Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Non-Functioning Paraganglioma |
|
Tremor, Hypercalcemia |
ORPHA:94080 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia |
OMIM:143880 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
OMIM:618440 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Hypercalcemia |
OMIM:239200 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Hypercalcemia |
ORPHA:276621 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Hypercalcemia |
ORPHA:476126 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Hypercalcemia |
ORPHA:29072 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
Acute Adrenal Insufficiency |
|
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia |
ORPHA:95409 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Monosomy 13Q34 |
|
Infantile hypercalcemia |
ORPHA:96168 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... |
OMIM:601678 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Addison Disease |
|
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia |
ORPHA:85138 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia |
ORPHA:88673 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Oculogyric crisis, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Somatostatinoma |
|
Hypercalcemia |
ORPHA:97283 |
Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemi... |
ORPHA:79444 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Glucagonoma |
|
Hypercalcemia |
ORPHA:97280 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Choreoathetosis, Hyperphosphatemia, Calcin... |
ORPHA:79443 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Williams Syndrome |
|
Tremor, Elevated circulating creatine kinase concentration, Hypercalcemia, Abnormal circulating l... |
ORPHA:904 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany |
ORPHA:73224 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... |
ORPHA:36234 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoa... |
ORPHA:37042 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia |
OMIM:212750 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Williams-Beuren Syndrome |
|
Hypercalcemia |
OMIM:194050 |
Sotos Syndrome |
|
Tremor, Hypercalcemia |
ORPHA:821 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Hyperalaninemia |
ORPHA:699 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Tay-Sachs Disease |
|
Exaggerated startle response, Laryngeal dystonia, Increased serum beta-hexosaminidase, Tremor, Dy... |
ORPHA:845 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Gitelman Syndrome |
|
Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia |
ORPHA:358 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
Visceral Steatosis, Congenital |
|
Hypocalcemia |
OMIM:228100 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
ORPHA:2785 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Exaggerated startle response |
OMIM:253800 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia |
ORPHA:567 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... |
OMIM:619991 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:613658 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypomagnesemia, Hypocalcemia |
OMIM:619503 |
Digeorge Syndrome |
|
Hypocalcemia |
OMIM:188400 |
Charge Syndrome |
|
Hypocalcemia |
OMIM:214800 |
Johanson-Blizzard Syndrome |
|
Increased VLDL cholesterol concentration, Hypocalcemia |
OMIM:243800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Decreased serum iron |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |