Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Irritability, Hypocalcemic seizures |
OMIM:146200 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia, Irritability |
OMIM:239350 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity |
OMIM:238700 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Hypsarrhythmia |
OMIM:619970 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
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, Prolonged somatosensory evoked potentials, Optic atrophy, Mitra... |
OMIM:616648 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, EEG abnormality, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hearing impairment, Hyperphosphatemia |
OMIM:614207 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Hyperactivity, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... |
OMIM:301008 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Low-set ears, Posteriorly rotated ears, Hypocalcemic seizures |
OMIM:241410 |
Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Glycine Encephalopathy |
|
Hyperglycinemia, Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Anxiety, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, A... |
OMIM:261600 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Anxiety, Optic atrophy, Hyperphosphatemia, Emotional lability |
ORPHA:428 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Lennox-Gastaut Syndrome |
|
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Abnormal autonomic nervous system physiology, Elevated circulating ... |
ORPHA:94093 |
Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, Anxie... |
ORPHA:98818 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Sensorineural hearing impairment, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Hearing im... |
OMIM:239000 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia |
OMIM:617113 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Elevated circulating gamma-amin... |
OMIM:271980 |
Sanjad-Sakati Syndrome |
|
External ear malformation, Hyperphosphatemia, Low-set, posteriorly rotated ears, Hypocalcemia |
ORPHA:2323 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Abnormal pinna morphology, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, EEG with generalized epileptiform discharges, Self-biting... |
OMIM:619827 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalc... |
ORPHA:79444 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Cardiomyocyte mitochond... |
ORPHA:423 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior |
OMIM:309548 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hearing impairment, Hyperphosphatemia |
ORPHA:457059 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Hyperactivity, Aggressive behavior |
OMIM:619470 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... |
OMIM:301013 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting |
OMIM:618314 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Pseudohypoparathyroidism Type 1A |
|
Sensorineural hearing impairment, Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyper... |
ORPHA:79443 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Focal EEG discharges with secondary genera... |
ORPHA:3077 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Optic atrophy, Hearing impairment, Hyperphosphatemia |
OMIM:101800 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hyperactivity, Hepatomegaly |
OMIM:615924 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia |
OMIM:615541 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Aggressive behavior, Asymmetric septal hypertrophy, He... |
OMIM:252920 |
Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Hyperactivity, Irritability, Continuous spike and waves during slow sleep,... |
ORPHA:1929 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity, EEG with polyspike wave complexes |
OMIM:617169 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, EEG abnormality, Self-injurious behavior, Hyperactivity |
OMIM:618718 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Atrial septal defect, Pulmonic stenosis, EEG with burst suppression, Hypsarrhythmia |
OMIM:619239 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior |
OMIM:612716 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619467 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Skin-picking, Hepatomegaly, Hyperactivity, Self-mutilation, EEG with gener... |
ORPHA:163681 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, EEG abnormality, Hyperactivity |
ORPHA:411515 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529799 |
Smith-Magenis Syndrome |
|
Head-banging, EEG abnormality, Hyperactivity, Self-mutilation, Hypertriglyceridemia, Morphologica... |
OMIM:182290 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal emotion/af... |
ORPHA:1942 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Hyperactivity, Macrotia |
OMIM:618504 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hearing impairment, Hypophosphatemia, Irritability, Hypocalcemic seizures |
OMIM:277440 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Myocarditis, Abnormal blood ion conc... |
ORPHA:31824 |
Cln5 Disease |
|
EEG with focal spikes, Hyperactivity, EEG with spike-wave complexes, Anxiety, Aggressive behavior... |
ORPHA:228360 |
Fragile X Syndrome |
|
Mitral valve prolapse, Hyperactivity, Self-biting, Macrotia |
OMIM:300624 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hearing impairment, Hyperactivity, Aggressive behavior, Dysplastic pulmonary valve |
OMIM:300958 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Irritability, Hypocalcemic seizures |
OMIM:264700 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level |
ORPHA:157215 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Hyperactivity, EEG with spike-wave complexes, EEG with general... |
ORPHA:168491 |
Chromosome 2Q37 Deletion Syndrome |
|
Sensorineural hearing impairment, Hyperactivity, Self-injurious behavior, Subvalvular aortic sten... |
OMIM:600430 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
16P12.1P12.3 Triplication Syndrome |
|
Large earlobe, Skin-picking, Atrial septal defect, Hyperactivity, Anxiety, Nail-biting, Attention... |
ORPHA:485405 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hepatomegaly, Splenomegaly, Hypercalcemia, Calcinosis |
OMIM:239200 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Abnormal autonomic nervous system physiology, Restric... |
ORPHA:85451 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
High-frequency hearing impairment, Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, El... |
OMIM:619743 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Hypouricemia |
OMIM:616026 |
Mend Syndrome |
|
Aortic valve stenosis, Hyperactivity, Elevated 8(9)-cholestenol, Aggressive behavior, Abnormal au... |
ORPHA:401973 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
EEG abnormality, Hyperactivity, Aggressive behavior |
ORPHA:500180 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Irritability, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration |
OMIM:307800 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hearing impairment, Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241530 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... |
ORPHA:3240 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Anxiety, Mitral valve prolapse, Attention deficit hyperac... |
ORPHA:449291 |
Pitt-Hopkins-Like Syndrome 1 |
|
EEG abnormality, Hyperactivity, Aggressive behavior |
OMIM:610042 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hearing impairment, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia |
OMIM:600081 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hyperactivity, Hypoproteinemia, Decreased HDL... |
ORPHA:247585 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Macrotia |
ORPHA:391307 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatomegaly, Atrial septa... |
ORPHA:79330 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pulmonic stenosis, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia, Hepatomegaly |
ORPHA:2088 |
Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave complexes, E... |
OMIM:619913 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Abnormal... |
ORPHA:909 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Irritability, Optic atrophy, Hearing impairment, Prolonged b... |
ORPHA:206436 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hepatomegaly, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Hearing impairment |
OMIM:252900 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Hyperactivity, Aganglionic megacolon, Abnormal circulating creatine concentration |
ORPHA:52503 |
Alport Syndrome 3, Autosomal Dominant |
|
Sensorineural hearing impairment, Azotemia, Hypophosphatemia |
OMIM:104200 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Hepatomegaly, Increased blood urea nitrogen, Optic atrophy, ... |
ORPHA:90321 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Abnormally folded helix, Atrial septal defect, Hyperactivity, Ventricular septal defect, Aggressi... |
OMIM:309520 |
Juvenile Nephropathic Cystinosis |
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Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio... |
OMIM:256800 |
Histidinemia |
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Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
Spastic Paraplegia 29, Autosomal Dominant |
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Sensorineural hearing impairment, Neonatal hyperbilirubinemia, Hyperactivity |
OMIM:609727 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... |
ORPHA:99027 |
Pearson Syndrome |
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Hypomagnesemia, Hypophosphatemia, Hepatomegaly, Hypokalemia, Hypocalcemia, Splenomegaly, Hyperala... |
ORPHA:699 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormal pulmonary valve morphology, Hypophosphatemia, Hepatomegaly, Hypocalcemia, Splenomegaly, ... |
ORPHA:667 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... |
ORPHA:101085 |
Opsismodysplasia |
|
Low-set ears, Hypophosphatemia, Posteriorly rotated ears |
OMIM:258480 |
Raine Syndrome |
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Abnormal pinna morphology, Protruding ear, Hypophosphatemia, Mixed hearing impairment, Low-set ea... |
OMIM:259775 |
Argininemia |
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Hyperactivity, Hepatomegaly, Hyperammonemia, Hyperargininemia, Irritability |
OMIM:207800 |
Dent Disease 1 |
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Hypophosphatemia |
OMIM:300009 |
Trisomy 10P |
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EEG with focal spikes, EEG with burst suppression, Low voltage EEG, Abnormal auditory evoked pote... |
ORPHA:171929 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Oculocerebrorenal Syndrome Of Lowe |
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Protruding ear, EEG abnormality, Hypophosphatemia, Hypokalemia, Self-injurious behavior, Hypoammo... |
ORPHA:534 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Fibrous Dysplasia Of Bone |
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Hearing impairment, Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Congenital Tricuspid Valve Dysplasia |
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Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Mccune-Albright Syndrome |
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Hearing impairment, Hypophosphatemia |
ORPHA:562 |
Cystinosis, Nephropathic |
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Hypophosphatemic rickets, Hypomagnesemia, Hepatomegaly, Hypophosphatemia, Hypokalemia, Splenomega... |
OMIM:219800 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... |
ORPHA:3337 |
Infantile Nephropathic Cystinosis |
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Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
Thyrotoxic Periodic Paralysis |
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Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... |
ORPHA:79102 |
Fructose Intolerance, Hereditary |
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Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia |
OMIM:229600 |
Cockayne Syndrome B |
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Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... |
OMIM:133540 |
Cockayne Syndrome A |
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Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... |
OMIM:216400 |
Chromosome 15Q25 Deletion Syndrome |
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Abnormal cardiac septum morphology, Hyperactivity, Ventricular septal defect, Dextrocardia, Atten... |
OMIM:614294 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Parathyroid Carcinoma |
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Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Autosomal Recessive Hypophosphatemic Rickets |
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Sensorineural hearing impairment, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
X-Linked Hypophosphatemia |
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Sensorineural hearing impairment, Hypophosphatemia |
ORPHA:89936 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Renal hypophosphatemia |
ORPHA:1652 |
Microcephaly 29, Primary, Autosomal Recessive |
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Hyperactivity, Emotional lability |
OMIM:620047 |
Choreoacanthocytosis |
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Apathy, Head-banging, Hepatomegaly, Self-injurious behavior, Abnormal autonomic nervous system ph... |
ORPHA:2388 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling |
ORPHA:447997 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |