| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Gonadal dysgenesis, Retinal dysplasia, Cerebellar dysplasia |
OMIM:615041 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Pigmentary retin... |
OMIM:613154 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614830 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Abnormal cerebrospinal fluid morphology, Babinski sig... |
ORPHA:314404 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia, Ce... |
ORPHA:2703 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Optic nerve dysplasia, Spastic paraplegia, Cerebral atrophy, Lateral ventricle dilatation, Lower ... |
OMIM:617296 |
| Fried Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Spastic diplegia, Abnormal optic nerve morphology,... |
ORPHA:85335 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Retinal dystrop... |
ORPHA:397715 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle resp... |
OMIM:615574 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Cerebellar malformation, Ventriculomegaly |
ORPHA:324416 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Inability to walk, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Hypertonia, Cerebel... |
OMIM:618174 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| 47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:8 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Optic atrophy |
OMIM:619470 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Retinopathy, Gait disturbance |
ORPHA:26 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| 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 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| 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 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Optic atrophy, Abnormal pyramidal sign, Cerebral atrophy, Abnormality of extrapyra... |
OMIM:300884 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dilated... |
OMIM:619725 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cereb... |
ORPHA:397951 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Optic atrophy, Cerebral atroph... |
OMIM:616034 |
| Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Inability to walk, Hydrocephalus, ... |
OMIM:613155 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Spastic paraplegia, Optic a... |
OMIM:615191 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydroce... |
OMIM:615181 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Retinal dysplasia |
OMIM:615771 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia |
ORPHA:2807 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia |
ORPHA:99966 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... |
OMIM:220220 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia |
ORPHA:352682 |
| Aicardi Syndrome |
|
Retinal detachment, Cerebellar vermis hypoplasia, Spina bifida, Precocious puberty, Chorioretinal... |
OMIM:304050 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cerebel... |
OMIM:613153 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Corpus callosum atrophy, Cryptorchidism, Cerebral atrophy, Lateral ventricle dilatation, Dilated ... |
OMIM:619244 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia |
OMIM:604213 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Gait disturbance, Micropenis, Dilated third ventricl... |
ORPHA:500055 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hydrocephalus, Long penis, Optic atrophy |
ORPHA:1672 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
OMIM:618709 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... |
OMIM:220200 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Cerebellar hypoplasia |
ORPHA:1528 |
| Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Retinal atrophy, Re... |
OMIM:615960 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Ventriculomegaly |
ORPHA:2185 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Krabbe Disease |
|
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... |
OMIM:245200 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral cryptorchidism, Lateral ventricle dilatation, Spasticity, Dilated third ventricle, Abno... |
ORPHA:544488 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Retinal dystrophy, Ataxia, Elong... |
ORPHA:370022 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Oculomotor apraxia, Optic atrophy,... |
OMIM:614969 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Undetectable visual e... |
ORPHA:163961 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Optic atrophy, Gait disturbance, Retinal dysplasia, Ventriculomegaly |
ORPHA:272 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Retinal detachment, Occipital enc... |
ORPHA:370959 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypertonia, Hypospadias |
ORPHA:250994 |
| Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Optic atrophy, Hypertonia, Gait disturbance, ... |
ORPHA:588 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, T2 hypointense thalamus, Inability to walk, Unstea... |
ORPHA:1947 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Bilateral cryptorchidism, Epispadias, Patent ductus arteriosus, Retinal... |
ORPHA:434179 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Hy... |
ORPHA:1532 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Male infertility, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy |
ORPHA:276183 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
| Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology,... |
OMIM:203450 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Chiari malformation |
ORPHA:261102 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
OMIM:123155 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Hypogonadotropic hypogonadism, At... |
OMIM:215470 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Abnormal flash visual evoked potentials, Postural tremor, Loss of Purkinje ce... |
ORPHA:98755 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, A... |
ORPHA:96 |
| Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Male urethral mea... |
ORPHA:464738 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, Spasticity, Cerebellar hypoplasia, Inferior cerebellar verm... |
