Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Short stature, Unilateral cry... |
ORPHA:261529 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology |
OMIM:215520 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Short stature, Reduced... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Infertility, Absent outer dynein arms |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 6 |
|
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology |
OMIM:610852 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility... |
OMIM:612650 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Ciliary Dyskinesia, Primary, 32 |
|
Absent respiratory ciliary axoneme radial spokes, Infertility |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia |
OMIM:620032 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Ciliary Dyskinesia, Primary, 10 |
|
Abnormal respiratory motile cilium morphology |
OMIM:612518 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Infertility, Immotil... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology |
OMIM:225050 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Biemond Syndrome Type 2 |
|
Hypospadias, Short stature, Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Delayed p... |
ORPHA:141333 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 40 |
|
Azoospermia, Infertility, Absent outer dynein arms |
OMIM:618300 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Ciliary Dyskinesia, Primary, 17 |
|
Dynein arm defect of respiratory motile cilia |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Ciliary Dyskinesia, Primary, 28 |
|
Dynein arm defect of respiratory motile cilia |
OMIM:615505 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms |
OMIM:614017 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
ORPHA:250994 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Short stature |
ORPHA:2183 |
Ciliary Dyskinesia, Primary, 38 |
|
Infertility, Absent inner and outer dynein arms |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Infertility, Absent inner and outer dynein arms |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Nasal polyposis, Communicating hydrocephalus |
OMIM:244400 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Nasal polyposis, Absent inner and outer dynein arms |
OMIM:614935 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:614324 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Nasal polyposis, Infertility, Reduced sperm motility |
OMIM:615444 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Masa Syndrome |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:303350 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Ciliary Dyskinesia, Primary, 30 |
|
Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
Temple Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Precocious puberty, Hydrocephalus |
ORPHA:254516 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Short stature, Female infertility |
OMIM:619518 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1532 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly |
OMIM:618577 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Growth delay, Ab... |
ORPHA:3464 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... |
OMIM:241080 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Bresek Syndrome |
|
Cryptorchidism, Hydrocephalus, Growth delay, Neonatal death, Intrauterine growth retardation, Dec... |
ORPHA:85284 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Growt... |
ORPHA:77298 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Craniofacial Dyssynostosis With Short Stature |
|
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Aicardi-Goutieres Syndrome 4 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Female infertility, Hydrocephalus, Abnormal sperm motility, Ve... |
ORPHA:244 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology, Tracheal atresia |
ORPHA:2189 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Temple Syndrome |
|
Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation... |
OMIM:616222 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Short stature |
OMIM:618174 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... |
OMIM:110100 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... |
OMIM:616034 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus, Short stature |
ORPHA:2701 |
Optic Pathway Glioma |
|
Growth delay, Precocious puberty, Hydrocephalus |
ORPHA:2086 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macro... |
ORPHA:8 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature |
ORPHA:1516 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Hydrocephalus, Tracheoesophageal fistula, Growth delay, Hypogonad... |
OMIM:300514 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:175700 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:609757 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Triploidy |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... |
ORPHA:3376 |
Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... |
ORPHA:1926 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Hydrocephalus |
ORPHA:171839 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia |
OMIM:273395 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Micropenis, Short stature, Hydrocephalus |
OMIM:241800 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dysgenesis, male,... |
ORPHA:2075 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... |
ORPHA:722 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Hydrocephalus, Disproportionate short stature, Irregular menstr... |
OMIM:616482 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus |
ORPHA:1237 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Rhombencephalosynapsis |
|
Hydrocephalus, Tracheoesophageal fistula, Abnormality of the uterus, Ventriculomegaly |
ORPHA:59315 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:377 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Abno... |
ORPHA:3412 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Tetraamelia-Multiple Malformations Syndrome |
|
Tracheal stenosis, Cryptorchidism, Hydrocephalus, Vaginal atresia |
ORPHA:3301 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Short stature, Dysmenorrhea, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:90796 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Abnormal morphology of female internal genitalia, Short stature, Tracheoesophageal... |
ORPHA:1834 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Thanatophoric Dysplasia |
|
Intrauterine growth retardation, Hydrocephalus, Disproportionate short-limb short stature, Ventri... |
ORPHA:2655 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Ciliary Dyskinesia, Primary, 20 |
|
Absent outer dynein arms, Decreased fertility |
OMIM:615067 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Cryptorchidism |
OMIM:612938 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus |
OMIM:300863 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Growth delay, Hypogonadism, Infertility, Intraut... |
ORPHA:96170 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Hypospadias, Dandy-Walker malformation |
OMIM:220210 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Microp... |
OMIM:617053 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa... |
OMIM:611134 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Ventriculomegaly, Short stature, Hypospadias, Postnatal growth retardation, Crypto... |
OMIM:257300 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:109120 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, ... |
ORPHA:500055 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malformation, Ventr... |
OMIM:225790 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:615630 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Cryptorchidism, Hydrocephalus, Irregular menstr... |
OMIM:101800 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
3C Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Short stature, Hypospadias, Postnatal growth retardation, ... |
ORPHA:7 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation, Micropenis, Dan... |
OMIM:609029 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Hydrocephalus, Stillbirth, Tracheal atresia |
OMIM:617667 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly |
OMIM:619833 |
Trisomy 1Q |
|
Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Ventriculomegaly |
ORPHA:261344 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus |
ORPHA:163966 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Abnormality of the male genitalia, Hydrocephalus, Short stature |
OMIM:614886 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Lowry-Maclean Syndrome |
|
Hypospadias, Bilateral cryptorchidism, Hydrocephalus, Growth delay, Intrauterine growth retardation |
ORPHA:2409 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Disproportionate short-trunk short stature |
OMIM:613330 |
Pontocerebellar Hypoplasia, Type 7 |
|
Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly |
OMIM:614969 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uterus |
ORPHA:2736 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Cho... |
OMIM:309801 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:601499 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosencephaly, Micropenis |
OMIM:264480 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
H Syndrome |
|
Short stature, Hydrocephalus, Azoospermia, Hypogonadism, Delayed puberty, Micropenis, Decreased t... |
ORPHA:168569 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus... |
ORPHA:2839 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida |
OMIM:207950 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb sho... |
OMIM:187600 |
Trisomy 17P |
|
Hypoplasia of penis, Short stature, Hydrocephalus, Growth delay, Intrauterine growth retardation |
ORPHA:261290 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature |
ORPHA:31 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Growth delay, Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Hydrocephalus, Hydrocele testis, Intrauterine growth retardation, Da... |
ORPHA:314588 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Hydrocephalus, Tracheoesophageal fistula |
OMIM:314390 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature |
ORPHA:53 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Gracile Bone Dysplasia |
|
Micropenis, Short stature, Hydrocephalus |
OMIM:602361 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
1Q44 Microdeletion Syndrome |
|
Growth delay, Hydrocephalus, Short stature, Ventriculomegaly |
ORPHA:238769 |
Tetrasomy 15Q26 |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:370959 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Craniopharyngioma |
|
Hypogonadotropic hypogonadism, Proportionate short stature, Postnatal growth retardation, Hydroce... |
ORPHA:54595 |
Oeis Complex |
|
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Hyd... |
OMIM:258040 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1861 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
ORPHA:899 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Severe short stature |
ORPHA:1865 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora |
OMIM:207410 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Tracheoesophageal fistula, Spina bifida occulta |
ORPHA:2437 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Short stature |
ORPHA:381 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Microphallus, Holoprosen... |
OMIM:612651 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... |
ORPHA:95699 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Small scrotum, Hydrocephalus, Micropenis, Dandy-Walker malformation |
OMIM:617822 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Micropenis, Hydrocephalus |
OMIM:619951 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Rectovaginal fistula, Tracheoesopha... |
ORPHA:1780 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Tracheoesophageal fistula, Growth delay, Aplasia of the uterus, Intrauterine growt... |
OMIM:614083 |
Fg Syndrome Type 1 |
|
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:93932 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries |
ORPHA:2969 |
Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:272200 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker malformation |
OMIM:614424 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Desmosterolosis |
|
Severe short stature, Hydrocephalus, Growth delay, Ambiguous genitalia, Intrauterine growth retar... |
ORPHA:35107 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe |
ORPHA:1555 |
Fanconi Anemia |
|
Short stature, Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocep... |
ORPHA:84 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly |
ORPHA:1860 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Desmosterolosis |
|
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Ventriculomegaly |
OMIM:602398 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Short stature, Dandy-Walker malformation |
ORPHA:459061 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Spina bifida, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal tra... |
ORPHA:322 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Hydrocephalus, Anencephaly, Occipital encephalocele |
OMIM:612284 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl... |
OMIM:147791 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Hydrocephalus, Meningocele, Short stature |
OMIM:130720 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus |
OMIM:617244 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus |
OMIM:224400 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Ovarian neoplasm |
ORPHA:65285 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Crouzon Syndrome |
|
Hydrocephalus, Dysgerminoma |
OMIM:123500 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus |
OMIM:612940 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Postnatal growth retardation, Hydrocephalus, Hypoplastic male external genitalia, ... |
OMIM:605627 |
Tetrasomy 5P |
|
Postnatal growth retardation, Hydrocephalus |
ORPHA:3309 |
Dubowitz Syndrome |
|
Short stature, Hypospadias, Abnormality of female external genitalia, Postnatal growth retardatio... |
ORPHA:235 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Tracheal stenosis, Micropenis |
ORPHA:163979 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly... |
ORPHA:2166 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Growth delay, Aplasia/Hypoplasia of th... |
ORPHA:96121 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Ven... |
OMIM:123790 |
Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia |
ORPHA:15 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
Monosomy 18Q |
|
Short stature, Bilateral cryptorchidism, Hydrocephalus, Growth delay, Micropenis |
ORPHA:1600 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
1Q21.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Short stature, Cryptorchidism |
ORPHA:250989 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Hydrocephalus, Spina bifida occulta, Short stature, Myelomeningocele |
OMIM:613686 |
Cousin Syndrome |
|
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Disproportionate short stature, Ambiguous... |
OMIM:260660 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hydrocephalus, Tracheoesophageal f... |
OMIM:227646 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death, Ambiguous genitalia, Intrauterine ... |
OMIM:269860 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Mucopolysaccharidosis, Type Ii |
|
Mild short stature, Hydrocephalus, Severe short stature, Short stature |
OMIM:309900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Hypoplastic male ex... |
OMIM:236670 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth retardation,... |
ORPHA:99413 |
Turner Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth retardation,... |
ORPHA:881 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth retardation,... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Short stature, Female infertility, Postnatal growth retardation,... |
ORPHA:99226 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1064 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Short stature |
ORPHA:585 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Hydrocephalus, Spina bifida |
OMIM:613776 |
Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Hydrocephalus, Growth delay, Stillbirth, Ventriculomegaly |
OMIM:259720 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Anencephaly, Stillbirth, Severe hydrocephalus, Tracheal stenosis, Intr... |
OMIM:236680 |
Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Rhizomelic arm shortening, Vaginal atresia, Ventriculomegaly |
OMIM:101200 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Hypoplastic male external genitalia |
OMIM:608091 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Hydrocephalus, Hypoplasia of the ovary, Intrauterine growth retardation, Micropeni... |
OMIM:619321 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... |
OMIM:249000 |
Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cysts, Holoprosencepha... |
OMIM:619895 |
Aymé-Gripp Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
Mucopolysaccharidosis, Type Vii |
|
Postnatal growth retardation, Hydrocephalus, Severe short stature, Short stature |
OMIM:253220 |
Whipple Disease |
|
Hydrocephalus, Erectile dysfunction |
ORPHA:3452 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly, Ovarian neoplasm |
ORPHA:87 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Neurooculorenal Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Aqueductal stenosis, Ventriculomegaly |
OMIM:620305 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Short stature |
ORPHA:2720 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Aplasia of the vagina, Ventriculomegaly, Aplasia of the uterus |
ORPHA:457284 |
Coccidioidomycosis |
|
Abnormality of the male genitalia, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, ... |
ORPHA:228123 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Lateral ventricular asymmetry |
OMIM:616914 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Pentalogy Of Cantrell |
|
Encephalocele, Anencephaly, Hydrocephalus, Hypospadias |
ORPHA:1335 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Crypto... |
ORPHA:2658 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus |
OMIM:620351 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63259 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Short stature, Hypospadias, Septate vagina, Precocious puberty, Cry... |
OMIM:270400 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Hydrocephalus, Short stature, Hypospadias |
OMIM:305450 |
Dextrocardia |
|
Abnormal reproductive system morphology, Hydrocephalus |
ORPHA:1666 |
Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Short stature |
ORPHA:1340 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Ventriculomegaly |
OMIM:616546 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
Icf Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:2268 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Male pseudohermaphrodit... |
ORPHA:2556 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus |
ORPHA:2306 |
Meckel Syndrome |
|
Encephalocele, True hermaphroditism, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, A... |
ORPHA:564 |
Kabuki Syndrome |
|
Hypoplasia of penis, Short stature, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalu... |
ORPHA:2322 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Postnatal growth retardation, Hypoglycorrhachia, Short stature, Communicating hydrocephalus |
ORPHA:168577 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220493 |
Cockayne Syndrome A |
|
Short stature, Cryptorchidism, Irregular menstruation, Severe postnatal growth retardation, Norma... |
OMIM:216400 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Growth delay, Hydrocephalus, Short stature |
OMIM:616007 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:91350 |
Thoracoabdominal Syndrome |
|
Anencephaly, Hydrocephalus, Hypospadias |
OMIM:313850 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ovarian cyst, Ventriculomegaly |
OMIM:618188 |
Achondroplasia |
|
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia |
OMIM:100800 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:182212 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Short stature, Dandy-Walker malformation |
ORPHA:401973 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Short stature, Dandy-Walker malformation |
OMIM:300960 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Hydrocephalus, Growth d... |
ORPHA:2461 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Holoprosenc... |
ORPHA:2162 |
Holoprosencephaly 9 |
|
Short stature, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Micropenis |
OMIM:610829 |
Hurler Syndrome |
|
Hydrocephalus, Short stature |
OMIM:607014 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Ovarian fibroma, Ventriculomegaly |
ORPHA:77301 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida |
OMIM:109400 |
Alexander Disease |
|
Precocious puberty, Hydrocephalus, Aqueductal stenosis |
ORPHA:58 |
15Q Overgrowth Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
ORPHA:314585 |
Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Short stature, Lateral ventricle dilatation |
OMIM:619575 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Short stature, Hydrocephalus |
OMIM:245600 |
Mohr Syndrome |
|
Hydrocephalus, Short stature |
OMIM:252100 |
Raine Syndrome |
|
Neonatal death, Hydrocephalus, Short stature |
OMIM:259775 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Short stature |
OMIM:115150 |
Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Cryptorchidism, Hydrocephalus, Myelomeningocele, Bicornuate uterus, M... |
OMIM:219000 |
Marshall-Smith Syndrome |
|
Short stature, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:602535 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Short stature |
ORPHA:220295 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hypogonadism, Short stature, Hydrocephalus |
ORPHA:3042 |
Wolf-Hirschhorn Syndrome |
|
Short stature, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Growth delay, Seve... |
OMIM:194190 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hydrocephalus, Myelomeningocele, Hypospadias |
ORPHA:90652 |
Hurler Syndrome |
|
Growth delay, Hydrocephalus, Short stature |
ORPHA:93473 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Short stature |
OMIM:154400 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus |
OMIM:619512 |
Peters Plus Syndrome |
|
Rhizomelia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hydrocephal... |
ORPHA:709 |
Hajdu-Cheney Syndrome |
|
Cryptorchidism, Hydrocephalus, Short stature, Hypospadias |
OMIM:102500 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Testicular neoplasm, Spina bifida, Postnatal growth retardation, Cryptorchidism, Pre... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Testicular neoplasm, Spina bifida, Postnatal growth retardation, Cryptorchidism, Pre... |
ORPHA:363958 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Tracheoesophageal fistula |
ORPHA:268249 |
Stromme Syndrome |
|
Hydrocephalus, Stillbirth |
OMIM:243605 |
Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Short stature |
ORPHA:579 |
Orofaciodigital Syndrome I |
|
Ovarian cyst, Hydrocephalus, Myelomeningocele, Short stature |
OMIM:311200 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly |
ORPHA:2462 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Rhizomelia |
OMIM:618162 |
22Q11.2 Deletion Syndrome |
|
Short stature, Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital m... |
ORPHA:567 |
Kabuki Syndrome 1 |
|
Short stature, Premature thelarche, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, ... |
OMIM:147920 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Hydrocephalus, Disproportionate short stature, Severe postnatal growth retardatio... |
OMIM:210710 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Postnatal growth retardation, Hydrocephalus |
ORPHA:536467 |
Fetal Akinesia Deformation Sequence 1 |
|
Intrauterine growth retardation, Hydrocephalus, Stillbirth, Cryptorchidism |
OMIM:208150 |
Trisomy 8P |
|
Cryptorchidism, Micropenis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:264450 |
Cryptococcosis |
|
Hydrocephalus, Prostatitis |
ORPHA:1546 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Short stature, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Neonatal d... |
OMIM:612289 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Rhizomelia, Hypospadias, Postnatal growth retardation, Cryptorchidism, ... |
OMIM:261540 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hydrocephalus, Short stature, Disproportionate short-trunk short stature |
OMIM:253200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
Lymphangioleiomyomatosis |
|
Hydrocephalus, Abnormal morphology of female internal genitalia |
ORPHA:538 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
Meningioma |
|
Impotence, Hypogonadotropic hypogonadism, Hydrocephalus, Amenorrhea |
ORPHA:2495 |
Yunis-Varon Syndrome |
|
Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Hypoplas... |
ORPHA:3472 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, T... |
OMIM:107480 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Growth delay, Communicating hydrocephalus |
OMIM:616084 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hydrocephalus, Growth delay, Azoospermia, Delayed puberty, Ventriculomegaly |
ORPHA:2072 |
Cockayne Syndrome B |
|
Severe short stature, Postnatal growth retardation, Cryptorchidism, Normal pressure hydrocephalus... |
OMIM:133540 |
Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus, Short stature |
ORPHA:221120 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, ... |
OMIM:268300 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus, Short stature |
ORPHA:1106 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus |
ORPHA:79282 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Polycystic ovaries |
ORPHA:137675 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Short stature, Hypospadias, Delayed puberty |
ORPHA:955 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Spina bifida occulta, Short stature |
OMIM:300373 |
Tetrasomy 9P |
|
Cryptorchidism, Hydrocephalus, Oligozoospermia, Infertility, Intrauterine growth retardation, Mic... |
ORPHA:3310 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal, Disproportionate short... |
OMIM:114290 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Hypospadias, Hydrocephalus, Delayed puberty, Intrauterine growth retardation, Micr... |
OMIM:619475 |
Neurofibromatosis Type 1 |
|
Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Delayed puberty |
ORPHA:636 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Hypospadias, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydroceph... |
OMIM:304120 |
Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:581 |
Distal 22Q11.2 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:261337 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus |
ORPHA:505248 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Short stature, Hypospadias, Cryptorchidism, Mild fetal ventriculomeg... |
OMIM:619841 |
Focal Dermal Hypoplasia |
|
Short stature, Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Labial hypop... |
OMIM:305600 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Osteogenesis Imperfecta |
|
Rhizomelia, Short stature, Hydrocephalus, Noncommunicating hydrocephalus, Growth delay, Intrauter... |
ORPHA:666 |
Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Hydrocephalus, Perineal fistula, Rectovaginal fistula, Sever... |
OMIM:218600 |
Wiedemann-Rautenstrauch Syndrome |
|
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Intrauterine growth retard... |
OMIM:264090 |
Gaucher Disease |
|
Hydrocephalus, Short stature, Ventriculomegaly, Delayed puberty |
ORPHA:355 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Micropenis, Ventriculomegaly |
ORPHA:457359 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Cryptorchidism, Hydrocephalus, Growth delay, Lateral ve... |
OMIM:607872 |
Wiedemann-Rautenstrauch Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Wide pe... |
ORPHA:3455 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Semilobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93924 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Myelomeningocele |
OMIM:306955 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
Split Cord Malformation |
|
Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening... |
ORPHA:573278 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Hydrocephalus |
ORPHA:667 |
Costello Syndrome |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:218040 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus |
ORPHA:309282 |
Coffin-Siris Syndrome 12 |
|
Cryptorchidism, Short stature, Noncommunicating hydrocephalus, Hypospadias |
OMIM:619325 |
Mucopolysaccharidosis Type 2 |
|
Growth delay, Short stature, Communicating hydrocephalus |
ORPHA:580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Short stature |
ORPHA:363700 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Short stature, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, Neonatal death |
OMIM:619534 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
OMIM:312870 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus |
OMIM:610168 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:164210 |