Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Lymphoproliferative Syndrome 3 |
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Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Hypoparathyroidism, Familial Isolated, 2 |
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Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Increased ci... |
ORPHA:158057 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Autoinflammation With Infantile Enterocolitis |
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Anemia, Splenomegaly, Increased circulating ferritin concentration, Reduced natural killer cell c... |
OMIM:616050 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
Vitamin D-Dependent Rickets, Type 3 |
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Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Refractory Celiac Disease |
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Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, H... |
ORPHA:398063 |
Cernunnos-Xlf Deficiency |
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B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Hypercalcemia, Infantile, 2 |
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Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Pseudohypoparathyroidism, Type Ii |
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Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Immunodeficiency 13 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Autosomal Dominant Hypophosphatemic Rickets |
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Iron deficiency anemia, Tooth abscess, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Decreased proportion of CD3-positive T cells, Reduced natu... |
ORPHA:276 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased proportion of class-sw... |
OMIM:615513 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Pgm3-Cdg |
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Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Familial Isolated Hyperparathyroidism |
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Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Fanconi Renotubular Syndrome 5 |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Colchicine Poisoning |
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Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... |
ORPHA:31824 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
X-Linked Lymphoproliferative Disease |
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Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... |
ORPHA:2442 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Fanconi Renotubular Syndrome 1 |
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Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... |
OMIM:600802 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Hypophosphatemia |
OMIM:308990 |
Malignant Hyperthermia, Susceptibility To, 2 |
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Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level |
ORPHA:157215 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Hypocalcemia, Autosomal Dominant 1 |
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Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia |
ORPHA:277 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hyperparathyroidism, Neonatal Severe |
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Hypercalcemia, Calcinosis, Anemia, Hypophosphatemia, Splenomegaly |
OMIM:239200 |
Hermansky-Pudlak Syndrome 2 |
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Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... |
OMIM:608233 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:158061 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Intention tremor, Reduced natural killer cell count, Decreased proportion of C... |
ORPHA:221139 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Uremic Pruritus |
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Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... |
ORPHA:35078 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Hypophosphatemia |
OMIM:600081 |
Blue Diaper Syndrome |
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Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
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Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Hemophagocytic Syndrome Associated With An Infection |
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Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... |
ORPHA:158048 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Anemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:36913 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Autoim... |
ORPHA:572 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... |
ORPHA:94093 |
Pearson Syndrome |
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Neutropenia, Hypokalemia, Hypophosphatemia, Anemia, Hyperalaninemia, Hypomagnesemia, Splenomegaly... |
ORPHA:699 |
Hyperphosphatasia With Mental Retardation Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Mccune-Albright Syndrome |
|
Pancytopenia, Hypophosphatemia |
ORPHA:562 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Tremor, Tran... |
ORPHA:79102 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... |
ORPHA:405 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... |
ORPHA:3337 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb... |
OMIM:613011 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... |
ORPHA:79124 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Hypernatremia, T lymphocytopenia, Anemi... |
OMIM:619381 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Infantile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:411629 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Anemia, Splenomegaly, Tremor, Hypocalcemia |
ORPHA:667 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Ataxia-Telangiectasia |
|
Leukemia, Hypoplasia of the thymus, Tremor, Elevated alpha-fetoprotein, Decreased proportion of C... |
OMIM:208900 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Hepato... |
OMIM:606367 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Anemia, Hypercholesterolemia, Thrombocytopenia, Hypo... |
ORPHA:534 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia |
OMIM:229600 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Tooth abscess, Renal hypophosphatemia, Hypophosphatemic rickets |
ORPHA:289176 |
Hypophosphatemic Rickets |
|
Hypercalcemia, Tooth abscess, Hypophosphatemia, Periapical tooth abscess |
ORPHA:437 |
X-Linked Hypophosphatemia |
|
Tooth abscess, Hypophosphatemia |
ORPHA:89936 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria |
ORPHA:1652 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia |
ORPHA:457059 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia |
ORPHA:428 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia |
ORPHA:79444 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolytic anemia, Apl... |
ORPHA:83471 |
Stiff-Person Syndrome |
|
Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopen... |
ORPHA:340 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia |
ORPHA:79443 |
Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Hyponatremia, Abnormal natural killer cell morphology, Neutropenia, Thrombocytop... |
ORPHA:167 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Opisthotonus, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased p... |
ORPHA:508533 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Elevated circulating creatine kinase concentration, Hypocalcemia, Thrombocytopenia,... |
ORPHA:466650 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:251260 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
ORPHA:309246 |
Sandhoff Disease |
|
Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
OMIM:272750 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:280651 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb tremor, Exaggerated startle response |
OMIM:608643 |
Tay-Sachs Disease |
|
Tremor, Increased serum beta-hexosaminidase, Exaggerated startle response |
ORPHA:845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Exaggerated startle response |
OMIM:253800 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response |
ORPHA:438216 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response |
ORPHA:521426 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Anemia, Decreased serum iron |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |