Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Microcephaly 12, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:616080 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia |
OMIM:615411 |
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive |
|
Perisylvian polymicrogyria |
OMIM:615752 |
Lissencephaly 1 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia |
OMIM:607432 |
Microlissencephaly |
|
Polymicrogyria, Simplified gyral pattern, Subcortical heterotopia, Pachygyria, Lissencephaly, Per... |
ORPHA:1083 |
Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Gonadal dysgenesis, Neural tube defect, Type II lissencephaly |
OMIM:615041 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypoglycemia, Hypospadias |
OMIM:201910 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... |
ORPHA:90793 |
Lissencephaly, X-Linked, 1 |
|
Agyria, Lissencephaly, Pachygyria, Gray matter heterotopia |
OMIM:300067 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia |
ORPHA:101029 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias |
OMIM:201710 |
Anencephaly 2 |
|
Median cleft palate, Cleft maxillary alveolar ridge, Median cleft lip, Anencephaly |
OMIM:619452 |
Schisis Association |
|
Encephalocele, Anal atresia, Small for gestational age, Spina bifida, Unilateral cleft lip, Anenc... |
ORPHA:63862 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Distal Deletion 13Q |
|
Encephalocele, Anal atresia, Ambiguous genitalia, Holoprosencephaly, Anencephaly, Microcephaly, A... |
ORPHA:1590 |
Hydrolethalus |
|
Cryptorchidism, Bifid uvula, Hydrocephalus, Unilateral cleft lip, Absent septum pellucidum, Submu... |
ORPHA:2189 |
Lissencephaly 3 |
|
Polymicrogyria, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Periventricular lamin... |
OMIM:611603 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Emotional lability, Adrenal hyperplasia, Agitation, Increased circulating cortisol level, Anxiety... |
OMIM:219080 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Cleft palate, Anencephaly, Ectopic anus, Non-midline cleft lip |
ORPHA:2476 |
Joubert Syndrome 13 |
|
Pachygyria |
OMIM:614173 |
Diprosopus |
|
Cleft palate, Non-midline cleft lip, Anencephaly |
ORPHA:1681 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Premature adrenarche,... |
ORPHA:90791 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Lissencephaly, Microcephaly, Cerebel... |
ORPHA:1528 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Absent septum pellucidum, Optic nerve hypoplasia, Lissencephaly, Cerebella... |
OMIM:218670 |
RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
Meckel Syndrome, Type 10 |
|
Micropenis, Bifid uvula, Occipital encephalocele, Anencephaly, Cleft palate, Cerebellar hypoplasi... |
OMIM:614175 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Obsolete: Primary Pigmented Nodular Adrenocortical Disease |
|
Emotional lability, Adrenal hyperplasia, Abnormal libido, Diabetes mellitus, Increased circulatin... |
ORPHA:189439 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul... |
OMIM:615954 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Hydrolethalus Syndrome 2 |
|
Cleft palate, Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Emotional lability, Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level,... |
OMIM:615830 |
Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency, Anencephaly |
ORPHA:1048 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged kidney, Polycystic ovaries, Insulin r... |
ORPHA:90301 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Congenital Herpes Simplex Virus Infection |
|
Microcephaly, Hydranencephaly |
ORPHA:293 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Bile duct proliferation... |
OMIM:611134 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Hydranencephaly, Cerebellar agenesis, Holoprosencephaly, Cerebellar hypoplasia, Da... |
OMIM:617967 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Adrenogenital syndrome, Male pseudo... |
OMIM:202110 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
49,Xxxxy Syndrome |
|
Decreased testicular size, Cryptorchidism, Hypogonadism, Pulmonary embolism, Holoprosencephaly, T... |
ORPHA:96264 |
Neural Tube Defects, Susceptibility To |
|
Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly, Cle... |
ORPHA:1908 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Emotional lability, Abnormal libido, Hyperaldosteronism, Renal cell carcinoma, Abnormal response ... |
ORPHA:189427 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Penoscrotal transposition, Microcephaly, Small for gestational age, Cryptorchidism, Irregular den... |
OMIM:619148 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Polycystic kidney dysplasia, Renal cortical adenoma, Parathyroid carcinoma, Papillary renal cell ... |
OMIM:145001 |
Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Abnormality of the uterus, Vesicoureteral refl... |
OMIM:617805 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microlissencephaly, Simplified gyral pattern, Hypoplasia of the uterus, Optic nerve hypoplasia, V... |
OMIM:617914 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Cleft palate, Microcephaly, Hydranencephaly |
OMIM:601355 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Occipital encephalocele, Cleft palate, Anencephaly, Cleft upper lip |
OMIM:611561 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Bile duct proliferation, Anencephaly, Cleft palate, Intestinal malrot... |
OMIM:603194 |
Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Renal insufficiency... |
OMIM:615382 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Occipital encephalocele, Cleft palate, Lobulated tongue, Arrhinenc... |
OMIM:614815 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Bifid uvula, Hypoplasia of the uterus, Vaginal atresia, Microcepha... |
OMIM:616258 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... |
OMIM:613496 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... |
ORPHA:786 |
Hartnup Disorder |
|
Emotional lability, Neutral hyperaminoaciduria, Hyperactivity, Attention deficit hyperactivity di... |
OMIM:234500 |
Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Hypogonadism, Renal cyst, External genital hypoplasia, Renal insu... |
OMIM:615993 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Abnormality of the urinary system, Adrenogenital syndrom... |
OMIM:103900 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Perineal hypospadias, Adrenal hyperplasia, Impaired cortisol response to corticotropin releasing ... |
OMIM:201810 |
Spermatogenic Failure 65 |
|
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... |
OMIM:619712 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin, Athetosis, Polydipsia, Nephr... |
ORPHA:369929 |
Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Ambiguous genitalia, Enlarged kidney |
OMIM:613885 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Decreased te... |
OMIM:202010 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Neonatal death, Stillbirth, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... |
OMIM:236500 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... |
OMIM:620056 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Lissencephaly, Abn... |
OMIM:604317 |
Trisomy X |
|
Anxiety, Attention deficit hyperactivity disorder, Renal hypoplasia/aplasia, Secondary amenorrhea... |
ORPHA:3375 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypercalciuria, Po... |
ORPHA:251274 |
Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Irritability, Impulsivity, Lethargy, Aggressive behavior, Hyperglyci... |
OMIM:605899 |
Chudley-Mccullough Syndrome |
|
Polymicrogyria, Gray matter heterotopia |
OMIM:604213 |
Spermatogenic Failure 56 |
|
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... |
OMIM:619515 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Polydipsia, Secretory adrenocortical adenoma, De... |
ORPHA:403 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Hypercalciuria, Polydipsia, Polyuria, Decreased circulat... |
OMIM:613677 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Holoprosencephaly, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Aplasia/H... |
ORPHA:2570 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Parathyroid hypoplasia, Diabetes mellitus, Hypoparat... |
ORPHA:2237 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Ataxia |
OMIM:617562 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Increased circulating ACTH level, Decreased circulating cortisol level, Fema... |
ORPHA:90790 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... |
ORPHA:529970 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Ectopic kidney, Renal dysplasia, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus... |
ORPHA:2578 |
Microhydranencephaly |
|
Hydranencephaly, Pachygyria, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the brainstem, Ag... |
OMIM:605013 |
Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Enlarged kid... |
ORPHA:85445 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... |
OMIM:301059 |
Familial Hyperprolactinemia |
|
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst |
ORPHA:397685 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Primary amenorrhea, Gonadal dysgenesis with female ap... |
ORPHA:168563 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Dysmenorrhea, Dyspareunia, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix m... |
ORPHA:3411 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Dysgyria, Gray matter heterotopia |
ORPHA:352682 |
Vacterl/Vater Association |
|
Anal atresia, Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genital... |
ORPHA:887 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corti... |
OMIM:619902 |
Denys-Drash Syndrome |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Ambiguous genitalia... |
OMIM:194080 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
Spermatogenic Failure 54 |
|
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... |
OMIM:619379 |
Spermatogenic Failure 58 |
|
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... |
OMIM:620084 |
Spermatogenic Failure 30 |
|
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Polymicrogyria, Hydrocephalus, Hydranencephaly, Cleft palate, Hypoplasia of the brainstem, Microc... |
OMIM:225790 |
Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Primary amenorrhea, Fused l... |
ORPHA:95699 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Increased circu... |
ORPHA:3453 |
Spermatogenic Failure 39 |
|
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... |
OMIM:618643 |
Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Maternal diabetes, Cryptorchidism, Renal hypoplasia/aplasia, Long pe... |
ORPHA:1988 |
Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration |
OMIM:618709 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:404 |
Spermatogenic Failure 50 |
|
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Meckel Syndrome, Type 6 |
|
Hydrocephalus, Bile duct proliferation, Occipital encephalocele, Abnormal internal genitalia, Ane... |
OMIM:612284 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Hydroxyprolinuria, Prolinuria, Aggressive behavior, Hyperglycinuria |
OMIM:239500 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Cryptorchidism, External genital hypoplasia, Hypogonadism, Renal cyst |
OMIM:615982 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Trisomy 18 |
|
Esophageal atresia, Cryptorchidism, Anal atresia, Abnormal morphology of female internal genitali... |
ORPHA:3380 |
Classic Galactosemia |
|
Oligomenorrhea, Delayed puberty, Decreased fertility in females, Cryptorchidism, Gait disturbance... |
ORPHA:79239 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... |
OMIM:263200 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:620196 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 7 |
|
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:612997 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Decreased gl... |
ORPHA:730 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Polydipsia, Glucocortocoid-insensitive primary ... |
ORPHA:231580 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Cleft palate, Non-midline cleft lip, Absent gallbladde... |
ORPHA:1335 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Elevated circulating f... |
OMIM:612964 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proximal renal tubular acidosis, Proteinuria, Unilateral renal dysplasia, Nephrocalcinosis, Chron... |
OMIM:146255 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Ureterovesical stenosis, Bicornuate uterus |
OMIM:268650 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus, Male hypogonadism, Decreased serum... |
ORPHA:432 |
Pandas |
|
Enuresis, Abnormal fear/anxiety-related behavior, Agoraphobia, Emotional lability, Claustrophobia... |
ORPHA:66624 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Pelvis-Shoulder Dysplasia |
|
Thick anterior alveolar ridges, Ambiguous genitalia, Hydranencephaly, Hydrocephalus, Spina bifida... |
ORPHA:2839 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Morm Syndrome |
|
Hyperactivity, Abnormality of the kidney, Aggressive behavior, Micropenis |
ORPHA:75858 |
Caudal Regression Syndrome |
|
Anal atresia, Cryptorchidism, Ambiguous genitalia, Hypertension, Arrhinencephaly, Orofacial cleft |
ORPHA:3027 |
Orofaciodigital Syndrome Vi |
|
Polymicrogyria, High palate, Incomplete cleft of the upper lip, Porencephalic cyst, Cleft palate,... |
OMIM:277170 |
Joubert Syndrome 20 |
|
Inability to walk, Self-mutilation, Aggressive behavior, Renal cyst |
OMIM:614970 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Attention deficit hyperactivity disorder, Male infertility, Long penis, Macroorchidism, Oligosper... |
ORPHA:3000 |
Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... |
OMIM:300510 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased glomerular filtration rate... |
OMIM:618061 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Bicornuate uterus |
OMIM:263210 |
Tuberous Sclerosis Complex |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Depression, Hepatic cysts, Renal angiomyo... |
ORPHA:805 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... |
ORPHA:3077 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polymicrogyria, Micropenis, Hydrocephalus, Accessory oral frenulum, Anencephaly, Occipital mening... |
OMIM:616546 |
46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Decreased serum testosterone concentrat... |
OMIM:273250 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testosterone level, Hydroce... |
ORPHA:96181 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
Renal Cysts And Diabetes Syndrome |
|
Abnormal renal morphology, Abnormality of the kidney, Diabetes mellitus, Ureteropelvic junction o... |
OMIM:137920 |
Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Band Heterotopia |
|
Polymicrogyria, Subcortical band heterotopia, Gray matter heterotopia |
OMIM:600348 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612310 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
OMIM:614841 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic ... |
OMIM:618078 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Unilateral renal agenesis, Hypoplasia of the uterus, Azoospermia, Bicornuate uter... |
OMIM:601076 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Renal insufficiency, Nonketotic hyp... |
OMIM:608836 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Cryptorchidism, Premature ovarian insufficiency, Micropenis, Abno... |
ORPHA:1916 |
Cushing Disease |
|
Emotional lability, Adrenal hyperplasia, Increased circulating ACTH level, Impaired glucose toler... |
ORPHA:96253 |
46,Xy Sex Reversal 3 |
|
Elevated circulating luteinizing hormone level, Penoscrotal hypospadias, Ambiguous genitalia, Cli... |
OMIM:612965 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Nephrolithiasis, Obstructive azoospermia, Spermatocele, Male infertility |
OMIM:301060 |
Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Abnormality of the ovary, Hypoplasia of the uterus, Cleft palate, Abnormal va... |
ORPHA:247768 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Arrhinencephaly, Aqueductal stenosis, Abnormality of the uterus |
ORPHA:1788 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... |
OMIM:617442 |
Fryns Syndrome |
|
Cleft palate, Cleft upper lip, Esophageal atresia, Cryptorchidism, Ectopic pancreatic tissue, Hyp... |
OMIM:229850 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Decreased testicular size, Agenesis of cerebellar vermis, Micropenis, Hydr... |
OMIM:615287 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
OMIM:618117 |
Ovarian Dysgenesis 9 |
|
Delayed puberty, Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulatio... |
OMIM:619665 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bicornuate uterus, Bifid uvula, Hydrocephalus |
OMIM:258320 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Phenylketonuria |
|
Increased level of hippuric acid in urine, Self-mutilation, Hyperactivity, Anxiety, Attention def... |
OMIM:261600 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Meningocele, Hydranencephaly, Spina bifida, Short hard palate, Porencephalic cy... |
ORPHA:1393 |
Meckel Syndrome |
|
Encephalocele, Cryptorchidism, Aplasia/Hypoplasia of the tongue, Ambiguous genitalia, Hydrocephal... |
ORPHA:564 |
Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Hydrocephalus, Median cleft lip and palate, Hypoplastic nipples, Holoprosenc... |
OMIM:269860 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Renal cortical cysts, Glycosuria, Hepatomegaly, Glutaric aciduria, P... |
OMIM:231680 |
Estrogen Resistance |
|
Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Primary ame... |
OMIM:615363 |
Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Anal atresia, Myelomeningocele, Anencephaly |
ORPHA:63260 |
Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... |
OMIM:617565 |
Perrault Syndrome 4 |
|
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... |
OMIM:615300 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:755 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Cleft palate, Smooth philtrum, Microcephaly, Cerebellar hypoplasia, Cere... |
OMIM:249000 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Inability to walk, Hepatomegaly, Glutaric aciduria, Dysphagia, Lacti... |
ORPHA:26791 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diabetes mellitus, Increased circulating cortisol level, Medullary thyroid carcinoma, Increased u... |
ORPHA:99889 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... |
OMIM:614837 |
Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity, Increased urinary disaccharide excretion |
OMIM:248510 |
Iniencephaly |
|
Encephalocele, Spinal dysraphism, Anal atresia, Duodenal atresia, Myelomeningocele, Spina bifida,... |
ORPHA:63259 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... |
ORPHA:2975 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Cleft palate, Anencephaly, Cleft upper lip, Hypospadias |
OMIM:313850 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, ... |
OMIM:613095 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Hepatomegaly |
OMIM:608776 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Neonatal hypoglycemia, Cryptorchidism, Adrenocortical cytomegaly, Nephrocal... |
OMIM:130650 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Premature ovar... |
OMIM:619203 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Cryptorchidism, Abnormal morphology of... |
ORPHA:754 |
Ring Chromosome 13 Syndrome |
|
Anal atresia, High palate, Micropenis, Ambiguous genitalia, Hypoplasia of the gallbladder, Urogen... |
ORPHA:96176 |
Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Anxiety, Ataxia |
OMIM:618970 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Mckusick-Kaufman Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Cryptorchidism, Hydrometrocolpos, Hydroureter, Trans... |
OMIM:236700 |
Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Polycystic kidney dysplasia, Cryptorchidism, Clitoral hypertrophy, Hepa... |
OMIM:214110 |
Distal Triplication 15Q |
|
Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Dilatation of the renal p... |
ORPHA:314588 |
Juvenile Huntington Disease |
|
Progressive cerebellar ataxia, Hyperactivity, Ataxia, Irritability, Bradykinesia, Gait ataxia, De... |
ORPHA:248111 |
Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Renal cyst, Diabetes mellitus, Vaginal atresia, Hypospadias |
OMIM:605231 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Gonadoblastoma, Renal insufficiency, Nephropathy, Streak ovary, Abnormality of th... |
OMIM:194072 |
Caudal Duplication Anomaly |
|
Uterus didelphys, Ureteral duplication |
OMIM:607864 |
Vacterl With Hydrocephalus |
|
Esophageal atresia, Cryptorchidism, Anal atresia, Hydrocephalus, Spina bifida, Tracheoesophageal ... |
ORPHA:3412 |
Congenital Factor Vii Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... |
ORPHA:327 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity, Agitation |
OMIM:309548 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Cleft palate, Narrow mouth, Microcephaly, Carious teeth, Hypothyroidism, Chol... |
ORPHA:567 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... |
ORPHA:251510 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Adrenal gland dysgenesis, Absent septum pellucidum, Anencephaly, Clef... |
OMIM:236680 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity, Agitation |
ORPHA:100973 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Increased level of gamma-aminobutyric acid in urine, Ataxia, Anxiety, Self-injurio... |
OMIM:271980 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:617690 |
Brain Small Vessel Disease 2 |
|
Polymicrogyria, Subcortical heterotopia |
OMIM:614483 |
Landau-Kleffner Syndrome |
|
Emotional lability, Hyperactivity, Steppage gait, Anxiety, Attention deficit hyperactivity disord... |
ORPHA:98818 |
Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... |
ORPHA:983 |
Estrogen Resistance Syndrome |
|
Primary amenorrhea, Breast hypoplasia, Hypoplasia of the uterus, Hyperinsulinemia, Glucose intole... |
ORPHA:785 |
Trisomy 17P |
|
Polycystic kidney dysplasia, Hydronephrosis, Hypoplasia of penis, Urethral valve, Urethral stenosis |
ORPHA:261290 |
X-Linked Adrenoleukodystrophy |
|
Increased circulating ACTH level, Gait disturbance, Hyperactivity, Neurogenic bladder, Disinhibit... |
ORPHA:43 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab... |
ORPHA:99429 |
Cousin Syndrome |
|
Hydrocephalus, Ambiguous genitalia, male, Hydranencephaly, Cleft palate, Microglossia, Alveolar r... |
OMIM:260660 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea |
ORPHA:2795 |
Branchiootorenal Syndrome 1 |
|
Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Unilateral renal agenes... |
OMIM:113650 |
Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the uterus, Microcephaly, Abnorm... |
ORPHA:3130 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Personality disorder, Hyperactivity, Falls |
ORPHA:2382 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Horseshoe kidney, Renal Fanconi syndro... |
ORPHA:93111 |
Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... |
OMIM:616212 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:609425 |
Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Perisylvian polymicrogyria |
ORPHA:300573 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hepato... |
ORPHA:157 |
Ovarian Fibrothecoma |
|
Abnormal endometrium morphology, Abnormality of the ovary, Gonadal calcification, Metrorrhagia, O... |
ORPHA:314478 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Ureteral atresia, R... |
OMIM:208540 |
Prune Belly Syndrome |
|
Recurrent urinary tract infections, Decreased testicular size, Cryptorchidism, Hydroureter, Abnor... |
ORPHA:2970 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Renal hypoplasia, Renal cyst, Hypospadias |
OMIM:614091 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft palate, Cryptorchidism, Hypogonadotropic hypogonadism, Cleft lip |
OMIM:612370 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Microphthalmia With Limb Anomalies |
|
High palate, Cryptorchidism, Hydrocephalus, Cleft palate, Macrodontia, Failure to thrive, Long ph... |
ORPHA:1106 |
Caudal Duplication |
|
Cryptorchidism, Ureteral duplication, Renal hypoplasia/aplasia, Abnormal penis morphology, Uterus... |
ORPHA:1756 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
ORPHA:90796 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Leprechaunism |
|
Fasting hypoglycemia, Hyperaldosteronism, Nephrocalcinosis, Enlarged kidney, Central hypothyroidi... |
ORPHA:508 |
Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Small pituitary gland,... |
OMIM:614880 |
Phelan-Mcdermid Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Unsteady gait, Vesicoureteral reflux, Agg... |
OMIM:606232 |
Obsolete: Early-Onset Schizophrenia |
|
Emotional lability, Polyphagia, Impairment in personality functioning, Suicidal ideation, Abnorma... |
ORPHA:96369 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cryptorchidism, Hyperactivity, Progressive cerebellar ataxia, Unsteady gait, Bipolar affective di... |
ORPHA:485350 |
Perrault Syndrome 3 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:614129 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Inability to walk, Hyperactivity, Self-injurious behavior, Nephrolithiasis, Aggressive behavior, ... |
OMIM:620023 |
Lissencephaly 5 |
|
Type II lissencephaly, Subcortical band heterotopia, Gray matter heterotopia |
OMIM:615191 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polycystic kidney dysplasia, Tubulointerstitial nephritis, Renal insufficiency, Hepatomegaly, Myo... |
ORPHA:228308 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cortical microcysts, Polycystic kidney dysplasia, Hepatosplenomegaly, Cryptorchidism, Renal... |
OMIM:614866 |
Distal Deletion 12Q |
|
Polycystic kidney dysplasia, Hydronephrosis, Self-mutilation, Micropenis, Hyperactivity, Ectopic ... |
ORPHA:96149 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Esophageal atresia, Anal atresia, Intestinal malrotation, Rectal atre... |
ORPHA:2538 |
Glycogen Storage Disease Ia |
|
Fasting hypoglycemia, Delayed puberty, Proteinuria, Enlarged kidney, Decreased glomerular filtrat... |
OMIM:232200 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Short upper lip, Cardiomyopathy, Gingival recession, Thin vermil... |
ORPHA:3472 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... |
OMIM:616950 |
Floating-Harbor Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Dilatation of the renal pelvis, Cryptorchidism, Neph... |
ORPHA:2044 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Primary amenorrhea, Renal dysplasia, Vaginal atresia, Bicornuate uterus, Bilateral r... |
OMIM:191830 |
Functioning Gonadotropic Adenoma |
|
Enlarged polycystic ovaries, Hydrocephalus, Pituitary gonadotropic cell adenoma, Decreased female... |
ORPHA:91348 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Abnormality of the kidney, Hypothyroidism, Hyperglycemia, Transient neonatal d... |
ORPHA:99886 |
Neu-Laxova Syndrome 1 |
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Short umbilical cord, Swollen lip, Cryptorchidism, Primary microcephaly, Hydranencephaly, Spina b... |
OMIM:256520 |
H Syndrome |
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Hepatosplenomegaly, Delayed puberty, Decreased testicular size, Abnormality of the kidney, Microp... |
ORPHA:168569 |
Doors Syndrome |
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Ambiguous genitalia, Widely spaced teeth, Cleft palate, Narrow palate, Microcephaly, Broad alveol... |
ORPHA:79500 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Polyphagia, Delayed puberty, Proteinuria, Enlarged kidney, Macroscopic hematuria, Membranoprolife... |
ORPHA:251004 |
Meckel Syndrome, Type 9 |
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Multicystic kidney dysplasia, Ambiguous genitalia |
OMIM:614209 |
Spermatogenic Failure 2 |
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Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Proteinuria, Inability to walk, Enlarged kidney, Hepatomegaly, Nephrotic s... |
OMIM:617303 |
Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Attention deficit hyperactivity disorder, Hypoplasia of the uterus |
OMIM:619151 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Athetosis, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia |
ORPHA:2512 |
Arima Syndrome |
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Polycystic kidney dysplasia, Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, ... |
OMIM:243910 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity, Hypothyroidism |
OMIM:619927 |
Hypoplasminogenemia |
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Hydrocephalus, Abnormality of the ovary, Periodontitis, Gingival overgrowth, Duodenal ulcer, Ging... |
ORPHA:722 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Diabetes mellitus, Hepatomegaly, ... |
OMIM:610199 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Polyphagia, Aggressive behavior, Hyperinsulinemia |
ORPHA:329249 |
Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the ureter, Unicornuate uterus, Uterus didelphys, Bic... |
OMIM:200980 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest |
OMIM:608022 |
Type 1 Diabetes Mellitus |
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Polyphagia, Diabetes mellitus, Hyperglycemia, Polydipsia, Polyuria |
OMIM:222100 |
Pallister-Hall Syndrome |
|
Hypopituitarism, Ambiguous genitalia, Bifid uvula, Central adrenal insufficiency, Cleft palate, M... |
ORPHA:672 |
Hemimegalencephaly |
|
Polymicrogyria, Pachygyria, Gray matter heterotopia |
ORPHA:99802 |
Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
Duplication Of Urethra |
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Unilateral renal hypoplasia, Coronal hypospadias, Uterus didelphys, Recurrent urinary tract infec... |
ORPHA:237 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Postprandial hyperglycemia, Clitoral h... |
OMIM:262190 |
Mody |
|
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormality of the kidney, Abnormal circulating ins... |
ORPHA:552 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Uterus didelphys, Hypothyroidism, Hypoplasia of penis |
ORPHA:2491 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Neonatal hypoglycemia, Hypernatriuria, Elevated circulating follicle stimulating... |
ORPHA:289548 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cryptorchidism, Tooth agenesis, Micropenis, Primary amenorrhea, Cleft palate, Cleft upper lip, Ag... |
OMIM:147950 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Glycogen Storage Disease Ib |
|
Delayed puberty, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly... |
OMIM:232220 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Primary amenorrhea, Cleft palate, Cleft upper lip, Hypogonadotropic h... |
OMIM:244200 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Primary ameno... |
OMIM:158330 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Aggressive behavior, Hyperactivity, Broad-based gait, Precocious puberty |
ORPHA:457260 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Cryptorchidism, Hyperactivity, Hypogonadism, Unilateral renal agenesis, Self-biting, Gonadal dysg... |
ORPHA:3306 |
Alg9-Cdg |
|
Hydronephrosis, Hypoplasia of the ovary, Enlarged kidney, Hypoplasia of the bladder, Hypoplastic ... |
ORPHA:79328 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Emotional lability, Delayed puberty, Decreased testicular size, Cryptorchidism, Micropenis, Hypog... |
OMIM:300354 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney, Hepatic cysts |
OMIM:615415 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Delayed puberty, Proteinuria, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, ... |
ORPHA:79259 |
Endocrine-Cerebroosteodysplasia |
|
Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microphallus, Enlarged kidney, Small scr... |
OMIM:612651 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Neonatal hypoglycemia, Hypernatriuria, Elevated circulating follicle stimulating... |
ORPHA:168558 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Gonadal dysgenesis, male, Renal cyst |
OMIM:231060 |
Lumbar Syndrome |
|
Cryptorchidism, Renal duplication, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bif... |
ORPHA:83628 |
Alg3-Cdg |
|
Macroglossia, High palate, Subcortical cerebral atrophy, Hypoplasia of the pons, Cardiomyopathy, ... |
ORPHA:79321 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Gait disturbance |
ORPHA:3270 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis, Ambiguous genitalia, Enlarged kidney, Renal dysplasia |
OMIM:613091 |
Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Cryptorchidism, Glycosuria, Chronic kidney disease, Beta 2-mi... |
ORPHA:97362 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy |
ORPHA:1909 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Premature ovarian insufficiency, Ambiguous genitalia, Ataxia, Primary amenorrhea... |
ORPHA:243 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Progressive cerebellar ataxia, Male infertility |
ORPHA:276183 |
46,Xy Sex Reversal 4 |
|
Hydronephrosis, Agonadism, Ureteropelvic junction obstruction, Hypoplasia of the uterus, Hypergon... |
OMIM:154230 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Goiter, Graves disease, Hyperactivity, Irritability, Increased circulating free T3, D... |
OMIM:275000 |
Limb Body Wall Complex |
|
Encephalocele, Short umbilical cord, Abnormal intestine morphology, Myelomeningocele, Spina bifid... |
ORPHA:2369 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Reduced sperm motility, Coiled sperm flagella, Absent sperm flage... |
OMIM:618433 |
Gonadoblastoma |
|
Dysgerminoma, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Abnormality o... |
ORPHA:206484 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Dysmenorrhea, Small for gestational age, Cryptorchidism, Microphallus, Cleft palate, Small placen... |
ORPHA:397590 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Hyperactivity, Attention deficit ... |
ORPHA:8 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Aplas... |
OMIM:266810 |
Transketolase Deficiency |
|
Renal cyst, Attention deficit hyperactivity disorder, Hepatomegaly, Self-injurious behavior, Incr... |
ORPHA:488618 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Subependymal Nodular Heterotopia |
|
Polymicrogyria, Abnormality of neuronal migration, Gray matter heterotopia |
ORPHA:101030 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Beckwith-Wiedemann Syndrome |
|
Neonatal hypoglycemia, Enlarged kidney, Multiple renal cysts, Hepatomegaly, Hypothyroidism, Nephr... |
ORPHA:116 |
46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... |
OMIM:400045 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Decreased circulating follicle stimulating hormone concentration, Decre... |
OMIM:614842 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, External genital hypoplasia, Rena... |
OMIM:613390 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Ovarian cyst, Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Postprandial hyperglycemia, Irritability, Ketonuria, Lethargy, Ketotic hypoglycemia |
ORPHA:2089 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Testicular Agenesis |
|
Absent testis, Micropenis, Ambiguous genitalia, Urethrovaginal fistula, Urogenital sinus anomaly,... |
ORPHA:325124 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Enlarged kidney, Multiple renal cysts, Metrorrhagia, Pancreatic cysts, Spleno... |
ORPHA:464329 |
Vaginal Atresia |
|
Uterus didelphys, Cervicitis, Primary amenorrhea, Imperforate hymen, Transverse vaginal septum, V... |
ORPHA:65681 |
Short Rib-Polydactyly Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Multiple glomerular cysts, Urogenital sin... |
ORPHA:1505 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:616171 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney, Septate vagina, Bicornuate uterus, Male pseudohermaphroditism,... |
OMIM:608978 |
2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Cryptorchidism, Hyperactivity, Ataxia, Hypoplasia of penis, Self-injurious behavior |
ORPHA:228402 |
Exstrophy-Epispadias Complex |
|
Abnormality of the kidney, Renal duplication, Horseshoe kidney, Penoscrotal transposition, Cystoc... |
ORPHA:322 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... |
OMIM:278850 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the or... |
ORPHA:543 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enuresis nocturna, Polyphagia, Cryptorchidism, Hyperactivity,... |
OMIM:615873 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cryptorchidism, Cystic renal dysplasia, Hepatomegaly |
OMIM:613730 |
Chromosome 17Q12 Deletion Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Cryptorchidism, Aplasia of the uterus, Stage ... |
OMIM:614527 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Secondary amenorrhea, Abnormality of the Leydig cells, Micropenis, Elevated circu... |
OMIM:228300 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity |
ORPHA:101039 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia, Cryptorchidism |
ORPHA:1166 |
Aicardi-Goutières Syndrome |
|
Raynaud phenomenon, Degeneration of the striatum, Micropenis, Hypothyroidism, Multifocal cerebral... |
ORPHA:51 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus, Proteinuria, Abnormality of the uterus |
ORPHA:2143 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
46,Xy Sex Reversal 7 |
|
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... |
OMIM:233420 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Self-mutilation, Aggressive behavior, Hyperactivity |
OMIM:615516 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:612716 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Tyrosinemia, Type I |
|
Nephrocalcinosis, Enlarged kidney, Renal Fanconi syndrome, Renal insufficiency, Pancreatic islet-... |
OMIM:276700 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney, Hydrocele testis |
ORPHA:276280 |
Lipodystrophy, Familial Partial, Type 3 |
|
Oligomenorrhea, Maternal diabetes, Primary amenorrhea, Polycystic ovaries, Hyperinsulinemia, Hype... |
OMIM:604367 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Ataxia, Happy demeanor, Broad-based gait |
ORPHA:411515 |
Omodysplasia 2 |
|
Cryptorchidism, Micropenis, Dyspareunia, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys... |
OMIM:164745 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:615842 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Charge Syndrome |
|
Hypoparathyroidism, Labial hypoplasia, Cleft palate, Microcephaly, Hypothyroidism, Cleft upper li... |
OMIM:214800 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Dysphagia, Gait ataxia, Aggressive behavior, Impulsivity |
ORPHA:500180 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microlissencephaly, 4-layered lissencephaly, Abnormality of neuronal migration |
ORPHA:89844 |
Kallmann Syndrome |
|
Decreased testicular size, Cryptorchidism, Tooth agenesis, Abnormal morphology of female internal... |
ORPHA:478 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior, Imp... |
OMIM:620141 |
Congenital Bilateral Absence Of Vas Deferens |
|
Abnormal renal morphology, Obstructive azoospermia, Absent vas deferens, Male infertility, Oligos... |
ORPHA:48 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Renal potassium wasting, Self-biting, P... |
OMIM:618314 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Hepatosplenomegaly, Acute kidney... |
ORPHA:731 |
Glutathionuria |
|
Gray matter heterotopia |
OMIM:231950 |
Cln5 Disease |
|
Inability to walk, Hyperactivity, Ataxia, Unsteady gait, Anxiety, Dysdiadochokinesis, Aggressive ... |
ORPHA:228360 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ovotestis, Sex reversal, Adrenal gland agenesis, Renal agenesis, Hypos... |
OMIM:611812 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia |
ORPHA:3032 |
Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Anal atresia, Hypodontia, Neural tube defect, Cleft upper lip |
OMIM:119580 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased testicular size, Premature ovarian insufficiency, Micropenis, Hypogona... |
ORPHA:3464 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:613546 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hypogonadism, Hydrometrocolpos, Hydroureter, Vaginal atresia, Cystic renal dysplasia |
OMIM:615989 |
Igg4-Related Kidney Disease |
|
Enlarged kidney, Urethritis, Albuminuria, Sterile pyuria, Hydronephrosis, Proteinuria, Chronic ki... |
ORPHA:449395 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney, Pancreatic fibrosis |
OMIM:200995 |
Bardet-Biedl Syndrome 17 |
|