| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Persistence of hemoglobin F, Abnormal bone structure, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification |
ORPHA:3319 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperlysinuria, Hyperactivity |
OMIM:238700 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Hartnup Disorder |
|
Hyperactivity, Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Emotional la... |
OMIM:234500 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
| Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness, Hyperglycinuria |
OMIM:605899 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hypersplenism, Hepatosplenomegaly, Renal cyst, Redu... |
OMIM:619902 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
| Hyperprolinemia, Type I |
|
Prolinuria, Hyperactivity, Aggressive behavior, Hydroxyprolinuria, Hyperglycinuria |
OMIM:239500 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Hepatomegaly, Reticulocytosis |
OMIM:613977 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Increased urinary disaccharide excretion |
OMIM:248510 |
| Morm Syndrome |
|
Abnormality of the kidney, Hyperactivity, Aggressive behavior, Micropenis |
ORPHA:75858 |
| Beta-Thalassemia |
|
Anemia, Hepatomegaly, Thrombocytopenia, Irritability, Abnormal hemoglobin, Splenomegaly, Microcyt... |
ORPHA:848 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Agitation |
OMIM:309548 |
| Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... |
ORPHA:85445 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Agitation |
ORPHA:100973 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Irritability, Increased level of hippuric acid in urine, Atte... |
OMIM:261600 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo... |
ORPHA:96369 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... |
OMIM:619827 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Polyphagia,... |
ORPHA:251004 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Delayed vertebral ossification, Enlarged kidney... |
OMIM:608022 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Increased level of gamma-aminobutyri... |
OMIM:271980 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Leukopenia, Anemia, Neutropenia, Nephrotic syndrome, Enlarged kidney, Neph... |
OMIM:617303 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ... |
OMIM:618849 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Impulsivity, Attention deficit hyperactivity disorder, Hydron... |
OMIM:620141 |
| Beta-Thalassemia Intermedia |
|
Proximal tubulopathy, Splenomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Eryt... |
ORPHA:231222 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-injurious behavior |
OMIM:620023 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Anxiety, Impulsivity, Abnormal eating behavior |
ORPHA:101039 |
| Kaposiform Lymphangiomatosis |
|
Anemia, Enlarged kidney, Abnormal spleen morphology, Hepatosplenomegaly, Osteolysis, Multiple ren... |
ORPHA:464329 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Neutropenia, Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, P... |
OMIM:232220 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Dense calvaria, Hepatomegaly, Cardiomegaly, Splenomegaly, Hep... |
OMIM:252920 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Asplenia |
OMIM:615415 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Abnormal fear/anxiety-related behavior, Aggressive behavior, Abnormal aggressive, ... |
ORPHA:3077 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly |
ORPHA:163596 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... |
OMIM:608836 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental... |
OMIM:232200 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Tyrosinemia, Type I |
|
Anemia, Enlarged kidney, Glomerular sclerosis, Hypophosphatemic rickets, Hepatomegaly, Nephrocalc... |
OMIM:276700 |
| H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Osteolysis, Histiocytosis, Microp... |
ORPHA:168569 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Urethral atresia, Hydronephrosis |
OMIM:314390 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dys... |
OMIM:208540 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Subperiosteal bone formation, Osteopenia |
OMIM:618188 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Polysplenia, Cystic renal dysplasia, Hepatomegaly, Craniosynostosis |
OMIM:200995 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal myeloid le... |
ORPHA:79259 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Anisopoikilocytosis, Reduced hemoglobin A, Decreased mean corpus... |
ORPHA:231214 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Nephrotic syndrome, Enlarged kidney, Hepatosplenomegaly, Thrombocytopenia, Pr... |
ORPHA:505248 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... |
OMIM:194080 |
| Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... |
ORPHA:231226 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias |
OMIM:250790 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal bone ossification, Enlarged kidney, Ureteral hypoplasia, Hepa... |
ORPHA:79328 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Pancytopenia, Persis... |
OMIM:260400 |
| Lead Poisoning |
|
Tubulointerstitial nephritis, Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis... |
ORPHA:330015 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Happy deme... |
OMIM:615873 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, Microcytic anemia |
ORPHA:98791 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia |
OMIM:613091 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Mucopolysacchariduria, Osteopenia, Hepatomegaly, Cardiomegaly, Craniosynostosis,... |
OMIM:252500 |
| Niemann-Pick Disease Type C |
|
Aggressive behavior, Apathy, Disinhibition, Hepatosplenomegaly, Narcolepsy, Bone-marrow foam cell... |
ORPHA:646 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus |
OMIM:612651 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Self-injurious behavior, Emotional lability, Narcolepsy, Polyphagia, Anxiety... |
ORPHA:293987 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Cardiomegaly, Renal cortical cysts, Pancreatic hyperplasia... |
OMIM:130650 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Self-injurious behavior, Recurrent urinary tract infections, Abnormality of the kidney, H... |
ORPHA:847 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia, Anxiety |
ORPHA:464453 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Ogden Syndrome |
|
Enlarged kidney, Polycystic kidney dysplasia, Polycythemia, Global glomerulosclerosis, Dysphagia,... |
OMIM:300855 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... |
ORPHA:760 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Persistence of hemoglobin F |
OMIM:617101 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperactivity, Hyperechogenic kidneys, Emotional ... |
OMIM:620047 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Chronic neutropenia, Multicystic kidney dysplasia, Bifid ureter, Renal malrotatio... |
ORPHA:500095 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Splenomegaly, Congenital megaureter, Enlarged kidney, Poly... |
ORPHA:116 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Urinary incontinence, Narcolepsy |
ORPHA:314404 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Renal agenesis, Ery... |
ORPHA:124 |
| Meacham Syndrome |
|
Enlarged kidney, Accessory spleen, Horseshoe kidney |
OMIM:608978 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
| Thymoma |
|
Leukemia, Glomerulonephritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell apl... |
ORPHA:99867 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Renal agenesis, Hypochromic microcytic anemia, HbH hemoglobin... |
OMIM:301040 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Enlarged kidney, Polysplenia, Renal agenesis, Horseshoe kidney, Hepatomegaly, Cardiomegaly |
OMIM:306955 |
| African Trypanosomiasis |
|
Urinary incontinence, Aggressive behavior, Apathy, Hepatosplenomegaly, Narcolepsy, Hepatomegaly, ... |
ORPHA:3385 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
| Leprechaunism |
|
Enlarged kidney, Long penis, Hepatomegaly, Enlarged ovaries, Nephrocalcinosis, Hypercalciuria |
ORPHA:508 |
| Argininemia |
|
Hyperactivity, Oroticaciduria, Diaminoaciduria, Hepatomegaly, Irritability |
OMIM:207800 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Renal angiomyolipoma, Stage 5 chroni... |
ORPHA:805 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Nephroblastoma, Enlarged kidney, Polysplenia, Two carpal ossification centers present at birth, R... |
OMIM:312870 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Histidinemia |
|
Histidinuria, Hyperactivity |
ORPHA:2157 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Patent urachus, Penoscrotal hypospadias, Accessory spleen, Micropenis |
OMIM:618280 |
