Autism, Susceptibility To, 20 |
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Impaired social interactions |
OMIM:618830 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Abnormal social behavior |
ORPHA:436151 |
46,Xx Testicular Difference Of Sex Development |
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Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Gonadoblastoma |
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Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
46,Xy Complete Gonadal Dysgenesis |
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Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Tetragametic Chimerism |
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Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Abnormal social behavior |
ORPHA:444002 |
Hsd10 Disease |
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Abnormal social behavior |
ORPHA:391417 |
Ovarian Fibroma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Aromatase Deficiency |
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Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Female Restricted Epilepsy With Intellectual Disability |
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Abnormal social behavior |
ORPHA:101039 |
Ovarian Fibrothecoma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
Satoyoshi Syndrome |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Lamb-Shaffer Syndrome |
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Abnormal social behavior |
ORPHA:530983 |
Müllerian Aplasia And Hyperandrogenism |
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Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
48,Xxxy Syndrome |
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Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, Abnormal social be... |
ORPHA:96263 |
Childhood Absence Epilepsy |
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Abnormal social behavior |
ORPHA:64280 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior |
ORPHA:1020 |
Fg Syndrome Type 1 |
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Cryptorchidism, Abnormal social behavior, Hypospadias, Small pituitary gland |
ORPHA:93932 |
Hypoplasminogenemia |
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Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormal social behavior |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Abnormal social behavior |
ORPHA:309263 |
Prader-Willi Syndrome Due To Translocation |
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Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon... |
ORPHA:177907 |
Metachromatic Leukodystrophy, Adult Form |
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Abnormal social behavior, Neoplasm of the gallbladder |
ORPHA:309271 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size |
OMIM:209900 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... |
ORPHA:363958 |
Mend Syndrome |
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Cryptorchidism, Abnormal social behavior |
ORPHA:401973 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Abnormal social behavior |
ORPHA:1675 |
Tuberous Sclerosis Complex |
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Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathyroid adenoma, Abnormal socia... |
ORPHA:805 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Abnormal social behavior |
ORPHA:314647 |
Turner Syndrome |
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Increased circulating gonadotropin level, Delayed early-childhood social milestone development, A... |
ORPHA:881 |
Mosaic Monosomy X |
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Increased circulating gonadotropin level, Delayed early-childhood social milestone development, A... |
ORPHA:99228 |
Monosomy X |
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Increased circulating gonadotropin level, Delayed early-childhood social milestone development, A... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Increased circulating gonadotropin level, Delayed early-childhood social milestone development, A... |
ORPHA:99413 |
Williams Syndrome |
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Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Polycysti... |
ORPHA:904 |
Niemann-Pick Disease Type C |
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Abnormal social behavior |
ORPHA:646 |