| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Cardiomyopathy, Dilated, 1R |
|
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... |
OMIM:613424 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Left Ventricular Noncompaction 10 |
|
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... |
OMIM:601493 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Left Ventricular Noncompaction 8 |
|
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... |
OMIM:613642 |
| Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... |
OMIM:604169 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... |
OMIM:612158 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Atrial Standstill |
|
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... |
ORPHA:1344 |
| Congenital Factor X Deficiency |
|
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Intramuscular hem... |
ORPHA:328 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... |
OMIM:616501 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... |
OMIM:273250 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... |
ORPHA:1916 |
| Congenital Fibrinogen Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Abnormal u... |
ORPHA:335 |
| Leydig Cell Hypoplasia |
|
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... |
ORPHA:755 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... |
OMIM:233420 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre... |
OMIM:194072 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
| Cardiomyopathy, Dilated, 1S |
|
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... |
OMIM:613426 |
| Klippel-Trénaunay Syndrome |
|
Congestive heart failure, Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Inter... |
ORPHA:90308 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... |
ORPHA:90797 |
| Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... |
OMIM:601214 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida |
ORPHA:63260 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... |
OMIM:614841 |
| Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
| Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Neonatal de... |
OMIM:619167 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... |
OMIM:614837 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... |
OMIM:278850 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
| Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock |
ORPHA:49566 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Heart Block, Congenital |
|
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... |
OMIM:234700 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
| Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Obesity, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:615300 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus, Omphalocele |
ORPHA:2736 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... |
ORPHA:90793 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
| Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Camptodactyly,... |
ORPHA:432 |
| Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology |
ORPHA:247768 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:168558 |
| Isolated Posterior Meningocele |
|
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele |
ORPHA:268810 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:289548 |
| Amed Syndrome, Digenic |
|
Failure to thrive, Hypoplasia of the uterus |
OMIM:619151 |
| Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary |
ORPHA:3109 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... |
ORPHA:99827 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina |
OMIM:146255 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... |
OMIM:154230 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Hypospadias, Rectovaginal fistula |
OMIM:617466 |
| Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... |
ORPHA:90796 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
| Meckel Syndrome 12 |
|
Arthrogryposis multiplex congenita, Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... |
OMIM:202010 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Vasculitis, Gingival bleeding, Internal h... |
ORPHA:906 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Inguinal hernia, Aplasia of the vagina |
OMIM:271520 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Melena, Petechiae, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, E... |
ORPHA:340 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... |
ORPHA:90794 |
| Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Superficial Siderosis |
|
Abnormal bleeding, Internal hemorrhage, Subarachnoid hemorrhage, Persistent bleeding after trauma... |
ORPHA:247245 |
| Marburg Hemorrhagic Fever |
|
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Capillary leak, Hypotensio... |
ORPHA:99826 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect... |
ORPHA:391665 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
| Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Clitoral hypoplasia, Omphalocele, Hypoplasia of the uterus, Small for gestati... |
OMIM:618419 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Inguinal hernia, Aplasia of the vagina |
ORPHA:457284 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovo... |
OMIM:309801 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Inguinal hernia, Bicornuate uterus, Cryptorchidism, Hypoplasia o... |
OMIM:601186 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Bifid penis, Inguinal hernia, Bifid scrotum, Omphalocele, ... |
ORPHA:322 |
| Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Hypotension, Internal hemorrhage |
ORPHA:244242 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism |
OMIM:614527 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, U... |
OMIM:618280 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... |
OMIM:241080 |
| Yellow Fever |
|
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Reduced left ventricular ejection fra... |
ORPHA:99829 |
| Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis |
OMIM:614083 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... |
ORPHA:3464 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... |
OMIM:201750 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Inguinal hernia, Cervical insufficiency, Cigarette-paper scars, Cryptorchidism, Uterine prolapse,... |
OMIM:130050 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypospadias, Inguinal hernia, Aplasia of t... |
OMIM:135900 |
| Neu-Laxova Syndrome 1 |
|
Camptodactyly, Yellow subcutaneous tissue covered by thin, scaly skin, Bifid uterus, Cryptorchidi... |
OMIM:256520 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus |
OMIM:137920 |
| Tuberous Sclerosis Complex |
|
Hypertension, Cardiac rhabdomyoma, Internal hemorrhage |
ORPHA:805 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Aplasia of the uterus, Precocious puberty, Failure to thrive, Cryptorchidism, Small ... |
OMIM:194190 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Umbilical ... |
OMIM:107480 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Bifid uterus, Hypospadias, Omphalocele |
OMIM:236680 |
| Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Camptodactyly of finger, Uterine rupture |
ORPHA:60030 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Elbow flexion contracture, Aplasia of the uterus, Sm... |
OMIM:276820 |
| Okamoto Syndrome |
|
Bifid uterus, Omphalocele |
ORPHA:2729 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Aplasia of the upper vagina, Hypospadias, Inguinal hernia, Campt... |
OMIM:601803 |
| Schinzel-Giedion Syndrome |
|
Neural tube defect, Umbilical hernia |
ORPHA:798 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Abnormal heart valve morphology, Aplasia/Hypoplasia of the abdominal wall musc... |
ORPHA:286 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93924 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
ORPHA:572333 |
| Norrie Disease |
|
Cachexia, Failure to thrive, Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Peters-Plus Syndrome |
|
Hypospadias, Decreased body weight, Clitoral hypoplasia, Hypoplasia of the vagina, Umbilical hern... |
OMIM:261540 |
| Peters Plus Syndrome |
|
Hypospadias, Inguinal hernia, Clitoral hypoplasia, Umbilical hernia, Cryptorchidism, Hypoplasia o... |
ORPHA:709 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
