Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... |
OMIM:604213 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly... |
OMIM:607432 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype |
OMIM:305700 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Pachygyria, Gray matte... |
OMIM:611603 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Cerebellar vermis atrophy |
OMIM:618185 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Abnormal cerebellum morphology, Simplified gyral pattern, Abnormal neuron morphology |
ORPHA:329228 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Perive... |
OMIM:618677 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Microlissencephaly |
|
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Hypoplasia of the brai... |
ORPHA:352682 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Cerebellar hypoplasia |
OMIM:618572 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Partial agenesis of the corpus callosum,... |
OMIM:610031 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Pachygyria, Molar tooth sign on MRI |
OMIM:614173 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus ... |
OMIM:614019 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... |
OMIM:615191 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:171703 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morpho... |
ORPHA:300573 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... |
ORPHA:945 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... |
OMIM:615771 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadochokinesis, Hypopla... |
OMIM:224050 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Hypoplasia o... |
OMIM:618273 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Abnormality of neuronal migration |
OMIM:618709 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... |
OMIM:264600 |
Intellectual Developmental Disorder, X-Linked 92 |
|
Decreased testicular size |
OMIM:300851 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ... |
OMIM:613153 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ... |
OMIM:616171 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel... |
OMIM:615181 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callo... |
OMIM:616212 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Gray matter heterotopia, Molar tooth sign on MRI, Superior cerebellar dysplas... |
OMIM:617622 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Gray matter heterotopia, Pachygyria, Cerebellar cyst |
ORPHA:370980 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Cerebellar dyspl... |
OMIM:616531 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopat... |
OMIM:207950 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Hemimegalencephaly |
|
Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Cerebellar hypoplasia, Hypoplasia of the brainstem, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Simplified gyral pattern, Gliosis, Cerebellar hemisphere hypoplasia, Agenesis... |
OMIM:615095 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon... |
ORPHA:370959 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Abnormal cortical gyration, Olivopontocerebellar hypoplasia... |
ORPHA:98756 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... |
ORPHA:89844 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus ca... |
ORPHA:1528 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:612370 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development... |
OMIM:610628 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia |
OMIM:218670 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Frontal polymicrogyria, Hypoplasia of the pons, Perisylvian polymicrogyria, Dysmetria, Hypoplasia... |
OMIM:606854 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Periventricular Nodular Heterotopia 1 |
|
Cerebellar hypoplasia, Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Pachygyr... |
ORPHA:255138 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Gliosis, Abnormality of neuronal mi... |
OMIM:300957 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... |
ORPHA:101030 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Symmetrical Thalamic Calcifications |
|
Ataxia, Abnormality of neuronal migration |
ORPHA:1314 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian) |
|
Perisylvian polymicrogyria |
OMIM:615752 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... |
OMIM:618841 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis |
OMIM:618832 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malform... |
OMIM:164180 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Partial agenesis of th... |
OMIM:614643 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ... |
ORPHA:101070 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2772 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hypoplasia of the ce... |
ORPHA:2481 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... |
ORPHA:899 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, A... |
ORPHA:370022 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Glutathionuria |
|
Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum |
OMIM:231950 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra... |
ORPHA:2318 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
Myotonic Dystrophy 1 |
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Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Joubert Syndrome |
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Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra... |
ORPHA:475 |
Alkuraya-Kucinskas Syndrome |
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Hydrocephalus, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hy... |
OMIM:617822 |
3-Hydroxyisobutyric Aciduria |
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Abnormality of neuronal migration |
OMIM:236795 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Ataxia, Abnormality of neuronal migration, Cerebellar vermis atrophy, Abnormal neuron morphology |
ORPHA:163681 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2518 |
Pseudo-Torch Syndrome 2 |
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Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Cerebellar hypoplasia |
OMIM:617397 |
Lhermitte-Duclos Disease |
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Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia |
ORPHA:65285 |
Vici Syndrome |
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Hypoplasia of the pons, Gray matter heterotopia, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:1493 |
Holoprosencephaly 14 |
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Cerebellar atrophy, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, P... |
OMIM:619895 |
46,Xy Partial Gonadal Dysgenesis |
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Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Familial Infantile Myoclonic Epilepsy |
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Cerebellar atrophy, Periventricular nodular heterotopia, Ataxia |
ORPHA:352582 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Hypopla... |
OMIM:613150 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Cerebellar vermis hypoplasia, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polym... |
ORPHA:157 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Ataxia, Periventricular heterotopia, Hydrocephalus, Chiari type I malformation, Cerebellar hypopl... |
OMIM:618476 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Type II liss... |
OMIM:615287 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Abnormality of neuronal migration |
ORPHA:2204 |
Brain Small Vessel Disease 2 |
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Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Congenital Disorder Of Deglycosylation 2 |
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Cerebellar vermis hypoplasia, Gray matter heterotopia, Partial agenesis of the corpus callosum, P... |
OMIM:619775 |
Wolfram Syndrome 1 |
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Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
Neu-Laxova Syndrome |
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Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... |
ORPHA:2671 |
Thanatophoric Dysplasia Type 2 |
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Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:93274 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Joubert Syndrome With Hepatic Defect |
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Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neur... |
ORPHA:1454 |
Edinburgh Malformation Syndrome |
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Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
Periventricular Nodular Heterotopia 7 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia |
OMIM:617201 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cerebellar vermis hypoplasia, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polym... |
ORPHA:228308 |
6Q Terminal Deletion Syndrome |
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Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... |
ORPHA:75857 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
3C Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of neuronal migration, Dandy-Wal... |
ORPHA:7 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... |
OMIM:615219 |
Man1B1-Cdg |
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Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:397941 |
Cerebrofacioarticular Syndrome |
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Cerebellar vermis hypoplasia, Ataxia, Dysplastic corpus callosum, Gray matter heterotopia, Agenes... |
ORPHA:314679 |
Bilateral Perisylvian Polymicrogyria |
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Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu... |
ORPHA:98889 |
Desmosterolosis |
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Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... |
ORPHA:35107 |
Hypomelanosis Of Ito |
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Gray matter heterotopia |
OMIM:300337 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Arima Syndrome |
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Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Br... |
OMIM:243910 |
Tetrasomy 18P |
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Abnormality of neuronal migration |
ORPHA:3307 |
Aprosencephaly And Cerebellar Dysgenesis |
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Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Hypoplasia of the pons, Olivopontoce... |
ORPHA:468631 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Gray matter heterotopia |
OMIM:619694 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
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Gray matter heterotopia |
OMIM:617008 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... |
ORPHA:2211 |
Thanatophoric Dysplasia |
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Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
Neonatal Adrenoleukodystrophy |
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Abnormality of neuronal migration |
ORPHA:44 |
Orofaciodigital Syndrome Xvi |
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Molar tooth sign on MRI, Gray matter heterotopia, Ataxia |
OMIM:617563 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Galloway-Mowat Syndrome |
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Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
Orofaciodigital Syndrome Type 6 |
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Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration |
ORPHA:2754 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Hydrocephalus, Ataxia, Colpocephaly, Periventricular heterotopia |
OMIM:619833 |
Aicardi Syndrome |
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Cerebellar vermis hypoplasia, Spina bifida, Partial agenesis of the corpus callosum, Gray matter ... |
OMIM:304050 |
Acromelic Frontonasal Dysostosis |
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Encephalocele, Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia... |
OMIM:603671 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Periventricular heterotopia |
OMIM:618974 |
Genitourinary And/Or Brain Malformation Syndrome |
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Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chiari malformation, Holoprose... |
OMIM:618820 |
Coffin-Lowry Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:192 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Lateral ventricle dilatation, Periventricular heterotopia |
OMIM:614105 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Gray matter heterotopia, Frontal polymicrogyria, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:620024 |
Radio-Tartaglia Syndrome |
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Gray matter heterotopia, Agenesis of corpus callosum, Ataxia |
OMIM:619312 |
Ritscher-Schinzel Syndrome 3 |
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Periventricular nodular heterotopia, Cerebellar vermis hypoplasia |
OMIM:619135 |
Bohring-Opitz Syndrome |
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Gray matter heterotopia, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dandy-Walker m... |
OMIM:605039 |
16P13.11 Microdeletion Syndrome |
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Holoprosencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration |
ORPHA:261236 |
Holoprosencephaly |
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Encephalocele, Hydrocephalus, Chorea, Abnormality of neuronal migration, Spinal dysraphism, Holop... |
ORPHA:2162 |
Fragile X Syndrome |
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Periventricular heterotopia |
OMIM:300624 |
Orofaciodigital Syndrome Vi |
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Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Occipital meningocele, Periventricular nod... |
OMIM:277170 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Partial agene... |
OMIM:615948 |
Thanatophoric Dysplasia, Type I |
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Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
Orofaciodigital Syndrome I |
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Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Agenesis of... |
OMIM:311200 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration |
OMIM:608836 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Gray matter heterotopia, Gliosis |
ORPHA:26791 |
Periventricular Nodular Heterotopia |
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Periventricular heterotopia |
ORPHA:98892 |
Thanatophoric Dysplasia Type 1 |
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Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
Alg11-Cdg |
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Gray matter heterotopia, Ataxia |
ORPHA:280071 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormality of neuronal migration |
ORPHA:2063 |
Van Maldergem Syndrome 1 |
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Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618929 |
Vici Syndrome |
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Gray matter heterotopia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:242840 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Partial ... |
OMIM:210710 |
9Q21.13 Microdeletion Syndrome |
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Gray matter heterotopia |
ORPHA:531151 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Gray matter heterotopia |
OMIM:618797 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia |
OMIM:608624 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Periventricular heterotopia |
OMIM:618870 |
16Q24.3 Microdeletion Syndrome |
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Colpocephaly, Periventricular heterotopia |
ORPHA:261250 |
Hydrolethalus Syndrome 1 |
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Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Agenesis ... |
OMIM:236680 |
Miller-Dieker Lissencephaly Syndrome |
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Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:247200 |
Opitz-Kaveggia Syndrome |
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Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:305450 |
Van Maldergem Syndrome 2 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Neuromuscular Oculoauditory Syndrome |
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Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618733 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Orofaciodigital Syndrome Type 14 |
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Dilated fourth ventricle, Periventricular heterotopia, Partial agenesis of the corpus callosum, M... |
ORPHA:434179 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormal brainstem morphology, Abnormality of neuronal migration |
ORPHA:464311 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Smith-Lemli-Opitz Syndrome |
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Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Hydroce... |
OMIM:270400 |
Fontaine Progeroid Syndrome |
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Cerebellar vermis hypoplasia, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia... |
OMIM:612289 |
Pagod Syndrome |
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Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida |
ORPHA:991 |
Koolen-De Vries Syndrome |
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Gray matter heterotopia |
OMIM:610443 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Gray matter heterotopia, Impaired pain sensation |
ORPHA:453499 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Gray matter heterotopia, Agenesis of corpus callosum, Impaired pain sensation |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Gray matter heterotopia, Agenesis of corpus callosum, Impaired pain sensation |
ORPHA:352665 |
Periventricular Nodular Heterotopia 9 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Nijmegen Breakage Syndrome |
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Abnormality of neuronal migration |
ORPHA:647 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Impaire... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Impaire... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
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Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Periventricular heterotopia,... |
ORPHA:2152 |
Genitopatellar Syndrome |
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Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:606170 |
Proteus Syndrome |
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Gray matter heterotopia |
ORPHA:744 |