Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Dystonia 31 |
|
Arm dystonia, Dysphagia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized d... |
OMIM:619565 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Ab... |
ORPHA:247585 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... |
OMIM:267700 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... |
ORPHA:98798 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
OMIM:607250 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... |
OMIM:603553 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity |
OMIM:615703 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
ORPHA:94124 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... |
ORPHA:261529 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Osteoporosis, Hypo... |
ORPHA:398063 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Tremor, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gai... |
OMIM:208920 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Dystonia, Dysphagia, Gait imbalance, Elevated circulating creatine kinase concen... |
ORPHA:64753 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... |
OMIM:619271 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Increased mean corpuscu... |
OMIM:277410 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Dengue Fever |
|
Hypoproteinemia, Thrombocytopenia, Leukopenia, Lethargy |
ORPHA:99828 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... |
OMIM:616689 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... |
ORPHA:2169 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Broad-based gait, Hypoalbuminemia |
OMIM:618805 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... |
OMIM:603554 |
47,Xyy Syndrome |
|
Oligospermia, Hypospadias, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... |
ORPHA:8 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Rapid-Onset Dystonia-Parkinsonism |
|
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, ... |
ORPHA:71517 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ... |
OMIM:615234 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia, Aggressive behavior |
OMIM:608093 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... |
OMIM:300200 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Splenomegaly, Increased circulating ferritin concentrati... |
ORPHA:167 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... |
OMIM:616050 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hem... |
OMIM:611590 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... |
ORPHA:3077 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Slc35A1-Cdg |
|
Hypoxemia, Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia |
ORPHA:238459 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Osteopenia |
OMIM:608747 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Writer's cramp, Torticollis, Blepharospasm, Tremor, Torsion dystonia, Abnormal posturing, Depression |
OMIM:128100 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocy... |
OMIM:209950 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... |
ORPHA:182050 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Dysphagia, Opisthotonus, Inability to walk, Generalized dystonia, Tip-toe gait,... |
ORPHA:216866 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia |
ORPHA:79320 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, H... |
ORPHA:320391 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Attention deficit hyperactivity diso... |
OMIM:261600 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea... |
ORPHA:90362 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Dystonia, Dysphagia, Abnormal posturing |
OMIM:304700 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... |
OMIM:618849 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Tremor, Hyperactivity, Ataxia, Hypertriglyceridemia |
OMIM:615924 |
Fechtner syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:153640 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Aggressive behavior, Ataxia |
OMIM:300983 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:619470 |
Leishmaniasis |
|
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, ... |
ORPHA:507 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Inappropriate crying, Gait disturbance, Dystonia, Dysphagia, Bradykinesia, Resting tremor, Tituba... |
ORPHA:225147 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia, Transient hyperphenylalaninemia |
OMIM:612716 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Anemia, Hypoalbuminemia |
OMIM:608104 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... |
ORPHA:26793 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... |
ORPHA:248111 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficulty walking |
ORPHA:3198 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Dysphagia, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive p... |
ORPHA:2070 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:158061 |
Congenital Enterovirus Infection |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Ir... |
ORPHA:292 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Abnormal post... |
OMIM:614857 |
Nephrotic Syndrome, Type 14 |
|
Hypoalbuminemia, Ataxia, Lymphopenia, Hypertriglyceridemia |
OMIM:617575 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... |
OMIM:169400 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... |
OMIM:616860 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Aicardi-Goutieres Syndrome 9 |
|
Dystonia, Self-mutilation, Anemia, Osteoporosis, Hepatosplenomegaly, Irritability, Hypoalbuminemi... |
OMIM:619487 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Tremor, Decreased fertility |
OMIM:313200 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity |
ORPHA:100973 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... |
ORPHA:158048 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... |
ORPHA:86839 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Huntington Disease-Like 1 |
|
Gait disturbance, Dysmetria, Bradykinesia, Abnormal posturing, Gait ataxia, Depression |
ORPHA:157941 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholesterol concentration,... |
ORPHA:14 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume, Ataxia |
OMIM:616737 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Polyphagia, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:411515 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... |
ORPHA:1667 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Inability to walk, Hypoalbuminemia, Thrombocytopenia |
OMIM:617303 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk |
OMIM:618718 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia, Anemia |
ORPHA:2315 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Osteopenia |
OMIM:612562 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Head tremor, Hypergonadotropic hypogonadism, Intention tremor, Azoospermia |
OMIM:613724 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Falls, Personality disorder |
ORPHA:2382 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia |
OMIM:246700 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Exaggerated startle res... |
ORPHA:309246 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... |
ORPHA:98818 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia, Splenomegaly |
OMIM:235255 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Elevated circulating gamma-aminobuty... |
OMIM:271980 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ata... |
ORPHA:228360 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... |
ORPHA:64743 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Dystonia, Anisocytosis, Irritability, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, ... |
OMIM:618278 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Hypocholesterolemia, Osteopenia, Ataxia, Hypoalbuminemia |
OMIM:212065 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:540 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Unsteady gait, Inc... |
OMIM:619405 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Sm... |
ORPHA:330015 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
16Q24.3 Microdeletion Syndrome |
|
Thrombocytopenia, Dysphagia, Increased mean corpuscular volume |
ORPHA:261250 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Lathosterolosis |
|
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... |
OMIM:607330 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... |
OMIM:602668 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dysphagia, Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium conc... |
ORPHA:89842 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... |
OMIM:222470 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Avian Influenza |
|
Hypoxemia, Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbum... |
ORPHA:454836 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... |
ORPHA:300298 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absence of pubertal development... |
ORPHA:432 |
Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Abnormal eating behavior, Hyperactivity, Impulsivity, Anxiety |
ORPHA:101039 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Dysphagia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia |
ORPHA:500180 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... |
ORPHA:231222 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly |
ORPHA:1655 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... |
ORPHA:91351 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Abnormal cortical bone morphology |
OMIM:300831 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Depression, Impulsivity |
ORPHA:88616 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Osteoporosis, Persistence of hemo... |
ORPHA:231226 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia, Osteoporosis... |
ORPHA:231214 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... |
ORPHA:90041 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm |
OMIM:612650 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... |
OMIM:613807 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... |
ORPHA:485350 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Elevated circulating creatine kinase concentration, Hyperactivity, Aggressive behavior, Osteopenia |
OMIM:616809 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Gand Syndrome |
|
Hyperactivity, Inappropriate laughter |
OMIM:615074 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... |
ORPHA:88618 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait |
OMIM:617865 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
Stiff-Person Syndrome |
|
Opisthotonus, Agoraphobia, Anemia, Exaggerated startle response, Anxiety, Depression |
OMIM:184850 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Coronal craniosynostosis, Hyperactivity, Hypoalbuminemia |
OMIM:235510 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Hepatosplenomegaly, Inability to walk, Hypoalbuminemia, Thrombocytopenia |
ORPHA:505248 |
Tay-Sachs Disease |
|
Gait disturbance, Dystonia, Dysphagia, Dysmetria, Exaggerated startle response, Laryngeal dystoni... |
ORPHA:845 |
Al Amyloidosis |
|
Dysphagia, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbumi... |
ORPHA:85443 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Emotional lability, Irritabili... |
OMIM:608643 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Myopathy With Extrapyramidal Signs |
|
Leukocytosis, Dystonia, Elevated circulating creatine kinase concentration, Hypervalinemia, Extre... |
OMIM:615673 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... |
ORPHA:786 |
Syndromic Diarrhea |
|
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hypoplasia of th... |
ORPHA:84064 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... |
ORPHA:274 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:301013 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Perisylvian polymicrogyria, Hypoplasia of the pons, Anterior hypopi... |
ORPHA:280195 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Elevated circula... |
ORPHA:99826 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Weight loss, Hypogonadism, Abnormal testis morphology, Primary testicular failure, ... |
ORPHA:85450 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypokalemia, Polycythemia, Anemia, Hyperbilirubinemi... |
ORPHA:88673 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:36234 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Polyphagia, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotio... |
ORPHA:96369 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... |
ORPHA:37042 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Eisenmenger Syndrome |
|
Hypoxemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anem... |
ORPHA:97214 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Dysphagia, Happy demeanor, Gait imbalance, Inappropriate laughter, Abnormal eating behavior, Trem... |
ORPHA:98794 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:603585 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia, Limb dystonia |
ORPHA:363400 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:614935 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Anemia, Hypoalbuminemia |
ORPHA:67 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysphagia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Emotional lability... |
OMIM:610217 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... |
OMIM:235200 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... |
OMIM:616959 |
Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Abnormal bone ossification... |
ORPHA:79324 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Hypoalbuminemia |
ORPHA:367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response, Ataxia, Broad-based gait, Anxiety |
ORPHA:438216 |
Pediatric-Onset Graves Disease |
|
Mood swings, Polyphagia, Neutropenia in presence of anti-neutropil antibodies, Polydipsia, Cranio... |
ORPHA:525731 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior |
OMIM:300558 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention defic... |
ORPHA:1929 |
Alazami-Yuan Syndrome |
|
Hyperactivity |
OMIM:617126 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... |
OMIM:103050 |
Myoclonic-Astatic Epilepsy |
|
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal ... |
ORPHA:1942 |
2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Polyphagia, Self-injurious behavior, Hyperactivity, Ataxia |
ORPHA:228402 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Choking episodes, Hyperactivity, Ataxia, Emotional lability, Impulsiv... |
ORPHA:35069 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Aggressive behavior, Tremor, Hyperactivity, Gait ataxia |
OMIM:300354 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Anemia, Splenomeg... |
ORPHA:29073 |
Galloway-Mowat Syndrome 1 |
|
Dystonia, Ataxia, Hypoalbuminemia |
OMIM:251300 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Apathy, Exaggerated startle response |
OMIM:272750 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Gapo Syndrome |
|
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea |
ORPHA:2067 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing, Anemia |
ORPHA:71272 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... |
ORPHA:95699 |
Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Small for gestational age, Failure to thrive, Diabetes mellitus, Clitoral hypoplasi... |
OMIM:614813 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:300958 |
Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Splenomegaly, Irritability, Anxiety, Abn... |
ORPHA:2388 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Abnormal circulating creatine concentration, Self-mutilation, Hyperactivity,... |
ORPHA:52503 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia |
OMIM:614104 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati... |
ORPHA:2298 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... |
ORPHA:186 |
Juvenile Polyposis Syndrome |
|
Anemia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD3-positive T cells, Hyperacti... |
ORPHA:760 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Anemia, Hypoalbuminemia |
ORPHA:79396 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Thin bony cortex, Rickets, Anemia, Reduced bone... |
OMIM:613658 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia |
ORPHA:391307 |
Carney Complex |
|
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... |
ORPHA:1359 |
Primary Sclerosing Cholangitis |
|
Osteoporosis, Splenomegaly, Osteopenia, Hepatosplenomegaly, Hypoalbuminemia, Depression |
ORPHA:171 |
Castleman Disease |
|
Myelofibrosis, Anemia, Thrombocytopenia, Decreased mean corpuscular volume, Elevated circulating ... |
ORPHA:160 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Craniosynostosis, Hyperactivity, Ataxia, Depression, Bipolar affective d... |
OMIM:601853 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Sagittal craniosynostosis |
OMIM:618027 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder |
OMIM:614294 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Smith-Magenis Syndrome |
|
Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Head-banging |
OMIM:182290 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Weight loss, Erectile... |
ORPHA:465508 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Dense calvaria, Splenomegaly |
OMIM:252920 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Angelman Syndrome |
|
Dysphagia, Happy demeanor, Polyphagia, Self-injurious behavior, Aggressive behavior, Inappropriat... |
ORPHA:72 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... |
ORPHA:43 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Gait disturbance, Dystonia, Dysphagia, Acanthocytosis, Bradykinesia, Blepharospasm, Tremor, Hyper... |
OMIM:234200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:619055 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis |
OMIM:617718 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Dysphagia, Fatigable weakness of ske... |
ORPHA:166108 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... |
ORPHA:168491 |
Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Erectile dysfunction, Abnorma... |
ORPHA:206448 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Anemia, Hypoalbuminemia |
ORPHA:79076 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Chromosome 10Q26 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Craniosynostosis, Broad-based gait |
OMIM:609625 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, L... |
ORPHA:90363 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity |
OMIM:613684 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:600430 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... |
ORPHA:449291 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Angelman Syndrome |
|
Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, Broad-based gait |
OMIM:105830 |
Bloom Syndrome |
|
Oligospermia, Small for gestational age, Azoospermia, Male infertility, Diabetes mellitus, Premat... |
ORPHA:125 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Diabetes insipidus, Tremor, Diabetes mellitus, Hypothyroidism |
OMIM:222300 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Anxiety, Aggressive behavior, Ataxia |
OMIM:618430 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Attention deficit hyperactivity disorder, Osteoporosis, Neonatal hyperbilirubinemia |
ORPHA:73272 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Resting tremor, Primary amenorrhea, Premature ovarian i... |
OMIM:157640 |
Hyperlysinemia |
|
Dysphagia, Opisthotonus, Hypoornithinemia, Dysmetria, Craniosynostosis, Hyperammonemia, Tremor, H... |
ORPHA:2203 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Cri-Du-Chat Syndrome |
|
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... |
OMIM:123450 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Failure to thrive, E... |
OMIM:305400 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysphagia, Dysmetria, Abnormal circulating fatty-acid concentration, Hyperactiv... |
ORPHA:139396 |
Tay-Sachs Disease |
|
Apathy, Exaggerated startle response |
OMIM:272800 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting |
ORPHA:485405 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hyperactivity, Oral-pharyngeal dysphagia |
OMIM:610883 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity |
ORPHA:397973 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Dysphagia, Dense calvaria, Splenomegaly |
OMIM:252930 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia, Anemia |
ORPHA:2929 |
19P13.3 Microduplication Syndrome |
|
Self-injurious behavior, Hyperactivity, Irritability, Osteoporosis |
ORPHA:447980 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:610042 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Dense calvaria, Splenomegaly |
OMIM:252900 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... |
OMIM:619381 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance |
ORPHA:163681 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia |
OMIM:300486 |
Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |