| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
| Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
| 7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
| Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di... |
ORPHA:98764 |
| Manganese Poisoning |
|
Decreased female libido, Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexualit... |
ORPHA:306682 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... |
ORPHA:33543 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial septal defect, ... |
DECIPHER:39 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Hereditary Central Diabetes Insipidus |
|
Irritability, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Compulsive behaviors, Decreased body mass index, Depression, Gait dist... |
ORPHA:399 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Emotional lability, Obesity, Cryptorchidism |
OMIM:309585 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
| Central Diabetes Insipidus |
|
Anorexia, Weight loss, Depression, Polydipsia, Failure to thrive, Diabetes insipidus |
ORPHA:178029 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia |
OMIM:620270 |
| Perry Syndrome |
|
Akinesia, Tremor, Frontotemporal dementia, Depression, Weight loss, Inappropriate behavior, Disin... |
OMIM:168605 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Postural tremor, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Pr... |
OMIM:607454 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Unsteady gait, Neuromuscular dysphagia, Blepharospasm, Dement... |
ORPHA:240094 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Joint hyper... |
OMIM:620065 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Obesity, Hypogonadism, Cognitive impairment, Micropenis |
OMIM:615983 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
| Cystinosis |
|
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Rickets, Gait disturbance, Delaye... |
ORPHA:213 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity, Finger joint hypermobility |
ORPHA:436141 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Craniosynostosis, Puberty and gonadal disorders, Tremor, Thyrotoxicosis with diffu... |
ORPHA:525731 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Aggressive behavior, Tremor, Dementia, Dystonia, Mental deterioration |
OMIM:300894 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Akinesia, Impulsivity, Depression, Weight loss, Dementia, Agitation, Lo... |
ORPHA:411602 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, Tremor, Self-mutilation, Crani... |
ORPHA:457240 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Blepharospasm, Social and... |
ORPHA:240071 |
| Spinocerebellar Ataxia 32 |
|
Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy |
OMIM:613909 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impairment, Testicular at... |
ORPHA:276183 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Primary ... |
OMIM:610628 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Cryptorchidism, Generalized joint laxity, Increased body weight, Hand tremor, Gait d... |
ORPHA:589905 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... |
OMIM:614962 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Corticobasal Syndrome |
|
Limb dystonia, Akinesia, Tremor, Dementia, Gait disturbance, Dystonia, Memory impairment |
ORPHA:454887 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia |
OMIM:222100 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity, Joint stiffness |
ORPHA:1078 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Flexion contracture, Obesity, Choreoathet... |
OMIM:300055 |
| Congenital Myopathy 9A |
|
Cryptorchidism, Obesity, Akinesia |
OMIM:618822 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment |
ORPHA:98773 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysp... |
ORPHA:247234 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Shyness, Overweight, Generalized joint laxity, Difficulty walking, Dystonia, Abnor... |
ORPHA:280763 |
| Intellectual Developmental Disorder, X-Linked 108 |
|
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder |
OMIM:301024 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P... |
ORPHA:411515 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social interactions, Polyphagia |
ORPHA:329249 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Akinesia, Aggressive behavior, Tremor, Dementia, Gait disturbance,... |
OMIM:606693 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Obesity, Hypogonadism, Cognitive impairment, Micropenis |
OMIM:615994 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... |
OMIM:300148 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Mental d... |
OMIM:219080 |
| East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Hyperaldosteronism, Increased circulating renin level, D... |
ORPHA:199343 |
| Marchiafava-Bignami Disease |
|
Ataxia, Confusion, Aggressive behavior, Depression, Gait ataxia, Dementia, Abnormal emotion, Gait... |
ORPHA:221074 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Ataxia, Hypergonadotropic hypogonadism, Tremor, Cryptorchidism, Obesity, Dep... |
ORPHA:10 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Increased body weight, Depressi... |
OMIM:615830 |
| Familial Cold Urticaria |
|
Arthritis, Polydipsia |
ORPHA:47045 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Tremor, Hyperinsulinemia, Increased body weight, Agitation,... |
ORPHA:276608 |
| Spastic Paraplegia 47, Autosomal Recessive |
|
Waddling gait, Shyness, Overweight, Inability to walk, Flexion contracture, Dystonia |
OMIM:614066 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation |
OMIM:616116 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Irritability, Polydipsia, Failure to thrive |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Polydipsia, Failure to thrive, Diabetes insipidus |
OMIM:304800 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... |
ORPHA:391411 |
| Bardet-Biedl Syndrome 22 |
|
Obesity, Hypogonadism, Polyphagia, Large for gestational age |
OMIM:617119 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Cognitive impairment, Attention deficit hyperactivity disorder, Memory... |
ORPHA:369873 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Akinesia, Depression, Dysphagia, Tremor by anatomical site, Ab... |
ORPHA:97349 |
| Whipple Disease |
|
Ataxia, Anorexia, Cachexia, Depression, Arthritis, Erectile dysfunction, Polydipsia, Hypothyroidism |
ORPHA:3452 |
| Adiposis Dolorosa |
|
Obesity, Depression |
OMIM:103200 |
| Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Agi... |
ORPHA:85282 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, P... |
ORPHA:3157 |
| Parkinson Disease 17 |
|
Tremor, Resting tremor, Akinesia |
OMIM:614203 |
| Chung-Jansen Syndrome |
|
Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, Attention deficit hyperactivity disord... |
OMIM:617991 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Recurrent fractures, Osteopetrosis |
OMIM:611490 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait |
OMIM:619911 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Short attention span, Broad-based gait, Hyperactivity, Ataxia, ... |
ORPHA:98794 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
| Ochoa Syndrome |
|
Cryptorchidism, Polydipsia |
ORPHA:2704 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Mental deterioration, Diaphyse... |
OMIM:618476 |
| Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Irritability, Falls, Gait imbalance, Retrocollis, Dysp... |
OMIM:609454 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability, H... |
ORPHA:3198 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Hypogonadotropic hypogonadism, Osteolysis,... |
ORPHA:35687 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Pulmo... |
OMIM:620141 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh... |
ORPHA:398069 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Osteoporosis, Depression, Increased susceptibility to fractures, Increased... |
ORPHA:189427 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Ataxia, Obesity, Cognitive impairment, Dystonia |
ORPHA:459033 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Choreoathetosis, Blep... |
OMIM:234200 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Dementia, Limb dystonia, Mental deterioration |
OMIM:616840 |
| Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Axial dystonia, Akinesia, Tremor, Irritability, Falls, Gait imbalance, Retrocollis... |
OMIM:601104 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia, Irritability, Joint contracture, Failure to thrive |
OMIM:616881 |
| Pseudopseudohypoparathyroidism |
|
Osteoporosis, Pseudohypoparathyroidism, Cognitive impairment, Obesity |
OMIM:612463 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Inability to walk, Cryptorchidism, Flexion contracture... |
OMIM:615547 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Inability to walk, Irritability, Joint contra... |
OMIM:617864 |
| Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Akinesia, Tremor, Abnormal pancreas morphology, Limb atax... |
ORPHA:48818 |
| Luscan-Lumish Syndrome |
|
Shyness, Aggressive behavior, Irregular menstruation, Advanced ossification of carpal bones, Obes... |
OMIM:616831 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Ataxia, Hypospadias,... |
ORPHA:209905 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Mental deterioration, Obesity, Lo... |
ORPHA:163681 |
| 48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Tremor, Cryptorchidism, Obesity, Joint hyperflexibility, Radi... |
ORPHA:96263 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, A... |
ORPHA:100924 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... |
ORPHA:91351 |
| Immunodeficiency 61 |
|
Arthritis, Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Wilson Disease |
|
Abnormality of the menstrual cycle, Aggressive behavior, Hypersexuality, Increased body weight, D... |
ORPHA:905 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Ataxia,... |
ORPHA:478 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hyperaldosteronism, Dexamethasone-sup... |
ORPHA:369929 |
| 14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism |
ORPHA:261229 |
| Wolfram Syndrome |
|
Diabetes mellitus, Ataxia, Joint stiffness, Dementia, Hypogonadism, Delayed puberty, Male hypogon... |
ORPHA:3463 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Polydipsia, Reduced circulating pr... |
ORPHA:95513 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:98793 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age |
OMIM:240900 |
| Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:98754 |
| Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Rickets, Cognitive impairment, Polydipsia, Failure to thrive |
ORPHA:411629 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:177904 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Progressive neurologic deterioration, Large for gestational age, Tremor, Hyperinsulinemia, Increa... |
ORPHA:263455 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:177901 |
| Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Hypospadias, Akinesia |
OMIM:619334 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... |
ORPHA:143 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity |
ORPHA:177910 |
| Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
OMIM:616222 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Short attention span, Craniosynostosis, Aggressive behavior, Obesity, Joint hypermobility |
OMIM:619056 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Akinesia, Cryptorchidism, Arthrogryposis mu... |
ORPHA:994 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Increased circulating renin level, ... |
OMIM:612780 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Ataxia, Hypogonadotrop... |
OMIM:308750 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Advanced ossification of carpal bo... |
OMIM:614613 |
| Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ... |
ORPHA:91 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Osteoporosis, ... |
ORPHA:3409 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Dystonia, Precocious puberty, Inability to wa... |
ORPHA:845 |
| Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy... |
ORPHA:97279 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... |
ORPHA:411511 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Impaired social interactions,... |
OMIM:612469 |
| Hyperparathyroidism, Neonatal Severe |
|
Recurrent fractures, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level,... |
OMIM:239200 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body weight, Congen... |
OMIM:614450 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Abnormal repe... |
OMIM:617796 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Decreased skull ossification, Testicular atrophy |
OMIM:601163 |
| Congenital Myopathy 12 |
|
Small for gestational age, Akinesia, Jaw contracture, Camptodactyly, Joint contracture of the hand |
OMIM:612540 |
| Apparent Mineralocorticoid Excess |
|
Abnormality of circulating cortisol level, Polydipsia, Failure to thrive, Decreased circulating a... |
ORPHA:320 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
| Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Polydipsia, Failure to thrive, Anorexia |
ORPHA:223 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Limitation of joint mobility, Addictive alcohol use, Difficulty walking |
ORPHA:399180 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... |
ORPHA:99880 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Azoospermia, Impotence, Testicula... |
OMIM:235200 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Polyd... |
ORPHA:18 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... |
ORPHA:2234 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia, Progressive neurologic deterioration, Dysphagia, Opisthotonus, Decreased body weight, A... |
OMIM:608013 |
| Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Flexion contracture, Osteoporos... |
ORPHA:86309 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... |
ORPHA:293987 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
| Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... |
OMIM:305400 |
| Lesch-Nyhan Syndrome |
|
Dystonia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Dysphagia, Podagra, Testicular ... |
OMIM:300322 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Craniosynostosis, Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, I... |
ORPHA:261197 |
| Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Progressive neurologic deterio... |
OMIM:219800 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Flexion contract... |
ORPHA:500055 |
| Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Pseudohypoparathyroidism, Obesity, Subcutaneous ossification, Elevated circulating ... |
OMIM:103580 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Akinesia |
OMIM:607598 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Diabetes insipidus, Tremor, Dysphagia, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
| Gitelman Syndrome |
|
Salt craving, Ataxia, Increased circulating renin level, Delayed puberty, Polydipsia, Failure to ... |
OMIM:263800 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar... |
ORPHA:93111 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the thyroid gland, Self hugging, Increased body weight, Head-bangin... |
OMIM:182290 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Joint stiffness, Osteoporos... |
ORPHA:465508 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Flexion contracture, Akinesia, Increased susceptibility to fractures |
OMIM:253290 |
| Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Decreased... |
ORPHA:231580 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenor... |
OMIM:157640 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Vestibular areflexia, Osteopetrosis, Dystonia |
ORPHA:3240 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... |
OMIM:612462 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy |
OMIM:160900 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurr... |
OMIM:617600 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Memory impairment, Dementia... |
ORPHA:2822 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia |
OMIM:618249 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Hypogonadism, Obesity |
OMIM:616629 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Flexion contracture, Exaggerated startle response |
OMIM:618201 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hypoplasia of penis, Hyperactivity, Camptodactyly of finger, Cachexia, Aggressi... |
ORPHA:85293 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... |
OMIM:608800 |
| Adiposis Dolorosa |
|
Obesity, Depression, Arthritis, Memory impairment, Hypothyroidism |
ORPHA:36397 |
| Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Ataxia, Obesity |
OMIM:245800 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Cryptorchidism, Obesity, Camptodactyly, Failure to thrive, Self-mutilation |
ORPHA:412035 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... |
ORPHA:79444 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
| Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Precocious puberty in females, Aggressive behavior, Trem... |
ORPHA:72 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... |
ORPHA:769 |
| Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Ectopic ossification, Elevated circulating parathyroid hormo... |
ORPHA:79445 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Failure to thrive, Hypothyroidism, Akinesia |
OMIM:619147 |
| Renal Hypoplasia |
|
Polydipsia, Small for gestational age |
ORPHA:93101 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Short attention span, Penile freckling, Large for gestational age, Obesity, Hydroce... |
OMIM:605309 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
OMIM:176270 |
| Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... |
ORPHA:79443 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
| Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Obesity, Cognitive impairment, Dystonia |
OMIM:616267 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention deficit hyperactivity ... |
OMIM:619680 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Micropenis, Increased body weight, Aggressive behavior |
OMIM:300860 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Flexion contracture |
OMIM:609541 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Obesity, Abdominal obesity, Ol... |
OMIM:219090 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Craniosynostosis, Progressive psychomotor deterioration, Obesity, Delayed pu... |
ORPHA:251004 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Limb tremor, Progressive gait ataxia, Paroxysma... |
OMIM:105830 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... |
OMIM:617301 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Polyphagia, Increased serum leptin, Obesity |
OMIM:617885 |
| 1P21.3 Microdeletion Syndrome |
|
Aggressive behavior, Abnormal eating behavior, Shyness, Obesity, Self-injurious behavior, Self-mu... |
ORPHA:293948 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Joint contracture, Akinesia |
OMIM:225790 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
| Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
| Arthrogryposis Multiplex Congenita 5 |
|
Dystonia, Akinesia, Flexion contracture, Elbow flexion contracture, Hand tremor, Camptodactyly, A... |
OMIM:618947 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression |
OMIM:184850 |
| Toxic Epidermal Necrolysis |
|
Weight loss, Polydipsia, Abnormal vagina morphology, Dysphagia |
ORPHA:537 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures, Difficulty walking |
ORPHA:320406 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
| Oligomeganephronia |
|
Polydipsia, Small for gestational age |
ORPHA:2260 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Small for gestational age, Hyperactive renin-angiotensin system, Hyperaldosteronism, ... |
OMIM:241200 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Confusion, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
| Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Salt craving, Maternal diabetes, Gout, Diabetic ketoacidosis, Type I di... |
ORPHA:358 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive, Reduced bone mineral density |
ORPHA:47159 |
| Hypomagnesemia 3, Renal |
|
Failure to thrive, Polydipsia, Elevated circulating parathyroid hormone level |
OMIM:248250 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Overgrowth |
OMIM:300607 |
| Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Helix Syndrome |
|
Hyperparathyroidism, Polydipsia |
OMIM:617671 |
| Sotos Syndrome |
|
Joint laxity, Aggressive behavior, Cryptorchidism, Increased body weight, Overgrowth, Attention d... |
OMIM:117550 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Cryptorchidism, Exaggerated startle response, Limb joint contracture |
OMIM:620327 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Congenital hypothyroidism, Contractures of the large joints, Cognit... |
OMIM:617527 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Increased bone mineral density, Hypospadias, External genital hypoplas... |
ORPHA:2658 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Irritability, Decreased osteoclast count, O... |
OMIM:259720 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Addictive alcohol use, Cognitive impairment, Memory impairm... |
ORPHA:90065 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Recurrent fractures, Inability to walk, Cryptorchidism, Unsteady gait, Osteoporosis,... |
ORPHA:3063 |
| African Trypanosomiasis |
|
Akinesia, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Aggressive beh... |
ORPHA:3385 |
| Desmosterolosis |
|
Ambiguous genitalia, Increased bone mineral density, Failure to thrive, Osteopetrosis |
ORPHA:35107 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive, Hypothyroidism |
ORPHA:411634 |
| Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
| Sandhoff Disease |
|
Progressive psychomotor deterioration, Impotence, Ataxia, Exaggerated startle response |
OMIM:268800 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Contractures of the large ... |
ORPHA:521426 |
| Arima Syndrome |
|
Polydipsia, Ataxia |
OMIM:243910 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Polydipsia, Hyperaldosteronism |
OMIM:602522 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Irregular menstruation, Osteoporosis, Increased body weight, Polycystic ovaries, Ol... |
ORPHA:264580 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Irregular menstruation, Osteoporosis, Increased body weight, Polycystic ovaries, Ol... |
ORPHA:79240 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Rickets, Large for gestational age |
OMIM:616026 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced... |
ORPHA:353281 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Addictive alcohol use, Confusion, Increased circulating procalcitonin concentr... |
ORPHA:36238 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Biliary hyperplasia, Cognitive impairment, Polydipsia, Pancreatic cysts |
ORPHA:731 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
| Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
| Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response, Failure to thrive |
OMIM:615574 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Broad-based gait, Exaggerated startle response, Dystonia, Abnormality o... |
ORPHA:438213 |
| Bardet-Biedl Syndrome 12 |
|
Hydrometrocolpos, Obesity, Hypogonadism, Cognitive impairment, Vaginal atresia |
OMIM:615989 |
| Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Metrorrhagia, Anorexia, Weight loss |
ORPHA:520 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Abnormal circulating leptin concentration, Enlarged... |
ORPHA:2298 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Ethylene Glycol Poisoning |
|
Addictive alcohol use, Ataxia, Confusion, Euphoria |
ORPHA:31826 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Tremor, Reduced bone mineral density, Osteopetrosis |
ORPHA:667 |
| Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Acute Lung Injury |
|
Addictive alcohol use |
ORPHA:178320 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced... |
ORPHA:353277 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Flexion contracture |
OMIM:253800 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Failure to thrive, Recurrent fractures, Secondary hyperparathyroidism |
ORPHA:2785 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Attention d... |
OMIM:619522 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Porphyria Cutanea Tarda |
|
Diabetes mellitus, Addictive alcohol use |
ORPHA:101330 |
| Cirrhotic Cardiomyopathy |
|
Addictive alcohol use |
ORPHA:57777 |
| Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
