Plin1-Related Familial Partial Lipodystrophy |
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Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... |
ORPHA:280356 |
Intellectual Developmental Disorder, Autosomal Recessive 59 |
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Aggressive behavior |
OMIM:617323 |
Congenital Generalized Lipodystrophy |
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Bone cyst, Hepatomegaly, Hyperinsulinemia, Lipodystrophy, Clitoral hypertrophy, Polycystic ovarie... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 3 |
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Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Insulin resista... |
OMIM:604367 |
Non-Functioning Pituitary Adenoma |
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Anemia of inadequate production, Impotence, Decreased fertility in males, Central adrenal insuffi... |
ORPHA:91349 |
Morbid Obesity And Spermatogenic Failure |
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Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Insulin resistan... |
OMIM:615703 |
Trichotillomania |
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Hair-pulling |
OMIM:613229 |
Akt2-Related Familial Partial Lipodystrophy |
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Hyperlipidemia, Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Hypertr... |
ORPHA:79085 |
Lipe-Related Familial Partial Lipodystrophy |
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Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Abnormal labia majora mor... |
ORPHA:435660 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Functioning Gonadotropic Adenoma |
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Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... |
ORPHA:79084 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Complete Androgen Insensitivity Syndrome |
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Blind vagina, Tall stature, Primary amenorrhea, Acne, Bilateral cryptorchidism, Increased antimul... |
ORPHA:99429 |
Panic Disorder 1 |
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Anxiety |
OMIM:167870 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
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Anxiety |
OMIM:614346 |
Familial Hyperprolactinemia |
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Amenorrhea, Infertility, Osteopenia, Hemorrhagic ovarian cyst, Oligomenorrhea, Osteoporosis, Meno... |
ORPHA:397685 |
Cidec-Related Familial Partial Lipodystrophy |
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Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomen... |
ORPHA:435651 |
Isolated Follicle Stimulating Hormone Deficiency |
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Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... |
ORPHA:52901 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Müllerian Aplasia And Hyperandrogenism |
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Increased serum testosterone level, Abnormal vagina morphology, Hypoplasia of the uterus, Thick e... |
ORPHA:247768 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Obsessive-Compulsive Disorder |
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Anxiety, Skin-picking |
OMIM:164230 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Ambiguous genitalia, female, Alopecia, Decreased circulating cortisol level, Premature thelarche,... |
ORPHA:90795 |
Partial Androgen Insensitivity Syndrome |
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Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Autism, Susceptibility To, 20 |
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Impaired social interactions |
OMIM:618830 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavio... |
ORPHA:401901 |
Mccune-Albright Syndrome |
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Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Cholestasis, Hepatocellular adenoma, I... |
ORPHA:562 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Increased body weight, Por... |
ORPHA:264580 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Impotence, Eunuchoid habitus, Cleft palate, Abnormality of the dentition, Primary amenorrhea, Sec... |
ORPHA:432 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
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Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipose tissue, Progressiv... |
OMIM:608709 |
Intellectual Developmental Disorder, Autosomal Recessive 52 |
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Aggressive behavior |
OMIM:616887 |
Autosomal Recessive Spastic Paraplegia Type 64 |
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Gait disturbance, Aggressive behavior |
ORPHA:401810 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Androgen Insensitivity Syndrome |
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Labial hypoplasia, Blind vagina, Inguinal hernia, Sparse axillary hair, Absent facial hair, Eleva... |
OMIM:300068 |
47,Xyy Syndrome |
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Increased serum testosterone level, Cryptorchidism, Tall stature, Micropenis, Hypospadias, Oligos... |
ORPHA:8 |
46,Xy Sex Reversal 11 |
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Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
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Unsteady gait, Self-biting |
OMIM:619988 |
46,Xy Partial Gonadal Dysgenesis |
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Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Hemoglobin D Disease |
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Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Premature Ovarian Failure 7 |
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Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs... |
OMIM:612964 |
Pparg-Related Familial Partial Lipodystrophy |
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Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Hyperuricemia, Polycystic o... |
ORPHA:79083 |
Syndromic X-Linked Intellectual Disability 7 |
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Hypoplasia of penis, Tooth malposition, Micropenis, Sparse body hair, Hypogonadism, Abnormality o... |
ORPHA:85274 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, T... |
ORPHA:90794 |
Brunner Syndrome |
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Self-injurious behavior, Aggressive behavior, Low frustration tolerance |
OMIM:300615 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
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Self-injurious behavior, Steppage gait |
OMIM:613641 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Sensorineural hearing impairment, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic ... |
ORPHA:3085 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hepatomegaly, Hepatocellular adenoma, Polycystic ovaries, Increased body weight, Dysmenorrhea, Sp... |
ORPHA:79240 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Pne... |
ORPHA:2298 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Aromatase Deficiency |
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Delayed epiphyseal ossification, Ambiguous genitalia, female, Hyperlipidemia, Type II diabetes me... |
ORPHA:91 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... |
OMIM:614841 |
Lipodystrophy, Familial Partial, Type 2 |
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Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... |
OMIM:151660 |
Preeclampsia |
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Abnormality of the hepatic vasculature, Chronic kidney disease, Small for gestational age, Abnorm... |
ORPHA:275555 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Dysmenorrhea, Insulin resistan... |
ORPHA:2348 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Hirsutism, Abnormal endometrium morphology, Metrorrhagia, Per... |
ORPHA:314478 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language |
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Inability to walk, Aggressive behavior |
OMIM:620038 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Hemiplegia, Ataxia, Mental deterioration, Abnormal pyramidal sign, Gait disturbance, Tremor, Spas... |
OMIM:614561 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Telangiectasia, Hepatomegaly, Flexion contracture, Osteoporosis, Elevated hepatic transaminase, L... |
OMIM:615381 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Oromandibular dystonia, Clumsiness, Impulsivity, Cognitive impairment, Depression, Abnormal pyram... |
ORPHA:216873 |
Ataxia-Telangiectasia |
|
Telangiectasia of the skin, Premature graying of hair, Type II diabetes mellitus, Mucosal telangi... |
ORPHA:100 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior |
OMIM:607417 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
Developmental And Epileptic Encephalopathy 31 |
|
Difficulty walking, Inability to walk, Self-injurious behavior |
OMIM:616346 |
Primary Lipodystrophy |
|
Angina pectoris, Hyperlipidemia, Pancreatitis, Lipoatrophy, Type II diabetes mellitus, Splenomega... |
ORPHA:90970 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Disproportion... |
OMIM:615300 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Acr... |
ORPHA:280365 |
Episodic Ataxia, Type 1 |
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Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal fibrosis, Dysmenorr... |
ORPHA:370 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Self-mutilation |
OMIM:137580 |
Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Glucose intolerance, Hypoplasia of the uterus, Hyperinsulinemia,... |
ORPHA:785 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Lipodystrophy,... |
OMIM:608594 |
Hepatic Adenomas, Familial |
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Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma |
OMIM:142330 |
Gonadoblastoma |
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Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... |
ORPHA:206484 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... |
ORPHA:85292 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Constipation, Decreased circulating androgen concentration, Abnormal external genitalia, Dispropo... |
ORPHA:95699 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia |
OMIM:607250 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Osteopenia, Primary amenorrhea, ... |
OMIM:615363 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Cleft upper lip, Cleft palate, Inguinal her... |
ORPHA:96181 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Lipodystrophy,... |
OMIM:269700 |
Rabson-Mendenhall Syndrome |
|
High palate, Reduced subcutaneous adipose tissue, Hypertrichosis, Abnormality of the dentition, A... |
ORPHA:769 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Failure to thrive, Testicular atrophy, Decreased serum testosterone concentratio... |
OMIM:305400 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Depression, Mental deterioration, Myoclonus, Babinski sign, Tremor, Emotional lability, A... |
OMIM:615362 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Donohue Syndrome |
|
Nail dysplasia, Wide mouth, Gingival overgrowth, Hyperinsulinemia, Precocious puberty, Hypertrich... |
OMIM:246200 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Insulin resistance, Cir... |
ORPHA:79086 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Tall stature, Abnormality of male external genitalia, Elevated circulating luteiniz... |
OMIM:400044 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... |
OMIM:232700 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Osteoporosis, Gout, Impaired glucose t... |
OMIM:610947 |
Ovarian Dysgenesis 2 |
|
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... |
OMIM:300510 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Depression, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tr... |
OMIM:619491 |
Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... |
OMIM:128235 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Micropenis, Small for gestational age, Hypospadias, Vaginal neoplasm, D... |
ORPHA:1916 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Thin vermilion border, Sparse body hair, Truncal obesity, Decreased testicular... |
ORPHA:261483 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Amed Syndrome, Digenic |
|
Failure to thrive, Hypoplasia of the uterus, Leukopenia, Adrenal hypoplasia, Hyperpigmentation of... |
OMIM:619151 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Tall stature, Oligospermia, Long penis, Male infertility, Acne, Abnormal hair... |
ORPHA:3000 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Galactokinase Deficiency |
|
Sensorineural hearing impairment, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for ge... |
ORPHA:79237 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Decreased circulating IgG level, Premature ventricular contraction, Fr... |
OMIM:602668 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Failure to thrive, Hepatomegaly, Cleft palate, Splenomegaly, Hepatosplenomegaly, Intrahepatic bil... |
OMIM:614866 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Satoyoshi Syndrome |
|
Amenorrhea, Alopecia universalis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypop... |
ORPHA:3130 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608636 |
Autism |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:209850 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Transaldolase Deficiency |
|
Wide mouth, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Thin vermilion... |
OMIM:606003 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sparse eyebrow, Clitoral hypoplasia, Pyloric stenosis, Omphalocele, Hypoplastic labia majora, Ana... |
OMIM:618419 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Temple Syndrome |
|
Joint hypermobility, Flexion contracture, Small for gestational age, Maturity-onset diabetes of t... |
OMIM:616222 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Cleft palate, Joint contracture of the hand, Hypo... |
OMIM:214110 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Renal agenesis, Unila... |
OMIM:601076 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Woodhouse-Sakati Syndrome |
|
Anodontia, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to gr... |
ORPHA:3464 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Excessive insulin response to glucagon test, Large for gestationa... |
ORPHA:324575 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Falls, Memory impairment, Sh... |
ORPHA:412066 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Self-injurious behavior, Aggressive behavior |
OMIM:617270 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Hepatomegaly,... |
ORPHA:363400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism, Thick eyebrow |
OMIM:309585 |
Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, External genital hypoplasia, Renal agenesis, Abnormality of the kidney, R... |
OMIM:615993 |
Bardet-Biedl Syndrome 5 |
|
Obesity, External genital hypoplasia, Micropenis, Hypogonadism |
OMIM:615983 |
Hyperostosis Frontalis Interna |
|
Elevated circulating alkaline phosphatase concentration, Irregular menstruation, Hyperostosis fro... |
OMIM:144800 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dystonia, Irrit... |
OMIM:612126 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Aggressive behavior |
OMIM:618221 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Hepatomegaly, Renal interstitial amyloid deposits, Proteinuria, P... |
ORPHA:85443 |
Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Obesity, Hypogonadism |
OMIM:615988 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Macroorchidism, Flexion contracture, Resting tremor, Babinski sign, Parkins... |
OMIM:300055 |
Kennerknecht syndrome |
|
High palate, Abdominal obesity, Malrotation of colon, Hypoplasia of the uterus, Hypodontia, Renal... |
OMIM:600908 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... |
OMIM:300869 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Bardet-Biedl Syndrome 12 |
|
Abnormality of the kidney, Obesity, Hypogonadism |
OMIM:615989 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... |
OMIM:202010 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Cognitive impairment, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Oligomenorrhea, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mell... |
OMIM:613877 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Complement deficiency, Decreased serum comp... |
ORPHA:449395 |
Seckel Syndrome 5 |
|
High palate, Hypodontia, Oligodontia, Clitoral hypertrophy, Cryptorchidism, Selective tooth agenesis |
OMIM:613823 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Neutral Lipid Storage Disease With Myopathy |
|
Sensorineural hearing impairment, Hepatomegaly, Elevated circulating creatine kinase concentratio... |
OMIM:610717 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abnormal libido, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue d... |
ORPHA:189439 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Depression, Tremor, Spasticity, Apraxia, Dystonia, Dementia |
OMIM:615889 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Decreased circulat... |
ORPHA:171706 |
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 |
X-Linked Intellectual Disability, Cilliers Type |
|
Failure to thrive, Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic ... |
ORPHA:163971 |
Zellweger Syndrome |
|
High palate, Failure to thrive, Abnormality of the tongue, Malabsorption, Hepatomegaly, Hypospadi... |
ORPHA:912 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:261534 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Satoyoshi Syndrome |
|
Amenorrhea, Alopecia universalis, Malabsorption, Hypoplasia of the uterus, Alopecia, Diarrhea, Mi... |
OMIM:600705 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Frag... |
ORPHA:2228 |
Bangstad Syndrome |
|
Ataxia, EEG abnormality, Hyperinsulinemia, Increased circulating cortisol level, Abnormality of t... |
ORPHA:1227 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Rigidity, Hemolytic anemia, Tremor, Dystonia |
OMIM:615010 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
High palate, Hypertrichosis, Precocious puberty, Hyperinsulinemia, Small for gestational age, Dia... |
OMIM:262190 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency, Hypogonadism, Obesity |
OMIM:615987 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, O... |
OMIM:610628 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Hernia of the abdominal wall, Eczema, Aplasia/Hypoplasia of the testes, Obes... |
ORPHA:3055 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Diarrhea... |
ORPHA:85450 |
Retinitis Pigmentosa |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hyperinsulinemia, Type II diabet... |
ORPHA:791 |
Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Truncal ataxia, Memory impairment, Gait disturbance, Difficulty walking, G... |
ORPHA:98764 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cognitive impairme... |
ORPHA:314632 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Inability to walk, Aggressive behavior, Self-mutilation |
OMIM:616269 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... |
ORPHA:79262 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy, Short mandibular condyles |
OMIM:264270 |
Congenital Fibrinogen Deficiency |
|
Abnormality of the subungual region, Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, ... |
ORPHA:335 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
X-Linked Intellectual Disability, Van Esch Type |
|
Increased circulating gonadotropin level, Failure to thrive, Type II diabetes mellitus, Decreased... |
ORPHA:163976 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Diffu... |
ORPHA:276575 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Bifid scrotum, Micropenis, Perineal hypospadias,... |
ORPHA:199310 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Self-injurious behavior |
OMIM:618339 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adeno... |
ORPHA:79259 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... |
OMIM:301077 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Diffu... |
ORPHA:276580 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... |
OMIM:615238 |
Rudiger Syndrome |
|
Bicornuate uterus, Inguinal hernia, Micropenis, Ovarian cyst, Flexion contracture, Ureterovesical... |
OMIM:268650 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Cleft palate, Micropenis, Small for gestat... |
OMIM:300148 |
46,Xy Sex Reversal 4 |
|
High palate, Anal atresia, Sex reversal, Hypoplasia of the uterus, Cleft palate, Hypergonadotropi... |
OMIM:154230 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
N-Acetylaspartate Deficiency |
|
Truncal ataxia, Unsteady gait, Self-mutilation |
OMIM:614063 |
Folate Malabsorption, Hereditary |
|
Ataxia, Leukopenia, Athetosis, Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytope... |
OMIM:229050 |
Cednik Syndrome |
|
Nephrotic syndrome, Abnormality of the dentition, Optic atrophy, Proteinuria, Hypogonadism, Abnor... |
ORPHA:66631 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... |
ORPHA:306692 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... |
ORPHA:465508 |
Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility |
ORPHA:1643 |
Woodhouse-Sakati Syndrome |
|
Anodontia, Hypoplasia of the uterus, Decreased serum testosterone concentration, Abnormal T-wave,... |
OMIM:241080 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Frasier Syndrome |
|
Nephrotic syndrome, Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, S... |
ORPHA:347 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... |
ORPHA:98762 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Osteoporosis, Pathologic fracture, Hypoglycemia... |
OMIM:307030 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling |
OMIM:616393 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hirsutism, Ovarian cyst, Hypovolemia, Hemorrhagic ovarian cys... |
ORPHA:64739 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Coffin-Siris Syndrome 9 |
|
High palate, Sparse scalp hair, Hypertrichosis, Hypoplasia of the uterus, Hypoplastic fifth finge... |
OMIM:615866 |
Creutzfeldt-Jakob Disease |
|
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... |
OMIM:123400 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Elevated circulating alk... |
ORPHA:400 |
Developmental And Epileptic Encephalopathy 59 |
|
Inability to walk, Self-injurious behavior |
OMIM:617904 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility, Inguinal hernia |
OMIM:261550 |
Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Dystonia, Irritabilit... |
OMIM:606438 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Amenorrhea, Hirsutism, Adrenal overactivity, Premature pubarche, Increased circulating androgen c... |
OMIM:145295 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... |
OMIM:615483 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the dentition, Abnormality of the kidney, Renal cyst,... |
OMIM:615982 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Seckel Syndrome 1 |
|
High palate, Dental malocclusion, Cleft palate, Hypospadias, Enamel hypoplasia, Clitoral hypertro... |
OMIM:210600 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia |
ORPHA:94124 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Elevated hepatic transaminase, Secondary amenorrhea, Insulin-resi... |
OMIM:268020 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Ab... |
ORPHA:1772 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Depression, Dysdiadochok... |
OMIM:604326 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Increased serum testosterone level, Ambiguous genitalia, Aplasia of the... |
OMIM:618901 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Depression, Mental deterioration, Dysdiadochokinesis, Abnormal pyramidal sign, Park... |
OMIM:213600 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619528 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Poor eye contact, Poor fine motor coordination, Maturity-onset diabetes of th... |
ORPHA:254531 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Congenital diaphragmatic hern... |
OMIM:601186 |
H Syndrome |
|
Amenorrhea, Recurrent fractures, Histiocytosis, Micropenis, Hepatosplenomegaly, Camptodactyly, Li... |
ORPHA:168569 |
Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Cognitive impairment, Depression, Babinski sign, Rigidity, Parkinsonism, Head tremor... |
ORPHA:101109 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Thin vermilion border, Primary amenorrhea, Tachycardia, Optic dis... |
OMIM:619737 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor |
OMIM:141500 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Apathy, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Depression... |
ORPHA:240085 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Primary amenorrhea, Decreased serum leptin, Recurrent pneumonia, Decreased testicular... |
OMIM:614962 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Ankle clonus, Babinski sign... |
OMIM:159550 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephrotic syndrome, Cryptorchidism, Nephropathy, Type I diabetes mellitus, Proteinuria, Hypertens... |
ORPHA:1192 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Abnormal hair quantity, Hypogonadism, Obesity, Low posterior hairline, Abnormal test... |
ORPHA:2233 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated c... |
OMIM:618187 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
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Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
C Syndrome |
|
High palate, Wide mouth, Thick anterior alveolar ridges, Accessory oral frenulum, Hepatomegaly, R... |
OMIM:211750 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones, Irregular menstruation, Overgrowth, Shyness, Polycystic ov... |
OMIM:616831 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, High palate, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Sp... |
OMIM:110100 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Elevated cir... |
OMIM:208920 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
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Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity, Dystonia, Dementia |
OMIM:605909 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Igg4-Related Submandibular Gland Disease |
|
Complement deficiency, Enlarged lacrimal glands, Enlargement of parotid gland, Increased circulat... |
ORPHA:449432 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Dilated cardiomyopathy |
ORPHA:2229 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Cryptorchidism,... |
ORPHA:2849 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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High palate, Hepatomegaly, Optic disc pallor, Clitoral hypertrophy, Brushfield spots, Prolonged n... |
OMIM:214100 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Writ... |
ORPHA:36899 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Decreased body weight, Primary amenorrhea, Elevated circulating follic... |
OMIM:616185 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Huntington Disease-Like 1 |
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Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordinat... |
OMIM:603218 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... |
ORPHA:90283 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Chorea, Benign Hereditary |
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Gait disturbance, Anxiety, Chorea |
OMIM:118700 |
Alstrom Syndrome |
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Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy... |
OMIM:203800 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
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Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyp... |
ORPHA:457059 |
46,Xx Gonadal Dysgenesis |
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Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Sparse pu... |
ORPHA:243 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Primary amenor... |
ORPHA:2232 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pancytopenia |
OMIM:604416 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Alopecia, Increased proportion autoreactive unrespon... |
OMIM:615559 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Inguinal hernia, Sparse axillary hair, Male pseudohermaphroditism, Abs... |
ORPHA:754 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... |
OMIM:619868 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
48,Xxyy Syndrome |
|
Infertility, Taurodontia, Type II diabetes mellitus, Hypoplasia of penis, Cleft palate, Open bite... |
ORPHA:10 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... |
OMIM:614842 |
Carney Complex |
|
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Increased circulating insulin-like... |
ORPHA:1359 |
Melioidosis |
|
Splenic abscess, Prostatitis, Cellulitis, Osteoarthritis, Brain abscess, Abnormality of the splee... |
ORPHA:31202 |
Sheehan Syndrome |
|
Impotence, Dyspareunia, Central adrenal insufficiency, Constipation, Decreased circulating cortis... |
ORPHA:91355 |
Mehmo Syndrome |
|
External genital hypoplasia, Hypoplasia of penis, Micropenis, Downturned corners of mouth, Diabet... |
ORPHA:85282 |
Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Osteolysis |
ORPHA:494 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Neutrophilia, Hepatomegaly, Hemothorax, Diarrhea, He... |
ORPHA:99827 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Neuroendocrine neoplasm, Hyperaldosteronism, Abnormal libido, Increased body weight, Macronodular... |
ORPHA:189427 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... |
OMIM:609441 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Craniofacial dyston... |
ORPHA:71517 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... |
ORPHA:3044 |
Distal Monosomy 10P |
|
Ectopic anus, Anal atresia, Hypoplastic toenails, Hypoplasia of penis, Cleft palate, Abnormal fin... |
ORPHA:1580 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Supraventricular arrhythmia, Multiple joint contractures, Fragile teeth, Alopecia, Hypergonadotro... |
ORPHA:2959 |
46,Xx Sex Reversal 4 |
|
Ambiguous genitalia, Penoscrotal hypospadias, Clitoral hypertrophy, Micropenis |
OMIM:617480 |
Multiple Symmetric Lipomatosis |
|
Joint stiffness, Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resi... |
ORPHA:2398 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Diffuse pancreatic isle... |
ORPHA:276556 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
Glutathione Synthetase Deficiency |
|
Ataxia, Intention tremor, Hemolytic anemia, Neutropenia, Spastic tetraparesis |
OMIM:266130 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Premature thelarche, Osteopenia, Osteolysis involving bones of the lower limbs, O... |
ORPHA:371428 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Tall stature, Hypospadias, Elevated circulating luteinizing horm... |
OMIM:400045 |
Werner Syndrome |
|
Slender build, Telangiectasia of the skin, Joint stiffness, Type II diabetes mellitus, Lipoatroph... |
ORPHA:902 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Glycosuria, Gout, Biliary tract abnormality, Pancreatic hypopl... |
OMIM:137920 |
Wilson-Turner Syndrome |
|
Thick eyebrow, Hypogonadotropic hypogonadism, Truncal obesity, Cryptorchidism, Thin upper lip ver... |
ORPHA:3459 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Abnormal C-peptide level, ... |
ORPHA:79299 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Fibrous Dysplasia Of Bone |
|
Elevated circulating alkaline phosphatase concentration, Ovarian cyst, Thin bony cortex, Abnormal... |
ORPHA:249 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... |
OMIM:618723 |
Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Wide mouth, Failure to thrive, High, narrow palate, Absent eyebrow, Thin vermilion border, Thin e... |
ORPHA:2707 |
Aica-Ribosuria Due To Atic Deficiency |
|
Wide mouth, Fused labia minora, Optic atrophy, Clitoral hypertrophy, Thin upper lip vermilion |
OMIM:608688 |
Bent Bone Dysplasia Syndrome 1 |
|
Hirsutism, Gingival overgrowth, Clitoral hypertrophy, Hepatosplenomegaly |
OMIM:614592 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Hip contracture, Gastroesophageal reflux, Multicystic kidney dysplasia, Long p... |
ORPHA:85201 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Babinski sign, Parkinsonism, Chorea... |
OMIM:618093 |
Cowden Syndrome 1 |
|
Hydrocele testis, High palate, Narrow mouth, Thyroiditis, Lymphopenia, Hyperthyroidism, Ovarian c... |
OMIM:158350 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Cognitive impairment, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticit... |
OMIM:615768 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233300 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Perrault Syndrome 1 |
|
High palate, Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233400 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Insulin resistance, Small for gestational age, Osteoporosis, Truncal obesity, ... |
ORPHA:73272 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... |
ORPHA:2410 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid factor positive,... |
ORPHA:3261 |
Xp22.13P22.2 Duplication Syndrome |
|
High palate, Congenital diaphragmatic hernia, Sparse hair, Truncal obesity, Umbilical hernia, Pol... |
ORPHA:284180 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ... |
|