| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short attention span |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity, Short attention span |
OMIM:608443 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Falls |
OMIM:615883 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia, Abnormal blood phosphate concentration |
OMIM:615361 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Reduced bone mineral density, Cognitive impairment |
ORPHA:172 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Irritability, Inability to walk |
OMIM:616657 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia |
OMIM:620448 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia, Osteopenia |
OMIM:619073 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94090 |
| Autoimmune Hypoparathyroidism |
|
Irritability, Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Depression, Co... |
ORPHA:36913 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Motor stereotypy, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia |
OMIM:234500 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Glycine Encephalopathy 1 |
|
Irritability, Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior |
OMIM:605899 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Bone cyst, Abnormal bone structure, Gait disturbance, Coarse metaphyseal trabecular... |
ORPHA:93160 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Pseudohypoparathyroidism Type 1B |
|
Irritability, Hypocalcemic seizures, Diaphyseal sclerosis, Hypocalcemia, Increased bone mineral d... |
ORPHA:94089 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Cort... |
ORPHA:93324 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity |
OMIM:617113 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Difficulty walking, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Spa... |
OMIM:600081 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Difficulty walking, Diaphyseal sclerosis, Hypocalcemia, Cognitive impairment, Inap... |
OMIM:618476 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Irritability, Hypocalcemic seizures, Difficulty walking, Delayed epiphyseal ossification... |
OMIM:264700 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification |
OMIM:618618 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Hypertriglyceridemia, Mental deterioration |
OMIM:615924 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Elevated circulating creatinine concentration, Osteomalacia, Hypokalemia |
OMIM:179800 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Rickets, Hypophosphatemia, Osteomalacia |
ORPHA:89937 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior |
OMIM:301107 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemia, Osteoporosis, Cognitive impairment, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
| Lennox-Gastaut Syndrome |
|
Irritability, Falls, Hyperactivity, Mental deterioration, Aggressive behavior |
ORPHA:2382 |
| Landau-Kleffner Syndrome |
|
Steppage gait, Memory impairment, Hyperactivity, Depression, Emotional lability, Short attention ... |
ORPHA:98818 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia |
OMIM:612526 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Irritability, Hypocalcemic seizures, Difficulty walking, Delayed epiphyseal ossification... |
ORPHA:289157 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Phenylketonuria |
|
Irritability, Hyperactivity, Depression, Hyperphenylalaninemia, Compulsive behaviors, Attention d... |
OMIM:261600 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
| Juvenile Huntington Disease |
|
Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depression, Gait at... |
ORPHA:248111 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Unsteady gait, Self-mu... |
OMIM:615516 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Polyphagia |
OMIM:606407 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Fibrous dysplasia of the bones, Hypophosphatemia, Gait disturbance |
ORPHA:352540 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis |
OMIM:244460 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... |
ORPHA:3077 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Hypokalemia, Hypomagnesemia, Hypocalcemia |
OMIM:175500 |
| Pseudohypoparathyroidism Type 1C |
|
Irritability, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, De... |
ORPHA:79444 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria |
OMIM:618090 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia |
ORPHA:2668 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics |
OMIM:619927 |
| Pseudohypoparathyroidism Type 1A |
|
Irritability, Calcinosis, Hypocalcemic seizures, Reduced bone mineral density, Hypocalcemia, Incr... |
ORPHA:79443 |
| Albers-Schönberg Osteopetrosis |
|
Hypocalcemia, Generalized osteosclerosis |
ORPHA:53 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia, Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia... |
OMIM:617994 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
| Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Hypocalcemia, Depression, Emotional lability, Hypomagnesemia, Hyper... |
ORPHA:428 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis |
OMIM:241410 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact... |
OMIM:619827 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Hyponatremia, Dysphagia |
OMIM:617913 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Polyphagia, Short attention span, Inappropriate laughter, Ataxia |
ORPHA:411515 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Hypocalcemia, Increased bone mineral density, Craniosyno... |
OMIM:259700 |
| Celiac Disease, Susceptibility To, 1 |
|
Rickets, Hypocalcemia, Depression, Osteoporosis, Ataxia |
OMIM:212750 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... |
ORPHA:94093 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Dysdiadochokinesis, Short attention span, Hyperlysinemia, Cognitive impairment, Hy... |
OMIM:238700 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia, Self-injurious... |
OMIM:271980 |
| Hypophosphatasia |
|
Craniosynostosis, Irritability, Hypercalcemia |
ORPHA:436 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... |
OMIM:618718 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Hypophosphatasia, Infantile |
|
Anorexia, Irritability, Unossified vertebral bodies, Elevated plasma pyrophosphate, Decreased cal... |
OMIM:241500 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hypocalcemia, Increased bone mineral density, Thickened cortex of lon... |
OMIM:127000 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Craniosynostosis, Hypercalcemia |
OMIM:614732 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Subcutaneous ossification, Cognitive impairment, Hypocalcemic tetany, Hyperphosphat... |
OMIM:103580 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia, Confusion, Addictive alcohol use, Ataxia, Euphoria |
ORPHA:31826 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Osteopetrosis, Irritability, Hypocalcemia, Hyperbilirubinemia, Increased bo... |
OMIM:259720 |
| Cholera |
|
Irritability, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
| Gracile Bone Dysplasia |
|
Hypocalcemia, Decreased skull ossification |
OMIM:602361 |
| Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia |
ORPHA:90362 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
| Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... |
ORPHA:26793 |
| Generalized Pustular Psoriasis |
|
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis |
ORPHA:2323 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting |
OMIM:618314 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... |
ORPHA:247585 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dysphagia, Aggressive behavior |
ORPHA:500180 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior |
OMIM:620023 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic... |
ORPHA:411634 |
| Rhabdoid Tumor |
|
Irritability, Hypercalcemia |
ORPHA:69077 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Hypocalcemia |
ORPHA:746 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
OMIM:618440 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Confusion, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Ele... |
ORPHA:36234 |
| Uremic Pruritus |
|
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia |
ORPHA:94059 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Compulsive behaviors, Gait ataxia, Hypercalcemia, Motor stereotypy, Attention deficit hyperactivi... |
ORPHA:476126 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Depression, Hypercalcemia, Hypophosphatemia, Osteomalacia |
OMIM:600740 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Progressive psychomotor deterioration, Polyphagia, Increased blood urea nitrogen, Hypercalcemia, ... |
ORPHA:251004 |
| Velocardiofacial Syndrome |
|
Hypocalcemia, Emotional lability, Aggressive behavior |
OMIM:192430 |
| Infantile Myofibromatosis |
|
Bone cyst, Hypercalcemia, Osteolysis |
ORPHA:2591 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Progressive language deterioration, Ataxia, Motor stereotypy, Attention deficit hy... |
OMIM:610042 |
| Optic Atrophy 11 |
|
Hyperactivity, Athetosis, Gait apraxia, Mildly elevated creatine kinase, Stereotypical body rocki... |
OMIM:617302 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hypocalcemia, Confusion, Elevated circulating creatine kinase concentration, Ataxia... |
ORPHA:466650 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Irritability, Hypocalcemic seizures, Difficulty walking, Delayed epiphyseal ossification... |
OMIM:277440 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Difficulty walking, Abnormal bone structure, Cortical irregularity, Thin bony cortex, Hy... |
ORPHA:249 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Subperiosteal bone formation, Hyperostosis, Hypercalcemia, Hyperphosphatemia |
OMIM:211900 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Gait disturbance, Cognitive impairment, Disinhibition, Dementia, Attention deficit... |
ORPHA:43 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hair-pulling, Nail-biting, Broad-based gait, Hypocalcemia, Emotional lability, Polyphagia, Fixate... |
OMIM:620330 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Waddling gait, Hypophosphatemia, Osteopenia |
OMIM:156400 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Emotional lability, Short attention span, Gait disturbance, Impulsivity, Choking e... |
ORPHA:35069 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Depression, Hyperphenylalaninemia, Ataxia, Abnorm... |
OMIM:612716 |
| Hypomagnesemia 3, Renal |
|
Polydipsia, Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide con... |
OMIM:248250 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Depression, Short attention span, Dysphoria, Motor stereotypy, Attention deficit h... |
OMIM:620242 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Obsessive-compulsive trait, Inability to walk, Hyperactivity, Low frustration tolerance, Motor de... |
ORPHA:168491 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... |
ORPHA:37042 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Abnormal bone ossification, Abnormally ossified vertebrae, Cognitive impairment |
ORPHA:175 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Difficulty walking, Inability to walk, Memory impairment, Hyperactivity, Mental deterioration, Co... |
ORPHA:139396 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sclerosis of skull base, Osteosclerosis of the ulna, Hypercalcemia, Osteolysis |
OMIM:602080 |
| Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... |
ORPHA:163681 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Short attention span, Osteopenia |
OMIM:608747 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Short... |
ORPHA:449291 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Reduced bone mineral density, Hypocalcemia, Unconjugated hyperbilirubinemia,... |
OMIM:613658 |
| Graves Disease |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
| Pearson Syndrome |
|
Hypokalemia, Hypocalcemia, Hyperalaninemia, Ataxia, Hypophosphatemia, Dysphagia, Hypomagnesemia |
ORPHA:699 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Recurrent hand flapping, Short... |
ORPHA:98794 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany |
ORPHA:73224 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Athetosis, Ataxia, Abnormal circulating creatine concentration, Self-mutilation |
ORPHA:52503 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Mental deterioration, Dysdiadochokinesis, Emotional lability, Short attention span... |
OMIM:610217 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Reduced bone mineral density, Hypocalcemia, Hypophosphatemia, Craniosynostosis |
ORPHA:667 |
| Gitelman Syndrome |
|
Polydipsia, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Salt craving |
ORPHA:358 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia |
ORPHA:97289 |
| Late-Onset Isolated Acth Deficiency |
|
Anorexia, Generalized bone demineralization, Hyperuricemia, Hyponatremia, Hypercalcemia |
ORPHA:199299 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Argininemia |
|
Spastic gait, Anorexia, Irritability, Hyperactivity, Hyperargininemia, Hyperammonemia |
OMIM:207800 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Calvarial osteosclerosis, Decreased skull ossification, Cortical thickenin... |
ORPHA:93325 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia |
ORPHA:405 |
| 22Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Depression, Hypocalcemia, Multiple suture craniosynostosis |
ORPHA:567 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Acute Adrenal Insufficiency |
|
Anorexia, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalc... |
ORPHA:95409 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Osteopetrosis, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Tip-toe gait, Broad-based gait, Falls, Hypocalcemia, Low frustration tolerance, Impulsivity, Ster... |
OMIM:619503 |
| Cranioectodermal Dysplasia 1 |
|
Hypocalcemia, Sagittal craniosynostosis, Osteoporosis |
OMIM:218330 |
| Hennekam Syndrome |
|
Hypocalcemia, Craniosynostosis |
ORPHA:2136 |
| Addison Disease |
|
Anorexia, Hyperkalemia, Generalized bone demineralization, Hyperuricemia, Increased circulating r... |
ORPHA:85138 |
| Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
| Liver Disease, Severe Congenital |
|
Irritability, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Short attention... |
OMIM:619991 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyponatremia, Hyperkalemia |
ORPHA:544482 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Multiple Myeloma |
|
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia |
ORPHA:29073 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Osteoporosis, Hypercalcemia, Hypophosphatemia, Dysphagia |
ORPHA:99880 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Incre... |
OMIM:601678 |
| Parathyroid Carcinoma |
|
Polydipsia, Osteoporosis, Hypercalcemia, Hypophosphatemia, Dysphagia |
ORPHA:143 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Emotional lability, Ataxia |
OMIM:620047 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Obsessive-compulsive trait, Akinesia, Dementia, Hyperactivity, Depression, Gait disturbance, Phon... |
OMIM:234200 |
| Spinal Cord Injury |
|
Hypercalcemia |
ORPHA:90058 |
| Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Craniosynostosis, Hypercalcemia, Osteopenia |
ORPHA:369837 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
| Digeorge Syndrome |
|
Attention deficit hyperactivity disorder, Hypocalcemia |
OMIM:188400 |
| Choreoacanthocytosis |
|
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Dysphagia, Motor tics... |
ORPHA:2388 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
| Glucagonoma |
|
Anorexia, Hypercalcemia, Depression |
ORPHA:97280 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Reduced bone mineral density, Depression, Confusion, Short attention span, Hypercalcemi... |
ORPHA:652 |
| Charge Syndrome |
|
Hypocalcemia, Self-mutilation, Dysphagia |
OMIM:214800 |
| Vipoma |
|
Anorexia, Hypercalcemia, Hypokalemia |
ORPHA:97282 |
| Ppoma |
|
Anorexia, Hypercalcemia |
ORPHA:97278 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Osteopenia, Gait imbalance, Increased bone mineral dens... |
ORPHA:904 |
| Somatostatinoma |
|
Anorexia, Hypercalcemia |
ORPHA:97283 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
| Grfoma |
|
Anorexia, Hypercalcemia |
ORPHA:97261 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
| Williams-Beuren Syndrome |
|
Obsessive-compulsive trait, Osteopenia, Gait imbalance, Short attention span, Osteoporosis, Hyper... |
OMIM:194050 |
| Johanson-Blizzard Syndrome |
|
Hypocalcemia, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
| Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
| Sotos Syndrome |
|
Attention deficit hyperactivity disorder, Craniosynostosis, Hypercalcemia, Aggressive behavior |
ORPHA:821 |
| Sarcoidosis |
|
Bone cyst, Hypercalcemia |
ORPHA:797 |
