency |
|
Female infertility, Hypergonadotropic hypogonadism, Primary amenorrhea, Male infertility |
ORPHA:91 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Cockayne Syndrome Type 1 |
|
Hearing impairment, Male hypogonadism, Macrotia, Absent brainstem auditory responses, Optic atrop... |
ORPHA:90321 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... |
ORPHA:101085 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Low-set ears, Secondary amenorrhea, Female infertility, Premature ovarian in... |
ORPHA:572333 |
47,Xyy Syndrome |
|
Azoospermia, Oligospermia, Male infertility, Low-set ears |
ORPHA:8 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... |
OMIM:609136 |
Androgen Insensitivity Syndrome |
|
Male infertility |
ORPHA:754 |
Trisomy 10P |
|
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... |
ORPHA:171929 |
Cockayne Syndrome A |
|
Irregular menstruation, Sensorineural hearing impairment, Decreased nerve conduction velocity, Ab... |
OMIM:216400 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Optic neuropathy, Decreased nerve conduction velo... |
ORPHA:909 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Male infertility |
OMIM:244400 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Complete Androgen Insensitivity Syndrome |
|
Primary amenorrhea, Male infertility |
ORPHA:99429 |
Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Decreased n... |
OMIM:133540 |
Partial Androgen Insensitivity Syndrome |
|
Azoospermia, Male sexual dysfunction, Primary amenorrhea, Male infertility |
ORPHA:90797 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Primary amenorrhea, Male hypogonadism, Male infertility, Decreased fertility |
ORPHA:90793 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Male infertility, Hearing impairment |
OMIM:227650 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism |
ORPHA:85450 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Primary amenorrhea, Low-set ears, External ear malformation, Secondary amenorrhea, Female inferti... |
ORPHA:99413 |
Turner Syndrome |
|
Primary amenorrhea, Low-set ears, External ear malformation, Secondary amenorrhea, Female inferti... |
ORPHA:881 |
Mosaic Monosomy X |
|
Primary amenorrhea, Low-set ears, External ear malformation, Secondary amenorrhea, Female inferti... |
ORPHA:99228 |
Monosomy X |
|
Primary amenorrhea, Low-set ears, External ear malformation, Secondary amenorrhea, Female inferti... |
ORPHA:99226 |
46,Xy Partial Gonadal Dysgenesis |
|
Decreased fertility in females, Primary amenorrhea, Azoospermia, Male infertility, Hypergonadotro... |
ORPHA:251510 |
Bloom Syndrome |
|
Azoospermia, Oligospermia, Premature ovarian insufficiency, Male infertility |
ORPHA:125 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Chordee, Azoospermia, Low-set, posteriorly rotated ears, Male infertility, Streak ovary, Hearing ... |
ORPHA:1772 |
Noonan Syndrome 1 |
|
Low-set ears, Hearing impairment, Sensorineural hearing impairment, Male infertility, Hypogonadism |
OMIM:163950 |
Cystinosis, Nephropathic |
|
Male hypogonadism, Male infertility |
OMIM:219800 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |