Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity, EEG abnormality |
ORPHA:436151 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Developmental And Epileptic Encephalopathy 104 |
|
Hypsarrhythmia, Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Anxiety, Hypocalcemia, Irritability |
ORPHA:36913 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperprolinemia, EEG abnormality |
OMIM:239500 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... |
OMIM:616648 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia, Hearing impairment |
OMIM:614207 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment |
OMIM:241520 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Agitation, Prominent ear helix, Impulsivity |
ORPHA:100973 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:248510 |
Developmental And Epileptic Encephalopathy 43 |
|
Hypsarrhythmia, Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Anxiety, Abnormal autonomic nervous system physiology, Hyperkal... |
ORPHA:94093 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Agitation |
OMIM:309548 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Low-set ears, Hypocalcemia, Posteriorly rotated ears |
OMIM:241410 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia |
OMIM:612462 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Hypocalcemic seizures, Hypocalcemia,... |
ORPHA:94089 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Optic atrophy, Emotional lability, Anxiety, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Dysphagia... |
OMIM:617519 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, EEG with focal sharp slow waves |
ORPHA:2382 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attent... |
OMIM:261600 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Interictal EEG ... |
ORPHA:98818 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity |
OMIM:238700 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Polyphagia, Hypocalcemic seizures, H... |
ORPHA:79444 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Sensorineural hearing impairment, Hydroxyprolinemia, Hearing im... |
OMIM:239000 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Macrotia, Aggressive behavior, Anxiety, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, EEG abnormality, Elevated circulatin... |
OMIM:271980 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Sensorineural hearing impairment, Anxiety, Calcinosis, Po... |
ORPHA:79443 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Optic atrophy |
OMIM:619470 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia, Hearing impairment |
ORPHA:457059 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Self-injurious ... |
OMIM:619827 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Papilledema, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Hyperkalemia, Elevated creatine kin... |
ORPHA:423 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Macrotia, Aggressive behavior, Prominent crus of helix, Anxiety, Attention deficit... |
OMIM:301013 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Emotional lability, Decr... |
ORPHA:206443 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... |
ORPHA:3077 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity, Macrotia, Anteverted ears |
OMIM:615541 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Hearing impairment, Optic atrophy |
OMIM:101800 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Increased theta frequency activity in EEG, EEG with focal spikes, Interictal epile... |
ORPHA:1929 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Asymmetric septal hypertrophy, Hearing impairment, Hepatomega... |
OMIM:252920 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... |
ORPHA:1215 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia, Hyperactivity, Self-biting |
OMIM:618314 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior |
ORPHA:101039 |
Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... |
OMIM:600501 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior |
ORPHA:382 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, Hyperactivity, Self-injurious behavior, EEG abnormality |
OMIM:618718 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Happy demeanor, EEG abnormality |
ORPHA:411515 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Papilledema, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior |
OMIM:612716 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Aggressive behavior, Macrotia, Agitation, Anxiety, Restlessness |
OMIM:300558 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly, Polydipsia |
OMIM:239200 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Impulsivity, Dysphagia |
ORPHA:500180 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529799 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia, Agitation |
ORPHA:340 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Impulsivity, Attention deficit hyperactivity disorder, Pulmon... |
OMIM:620141 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Irritability, Hearing impairment, Hypocalcemic seizures |
OMIM:277440 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, EEG with focal ... |
ORPHA:163681 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Fragile X Syndrome |
|
Hyperactivity, Macrotia, Mitral valve prolapse, Self-biting |
OMIM:300624 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Hearing impairment, Optic atrophy |
ORPHA:369939 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures |
OMIM:264700 |
Cystinosis |
|
Hypokalemia, Hypophosphatemia, Polydipsia |
ORPHA:213 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Myoc... |
ORPHA:31824 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Abnormal emotion/affect behavior, EEG with polyspike wave complexes, Interictal ep... |
ORPHA:1942 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:201050 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... |
ORPHA:157215 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Cln5 Disease |
|
Hyperactivity, Aggressive behavior, EEG with focal spikes, Multifocal epileptiform discharges, An... |
ORPHA:228360 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy |
OMIM:616881 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
16P12.1P12.3 Triplication Syndrome |
|
Hyperactivity, Atrial septal defect, Large earlobe, Attention deficit hyperactivity disorder, Ski... |
ORPHA:485405 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Abnormality of enteric ... |
ORPHA:85451 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
Citrullinemia Type Ii |
|
Hyperactivity, Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decrease... |
ORPHA:247585 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated creatine ki... |
OMIM:619743 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Hypouricemia |
OMIM:616026 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with generalized slow activity grade 4, Hyperactivity, EEG with series of focal spikes, Aggre... |
ORPHA:168491 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials, Elevated 8(9)-cholesteno... |
ORPHA:401973 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Fanconi-Bickel Syndrome |
|
Hypokalemia, Hypophosphatemia, Hypouricemia |
OMIM:227810 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia, Hearing impairment |
OMIM:156400 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, EEG abnormality |
OMIM:610042 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hearing impairment, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Mitral valve prolapse, Att... |
ORPHA:449291 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Left ventri... |
ORPHA:79330 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Pulmonic stenosis, Anxiety |
OMIM:617600 |
Cerebrotendinous Xanthomatosis |
|
Aggressive behavior, Abnormality of somatosensory evoked potentials, Optic atrophy, Suicidal idea... |
ORPHA:909 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia, Hepatomegaly |
ORPHA:2088 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia, Sensorineural hearing impairment, Hearing impairment |
OMIM:104200 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Infantile Krabbe Disease |
|
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potential... |
ORPHA:206436 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Hepatomegaly, Hypermagnesemia |
ORPHA:469 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Hypophosphatemia, Polydipsia, Abnormal blood ion concentration |
ORPHA:411629 |
Pearson Syndrome |
|
Splenomegaly, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Abnormal heart morphology, Hepatome... |
ORPHA:699 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosp... |
OMIM:219800 |
Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Hyperactivity, Abnormal circulating creatine concentration, Self-mutilation |
ORPHA:52503 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Cockayne Syndrome Type 1 |
|
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Abnormal autonomic nervous system physiology, Emotional lability, Self-mutilation,... |
OMIM:256800 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Abnormality of peripheral nerve conduction, Transient hypophosphatemia, Hyp... |
ORPHA:79102 |
Opsismodysplasia |
|
Low-set ears, Hypophosphatemia, Posteriorly rotated ears |
OMIM:258480 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Raine Syndrome |
|
Hypophosphatemia, Posteriorly rotated ears, Abnormal pinna morphology, Mixed hearing impairment, ... |
OMIM:259775 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Optic nerve compression, Hypophosphatemia, Abnormal pulmonary valve morphology, Hep... |
ORPHA:667 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
ORPHA:101085 |
Dent Disease 1 |
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Hypophosphatemia |
OMIM:300009 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypercholesterolemia, Self-injurious behavior, EEG abnormality, Anxiety, Hypophosphatemia, Hypoka... |
ORPHA:534 |
Argininemia |
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Hyperactivity, Hyperammonemia, Hyperargininemia, Hepatomegaly, Irritability |
OMIM:207800 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Fibrous Dysplasia Of Bone |
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Hypophosphatemia, Hypercalcemia, Hearing impairment |
ORPHA:249 |
Mccune-Albright Syndrome |
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Hypophosphatemia, Hearing impairment |
ORPHA:562 |
Congenital Tricuspid Valve Dysplasia |
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Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Hypophosphatemia, Hypercalcemia, Polydipsia, Dysphagia |
ORPHA:99880 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypophosphatemic rickets, Bicarbonatur... |
ORPHA:3337 |
Parathyroid Carcinoma |
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Hypophosphatemia, Hypercalcemia, Polydipsia, Dysphagia |
ORPHA:143 |
Familial Hypocalciuric Hypercalcemia |
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Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Fructose Intolerance, Hereditary |
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Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Hepatomegaly, Bicarbonaturia |
OMIM:229600 |
Cockayne Syndrome B |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
Cockayne Syndrome A |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:216400 |
Autosomal Recessive Hypophosphatemic Rickets |
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Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets, Sensorineural hearing impa... |
ORPHA:289176 |
X-Linked Hypophosphatemia |
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Hypophosphatemia, Sensorineural hearing impairment |
ORPHA:89936 |
Dent Disease |
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Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Hypophosphatemic Rickets |
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Hypophosphatemia, Hypercalcemia |
ORPHA:437 |