| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Anteverted nares, Lateral ventricle dilatation |
OMIM:300982 |
| Bowen-Conradi Syndrome |
|
Short stature, Prominent nose, Cryptorchidism, Severe postnatal growth retardation, Severe intrau... |
ORPHA:1270 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Short stature, Broad nasal tip, Lateral ventricle dilatation, Decr... |
OMIM:619420 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 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 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella |
OMIM:620197 |
| 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 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Prominent nose, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis o... |
OMIM:619244 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology |
OMIM:215520 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Short stature, Patent ductus arteriosus, Bulbous nose, Lateral ventricle dilatation |
OMIM:618330 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Short stature, Overweight, Cryptorchidism, Hydrocephalus, Hypogonadism, Microp... |
ORPHA:500055 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Narrow nasal bridge, Anteverted nares, Unilateral cryptorchidism, Agenesis of corpus callosum, Ve... |
OMIM:618286 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Infertility, Immotil... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis |
OMIM:614935 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
| Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Infertility, Recurrent sinusitis, ... |
OMIM:615444 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Immotile sperm |
OMIM:242670 |
| 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 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... |
ORPHA:141091 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism, Ventriculomegaly |
ORPHA:1568 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia... |
OMIM:244400 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive, Hypospadias |
ORPHA:250994 |
| Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... |
OMIM:609637 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| 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 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 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Infertility, Absent inner and outer dynein arms |
OMIM:606763 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... |
ORPHA:3464 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Female infertility, Hydrocephalus, Nasal congestion, Chronic r... |
ORPHA:244 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Bulbous nose, La... |
ORPHA:544488 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| 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 |
| Cach Syndrome |
|
Premature ovarian insufficiency, T2 hypointense thalamus, Primary amenorrhea, Secondary amenorrhe... |
ORPHA:135 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Ciliary Dyskinesia, Primary, 6 |
|
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology |
OMIM:610852 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation, Growth delay |
ORPHA:85290 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Premature ovarian insufficiency |
OMIM:615889 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cryptorchid... |
ORPHA:432 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Azoospermia, Abnormality o... |
ORPHA:2183 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hypospadias, Anteverted nares, Prominent nasal bridge, Patent ductus ar... |
OMIM:617751 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Extra-axial cerebrospinal fluid accumulation, Failure to thrive in infancy, Ventriculomegaly, Dec... |
OMIM:617800 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Nasal polyposis, Neoplasm of the nose, Abnormality of the nose, Enlarg... |
ORPHA:2869 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short nose, Agenesis of corpu... |
OMIM:618577 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Failure to thrive, Hypospadias, Depressed nasal bridge... |
ORPHA:397715 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Short stature, Hydrocephalus, Obesity, Hypogonadism, ... |
ORPHA:141333 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmi... |
OMIM:614841 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma, Ab... |
ORPHA:649929 |
| Ciliary Dyskinesia, Primary, 11 |
|
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Recurre... |
OMIM:612649 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| 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 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia |
OMIM:620032 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation,... |
OMIM:613443 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Ciliary Dyskinesia, Primary, 40 |
|
Absent outer dynein arms, Patent ductus arteriosus, Azoospermia, Infertility, Chronic rhinitis |
OMIM:618300 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Broad nasal tip... |
OMIM:300148 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Temple Syndrome |
|
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Short stature, Pr... |
OMIM:616222 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Short stature, Small for gestational age, Cryptorchidism, Lateral ventricle dilatation, Micropenis |
OMIM:619847 |
| Ciliary Dyskinesia, Primary, 12 |
|
Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic... |
OMIM:612650 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Ciliary Dyskinesia, Primary, 10 |
|
Abnormal respiratory motile cilium morphology |
OMIM:612518 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| 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 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal congestion, Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
| Lissencephaly 4 |
|
Short stature, Wide nasal bridge, Growth delay, Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:66628 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis, Reduced sperm motility |
OMIM:608647 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Ovarian cyst, Precocious puberty with Sertoli cell tum... |
OMIM:175200 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:179494 |
| 49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
OMIM:609757 |
| Ciliary Dyskinesia, Primary, 32 |
|
Absent respiratory ciliary axoneme radial spokes, Infertility, Chronic rhinitis |
OMIM:616481 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Prominent nasal tip, Hypospadias, Anteverted nares, Lateral ventricle dilatation, Male urethral m... |
ORPHA:464738 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Cog5-Cdg |
|
Short stature, Prominent nose, Cryptorchidism, Wide nasal bridge, Lateral ventricle dilatation, I... |
ORPHA:263487 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Failure to thrive in infancy, Depr... |
ORPHA:284417 |
| Ciliary Dyskinesia, Primary, 13 |
|
Absent outer dynein arms, Absent inner dynein arms, Recurrent sinusitis, Infertility |
OMIM:613193 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Anteverted nares, Decreased body weight |
ORPHA:324422 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Partial agenesis of the corpus callosum, Increased CSF lactate, Latera... |
ORPHA:79243 |
| 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 |
| Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Failure to thrive in infancy, Anteverted nares, Short stature, Rhizomelia, Cryptorch... |
OMIM:611209 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Hydrocephalus, Sing... |
OMIM:273395 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating gonadotropin ... |
ORPHA:243 |
| Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Ventriculomegaly, Hypoplastic male external genitalia |
OMIM:247990 |
| Bainbridge-Ropers Syndrome |
|
Anteverted nares, Prominent nasal bridge, Supernumerary nipple, Depressed nasal bridge, Precociou... |
OMIM:615485 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Prominent nose, Abnormal preputium morphology, Bulbous nose, Choroid plexus cyst, Glandular hypos... |
ORPHA:293725 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism, Ventriculomegaly |
OMIM:618298 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Growth delay, Lateral ventricle dilatation, Short nose |
OMIM:615716 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology |
OMIM:225050 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Obesity, Partial agenesis of the corpus ca... |
OMIM:617296 |
| Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Long penis, Decreased body weight, Abnormality of the hypothalamus-pitui... |
ORPHA:1672 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Lateral ventricle dilatation, Intrauterine growth retardation, Increased CSF lactate |
ORPHA:565624 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614874 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity |
OMIM:601794 |
| Alg2-Cdg |
|
Lateral ventricle dilatation, Wide nasal bridge |
ORPHA:79326 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Small for gestational age, Recurrent upper respiratory tract infections... |
ORPHA:3078 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Patent duct... |
ORPHA:171839 |
| Cornelia De Lange Syndrome 5 |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip, Short stature,... |
OMIM:300882 |
| Aicardi Syndrome |
|
Anteverted nares, Spina bifida, Precocious puberty, Postnatal growth retardation, Partial agenesi... |
OMIM:304050 |
| Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| Glutamine Deficiency, Congenital |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Subependymal cysts, Lateral ventricl... |
OMIM:610015 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms, Chronic rhinitis, Recurrent sinusitis |
OMIM:612444 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Agenesis of ... |
OMIM:218350 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Short stature, Prominent nasal bridge, Cryptorchidism, Obesity, Hypoplasia o... |
ORPHA:110 |
| Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
| Slc35A2-Cdg |
|
Short stature, Failure to thrive in infancy, Precocious puberty, Elevated circulating thyroid-sti... |
ORPHA:356961 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Pai Syndrome |
|
Encephalocele, Nasal polyposis, Depressed nasal bridge, Midline defect of the nose |
ORPHA:1993 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Short stature, Broad nasal tip, Long nose, Wide nasal bridge, ... |
OMIM:619995 |
| Trisomy 5P |
|
Hypoplasia of penis, Short stature, Obesity, Ventriculomegaly |
ORPHA:1742 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Short stature, Overweight, Dilated third ventricle, Hydrocephalus, Latera... |
OMIM:619575 |
| 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 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| 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 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Noonan Syndrome 14 |
|
Short stature, Prominent nasal bridge, Cryptorchidism, Lateral ventricle dilatation, Prominent na... |
OMIM:619745 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Dilated third ventricle, Prominent nasal tip, Failure to thrive, Ventri... |
OMIM:615574 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| 3-Hydroxyisobutyric Aciduria |
|
Intrauterine growth retardation, Hypogonadotropic hypogonadism, Ventriculomegaly |
ORPHA:939 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Chronic rhinitis, Absent inner and outer dynein arms |
OMIM:618801 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Rhinitis, Infertility, Recurrent sinusitis, Reduced sperm motility |
OMIM:615500 |
| Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Anteverted nares, External genital hypoplasia, Short stature, Cryptorch... |
OMIM:600118 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Short stature, Wide nasal bridge, Ventriculomegaly |
ORPHA:3207 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Ventriculomegaly |
ORPHA:1261 |
| Satoyoshi Syndrome |
|
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
ORPHA:3130 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Agenesis of corpus callosum, Ventr... |
OMIM:175700 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| 49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:99330 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus, Rhizomelia |
OMIM:166990 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Wide nasal base, Failure to thrive,... |
OMIM:617788 |
| Ciliary Dyskinesia, Primary, 42 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:618695 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Failure to thrive, Anteverted nares, Dandy-Walker malformation |
OMIM:618606 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Adams-Oliver Syndrome 2 |
|
Bulbous nose, Hydrocephalus, Depressed nasal bridge, Lateral ventricle dilatation |
OMIM:614219 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Short stature, Anteverted nares, Cryptorchidism, Hydrocephalus, Short nose |
ORPHA:2701 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Growth delay, Intrauter... |
ORPHA:488635 |
| Microcephaly 27, Primary, Autosomal Dominant |
|
Cryptorchidism, Micropenis, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:619180 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Bilateral cryptorchidism, Epispadias, Patent ductus arteriosus, Bulbous... |
ORPHA:434179 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Ciliary Dyskinesia, Primary, 17 |
|
Dynein arm defect of respiratory motile cilia |
OMIM:614679 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Cryptorchidism, Shawl scrotum, Micropenis, Agenesis of corpus callosum,... |
OMIM:615433 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Leukoencephalopathy With Vanishing White Matter 4 |
|
Ventriculomegaly, Primary amenorrhea, Secondary amenorrhea |
OMIM:620314 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Anteverted nares, Wide nasal bridge |
OMIM:608629 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Bulbous nose, Lateral ventricle dilatation, Short nose |
OMIM:614105 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Depressed nasal bridge, Short stature, Cryptorchidism, Bulbous nose, Abdominal obesi... |
OMIM:300354 |
| Bilateral Generalized Polymicrogyria |
|
Growth delay, Lateral ventricle dilatation, Short stature |
ORPHA:208447 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Abnormal fallopian... |
ORPHA:2189 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Disproportionate short-limb short stature, Ambiguous genital... |
ORPHA:2772 |
| Immunodeficiency 13 |
|
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections |
OMIM:615518 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Ventriculomegaly |
ORPHA:1084 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation |
OMIM:607596 |
| Masa Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:303350 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Lissencephaly, X-Linked, 2 |
|
Prominent nasal bridge, Wide nasal bridge, Ambiguous genitalia, Micropenis, Agenesis of corpus ca... |
OMIM:300215 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
| Pierpont Syndrome |
|
Cryptorchidism, Small for gestational age, Wide nasal ridge, Ventriculomegaly |
ORPHA:487825 |
| Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Recurrent sinusitis, Dynein arm defect of respiratory motile cilia |
OMIM:615505 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis |
OMIM:155145 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External genit... |
ORPHA:177907 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| 6Q25 Microdeletion Syndrome |
|
Short stature, External genital hypoplasia, Wide nasal bridge, Failure to thrive, Agenesis of cor... |
ORPHA:251056 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin ... |
ORPHA:8 |
| Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Chronic rhinitis |
OMIM:617092 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, Short nose, Ventriculomegaly |
ORPHA:217385 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Truncal obes... |
OMIM:300957 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis |
OMIM:604571 |
| Masa Syndrome |
|
Agenesis of corpus callosum, Short stature, Ventriculomegaly |
ORPHA:2466 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Gabriele-De Vries Syndrome |
|
Cryptorchidism, Lateral ventricle dilatation, Intrauterine growth retardation, Broad nasal tip |
OMIM:617557 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
| Weaver Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Lateral ventr... |
OMIM:277590 |
| Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Short stature, Postnatal growth retardation, Cryptorchidism, Patent ductus arte... |
OMIM:243310 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Short stature, Hydrocephalus, Hypothalamic hamar... |
OMIM:241800 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Short stature, Bulbous nose, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617090 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Trache... |
ORPHA:77298 |
| Luscan-Lumish Syndrome |
|
Short stature, Long nose, Irregular menstruation, Obesity, Polycystic ovaries, Ventriculomegaly |
OMIM:616831 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchi... |
ORPHA:2083 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| 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 |
| Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Depressed nasal bridge, Ventriculomegaly |
ORPHA:420179 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Anteverted nares |
OMIM:300884 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Bresek Syndrome |
|
Convex nasal ridge, Cryptorchidism, Hydrocephalus, Growth delay, Intrauterine growth retardation,... |
ORPHA:85284 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Intrauterine growth re... |
OMIM:612938 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Patent ductus arteriosus, Short stature, Ventriculomegaly |
OMIM:615502 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:500166 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Recombinant Chromosome 8 Syndrome |
|
Anteverted nares, Depressed nasal bridge, Postnatal growth retardation, Cryptorchidism, Patent du... |
OMIM:179613 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Cryptorchidism, Micropenis, Ventriculomegaly |
ORPHA:370968 |
| Lipoid Proteinosis |
|
Nasal polyposis |
ORPHA:530 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Anteverted nares, Short stature |
ORPHA:1532 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Small pitui... |
OMIM:619479 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... |
ORPHA:398079 |
| Distal Deletion 10Q |
|
Short stature, Prominent nasal bridge, Prominent nose, Postnatal growth retardation, Patent ductu... |
ORPHA:96148 |
| Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms |
OMIM:614017 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,... |
OMIM:618291 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Short stature, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Fai... |
OMIM:615286 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Anteverted nares, Patent ductus arteriosus, Hydrocephalus, Growth delay, Lateral ventricle dilata... |
OMIM:612863 |
| Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of t... |
ORPHA:377 |
| Rhombencephalosynapsis |
|
Anteverted nares, Hydrocephalus, Tracheoesophageal fistula, Abnormality of the uterus, Fusion of ... |
ORPHA:59315 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Congenital Hydrocephalus |
|
Bulbous nose, Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... |
ORPHA:1926 |
| Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Lateral ventricle dilatation, Intrauterine growth retardation, Micropenis, Failure t... |
OMIM:619487 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Ventriculomegaly, Wide nose, Hypospadias, Small for gestational age, Anteverted na... |
OMIM:257300 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Short stature, Hypogonadotropic hypogonadism, Ventriculomegaly |
ORPHA:48431 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Patent ductus arteriosus, Ventriculomegaly |
OMIM:619797 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Precocious puberty, Bulbous nose, Wide nasal bridge, Decreased body weight, Ven... |
OMIM:300958 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Bulbous nose, Wide nasal bridge, Ambiguous genitalia |
ORPHA:1237 |
| Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Cryptorchidism, Hydrocephalus, Tracheal stenosis, Agenesis... |
ORPHA:3301 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum,... |
OMIM:618820 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616570 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:171703 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Azoospermia, Infert... |
ORPHA:10 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
| Trisomy 1Q |
|
Wide nose, Small scrotum, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Patent ductus ar... |
ORPHA:261344 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Neoplasm... |
ORPHA:54595 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation, Depressed nasal bridge |
OMIM:620075 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Obesity, Ventriculomegaly |
OMIM:300209 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Wide nasal bridge, Gonada... |
ORPHA:2075 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive |
ORPHA:26 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Short stature, Ventriculomegaly |
OMIM:608716 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Ambiguous genitalia, Agenesis of c... |
ORPHA:452 |
| Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Infertility, Absent inner and outer dynein arms |
OMIM:618063 |
| Mosaic Trisomy 1 |
|
Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Micropenis, Penile hypos... |
ORPHA:1692 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Rahman Syndrome |
|
Cryptorchidism, Ventriculomegaly |
OMIM:617537 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Ventriculomegaly |
OMIM:613730 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Short stature, Underdeveloped nasal alae, Patent ductus arteriosus, Hydrocephalus, Wide nasal bridge |
ORPHA:1516 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... |
OMIM:616034 |
| Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Growth delay, Hypogona... |
ORPHA:96170 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:619302 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Ventriculomegaly, Shawl scrotum |
ORPHA:85277 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Hydrocephalus, Ambiguous genitalia, femal... |
OMIM:602398 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Mild postna... |
OMIM:101800 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Prominent nasal bridge, Prominent nose, Cryptorchidism, Failure to thr... |
OMIM:214150 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Prominent nose, Hydrocephalus, Patent ductus arteriosus, Wide nasal bridge, Growth... |
OMIM:614886 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Short stature, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Decreased body weight, ... |
OMIM:617452 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Depressed nasal bridge, Adren... |
OMIM:614732 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Convex nasal ridge, Hydrocephalus, Abdominal obesity, Hypoplasia of the ovary, Int... |
OMIM:619321 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Increased circulatin... |
OMIM:110100 |
| Orofaciodigital Syndrome Xvii |
|
Short stature, Prominent nose, Decreased body weight, Micropenis, Ventriculomegaly |
OMIM:617926 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Wide nasal bridge |
OMIM:614870 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Hydrocephalus, Patent ductus arteriosus, Tracheoesophageal fistul... |
OMIM:300514 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Growth delay, Ventriculomegaly |
OMIM:617613 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Weight loss |
ORPHA:183 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Diabetes mellitus, Small for gestational age |
OMIM:619278 |
| Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... |
ORPHA:247768 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Slender build, Ventriculomegaly |
OMIM:300699 |
| Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus, Growth delay |
ORPHA:2086 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Fa... |
OMIM:619518 |
| Biemond Syndrome Ii |
|
Abnormality of the endocrine system, Hydrocephalus, Short stature |
OMIM:210350 |
| Catel-Manzke Syndrome |
|
Failure to thrive, Short stature, Ventriculomegaly |
ORPHA:1388 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Cryptorchidism, Failure to thrive, Ventriculomegaly |
ORPHA:88639 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Anterior pituitary hypoplasia, Broad nasal tip, Bifid nasal tip, Cryptorchidism, M... |
ORPHA:1827 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
| Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Recurrent sinusitis, I... |
OMIM:609029 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Adrenal hypoplasia, Cryptorchidism, H... |
OMIM:617053 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Ventriculomegaly |
ORPHA:1980 |
| Helsmoortel-Van Der Aa Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Short stature, Broad nas... |
OMIM:615873 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Short stature, Pr... |
ORPHA:96184 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Hypospadias, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Patent ... |
ORPHA:500159 |
| Glutaric Acidemia I |
|
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation |
OMIM:231670 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Hydrocele testis, Increased serum testosterone level, Intrauterine growth r... |
ORPHA:96181 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Failure to thrive in infancy, Ventricul... |
ORPHA:488627 |
| Triploidy |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... |
ORPHA:3376 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine growth retardation, Convex nasal ridge,... |
OMIM:610333 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Supernumerary nipple, Cryptorchidism, Hydrocephalus,... |
ORPHA:1812 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Wide nose, Short stature, Prominent nasal bridge, Cryptorchidism, Decreased body weight, Intraute... |
ORPHA:505237 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cryptorchidism, Micropenis, Ventriculomegaly |
OMIM:613156 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
| Granulomatosis With Polyangiitis |
|
Tracheal stenosis, Concave nasal ridge, Nasal mucosa vasculitis, Weight loss |
OMIM:608710 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Partial agenesis of the corpus callosum, Lateral ventricle dilatati... |
ORPHA:300570 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Wide nasal bridge, Lateral ventricle dilatation, Intrauterine growth re... |
ORPHA:572798 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Prominent nasal bridge, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge,... |
OMIM:618659 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Decreased circulat... |
OMIM:241410 |
| Xq12-Q13.3 Duplication Syndrome |
|
Decreased serum insulin-like growth factor 1, Short stature, Depressed nasal bridge, Cryptorchidi... |
ORPHA:314389 |
| Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Rhizomelia, Large for gestational age, Cryptorchidism, Short nose, Ventri... |
OMIM:616638 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Short nose, Supernumerary nipple |
ORPHA:457279 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Broad nasal tip, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Ambiguous genitalia, Micropeni... |
OMIM:614969 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly |
ORPHA:858 |
| Spastic Paraplegia 47, Autosomal Recessive |
|
Short stature, Overweight, Bulbous nose, Wide nasal bridge, Ventriculomegaly |
OMIM:614066 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Lateral ventricle dilatation, Decreased body weight, Intrauterine growth ret... |
OMIM:619229 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616540 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Micropeni... |
ORPHA:398069 |
| Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cryptorchidism, Ventriculomegaly |
ORPHA:485350 |
| Femoral-Facial Syndrome |
|
Short stature, Maternal diabetes, Cryptorchidism, Long penis, Short nose, Ventriculomegaly |
ORPHA:1988 |
| Cystic Fibrosis |
|
Failure to thrive, Absent vas deferens, Nasal polyposis, Decreased body mass index |
ORPHA:586 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age, Wide nasal bridge |
OMIM:618302 |
| Lowry-Maclean Syndrome |
|
Hypospadias, Choanal atresia, Bilateral cryptorchidism, Hydrocephalus, Growth delay, Intrauterine... |
ORPHA:2409 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Depressed nasal bridge, Short stature, Postnatal growth retardation, Cryptorchidism, Recurrent up... |
OMIM:612513 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:85179 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Ventriculomegaly |
ORPHA:457260 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Endometriosis, Long nose, Dysplastic corpus callosu... |
ORPHA:363444 |
| Rere-Related Neurodevelopmental Syndrome |
|
Anteverted nares, Hypospadias, Choanal atresia, Postnatal growth retardation, Cryptorchidism, Int... |
ORPHA:494344 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Failure to thrive, ... |
ORPHA:255182 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation |
OMIM:618914 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Warburg Micro Syndrome 3 |
|
Small scrotum, Postnatal growth retardation, Hypoplastic labia minora, Short nose, Micropenis, De... |
OMIM:614222 |
| Tatton-Brown-Rahman Syndrome |
|
Proportionate short stature, Cryptorchidism, Patent ductus arteriosus, Obesity, Short columella, ... |
ORPHA:404443 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum, Thyroid C cell hype... |
OMIM:300952 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Chronic rhinitis, Female infertility, Goiter |
OMIM:617577 |
| Ritscher-Schinzel Syndrome 1 |
|
Depressed nasal bridge, Hypospadias, Decreased response to growth hormone stimulation test, Adren... |
OMIM:220210 |
| Ogden Syndrome |
|
Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidism, Short columella, Enlarge... |
ORPHA:276432 |
| Seckel Syndrome 9 |
|
Clitoral hypertrophy, Small for gestational age, Short stature, Agonadism, Ambiguous genitalia, I... |
OMIM:616777 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Depressed nasal bridge, Short stature, Postnatal growth ... |
ORPHA:2323 |
| Kabuki Syndrome 1 |
|
Short stature, Premature thelarche, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, ... |
OMIM:147920 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Desmosterolosis |
|
Severe short stature, Depressed nasal bridge, Abnormality of the nose, Hydrocephalus, Patent duct... |
ORPHA:35107 |
| Laurin-Sandrow Syndrome |
|
Prominent nose, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Abnormality of the nose... |
ORPHA:2378 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Wide n... |
OMIM:220220 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Wide nasal bridge |
OMIM:601499 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Growth delay, Intrauterine growth retardation, Short nose, Ventriculomegaly |
ORPHA:1495 |
| 1Q21.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Bulbous nose, Wide nasal ... |
ORPHA:250989 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Growth delay, Short stature, Ventriculomegaly, Large for gestational age |
OMIM:616116 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Hyperthyroidism, Diabetes insipidus, Abnormal cerebrospinal flu... |
ORPHA:797 |
| Cystic Fibrosis |
|
Male infertility, Failure to thrive, Nasal polyposis |
OMIM:219700 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Micropenis, Ventriculomegaly |
OMIM:308350 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Abnormal cerebrospinal fluid morphology |
ORPHA:314404 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Wide nasal bridge, Wide nasal base, Obesity |
OMIM:616521 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Failure to thrive, Anteverted nares, Cryptorchidism, Obesity, Growth delay, ... |
ORPHA:96147 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Short stature, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Short nose |
OMIM:300558 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Prominent nose, Cryptorchidism, Hydrocephalus, Disproportionate short stature, ... |
OMIM:210710 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Abno... |
ORPHA:3412 |
| Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Anteverted nares, Abnormality of the parathyroid... |
ORPHA:2969 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Depressed nasal bridge, Prominent nasal bridge, Supernumerary nipple, Cryptorchidism, Hydrocephal... |
OMIM:619951 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Small scrotum, Prominent nose, Long nose, Cryptorchidism, Microphallus, Micropenis, Ventriculomegaly |
OMIM:300486 |
| 3C Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Depressed nasal bridge, Short stature, Adrena... |
ORPHA:7 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Wide nasal bridge, Ventriculomegaly, Prominent nose |
ORPHA:137831 |
| Monosomy 18Q |
|
Depressed nasal bridge, Short stature, Prominent nose, Bilateral cryptorchidism, Hypothyroidism, ... |
ORPHA:1600 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Abnormal morphology of female internal genitalia, Short stature, Tracheoesophageal... |
ORPHA:1834 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Short stature, Hypospadias, Wide nasal bridge, Ventriculomegaly |
ORPHA:66629 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
OMIM:176270 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Small for gestational age, Flared nostrils, Wide nasal bridge, Increased CSF la... |
OMIM:312170 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
| Trisomy 17P |
|
Hypoplasia of penis, Wide nose, Short stature, Prominent nose, Patent ductus arteriosus, Hydrocep... |
ORPHA:261290 |
| Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Wide nasal bridge,... |
OMIM:612651 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosence... |
OMIM:264480 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Broad nasal tip, Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Abnor... |
ORPHA:1655 |
| Crane-Heise Syndrome |
|
Hypoplasia of penis, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Intrauterine growt... |
ORPHA:1512 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Large for gestational age, Patent ductus arteriosus, La... |
OMIM:300868 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Short stature, Patent ductus arteriosus, Hydrocephalus, Ho... |
ORPHA:93274 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Ventriculomegaly |
OMIM:602501 |
| Leopard Syndrome 1 |
|
Hypospadias, Short stature, Cryptorchidism, Depressed nasal ridge, Micropenis, Hypoplasia of the ... |
OMIM:151100 |
| Distal Triplication 15Q |
|
Abnormal external genitalia, Large for gestational age, Hydrocephalus, Patent ductus arteriosus, ... |
ORPHA:314588 |
| 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 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardati... |
OMIM:619833 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Depressed nasal bridge, Hypospadias, Large for gestational age, Cryptorchidism, Ventriculomegaly |
ORPHA:457485 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Short stature, Ventriculomegaly |
ORPHA:2515 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge |
ORPHA:83473 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Hydrocephalus, Myelomeningocele, Intra... |
ORPHA:1914 |
| Alexander Disease Type I |
|
Hydrocephalus, Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia |
ORPHA:363717 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Fg Syndrome Type 1 |
|
Hypospadias, Choanal atresia, Short stature, Prominent nose, Cryptorchidism, Hydrocephalus, Small... |
ORPHA:93932 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Cornelia De Lange Syndrome 2 |
|
Short stature, Anteverted nares, Prominent nasal bridge, Postnatal growth retardation, Intrauteri... |
OMIM:300590 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Short stature |
OMIM:618174 |
| 19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Hypospadias, Anteverted nares, Precocious puberty, Cryptorchidism, Obesity, ... |
ORPHA:254346 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Short nose, Thick nasal alae, Ventriculomegaly |
ORPHA:163961 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Prominent nose, Precocious puberty, Underdeveloped nasal alae, Patent ductus arteriosus, Dispropo... |
ORPHA:2637 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... |
ORPHA:722 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:304100 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge |
ORPHA:380 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Hypoplastic labia majora, Choanal stenosi... |
OMIM:207410 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Wide nasal bridge, Hydrocele testis, Short columella, Short nose, Ventriculomegaly |
OMIM:613603 |
| Jacobsen Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Clitoral hy... |
OMIM:147791 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Micropenis, Pancreatic fibrosis, Lateral ventricle dilatation |
OMIM:263520 |
| Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
| 16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Colpocephaly, Anteverted nares, Ventriculomegaly |
ORPHA:261250 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Anteverted nares, Depressed nasal bridge, Choanal atresia, Cryptorchidism, Hydroce... |
ORPHA:1555 |
| 16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Holoprosencephaly, Short... |
ORPHA:261236 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Thanatophoric Dysplasia |
|
Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Disproportionate short-limb shor... |
ORPHA:2655 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum... |
ORPHA:899 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent ... |
OMIM:123790 |
| H Syndrome |
|
Diabetes mellitus, Short stature, Recurrent pharyngitis, Hydrocephalus, Azoospermia, Hypogonadism... |
ORPHA:168569 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Anteverted nares, Wide nasal bridge, Ventriculomegaly |
OMIM:617127 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Failure to thrive, Ventriculomegaly |
OMIM:618251 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Depressed nasal bridge, Hydrocephalus, Disproportionate short s... |
OMIM:616482 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Supernumerary nipple, Broad nasal tip, Short stature, C... |
OMIM:612530 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Intrauterine growth retardation, Vesicovaginal fistula, Wide nasal bridge, Lateral ventricle dila... |
OMIM:300896 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Hydrocephalus, Short nose, Failure to thrive |
ORPHA:1895 |
| Basilicata-Akhtar Syndrome |
|
Anteverted nares, Wide nasal ridge, Precocious puberty, Choanal stenosis, Ventriculomegaly |
OMIM:301032 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Growth delay, Short n... |
OMIM:615803 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Short stature, Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchid... |
OMIM:616541 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Ventriculomegaly |
ORPHA:319199 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Failure to thrive, Anteverted nares |
OMIM:269920 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Small scrotum, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Short n... |
OMIM:617822 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Anteverted nares, Depressed nasal bridge, Prominent nose, Hydrocephalus, Bulbous nose, Obesity, W... |
ORPHA:2180 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Short stature, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Cho... |
OMIM:309801 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation, Obesity, Overweight |
ORPHA:2822 |
| Sifrim-Hitz-Weiss Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Patent ductus arteriosus, Ambiguous... |
OMIM:617159 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Wide nasal bridge |
ORPHA:1865 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Hypospadias, Supernumerary nipple, Abnormal nasal morphology, Truncal obesity, Ventriculomegaly |
ORPHA:3224 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Benign Schwannoma |
|
Nasal polyposis, Abnormal parotid gland morphology, Abnormality of the adrenal glands |
ORPHA:252164 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, ... |
OMIM:607872 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Hyperparathyroidism, Anteverted nares, Depressed nasal bridge, Paten... |
OMIM:618188 |
| Fanconi Anemia |
|
Abnormality of the uterus, Abnormality of the hypothalamus-pituitary axis, Hypospadias, Short sta... |
ORPHA:84 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypospadias, Increased CSF lactate, Intrauterine growth retardation, V... |
OMIM:618253 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Anteverted nares |
OMIM:618731 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Prominent nasal bridge, Failure to thrive, Wide nasal bridge, Ventriculomegaly |
OMIM:619556 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Apert Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Ovarian neoplasm, Agenesis of corpus call... |
ORPHA:87 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Small for gestational age, Short stature, Patent ductus arteriosus, Lat... |
OMIM:619869 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Choanal atresia, Short stature, Underdeveloped nasal alae, Crypt... |
ORPHA:163979 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventriculomegaly, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Bu... |
ORPHA:99776 |
| Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:613001 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Failure to thrive, Hypospadias, Short stature, Narrow nasal ridge, Cryptorchidism, Colpocephaly, ... |
OMIM:620083 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Bulbous nose, Tracheoesophageal fistula, Rectovagi... |
ORPHA:1780 |
| Lateral Meningocele Syndrome |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Meningocele, Short nasal ... |
OMIM:130720 |
| Autosomal Recessive Primary Microcephaly |
|
Growth delay, Agenesis of corpus callosum, Short stature, Ventriculomegaly |
ORPHA:2512 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Increased CSF lactate, Growth delay, Failure to thrive, Ventriculomegaly |
OMIM:619272 |
| Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Decreased serum leptin, Underdeveloped nasal alae, Lateral ventricle dilatat... |
OMIM:614098 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Growth delay, Type I diabetes mellitus, Failure to thrive, Ventriculomegaly |
ORPHA:251009 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Hypospadias, Anteverted nares, Short nose, Wide nasal bridge, Intraute... |
OMIM:616897 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth ret... |
OMIM:616113 |
| Crouzon Syndrome |
|
Hydrocephalus, Deviated nasal septum, Dysgerminoma |
OMIM:123500 |
| 6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:251046 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Sotos Syndrome |
|
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Patent ductus arterios... |
OMIM:117550 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Smith-Magenis Syndrome |
|
Anteverted nares, Failure to thrive in infancy, Depressed nasal bridge, Short stature, Precocious... |
ORPHA:819 |
| Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Short stature, Broad nasal tip, Cryptorchidism, Hydrocephalus, Patent ductus arterio... |
ORPHA:96121 |
| Hogue-Janssen Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anteverted nares, Ventriculomegaly |
OMIM:616362 |
| Koolen-De Vries Syndrome |
|
Hypospadias, Prominent nasal bridge, Short stature, Underdeveloped nasal alae, Cryptorchidism, Bu... |
ORPHA:96169 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Small for gestational age, Hypospadias, Short stature, Cryptorchidism, Intrauterine growth retard... |
OMIM:301056 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Cryptorchidism, Hydroce... |
OMIM:227646 |
| Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature, Depressed nasal bridge |
ORPHA:2635 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Spina bifida, Bulbous nose, Hyd... |
OMIM:613776 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Depressed nasal bridge, Prominent nasal bridge, Ventriculomegaly |
OMIM:618974 |
| Gracile Bone Dysplasia |
|
Micropenis, Failure to thrive, Short stature, Hydrocephalus |
OMIM:602361 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Ventriculomegaly, Hypospadias, Anteverted nares, Short stature, ... |
ORPHA:2745 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Postnatal growth retardation,... |
OMIM:605627 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Ventriculomegaly |
OMIM:115210 |
| Brain Small Vessel Disease 2 |
|
Growth delay, Ventriculomegaly |
OMIM:614483 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
| Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Hypogonadotropic hypogonadism, Depressed nasal bridge, Short stature, B... |
OMIM:212720 |
| Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
| 20P12.3 Microdeletion Syndrome |
|
Short stature, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly |
ORPHA:261295 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short stature, Anteverted nares, Wide nasal bridge, Decreased body weight, Ventriculomegaly |
OMIM:618342 |
| Apert Syndrome |
|
Depressed nasal bridge, Choanal atresia, Cryptorchidism, Hydrocephalus, Rhizomelic arm shortening... |
OMIM:101200 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Colpocephal... |
OMIM:609053 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Agenesis of corpus callosum, Colpocephaly, Dysplastic corpus callosum, Depressed nasal bridge |
OMIM:619955 |
| Krabbe Disease |
|
Hydrocephalus, Failure to thrive, Increased CSF protein concentration |
OMIM:245200 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Wide nasal bridge, Tracheoesophageal fistula, Depressed nasal tip, Growth delay, A... |
OMIM:614083 |
| B4Galt1-Cdg |
|
Small for gestational age, Hydrocephalus, Wide nasal bridge, Hypothyroidism, Dandy-Walker malform... |
ORPHA:79332 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
| Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Failure to thrive in infancy,... |
OMIM:601808 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalu... |
ORPHA:2166 |
| Scalp-Ear-Nipple Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Lateral ventricle dilatation, Short colu... |
OMIM:181270 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Fryns Syndrome |
|
Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge, Bicornuate uterus, Dandy-Walker... |
ORPHA:2059 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Choroid plexus cyst, Wide nasal ... |
OMIM:603671 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Depressed nasal bridge, Failure to thrive in infancy, Ventriculomegaly |
OMIM:611182 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Long nose, Postnatal growth retardation, Patent ductus arteriosus, Bulbous nose, P... |
OMIM:620113 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Agenesis of corpus... |
ORPHA:457284 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Toriello-Carey Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Patent ductus arteriosus, Partial ag... |
ORPHA:3338 |
| 2P15P16.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Supernumerary nipple, Wide nasal bridge, Growth delay, Hypogonadism, Prom... |
ORPHA:261349 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal ridge, Intrauterine growth retardation,... |
OMIM:300863 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618603 |
| Holoprosencephaly 9 |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Anterior pituitary... |
OMIM:610829 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Anteverted nares, Supernumerary nipple, Narrow nasal tip, Cryptorchidism, Wide nasal... |
ORPHA:477993 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Decreased circulating cortisol level, Aqueductal stenosis, Cryptorch... |
OMIM:620305 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:109120 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Weiss-Kruszka Syndrome |
|
Anteverted nares, Colpocephaly, Short nose, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
| 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 |
| Aymé-Gripp Syndrome |
|
Depressed nasal bridge, Short stature, Postnatal growth retardation, Cryptorchidism, Patent ductu... |
ORPHA:1272 |
| Mulibrey Nanism |
|
Wide nose, Short stature, Depressed nasal bridge, Wide nasal bridge, Growth delay, Intrauterine g... |
OMIM:253250 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Short stature, Obesity, Ventriculomegaly |
OMIM:615630 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Depressed nasal bridge, Hydrocephalus, Hypoplast... |
OMIM:608091 |
| Microhydranencephaly |
|
Short stature, Prominent nasal bridge, Growth delay, Hydranencephaly, Agenesis of corpus callosum... |
OMIM:605013 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly |
OMIM:618624 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Small for gestational age, Short stature, Cryptorchidism, Patent ductus arteriosus, Failure to th... |
OMIM:620024 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus... |
ORPHA:2839 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... |
OMIM:249000 |
| Mend Syndrome |
|
Short stature, Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Abnormal nasal bridge morph... |
ORPHA:401973 |
| Moyamoya Disease |
|
Ventriculomegaly |
ORPHA:2573 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Short stature, Ventriculomegaly |
OMIM:611555 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity, Ventriculomegaly |
ORPHA:521390 |
| Fraser Syndrome 3 |
|
Tracheal atresia, Wide nose, Hypoplasia of penis, Small scrotum, Hydrocephalus, Convex nasal ridge |
OMIM:617667 |
| Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, ... |
ORPHA:2169 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Anteverted nares, Supernumerary nipple, Short stature, Cryptorc... |
ORPHA:261494 |
| Dpm1-Cdg |
|
Failure to thrive, Depressed nasal bridge, External genital hypoplasia, Ventriculomegaly |
ORPHA:79322 |
| Mend Syndrome |
|
Short stature, Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Bulbous nose, Failure to th... |
OMIM:300960 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent sinusitis, Nasal congestion |
OMIM:300991 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Choanal atresia, Convex nasal ridge |
ORPHA:93262 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Hydrocephalus, Growth delay, Intrauterine growth retardation, Failure t... |
OMIM:614576 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Anteverted nares, Depressed nasal bridge, Long nose, Cryptorchidism, Bulbous nose, Micropenis, Ve... |
OMIM:620224 |
| Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Failure to thrive in i... |
ORPHA:2162 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Small for gestational age, Disproportionate short-trunk short stature |
OMIM:613330 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Short stature, Wide nasal bridge, Decreased body weight, Hypothyroidism, Ventriculomegaly |
OMIM:607906 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Cryptorchidism, Colpocephaly, Hypoplastic nipples, Intrau... |
OMIM:614866 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Hypospadias, Short stature, Septate vagina, Cryptorchidism, Wide nasal bridge, Dep... |
ORPHA:261537 |
| Koolen-De Vries Syndrome |
|
Small for gestational age, Prominent nasal bridge, Short stature, Cryptorchidism, Patent ductus a... |
OMIM:610443 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Hydrocephalu... |
ORPHA:2322 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Ventriculomegaly |
ORPHA:2643 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Agen... |
ORPHA:370959 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosum, Bulbous nose, Extra-axial c... |
OMIM:616900 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal ... |
ORPHA:1908 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Obesity, Truncal obe... |
OMIM:209900 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uterus |
ORPHA:2736 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia |
ORPHA:199299 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Narrow nasal ridge, Bulbous nose, Hydrocephalus, Intrauterine growth retardation, Failure to thri... |
OMIM:612940 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Failure to thrive in infancy, Depressed nasal bridge, Proportionate short sta... |
ORPHA:500150 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Holoprosencephaly, Micrope... |
OMIM:270400 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, C... |
OMIM:617260 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Failure to thrive, Wide nose, Hypospadias, Severe short stature, Episp... |
ORPHA:2556 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Postnatal growth retardation, Short stature, Ventriculomegaly |
OMIM:620210 |
| 4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Growth delay, Intrauterine growth retardation, Agenesis of corpus callosu... |
ORPHA:238750 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Growth delay, Retractile testis, Ventriculomegaly, Low hanging columella |
OMIM:617193 |
| Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchi... |
ORPHA:1340 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Prominent nasal br... |
OMIM:618454 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Hypoplastic male ex... |
OMIM:236670 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Hyd... |
OMIM:258040 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Growth delay, Failure ... |
OMIM:254940 |
| Alg9-Cdg |
|
Depressed nasal bridge, Rhizomelia, Underdeveloped nasal alae, Bicornuate uterus, Hypoplasia of t... |
ORPHA:79328 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Failure to thrive, Depressed nasal bridge, Ventriculomegaly |
ORPHA:60040 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Extra-axial... |
OMIM:619179 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal ridge, Intrauterine growth retardation,... |
ORPHA:163966 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Narrow nasal ridge, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Bulbous nose, Partial age... |
OMIM:619512 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Agenesis of... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Agenesis of... |
ORPHA:363958 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malformation, Agene... |
OMIM:225790 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Large for gestational age, Precocious puberty, Failure to thrive, Ventriculomegaly |
ORPHA:261652 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Depressed nasal bridge, Short stature, Postnatal growth retardat... |
ORPHA:235 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Anterior pituitary hypoplasia, Choanal atresia, Short stature, Cryptorchidism, Dyspl... |
OMIM:151050 |
| Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Intrauterine gro... |
OMIM:611134 |
| Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short stature, Bilateral cryptorchidis... |
OMIM:602535 |
| Opitz-Kaveggia Syndrome |
|
Hypospadias, Choanal atresia, Short stature, Prominent nose, Cryptorchidism, Hydrocephalus, Parti... |
OMIM:305450 |
| Monosomy 9Q22.3 |
|
Ovarian fibroma, Large for gestational age, Hydrocephalus, Short nose, Ventriculomegaly |
ORPHA:77301 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Clitoral hypertrophy, Hypospadias, Anteverted nares, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616449 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Slender build, Wide nasal bridge, Ventriculomegaly, Diabetes insipidus |
OMIM:611087 |
| Lissencephaly 6 With Microcephaly |
|
Bulbous nose, Partial agenesis of the corpus callosum, Anteverted nares, Ventriculomegaly |
OMIM:616212 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Distal Deletion 3P |
|
Short stature, Anteverted nares, Cryptorchidism, Intrauterine growth retardation, Ventriculomegaly |
ORPHA:1620 |
| 14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Underdeveloped n... |
ORPHA:264200 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
| Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Hypothyroidism, Ventriculomegaly |
OMIM:619851 |
| Crouzon Syndrome |
|
Hydrocephalus, Choanal atresia, Convex nasal ridge |
ORPHA:207 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Hypospadias, Short stature, Septate vagina, Cryptorchidism, Patent ductus arterios... |
ORPHA:261552 |
| Fraser Syndrome 1 |
|
Encephalocele, Wide nose, Cleft ala nasi, Hypospadias, Depressed nasal bridge, Underdeveloped nas... |
OMIM:219000 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Colpocephaly, Agenesis of corpus callos... |
OMIM:615219 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Meningioma |
|
Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro... |
ORPHA:2495 |
| Hajdu-Cheney Syndrome |
|
Wide nose, Hypospadias, Anteverted nares, Short stature, Cryptorchidism, Patent ductus arteriosus... |
OMIM:102500 |
| 5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Ventriculomegaly |
ORPHA:228384 |
| Baraitser-Winter Syndrome 2 |
|
Agenesis of corpus callosum, Short stature, Ventriculomegaly |
OMIM:614583 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Choana... |
ORPHA:2658 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Wide nasal bridge, Micrope... |
OMIM:235255 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Bulbous nose, Flared nostrils, Wide nasal ... |
OMIM:616737 |
| Achondroplasia |
|
Anteverted nares, Depressed nasal bridge, Rhizomelia, Hydrocephalus, Disproportionate short statu... |
ORPHA:15 |
| Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anenceph... |
OMIM:612284 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Anteverted nares, Bulbous nose, Wide nasal bridge, Noncommunicating hydrocephalus, Agenesis of co... |
OMIM:619320 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Short stature, Ventriculomegaly, Increased CSF lactate |
OMIM:619059 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Failure to thrive in infancy, Broad nasal tip, Short nose, Choroid ple... |
ORPHA:798 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryptorchidism, Hydroc... |
OMIM:194190 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Bulbous nose, Patent ductus arteriosus, Short nose, Vent... |
ORPHA:284169 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly |
OMIM:615760 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Anteverted nares, Cryptorchidism, ... |
ORPHA:444072 |
| Thanatophoric Dysplasia Type 1 |
|
Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Lethal short-limbed short statur... |
ORPHA:1860 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Short stature, Hypogonadism, Intrauterine growth retardation, Failure to thrive, Ventriculomegaly |
ORPHA:79351 |
| De Sanctis-Cacchione Syndrome |
|
Severe short stature, Bilateral cryptorchidism, Gonadal hypoplasia, Decreased CSF 5-hydroxyindola... |
OMIM:278800 |
| Tetrasomy 5P |
|
Anteverted nares, Postnatal growth retardation, Hydrocephalus, Wide nasal bridge, Short nose, Fai... |
ORPHA:3309 |
| Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
| Sandestig-Stefanova Syndrome |
|
Small for gestational age, Wide nasal bridge, Intrauterine growth retardation, Convex nasal ridge... |
OMIM:618804 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Short stature, Ventriculomegaly |
OMIM:618273 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| 1Q44 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
| Orofaciodigital Syndrome I |
|
Short stature, Underdeveloped nasal alae, Pancreatic cysts, Hydrocephalus, Myelomeningocele, Wide... |
OMIM:311200 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Short stature, Hypogonadism, Ventriculomegaly |
OMIM:610651 |
| Codas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism, Rectovaginal fistula, Ve... |
OMIM:600373 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Small scrotum, Hypospadias, Anteverted nares, Depressed nasal br... |
OMIM:269150 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Short stature, Decreased response to growth hormone stimul... |
ORPHA:1855 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Depressed nasal bridge, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker m... |
ORPHA:459061 |
| Carey-Fineman-Ziter Syndrome |
|
Short stature, Anteverted nares, Glandular hypospadias, Growth delay, Short nose, Ventriculomegaly |
ORPHA:1358 |
| Cerebellofaciodental Syndrome |
|
Cryptorchidism, Short stature, Ventriculomegaly |
OMIM:616202 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Cryptorchidism, Failure to thrive, Ventriculomegaly |
ORPHA:2462 |
| Cockayne Syndrome A |
|
Slender nose, Short stature, Prominent nose, Cryptorchidism, Irregular menstruation, Severe postn... |
OMIM:216400 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Small for gestational age, Hypospadias, Growth delay, Concave nasal ridge, Failure to thrive, Ven... |
OMIM:615471 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Small for gestational age, Prominent nasal bridge, Cryptorchidism, Patent ductus art... |
ORPHA:464311 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
| Peters Plus Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Short stature, Postnatal growth retardatio... |
ORPHA:709 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Short nose, Failure t... |
OMIM:616430 |
| Trisomy 8P |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Recurrent upper respirat... |
ORPHA:264450 |
| Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Cryptorchidism, Flared nostrils, Wide nasal bridge, Micropenis, Ventriculom... |
OMIM:610954 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Cerebrofacioarticular Syndrome |
|
Short stature, Hypospadias, Bilateral choanal atresia/stenosis, Dysplastic corpus callosum, Wide ... |
ORPHA:314679 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Postnatal growth retardation, Penile hypospadias, Anteverted nares, Ventriculomegaly |
ORPHA:73230 |
| Alg12-Cdg |
|
Wide nose, Decreased serum insulin-like growth factor 1, Hypospadias, Prominent nasal bridge, Cry... |
ORPHA:79324 |
| Holoprosencephaly 7 |
|
Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum... |
OMIM:610828 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Small for gestational age, Narrow nasal tip, Prominen... |
ORPHA:464306 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
| Meckel Syndrome |
|
Encephalocele, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male ... |
ORPHA:564 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Dan... |
OMIM:612582 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... |
ORPHA:322 |
| Kaufman Oculocerebrofacial Syndrome |
|
Clitoral hypertrophy, Anteverted nares, Depressed nasal bridge, Short stature, Hypoplastic labia ... |
OMIM:244450 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Lob... |
ORPHA:468631 |
| Cousin Syndrome |
|
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Disproportionate short stature, Ambiguous... |
OMIM:260660 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Tracheoesophageal fistula, Hypoplastic nipples, Sp... |
ORPHA:2437 |
| Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Severe short stature, Cachexia, Failure to thrive, Convex nasal ... |
OMIM:610965 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Depressed nasal bridge, Anteverted nares, Short stature, Patent ductus arteriosus, Prominent nasa... |
OMIM:618870 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:99226 |
| Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:881 |
| Halperin-Birk Syndrome |
|
Colpocephaly, Intrauterine growth retardation, Failure to thrive, Agenesis of corpus callosum, Ve... |
OMIM:618651 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Tracheal stenosis, Bifid uterus, Anencephaly, Midline defect of the nose, Severe hyd... |
OMIM:236680 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation |
OMIM:607361 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ag... |
ORPHA:171680 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
| Alexander Disease |
|
Diabetes mellitus, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Hypothyroidism, Failur... |
ORPHA:58 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Short stature, Ventriculomegaly |
ORPHA:1933 |
| Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly, Decreased body we... |
ORPHA:255138 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
| Multiple Sulfatase Deficiency |
|
Short stature, Anteverted nares, Hydrocephalus, Increased CSF protein concentration, Ventriculome... |
OMIM:272200 |
| Tenorio Syndrome |
|
Wide nose, Anteverted nares, Hydrocephalus, Hypoinsulinemia, Ventriculomegaly |
OMIM:616260 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Short nose, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:613735 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Genitopatellar Syndrome |
|
Wide nose, Small scrotum, Enlarged labia minora, Prominent nasal bridge, Prominent nose, Cryptorc... |
OMIM:606170 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Short stature |
OMIM:618367 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Ventriculo... |
OMIM:616546 |
| Dextrocardia |
|
Abnormal reproductive system morphology, Hydrocephalus, Pancreatic hypoplasia |
ORPHA:1666 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Abnormality of the hypoth... |
ORPHA:220497 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Bulbous nose, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculome... |
OMIM:618476 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Anteverted nares |
OMIM:182212 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the uterus, Hypothyroidism, Hypoparathyroidism, Hyperthy... |
ORPHA:567 |
| Spastic Paraplegia 51, Autosomal Recessive |
|
Short stature, Overweight, Long nose, Bulbous nose, Wide nasal bridge, Ventriculomegaly |
OMIM:613744 |
| Developmental And Epileptic Encephalopathy 49 |
|
Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Ventriculom... |
OMIM:617281 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the endocrine system, CSF pleocytosis, Hydrocephalus, C... |
ORPHA:228123 |
| Campomelic Dysplasia |
|
Depressed nasal bridge, Short stature, Male pseudohermaphroditism, Abnormality of the sense of sm... |
ORPHA:140 |
| Joubert Syndrome 14 |
|
Encephalocele, Prominent nasal bridge, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker mal... |
OMIM:614424 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
| Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Polycystic ovaries |
ORPHA:137675 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Short nose, Failure to thrive, Ventriculomegaly |
OMIM:615851 |
| Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Spina bifida, Hydrocephalus, Wide nasal bridge, Ovarian carcinoma |
OMIM:109400 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Au-Kline Syndrome |
|
Wide nasal ridge, Supernumerary nipple, Prominent nasal bridge, Underdeveloped nasal alae, Crypto... |
OMIM:616580 |
| Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Depressed nasal bridge, Anteverted nares, Bulbous nose, Growth delay, Ventriculomegaly |
OMIM:619188 |
| Fanconi Anemia, Complementation Group W |
|
Growth delay, Intrauterine growth retardation, Decreased response to growth hormone stimulation t... |
OMIM:617784 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Wide nose, Short stature, Vaginal neoplasm, Depressed nasal ridge, Growth delay, Holoprosencephal... |
ORPHA:1052 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Short stature, Und... |
OMIM:616007 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Depressed nasal bridge, Hydrocephalus, Myelomeningocele, Short nose, ... |
ORPHA:90652 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Depressed nasal bridge, Choanal atresia, Short stature, Prominent nose, Abnormality of thyroid ph... |
OMIM:300968 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature, Abnormal salivary gland morphology |
ORPHA:31 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature |
ORPHA:53 |
| Ring Chromosome 7 Syndrome |
|
Hypospadias, Anteverted nares, Prominent nasal bridge, Short stature, Wide nasal bridge, Hydrocel... |
ORPHA:1449 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Patent ductus arteriosus, Long nose |
ORPHA:2184 |
| Pettigrew Syndrome |
|
Prominent nose, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
OMIM:304340 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Short stature, Bulbous nose, Wide nasal bridge, Growth delay, Thick nasal alae, Ventriculomegaly |
ORPHA:502 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
| Neu-Laxova Syndrome |
|
External genital hypoplasia, Spina bifida, Depressed nasal ridge, Hypogonadism, Ambiguous genital... |
ORPHA:2671 |
| Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Wide nasal bridge, Ventriculomegaly |
ORPHA:2158 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Abnormality of the hypoth... |
ORPHA:220493 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Wide nose, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Depressed nasal ridge, Bulbou... |
ORPHA:261337 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anteverted nares, Anterior pituitary hypoplasia, Depressed nasal bridge, Short stature, Aqueducta... |
OMIM:619534 |
| Ciliary Dyskinesia, Primary, 20 |
|
Absent outer dynein arms, Decreased fertility, Recurrent sinusitis |
OMIM:615067 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Crypt... |
OMIM:227650 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Peho Syndrome |
|
Hydrocephalus, Short nose, Anteverted nares, Ventriculomegaly |
ORPHA:2836 |
| Cockayne Syndrome B |
|
Slender nose, Severe short stature, Small for gestational age, Prominent nasal bridge, Postnatal ... |
OMIM:133540 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis, Intrauterine growth retardation, Choanal stenosis, Ventriculomegaly |
OMIM:620183 |
| Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Short stature, Cryptorchidism, Hydrocephalus, Failure to thrive |
ORPHA:1106 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Short stature, Underdeveloped nasal alae, Meningocele, Short nose, Ventriculome... |
ORPHA:2031 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Amb... |
OMIM:269860 |
| Shigellosis |
|
Hyponatremia, Abnormal blood ion concentration |
ORPHA:810 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Bulbous n... |
ORPHA:488632 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Hydrocephalus, Growth d... |
ORPHA:2461 |
| Acrofacial Dysostosis 1, Nager Type |
|
Short stature, Prominent nasal bridge, Aqueductal stenosis, Hydrocephalus, Patent ductus arterios... |
OMIM:154400 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Small fo... |
ORPHA:268261 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Cachexia, Hydrocephalus, Growth delay, Azoospermia, Delayed pub... |
ORPHA:2072 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ... |
ORPHA:125 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Wide nasal bridge |
OMIM:104350 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Absent nipple, Small for gestational age, Depressed nasal bridge, Short stature, C... |
OMIM:612289 |
| Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose |
OMIM:101600 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Dandy-Walker malformation, Rhizomelia, Postnatal growth retardation, Concave nasal ridge, Trachea... |
OMIM:302960 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Prominent nasolabial fold, Short nose, Ventriculomegaly |
ORPHA:2953 |
| 2Q31.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Bulbous nose, Abnormality of the hypothalamus-pituitary axis, Vent... |
ORPHA:251014 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Depressed nasal ridge, Short stature |
ORPHA:1861 |
| Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
| Yunis-Varon Syndrome |
|
Narrow nasal base, Hypospadias, Anteverted nares, Short stature, Postnatal growth retardation, Cr... |
ORPHA:3472 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Anteverted nares, Choanal atresia, Short stature, Cryptorchidism, Patent ductus arte... |
OMIM:616975 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Abnormality of the hypoth... |
ORPHA:2318 |
| Neu-Laxova Syndrome 1 |
|
Wide nose, Spina bifida, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, Choroid plexus c... |
OMIM:256520 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Choanal atresia, Bi... |
OMIM:107480 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Short stature |
ORPHA:381 |
| Khan-Khan-Katsanis Syndrome |
|
Patent ductus arteriosus after premature birth, Short stature, Colpocephaly, Intrauterine growth ... |
OMIM:618460 |
| Pseudo-Torch Syndrome 1 |
|
Anteverted nares, Patent ductus arteriosus, Failure to thrive, Increased CSF protein concentratio... |
OMIM:251290 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Short stature |
ORPHA:3042 |
| Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hypospadias, Hydrocephalus, Anencephaly |
ORPHA:1335 |
| Holoprosencephaly 14 |
|
Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partia... |
OMIM:619895 |
| Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:85138 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Short nose, Failure to thrive, Ventriculomegaly |
ORPHA:561 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Short stature, Anteverted nares, Depressed nasal bridge |
ORPHA:585 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Decreased CSF copper concentration, Glandular hypospadias, Ventriculomegaly, Increased CSF lactate |
OMIM:620306 |
| Joubert Syndrome |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Abnormality of the hypoth... |
ORPHA:475 |
| Jacobsen Syndrome |
|
Anteverted nares, Short stature, Spina bifida, Cryptorchidism, Short nose, Wide nasal bridge, Gro... |
ORPHA:2308 |
| Fetal Akinesia Deformation Sequence 1 |
|
Small for gestational age, Cryptorchidism, Hydrocephalus, Depressed nasal tip, Intrauterine growt... |
OMIM:208150 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Allergic rhinitis, Patent ductus arteri... |
OMIM:618162 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retarda... |
OMIM:261540 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Intraut... |
OMIM:616914 |
| Shashi-Pena Syndrome |
|
Broad nasal tip, Patent ductus arteriosus, Mild fetal ventriculomegaly, Intrauterine growth retar... |
OMIM:617190 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Hypospadias, Anterior pituitary hypoplasia, Prominent nasal bridge, ... |
OMIM:619841 |
| Congenital Myopathy 13 |
|
Cryptorchidism, Short stature, Ventriculomegaly |
OMIM:255995 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Small for gestational age, Anteverted nares, Phimosis, Broad nasal tip, Cryptorchidism, Patent du... |
ORPHA:363611 |
| Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hypospadias, Short stature, Postnatal growth retardation, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hypospadias, Short stature, Postnatal growth retardation, ... |
ORPHA:353277 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Ventriculomegaly, Depressed nasal bridge, Wide nose, Urethrovaginal fistula,... |
ORPHA:93271 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Hydrocephalus, Hypospadias |
OMIM:313850 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Choanal atresia, Anteverted nares, Tracheal s... |
ORPHA:818 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
| Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus, Short stature, Prominent nasal bridge |
ORPHA:221120 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Choanal atresia, Anteverted nares, Depressed nasal bridge, Shor... |
ORPHA:199 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Small for gestational age, Hypospadias, Depressed nasal bridge, Broad nasal tip, Short stature, C... |
OMIM:309590 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Intrauterine growth retardation, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:619074 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb short stature |
OMIM:187600 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Short stature, Cryptorchidism, Patent d... |
ORPHA:1606 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Depressed nasal bridge, Hypospadias, Short stature, Cryptorchidism, Wide nasal bri... |
OMIM:616734 |
| Cadds |
|
Intrauterine growth retardation, Short nose, Adrenal hypoplasia, Ventriculomegaly |
ORPHA:369942 |
| Hajdu-Cheney Syndrome |
|
Wide nose, Hypospadias, Anteverted nares, Short stature, Patent ductus arteriosus, Hydrocephalus,... |
ORPHA:955 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Depressed nasal bridge, Failure to thrive in infancy, Wide nasal bridge, Primary amenorrhea, Grow... |
OMIM:619418 |
| Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Low hanging columella, Underdeveloped nasal alae, Ventriculomegaly, Broad nasal tip |
ORPHA:404473 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Wide nasal bridge, Short nose, Broad nasal tip |
OMIM:239300 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Short nose |
ORPHA:93259 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Short stature |
ORPHA:1064 |
| Saul-Wilson Syndrome |
|
Narrow nasal bridge, Short stature, Postnatal growth retardation, Intrauterine growth retardation... |
OMIM:618150 |
| Fumarase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choroid plexus cyst, Agenesis of corpus callosum, Failu... |
OMIM:606812 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Long nose, Hydrocephalus, Depressed nasal bridge, Short nose |
OMIM:618590 |
| Macrocephaly, Benign Familial |
|
Ventriculomegaly |
OMIM:153470 |
| Adnp Syndrome |
|
Depressed nasal bridge, Short stature, Cryptorchidism, Recurrent upper respiratory tract infectio... |
ORPHA:404448 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Small for gestational age, Anteverted nares, Depressed nasal bridge, Narrow nasal ri... |
OMIM:264090 |
| 6Q Terminal Deletion Syndrome |
|
Hypospadias, Phimosis, Obesity, Colpocephaly, Failure to thrive |
ORPHA:75857 |
| Cardiofaciocutaneous Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Short stature, Bulbous nose, Hydrocephalus, Short nose,... |
OMIM:115150 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus, Abnormal morphology of female internal genitalia |
ORPHA:538 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... |
OMIM:217090 |
| Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Hydrocephalus, Bulbous nose, Oligozoospermia, Infertility, In... |
ORPHA:3310 |
| Hurler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short stature, Broad nasal tip, Hydrocephalus, Wide nas... |
OMIM:607014 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Gabriele-De Vries Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:506358 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Roifman-Chitayat Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly |
OMIM:613328 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Coffin-Lowry Syndrome |
|
Wide nose, Anteverted nares, Short stature, Thick nasal septum, Decreased body weight, Uterine pr... |
OMIM:303600 |
| Alobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Proboscis, Diabetes insipid... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Proboscis, Diabetes insipid... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Proboscis, Diabetes insipid... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Proboscis, Diabetes insipid... |
ORPHA:220386 |
| Coffin-Siris Syndrome 12 |
|
Hypospadias, Prominent nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nas... |
OMIM:619325 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Underdeveloped nasal alae, Postnatal growth retardation, Cryp... |
OMIM:268300 |
| Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:79323 |
| Trichothiodystrophy |
|
Cryptorchidism, Partial agenesis of the corpus callosum, Gonadal dysgenesis, Intrauterine growth ... |
ORPHA:33364 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Failure to thrive |
OMIM:259700 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Neonatal short-limb short stature, Severe short stature |
OMIM:224400 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Mohr Syndrome |
|
Depressed nasal bridge, Short stature, Broad nasal tip, Bifid nasal tip, Hydrocephalus |
OMIM:252100 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Hydrocephalus |
OMIM:259710 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Postnatal growth retardation, Intrauterine growth retardation, Short nose, Vent... |
OMIM:612394 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Prominent nasal bridge, Large for gestational age, Micropenis, Slend... |
ORPHA:457359 |
| Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Short stature, Postnatal growth retardation, Hydrocephalus, Recurrent upper... |
OMIM:253220 |
| Cog8-Cdg |
|
Failure to thrive, Ventriculomegaly |
ORPHA:95428 |
| Isotretinoin-Like Syndrome |
|
Anteverted nares, Postnatal growth retardation, Patent ductus arteriosus, Hydrocephalus, Intraute... |
ORPHA:2306 |
| Hurler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short stature, Hydrocephalus, Wide nasal bridge, Growth... |
ORPHA:93473 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Postnatal growth retardation, Abnormality of the endocrine system, Patent ductus art... |
ORPHA:487796 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Campomelic Dysplasia |
|
Hypospadias, Depressed nasal bridge, Spina bifida, Hydrocephalus, Recurrent upper respiratory tra... |
OMIM:114290 |
| Bohring-Opitz Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short stature, Wide nasal bridge, Severe failure to thr... |
ORPHA:97297 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Hypospadias, Anteverted nares, Overweight, Hydrocephalus, Bulbous nose, Short nose... |
OMIM:619475 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad nasal tip, Wide nasal bridge, Growth delay, Short nose, Ventriculomegaly |
OMIM:614749 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:395 |
| Ogden Syndrome |
|
Depressed nasal bridge, Short stature, Maternal diabetes, Underdeveloped nasal alae, Bifid nasal ... |
OMIM:300855 |
| Hennekam-Beemer Syndrome |
|
Wide nose, Short stature, Long nose, Wide nasal bridge, Failure to thrive, Ventriculomegaly |
ORPHA:2135 |
| Choreoacanthocytosis |
|
Lateral ventricle dilatation, Weight loss |
ORPHA:2388 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Failure to thrive |
ORPHA:974 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Male urethral meatus stenosis, Microphallu... |
OMIM:613406 |
| Mucopolysaccharidosis Type 1 |
|
Depressed nasal bridge, Short stature, Abnormal nasal morphology, Hydrocephalus, Thick nasal alae |
ORPHA:579 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Tracheoesophageal fistula |
OMIM:314390 |
| Cryptococcosis |
|
Hydrocephalus, Prostatitis |
ORPHA:1546 |
| Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Cleft ala nasi, Short stature, Supernumerary nipple, Broad nasal tip, Crypto... |
OMIM:305600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,... |
OMIM:614643 |
| Neurofibromatosis Type 1 |
|
Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Abnormality of the endocrine sy... |
ORPHA:636 |
| Achondroplasia |
|
Rhizomelia, Depressed nasal bridge, Hydrocephalus, Choanal stenosis, Neonatal short-limb short st... |
OMIM:100800 |
| 15Q Overgrowth Syndrome |
|
Hydrocephalus, Wide nasal bridge, Intrauterine growth retardation, Agenesis of corpus callosum, D... |
ORPHA:314585 |
| Mucopolysaccharidosis, Type Ii |
|
Mild short stature, Hydrocephalus, Severe short stature, Short stature |
OMIM:309900 |
| Hoyeraal-Hreidarsson Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Short stature, Ventriculomegaly |
ORPHA:3322 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Short stature |
OMIM:613686 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus |
OMIM:617244 |
| Congenital Disorder Of Deglycosylation 2 |
|
Ventriculomegaly, Short columella, Hypothalamic hamartoma, Partial agenesis of the corpus callosum |
OMIM:619775 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:613150 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Abnormality of ... |
ORPHA:1454 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anteverted nares, Patent ductus arteriosus, Hydrocele testis, Short nose, Ventriculomegaly |
ORPHA:280633 |
| Icf Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Short stature |
ORPHA:2268 |
| Stromme Syndrome |
|
Prominent nasal bridge, Hydrocephalus, Wide nasal bridge, Short columella, Agenesis of corpus cal... |
OMIM:243605 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Wide penis, Agenesis of corpus callosum, H... |
ORPHA:3455 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus, Wide nasal bridge |
OMIM:620351 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Abnormality of the endocrine system, Hydrocephal... |
ORPHA:2356 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Agenesis of corpus callosum, Hydrocephalus, Renal tubular epithelial necrosis, Ventriculomegaly |
ORPHA:228308 |
| Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Holopr... |
OMIM:142945 |
| Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Prominent nasal bridge, Underdeveloped nasal alae, Hydroceph... |
OMIM:218600 |
| Osteopathia Striata With Cranial Sclerosis |
|
Short stature, Patent ductus arteriosus, Hydrocephalus, Spina bifida occulta, Wide nasal bridge, ... |
OMIM:300373 |
| Mycophenolate Mofetil Embryopathy |
|
Agenesis of corpus callosum, Hydrocephalus, Tracheoesophageal fistula, Bifid nose |
ORPHA:268249 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:253800 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Failure to thrive, Hypothyroidism, Ventriculomegaly |
OMIM:304790 |
| Raine Syndrome |
|
Depressed nasal bridge, Choanal atresia, Short stature, Hydrocephalus, Choanal stenosis, Short nose |
OMIM:259775 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Growth delay, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:259720 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
| Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Growth delay, Hypoplastic nipples, Short nose, Breast h... |
OMIM:230740 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Short stature |
ORPHA:2720 |
| Degcags Syndrome |
|
Hypospadias, Small for gestational age, Prominent nasal bridge, Anteverted nares, Prominent nose,... |
OMIM:619488 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Hydrocephalus, Depressed nasal bridge, Short stature |
OMIM:245600 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Failure to thrive, Weight loss |
OMIM:619377 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Agenesis of corpus callosum, Renal tubular epithelial necrosis |
ORPHA:157 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Short stature, Cachexia |
ORPHA:220295 |
| Hydranencephaly |
|
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... |
ORPHA:2177 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis |
OMIM:618699 |
| Orofaciodigital Syndrome Xvi |
|
Depressed nasal bridge, Ventriculomegaly |
OMIM:617563 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Short stature, Supernumerary nipple, Cryptorchidism, Patent ductus ar... |
OMIM:235730 |
| Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida, Depressed nasal ridge, Ventriculomegaly |
OMIM:616038 |
| Lowe Oculocerebrorenal Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Failure to thrive, Ventriculomegaly |
OMIM:309000 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Holoprosencephaly 13, X-Linked |
|
Alobar holoprosencephaly, Patent ductus arteriosus, Colpocephaly, Aplasia of the nose, Agenesis o... |
OMIM:301043 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Anteverted nares, Depressed nasal bridge, Postnatal growth retardation, Hydrocephalus, Short nose |
ORPHA:536467 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Depressed nasal bridge, Spina bifida, Short stature, Postnatal growth retardation, C... |
OMIM:304120 |
| Zttk Syndrome |
|
Absent gallbladder, Depressed nasal bridge, Short stature, Dysplastic corpus callosum, Patent duc... |
OMIM:617140 |
| Aicardi Syndrome |
|
Precocious puberty, Partial agenesis of the corpus callosum, Ventriculomegaly, Delayed puberty |
ORPHA:50 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
| Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Failure to thrive in infancy, Short stature, Postnatal growth reta... |
OMIM:163950 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Short stature, Postnatal growth retardation, Decreased thalamic volu... |
ORPHA:168577 |
| Mucopolysaccharidosis, Type Vi |
|
Depressed nasal bridge, Short stature, Hydrocephalus, Recurrent upper respiratory tract infection... |
OMIM:253200 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Short stature, Increased CSF interferon alpha, Chronic CSF lymphocytosis, Micr... |
ORPHA:51 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Supernumerary nipple, Imperforate hymen, Ventriculomegaly |
OMIM:100300 |
| Proboscis Lateralis |
|
External genital hypoplasia, Proboscis, Choanal atresia, Patent ductus arteriosus, Single naris, ... |
ORPHA:141099 |
| Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid ad... |
OMIM:162200 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Failure to thrive |
OMIM:277400 |
| Primrose Syndrome |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Anteverted nares, Depressed nasal bridge, Broa... |
OMIM:259050 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Patent ductus arteriosus, Choroid plexus cyst, Tracheoesophageal fistula, Bicornuate... |
OMIM:265380 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Cryptorchidism, Short nose, Short columella, Ventriculomegaly |
OMIM:601776 |
| Knobloch Syndrome |
|
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus, Depressed nasal bridge |
ORPHA:1571 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent ductus arteriosus, Hydrocephalus, Short nose |
ORPHA:505248 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Failure to thrive |
ORPHA:79282 |
| Linear Nevus Sebaceus Syndrome |
|
Growth delay, Ventriculomegaly, Adenoma sebaceum, Dandy-Walker malformation |
ORPHA:2612 |
| Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypoth... |
OMIM:607932 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Anteverted nares, Supernumerary nipple, Depressed nasal bridge, Cryptorchidism, Pate... |
OMIM:312870 |
| Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Thick nasal alae, Ventriculomegaly, Adenoiditis |
ORPHA:581 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63259 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly, Large for gestational age |
OMIM:617011 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Bulbous nose, Small for gestational age, Ventriculomegaly |
OMIM:614501 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Webbed penis, Micropenis, Agenesis of corpus callosum, Broad columella, Hypospadia... |
ORPHA:2152 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Abnormality of the adrenal glands, Ventriculomegaly |
ORPHA:289483 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Depressed nasal bridge, Choanal atresia, Short stature, Prominent nose,... |
ORPHA:480880 |
| Costello Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Hydrocephalus, Failure to thrive, Ventri... |
OMIM:218040 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Osteogenesis Imperfecta |
|
Small for gestational age, Short stature, Rhizomelia, Hydrocephalus, Noncommunicating hydrocephal... |
ORPHA:666 |
| Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
| Coloboma, Ocular, Autosomal Dominant |
|
Growth delay, Ventriculomegaly |
OMIM:120200 |
| Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Hydrocephalus, Myelomeningo... |
ORPHA:2369 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
| Split Cord Malformation |
|
Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening... |
ORPHA:573278 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Pineal cyst, Prominent nasal tip, Failure to thrive, Ve... |
ORPHA:513456 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Growth delay |
OMIM:616084 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Recurrent upper respiratory tract infections, Growth ... |
OMIM:308205 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Increased CSF lactate, Growth delay, Failure to thrive, Ventriculomegaly |
OMIM:617248 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Patent ductus arteriosus, Myelomeningocele, Failure to thrive |
OMIM:306955 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Epistaxis |
ORPHA:137667 |
| African Trypanosomiasis |
|
Abnormality of the menstrual cycle, Abnormality of the endocrine system, Myelopathy, Weight loss,... |
ORPHA:3385 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Gaucher Disease |
|
Hydrocephalus, Short stature, Ventriculomegaly, Delayed puberty |
ORPHA:355 |
| Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocep... |
ORPHA:805 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Anteverted nares, Supernumerary nipple, Depressed nasal bridge, Mesom... |
OMIM:601803 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Depressed nasal bridge |
ORPHA:309282 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Short nasal bridge, Ventriculomegaly |
OMIM:253280 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Hydrocephalus, Chronic rhinitis |
ORPHA:667 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Wide nose, Short stature, Recurrent upper respiratory tract infectio... |
ORPHA:580 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Sotos Syndrome |
|
Hypospadias, Phimosis, Cryptorchidism, Patent ductus arteriosus, Decreased fertility, Hydrocele t... |
ORPHA:821 |
| Loeys-Dietz Syndrome 1 |
|
Patent ductus arteriosus, Hydrocephalus |
OMIM:609192 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Short stature |
ORPHA:363700 |
| Loeys-Dietz Syndrome 2 |
|
Patent ductus arteriosus, Hydrocephalus |
OMIM:610168 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
| Craniofacial Microsomia 1 |
|
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum |
OMIM:164210 |