OMIM:304100 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Retinal dystrophy, Chorioretinal dysplasia, Cryptorchidi... |
ORPHA:899 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... |
OMIM:256600 |
| Masa Syndrome |
|
Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gait, Ventriculom... |
OMIM:303350 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia |
OMIM:615703 |
| Optic Pathway Glioma |
|
Precocious puberty, Papilledema, Hydrocephalus, Optic atrophy |
ORPHA:2086 |
| Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ventriculomegaly, Ataxia, Hydrocephalus, Cerebral atrophy, Spasticity, Increa... |
OMIM:272200 |
| Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... |
OMIM:183090 |
| Coach Syndrome 2 |
|
Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Chorioretinal coloboma |
OMIM:619111 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Optic atrophy, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatatio... |
OMIM:614219 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Hemangioblastoma |
|
Cerebellar edema, Dysesthesia, Hydrocephalus, Cerebellar hemangioblastoma, Retinal capillary hema... |
ORPHA:252054 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Oculomotor apraxia, Retinal degeneration, Ventriculo... |
OMIM:615630 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Hydro... |
OMIM:620157 |
| Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Decreased serum insulin-like growth factor 1, Impaired pain sensation, Cryptor... |
ORPHA:314389 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma, Ab... |
ORPHA:649929 |
| Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... |
ORPHA:59315 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Spastic tetraplegia, Hydrocephalus, Hypertonia, Cerebellar hypoplasia |
OMIM:619302 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Abnormal thalamic MRI signal ... |
ORPHA:363717 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Optic atrophy |
ORPHA:93262 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cerebellar vermis hypoplasia, Abnormal ... |
ORPHA:2510 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Cerebellar hypoplasia, Brain atrophy, Cerebella... |
OMIM:617967 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Spastic tetraparesis, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Cereb... |
ORPHA:171839 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Mepan Syndrome |
|
Cerebellar atrophy, Ataxia, Chorea, Optic atrophy, Cerebral atrophy, Gait disturbance, Myoclonus,... |
ORPHA:508093 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Chiari type I malformation, ... |
OMIM:618476 |
| Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation te... |
OMIM:609757 |
| Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Spasticity, Ve... |
OMIM:610333 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Decreased testicula... |
ORPHA:85284 |
| Pettigrew Syndrome |
|
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Optic atrophy, Gait ataxia, Cho... |
OMIM:304340 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Chiari type I malformation, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Diabetes insipidus, Tremor, Hypothyroidism, Optic atrophy, Cerebral at... |
OMIM:222300 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Retinal dystrophy, Ataxia, Tr... |
ORPHA:220493 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Hydrocephalu... |
OMIM:615287 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Spastic paraplegia, Optic atrophy... |
ORPHA:1215 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Retinal dystrophy... |
OMIM:608091 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... |
ORPHA:485421 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Hemiparesis, Bradykinesia, Undetec... |
OMIM:601338 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Crouzon Syndrome |
|
Hydrocephalus, Chiari malformation, Optic atrophy, Cerebellar hypoplasia |
ORPHA:207 |
| Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Hypertonia, Optic a... |
ORPHA:141 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Occipital encephalocele, Retinal atrophy, Optic nerve hypoplasia, Cryptorchid... |
OMIM:236670 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Abnormal amplitude of fla... |
ORPHA:168491 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Hypogonadism, Delayed puberty |
ORPHA:141333 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopa... |
ORPHA:447788 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Optic atrophy, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Ventricu... |
ORPHA:60040 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Cerebral palsy, Ataxia, Hydrocephalus, Optic atrophy, Colpocephaly, Ventricul... |
OMIM:619833 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hyp... |
ORPHA:2183 |
| Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Corpus callosum atrophy, Atr... |
ORPHA:228360 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Optic disc hypoplasia, Hydrocephalus, Patent ductus arteriosus, H... |
OMIM:300514 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Spastic tetraplegia |
OMIM:300886 |
| Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, Optic atroph... |
ORPHA:35069 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Cerebellar hypoplasia, Retinal degeneration |
OMIM:615249 |
| Nephronophthisis 18 |
|
Hydrocephalus, Retinitis |
OMIM:615862 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Chiari type I malformation,... |
OMIM:218350 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Acroparesthesia, Lower limb spasticity, Ataxia, D... |
ORPHA:206443 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... |
OMIM:617523 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Hydroc... |
OMIM:617281 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,... |
OMIM:610688 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Retinal dystrophy, Ataxia, Hy... |
ORPHA:2318 |
| Joubert Syndrome 14 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Morning glory... |
OMIM:614424 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus |
OMIM:260500 |
| Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele, Optic atrophy |
ORPHA:1914 |
| Hec Syndrome |
|
Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele |
ORPHA:2119 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retino... |
OMIM:610651 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly |
OMIM:618577 |
| Dural Sinus Malformation |
|
Papilledema, Somatic sensory dysfunction, Ataxia, Parkinsonism, Myelopathy, Abnormal cerebellum m... |
ORPHA:97339 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Ataxia, Hydrocephalus, Optic atrophy, Dysmetria, Yellow/white lesions of... |
ORPHA:93400 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Spasticity |
OMIM:600348 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
| Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:618302 |
| Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Hydro... |
OMIM:620155 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Ventriculomegaly, Cerebellar cyst |
OMIM:616538 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... |
OMIM:614643 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Hydrocephalus, Patent ductus arteriosus, Optic atrophy, Cerebral atrophy, Ven... |
OMIM:614576 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Exaggerated startle response, Hydrocephalus, Optic atrophy, Re... |
OMIM:253800 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Hydrocephalus, Upper motor neuron dysf... |
ORPHA:395 |
| Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Tremor, Inability to walk, Babinski sign, O... |
ORPHA:52368 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
| Peho Syndrome |
|
Cerebellar atrophy, Hydrocephalus, Optic atrophy, Atrophy/Degeneration affecting the brainstem, C... |
ORPHA:2836 |
| Friedreich Ataxia |
|
Impaired vibratory sensation, Diabetes mellitus, Ataxia, Babinski sign, Optic atrophy, Impaired p... |
OMIM:229300 |
| Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... |
ORPHA:73256 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... |
ORPHA:309256 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Atrophy of the spinal cord, Inability to walk, Par... |
ORPHA:2822 |
| Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... |
ORPHA:254516 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, Ataxia, Poor motor coordination, Tremor, Rigi... |
ORPHA:25 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Hydrocephalus, Rod-cone dystrophy, Abnormal sperm motility,... |
ORPHA:244 |
| Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Facial palsy, Dandy-Walker malformation |
OMIM:310400 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia, Ventriculomegaly, Abnormality of visual evoked poten... |
ORPHA:1933 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... |
ORPHA:54595 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| 3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Hydrocephalus, Optic atrophy, Chorioretinal... |
ORPHA:7 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Spasticity |
OMIM:615599 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Incoordination, Patchy atrophy of the retinal pigment epithelium, Poor fine motor coordination, U... |
ORPHA:436245 |
| Sturge-Weber Syndrome |
|
Retinal detachment, Abnormal retinal vascular morphology, Hydrocephalus, Optic atrophy, Chiari ma... |
ORPHA:3205 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Optic atrophy, Cerebral atrophy,... |
OMIM:618590 |
| Biemond Syndrome Ii |
|
Abnormality of the endocrine system, Hydrocephalus |
OMIM:210350 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor... |
OMIM:615219 |
| Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:79323 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:175700 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Hydrocephalus, Abnormality o... |
ORPHA:2969 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Optic atrophy, Facial palsy |
ORPHA:53 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Chorea, Oculomotor apraxia, Spasticity, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:2770 |
| Classic Galactosemia |
|
Male infertility, Speech apraxia, Decreased serum insulin-like growth factor 1, Premature ovarian... |
ORPHA:79239 |
| Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
| Lead Poisoning |
|
Abnormal sperm morphology, Decreased female libido, Somatic sensory dysfunction, Abnormality of t... |
ORPHA:330015 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Optic disc ... |
ORPHA:1454 |
| L1 Syndrome |
|
Aganglionic megacolon, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturban... |
ORPHA:275543 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno... |
OMIM:616875 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Abnormality of visual evoked potentials... |
ORPHA:702 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy, Vaginal atresia |
ORPHA:3301 |
| Peho Syndrome |
|
Cerebellar atrophy, Optic atrophy, Undetectable visual evoked potentials, Myoclonus, Neuronal los... |
OMIM:260565 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Hypospadias, Optic nerve hypoplasia, Abnormal cerebellum morphology, Hydrocepha... |
ORPHA:93932 |
| Monosomy 18Q |
|
Abnormal retinal morphology, Bilateral cryptorchidism, Hydrocephalus, Patent ductus arteriosus, P... |
ORPHA:1600 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Micropenis, Chiari type I malformation, Hypothalamic hama... |
OMIM:241800 |
| Pelvis-Shoulder Dysplasia |
|
Waddling gait, Ambiguous genitalia, Spina bifida, Hydrocephalus, Retinal coloboma, Hydranencephaly |
ORPHA:2839 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Abnormality of peripheral nerv... |
ORPHA:585 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... |
OMIM:216400 |
| Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Hypertonia, Optic atrophy, Gait disturbance |
ORPHA:2971 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Enlarged flash visual evoked potentials, Retinal atrophy, Hydrocephalus, Op... |
OMIM:253280 |
| Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Hemiplegia/hemiparesis, Cerebellar hypoplasia, Dandy-Walker malfor... |
ORPHA:1647 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Abnormality of the endocrine syste... |
ORPHA:2356 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:1516 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... |
ORPHA:309263 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hypertonia, Brain atrophy, Dandy-Walker ... |
OMIM:612938 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Abnormality of pattern visual evoked potenti... |
ORPHA:166035 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
| Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... |
ORPHA:309271 |
| Gapo Syndrome |
|
Dysmenorrhea, Optic atrophy, Oligozoospermia, Hypogonadism, Amenorrhea |
ORPHA:2067 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Hydrocephalus, Ocular albinism, Hypertonia, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2720 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Pa... |
OMIM:157640 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Hydrocephalus, Decrease... |
OMIM:616222 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Corpus callosum atrophy, Optic atrophy, Dystonic gait, Cerebral atrophy, Abnormality of visual ev... |
ORPHA:480898 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Pigmentary retinopathy, Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility, Fasciculations |
OMIM:313200 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Inability to w... |
ORPHA:300570 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Cranial nerve compression, Optic atrophy, Facial paralysis |
OMIM:259710 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
| Medulloblastoma |
|
Ataxia, Cerebellar calcifications, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Inten... |
ORPHA:616 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Cryptorchidism, Hydrocephalus, Optic atrophy, Prominent scrotal raphe |
ORPHA:1555 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Hemiparesis, Fusion of the left and right t... |
OMIM:617542 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus... |
ORPHA:220497 |
| Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Aplasia/Hypoplasia of the cerebellum, Micropeni... |
ORPHA:1926 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2701 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Ol... |
ORPHA:91351 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Retinal coloboma, Occipital meningocele... |
OMIM:616546 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus... |
ORPHA:475 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Hypoplasia of the ovary,... |
OMIM:619321 |
| Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Hypothyroidism, Abnormal cerebellar peduncle morpho... |
ORPHA:909 |
| Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
| Trisomy 1Q |
|
Small scrotum, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Cerebellar hypoplasia, Am... |
ORPHA:261344 |
| Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Chiari ... |
OMIM:207950 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Hydrocephalus, Optic atrophy, Spasticity, Retinopathy |
ORPHA:220295 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
| Emanuel Syndrome |
|
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Cerebral atrophy, Chiari malformation, H... |
ORPHA:96170 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Lower limb spasticity, ... |
ORPHA:206436 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Clonus, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Cereb... |
OMIM:259720 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Clonus, Spastic tetraparesis, Babinski si... |
ORPHA:423479 |
| Knobloch Syndrome |
|
Retinal detachment, Occipital encephalocele, Hydrocephalus, Patent ductus arteriosus, Abnormal vi... |
ORPHA:1571 |
| Emanuel Syndrome |
|
Torticollis, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Micropeni... |
OMIM:609029 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulating hormone concentration, Op... |
OMIM:101800 |
| 6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:251046 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Hydrocephalus, Optic atrophy, Hypoplastic labia majora, Chiari malfor... |
OMIM:123790 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Optic atrophy, Annular pancreas, Clitoral hypoplasia,... |
OMIM:147791 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Facial paralysis, Optic atrophy, Facial palsy |
OMIM:259700 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Gait disturbance, Aplas... |
ORPHA:1812 |
| Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Remnants of the hyaloid vascular system, Facial palsy, Bilateral ves... |
ORPHA:637 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Optic atrophy, Spastic diplegia, Hypoplastic labia majora, Undetec... |
OMIM:614225 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Optic disc hypoplasia, Ventriculomegaly |
ORPHA:238769 |
| Crouzon Syndrome |
|
Hydrocephalus, Optic atrophy, Dysgerminoma |
OMIM:123500 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Pigmentary retinopathy, Colpocep... |
OMIM:309801 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Hydrocephalus, Cerebellar hypoplasia, Oculomotor apraxia, Micropenis, Dandy-Walker... |
OMIM:617822 |
| Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:377 |
| Apert Syndrome |
|
Hydrocephalus, Optic atrophy, Ovarian neoplasm, Chiari malformation, Ventriculomegaly |
ORPHA:87 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... |
OMIM:308750 |
| Myotonic Dystrophy 1 |
|
Cerebral atrophy, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Clumsiness |
OMIM:300558 |
| Hogue-Janssen Syndrome 2 |
|
Inability to walk, Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616362 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Retinal dystrophy, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Cryptorchidism, Op... |
OMIM:619512 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Patent ductus arteriosus, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Cerebral atrophy |
OMIM:616521 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Unsteady gait, Dysmetria, A... |
ORPHA:96121 |
| Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration, Papilledema, Hydrocephalus, Abnormality of retinal pigmentation |
OMIM:309900 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Cerebral atrophy |
OMIM:269920 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Diabetes mellitus, Retinopathy, Diabetes insipidus, Cryptorch... |
ORPHA:2162 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Babinski sign, Optic atrop... |
OMIM:231550 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal optic nerve morphology... |
ORPHA:3412 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Hemiparesis, Pseudobulbar paralysis, Gait disturbance, Abnormality of visual evoked potentials, N... |
OMIM:125310 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker malformation, Ventr... |
OMIM:225790 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Hydrocephalus, Gait disturbance |
ORPHA:2181 |
| Triploidy |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... |
ORPHA:3376 |
| Monosomy 9Q22.3 |
|
Ovarian fibroma, Hydrocephalus, Chiari malformation, Retinopathy, Ventriculomegaly |
ORPHA:77301 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Patent ductus ar... |
OMIM:617053 |
| B4Galt1-Cdg |
|
Hydrocephalus, Hypothyroidism, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:79332 |
| Meckel Syndrome |
|
Encephalocele, True hermaphroditism, Abnormal chorioretinal morphology, Pancreatic fibrosis, Panc... |
ORPHA:564 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Hypoplastic m... |
OMIM:605627 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holopr... |
ORPHA:77298 |
| Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Clonus, Aqueductal stenosis, Precocious puberty, Hydroce... |
ORPHA:58 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
| Cockayne Syndrome B |
|
Ataxia, Cerebellar calcifications, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:133540 |
| Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
| Cryptococcosis |
|
Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Prostatiti... |
ORPHA:1546 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hydroceph... |
OMIM:220210 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Atrophy of the spinal cord, Hydrocephalus, Optic atrophy, Cerebral atro... |
ORPHA:79282 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Oligozoospermia, Azoospermi... |
ORPHA:125 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Retin... |
OMIM:243605 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Tremor, Hydrocephalus, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Cere... |
OMIM:277400 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity |
ORPHA:2182 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Aplasia of the vagina, Ap... |
ORPHA:457284 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypertonia, Macular hypoplasia, Dandy-Walker malformation |
OMIM:300960 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... |
OMIM:615842 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Retinal degeneration, Hydrocephalus, Optic atrophy, Abnormal pyramida... |
ORPHA:581 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Rod-cone dystrophy, Ataxia, Cerebral atrophy |
OMIM:616084 |
| Lhermitte-Duclos Disease |
|
Ataxia, Hydrocephalus, Enlarged cerebellum, Ovarian neoplasm, Neoplasm of the thyroid gland |
ORPHA:65285 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Tetraplegia, Cerebellar hypoplasia, Am... |
OMIM:257300 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
| Mucopolysaccharidosis Type 1 |
|
Hemiplegia/hemiparesis, Hydrocephalus, Optic atrophy, Paresthesia, Retinopathy |
ORPHA:579 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... |
ORPHA:1908 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Hydrocele testis, Brain atrophy, Ventriculomegaly |
OMIM:613603 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Hypertonia |
ORPHA:1895 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Azoospe... |
ORPHA:2072 |
| Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology |
ORPHA:2189 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Gait disturbance |
OMIM:613330 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Endocrine-Cerebroosteodysplasia |
|
Ambiguous genitalia, Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalu... |
OMIM:612651 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Optic atrophy, Hydrocele testis... |
ORPHA:79330 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity |
OMIM:307000 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal ... |
ORPHA:2556 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Cerebral palsy, Hydrocephalus, Clumsiness, Gait disturbance, Cerebral cortical a... |
OMIM:616260 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Bile duct ... |
OMIM:611134 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Torticollis, Oligozoospermia |
OMIM:314300 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosence... |
OMIM:264480 |
| Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
| Hurler Syndrome |
|
Hydrocephalus, Neurodegeneration, Retinal degeneration |
OMIM:607014 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Male pseudohermaphroditism, Gonadal dysgenesis, male |
ORPHA:2075 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Abnormality of the male genitalia, Cho... |
OMIM:614886 |
| Distal Triplication 15Q |
|
Abnormal external genitalia, Hydrocephalus, Patent ductus arteriosus, Hydrocele testis, Dandy-Wal... |
ORPHA:314588 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Optic nerve... |
OMIM:610829 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hemiparesis, Hydrocephalus |
ORPHA:398189 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Ataxia, Precocious puberty, Cryptorchidism, Hydrocephalus, A... |
ORPHA:636 |
| Hurler Syndrome |
|
Cerebral palsy, Hydrocephalus, Abnormal pyramidal sign, Spastic paraparesis, Abnormal nerve condu... |
ORPHA:93473 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation |
OMIM:612301 |
| Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:613001 |
| Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hemiparesis, Hypospadias |
ORPHA:2409 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Ambiguous genitalia |
ORPHA:1237 |
| Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Optic atrophy, Cerebral cortical atrophy |
ORPHA:1340 |
| Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
| Lateral Meningocele Syndrome |
|
Cryptorchidism, Hydrocephalus, Meningocele, Patent ductus arteriosus, Chiari type I malformation |
OMIM:130720 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Inability to walk, Patent ductus arteriosus, Hydrocephalus, ... |
ORPHA:505248 |
| Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Brain atrophy, Lower limb hypertonia, Ventriculomegaly |
ORPHA:2169 |
| Whipple Disease |
|
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Erectile dysfunction, Hypothyroidism |
ORPHA:3452 |
| Coccidioidomycosis |
|
Abnormal retinal morphology, Abnormality of the endocrine system, CSF pleocytosis, Hydrocephalus,... |
ORPHA:228123 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Ataxia, Spasticity |
ORPHA:381 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:601499 |
| Tetrasomy 9P |
|
Absent gallbladder, Abnormal chorioretinal morphology, Cryptorchidism, Hydrocephalus, Oligozoospe... |
ORPHA:3310 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Optic atrophy, Polycystic ovaries, Hemiplegia, Cerebellar malformation |
ORPHA:137675 |
| Glutaric Acidemia I |
|
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... |
OMIM:231670 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Hydrocephalus, Supernumerary nipple, Micropenis |
OMIM:619951 |
| Trisomy 17P |
|
Patent ductus arteriosus, Hydrocephalus, Hypoplasia of penis, Hypertonia |
ORPHA:261290 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Noncommunicating hydrocephalus, Clumsiness |
OMIM:619320 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Hydrocephalus, Partial absence of cerebellar vermis, Cerebel... |
OMIM:613150 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
| Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Patent ductus ar... |
OMIM:602535 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
| Desmosterolosis |
|
Rigidity, Patent ductus arteriosus, Hydrocephalus, Hypertonia, Ambiguous genitalia, Spasticity, V... |
ORPHA:35107 |
| Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Spasticity |
ORPHA:1946 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalu... |
ORPHA:2166 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Cerebellar hypoplasia |
ORPHA:163966 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Hydrocephalus, Aganglionic megacolon, Cerebral cortical atrophy |
OMIM:239300 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Cerebral atrophy, Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Hypospadias, Decreased response to growth hormone stimulation test, Testicular ne... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Hypospadias, Decreased response to growth hormone stimulation test, Testicular ne... |
ORPHA:363958 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| White-Sutton Syndrome |
|
Waddling gait, Optic nerve hypoplasia, Patent ductus arteriosus, Cerebral atrophy, Abnormality of... |
OMIM:616364 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Hypertonia, Ataxia, Abnormal salivary gland morphology |
ORPHA:31 |
| 15Q Overgrowth Syndrome |
|
Congenital stationary night blindness, Hydrocephalus, Brain atrophy, Dandy-Walker malformation |
ORPHA:314585 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation |
OMIM:607361 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Optic disc pallor, Cerebellar atrophy, Ataxia, Spastic paraplegia, C... |
ORPHA:309282 |
| H Syndrome |
|
Diabetes mellitus, Hydrocephalus, Azoospermia, Hypogonadism, Delayed puberty, Micropenis, Decreas... |
ORPHA:168569 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials, Spasticity, Brain atrophy, Cerebral atrophy |
OMIM:609304 |
| Gaucher Disease |
|
Ventriculomegaly, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormality of extrapyra... |
ORPHA:355 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Optic nerve dysplasia, Hypertonia, Oculomotor apraxia, Cerebral cortical atrophy |
OMIM:115150 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
ORPHA:459061 |
| Holoprosencephaly 14 |
|
Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial absence... |
OMIM:619895 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Diffuse cerebral atrophy, Spina bifida, Hydrocephalus, Hydrocele testis, Ankle clonus |
OMIM:613776 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Hydrocephalus, Optic disc coloboma |
ORPHA:261337 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus |
ORPHA:1865 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Retinal arteriolar tortuosity, Hydrocephalus, Babinski sign, Retinal hemorrha... |
OMIM:175780 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Abnormal gallbladder morphol... |
ORPHA:512 |
| Plasminogen Deficiency, Type I |
|
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
| Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
| Arachnoiditis |
|
Hydrocephalus, Paresthesia |
ORPHA:137817 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Desmosterolosis |
|
Patent ductus arteriosus, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, ... |
OMIM:602398 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Cryptorchidism, Delayed puberty |
ORPHA:3121 |
| Aymé-Gripp Syndrome |
|
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Breast hypoplasia, Chiari type I malform... |
ORPHA:1272 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Abnormal morphology of female internal genitalia, Cerebral cortical atrophy |
ORPHA:1834 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Chiari malforma... |
ORPHA:268810 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Li... |
ORPHA:401973 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Fanconi Anemia |
|
Aganglionic megacolon, Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, ... |
ORPHA:84 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia, Breast hypoplasia |
OMIM:614813 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased circulating cortisol level, ... |
OMIM:620305 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Chiari type I malformation, Hypertonia, H... |
OMIM:270400 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Clonus, Hypertonia, Chorioretinal coloboma, Micropenis, Intention tremor, Hypospad... |
OMIM:619475 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Chorioretinal coloboma |
ORPHA:268249 |
| Lymphangioleiomyomatosis |
|
Retinal hamartoma, Hydrocephalus, Abnormal morphology of female internal genitalia, Optic atrophy |
ORPHA:538 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
| Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Hydrocephalus |
OMIM:617244 |
| Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus, Optic atrophy |
ORPHA:1106 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
| Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Vaginal atresia... |
OMIM:101200 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Hydrocephalus, Optic nerve compression, Abnormality of visual evoked potentials |
ORPHA:667 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor, Wide penis,... |
ORPHA:3455 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Uterine leiomyoma, Hydrocephalus, Irregular menstruation |
OMIM:616482 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasi... |
OMIM:249000 |
| Pfeiffer Syndrome |
|
Hydrocephalus, Chiari malformation |
OMIM:101600 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Absent outer dynein arms, Male infertility |
OMIM:244400 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Cerebel... |
ORPHA:163979 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Chiari type II malformation, Hydrocephalus, Spina bifida occulta, Myelomeningocele |
OMIM:613686 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo... |
ORPHA:273 |
| Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Tetrasomy 5P |
|
Hydrocephalus, Cerebellar hypoplasia |
ORPHA:3309 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Chiari type I malformation, Cryptorchidism, Hydrocephalus |
OMIM:182212 |
| Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
| 1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Hydrocephalus |
ORPHA:250989 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta |
ORPHA:2437 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials, Spastic tetraplegia, Brain atrophy, Limb hypertonia |
OMIM:614457 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Chiari malformation |
ORPHA:93259 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Hypospadias, An... |
OMIM:619841 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, Hydrocephalus, Chiari mal... |
OMIM:618162 |
| Oeis Complex |
|
Bifid uterus, Cryptorchidism, Hydrocephalus, Myelomeningocele, Epispadias, Ambiguous genitalia, f... |
OMIM:258040 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, Facial palsy, External genital hypoplasia, Cryptorchidism... |
ORPHA:2658 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Aganglionic megacolon, Hypospadias, Spina bifida, Retinal ar... |
ORPHA:567 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Decreased response to growth hormone stimulation test, Hydrocephalus, Distal ... |
OMIM:616007 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Hypertonia, Hemiparesis |
ORPHA:974 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Chiari malformation, Ventriculomegaly |
ORPHA:2462 |
| Hermansky-Pudlak Syndrome |
|
Abnormality of visual evoked potentials, Menometrorrhagia, Abnormal optic nerve morphology, Ocula... |
ORPHA:79430 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Hypertonia |
ORPHA:1389 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Retinal dysplasia, Cerebellar dysplasia |
OMIM:601374 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus, Peripapillary atrophy, Torticollis |
ORPHA:536467 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Frequent falls, Normal pressure hydrocephalus |
OMIM:620351 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora |
OMIM:207410 |
| Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Optic atrophy, Congenital h... |
ORPHA:709 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Micropenis |
OMIM:602361 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Renal tubular epithelial necrosis, Ventriculomegaly |
ORPHA:228308 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
| Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Spasticity |
OMIM:305450 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal mo... |
ORPHA:580 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus |
ORPHA:2184 |
| Lesch-Nyhan Syndrome |
|
Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Spasticity, Testicul... |
OMIM:300322 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Abnormal internal genitalia, Absent gallbladder, Hydrocephalus, Anenceph... |
OMIM:612284 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Renal tubular epithelial necrosis |
ORPHA:157 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Focal Dermal Hypoplasia |
|
Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele, Optic atrophy, Clitoral hy... |
OMIM:305600 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Annular ... |
OMIM:227646 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Cerebral cor... |
ORPHA:2322 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Cerebellar atrophy, Gait ataxia, Cerebral cortical atrophy, Ventricu... |
OMIM:617011 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia |
ORPHA:90652 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp... |
OMIM:203700 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Short-Rib Thoracic Dysplasia 12 |
|
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Amb... |
OMIM:269860 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Micropenis, ... |
ORPHA:457359 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormality of female external ge... |
ORPHA:235 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Abnormal external genitalia, Hypospadias, Cryptorchidism, Hydrocephalus, Optic... |
OMIM:607872 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Patent ductus arteri... |
OMIM:261540 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Hyperparathyroidism, Patent ductus arteriosus, Ovarian cyst, Ventric... |
OMIM:618188 |
| Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hypospadias, Hydrocephalus, Anencephaly |
ORPHA:1335 |
| Dextrocardia |
|
Abnormal reproductive system morphology, Hydrocephalus, Pancreatic hypoplasia |
ORPHA:1666 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Involuntary movements, Cryptorchidism, Inability to walk, Unsteady gait, Abnormality... |
ORPHA:3063 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Ataxia, Spastic paraplegia, Decreased thalamic volume, Hypertonia, H... |
ORPHA:168577 |
| Trisomy 8P |
|
Cryptorchidism, Hydrocephalus, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Micropeni... |
ORPHA:264450 |
| Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... |
ORPHA:722 |
| Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Retinal hamartoma, Pancreatic endocrine tumor, Pituitary adenoma, P... |
ORPHA:805 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Hydrocephalus, Myelomeningocele, Cerebral atrophy, Ovarian cyst, Hypothalamic h... |
OMIM:311200 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Cerebellar hypoplasia, Aplasia of the uterus, Micropenis |
OMIM:614083 |
| Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male |
OMIM:260660 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Neurodegeneration |
OMIM:253220 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Cerebellar hypoplasia, Abnorma... |
ORPHA:2461 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R... |
OMIM:107480 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Semilobar Holoprosencephaly |
|
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... |
ORPHA:93924 |
| Baller-Gerold Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Perineal fistula, Chiari malformation, Rect... |
OMIM:218600 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Patent ductus arteriosus, Bicornuate u... |
OMIM:154400 |
| Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:102500 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Inability to walk, Pontocerebellar atrophy, Facial palsy |
ORPHA:258 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Hypospadias |
OMIM:313850 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Hydrocephalus, Absent nipple |
OMIM:104350 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Osteopathia Striata With Cranial Sclerosis |
|
Patent ductus arteriosus, Hydrocephalus, Spina bifida occulta, Facial palsy |
OMIM:300373 |
| Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Retinal pigment epithelial mottling, Cerebral atrophy, Pigme... |
OMIM:219800 |
| Costello Syndrome |
|
Hydrocephalus, Cerebral atrophy, Chiari type I malformation, Vestibular schwannoma, Enlarged cere... |
OMIM:218040 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Patent ductus arteriosus, Hydrocephalus, Chiari malformation, Delayed puberty |
ORPHA:955 |
| Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Small scrotum, Absent nipple, Cryptorchidism, Patent ductus arterio... |
OMIM:612289 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Gait disturbance |
ORPHA:3042 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uterus |
ORPHA:2736 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Hypoplasia of penis, Small scrotum |
OMIM:617667 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Spina bifida, Bifid uterus, Cryptorchidism, Hydrocephalus, Epispadias, Cystocele, ... |
ORPHA:322 |
| Coffin-Siris Syndrome 12 |
|
Hypospadias, Facial palsy, Cryptorchidism, Hypothyroidism, Noncommunicating hydrocephalus, Chiari... |
OMIM:619325 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida |
OMIM:109400 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Fusion of th... |
OMIM:610828 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia |
OMIM:208150 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Increased serum testosterone level, Chiar... |
OMIM:264090 |
| Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Cryptorchidism, Hydrocephalus, Myelomeningocele, Bicornuate uterus, A... |
OMIM:219000 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| Yunis-Varon Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Cerebellar hypoplasia, Micr... |
ORPHA:3472 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Cryptorchidism, Hydrocephalus, Colpo... |
OMIM:210710 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
| Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:2306 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Rectovaginal fistula |
ORPHA:1780 |
| Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:221120 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
| Split Cord Malformation |
|
Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening... |
ORPHA:573278 |
| Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Gait disturba... |
ORPHA:666 |
| Raine Syndrome |
|
Hydrocephalus |
OMIM:259775 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Patent ductus arteriosus, Cerebellar hypopl... |
OMIM:306955 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227650 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus |
OMIM:253200 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uterus, Ventriculo... |
OMIM:194190 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Kabuki Syndrome 1 |
|
Premature thelarche, Cryptorchidism, Hydrocephalus, Congenital hypothyroidism, Lateral ventricle ... |
OMIM:147920 |
| Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal |
OMIM:114290 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid adenoma |
OMIM:162200 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Adrenal gland agenesi... |
OMIM:273395 |
| Loeys-Dietz Syndrome 1 |
|
Patent ductus arteriosus, Hydrocephalus, Chiari malformation |
OMIM:609192 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus ar... |
OMIM:312870 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Fron... |
OMIM:268300 |
| Loeys-Dietz Syndrome 2 |
|
Patent ductus arteriosus, Hydrocephalus, Chiari malformation |
OMIM:610168 |
| Otopalatodigital Syndrome, Type Ii |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Spina bifida |
OMIM:304120 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Anencephaly, Severe hydrocephalus, Adrenal gland dysgenesis, Abnormal ... |
OMIM:236680 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Patent ductus arteriosus, Fron... |
OMIM:619534 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Lower limb dysmetria |
ORPHA:363700 |
| Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypogonadism |
OMIM:163950 |
| Craniofacial Microsomia 1 |
|
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus, Chiari malformation |
OMIM:164210 |
