| 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 |
| Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
| Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Cognitive impairment, Dementia |
OMIM:618564 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Gait disturbance, Limb ataxia, Hand t... |
ORPHA:98764 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Delayed speech and language development, Hyperactivity, Aggressive behavior, Large for gestationa... |
ORPHA:356996 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Manganese Poisoning |
|
Aggressive behavior, Memory impairment, Impotence, Akinesia, Postural tremor, Decreased female li... |
ORPHA:306682 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Delayed speech and language development, Absent speech, Emotional lability, Cryptorchidism, Obesity |
OMIM:309585 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
| Dystonia 11, Myoclonic |
|
Anxiety, Writer's cramp, Torticollis, Tremor, Depression, Panic attack, Agoraphobia, Alcoholism |
OMIM:159900 |
| Perry Syndrome |
|
Inappropriate behavior, Frontotemporal dementia, Suicidal ideation, Weight loss, Akinesia, Apathy... |
OMIM:168605 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Hyperactivity, Atrial septal defect, Congenital diaphragmatic hern... |
DECIPHER:39 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Spinocerebellar Ataxia 21 |
|
Gait ataxia, Aggressive behavior, Cognitive impairment, Akinesia, Postural tremor, Apathy, Limb a... |
OMIM:607454 |
| Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Irritability, Weight loss, Polydipsia |
ORPHA:30925 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuff... |
ORPHA:3077 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss, Failure to thrive, Depression, Anxiety, Polydipsia |
ORPHA:178029 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis |
OMIM:607634 |
| Huntington Disease-Like 2 |
|
Memory impairment, Inertia, Weight loss, Apathy, Dementia, Action tremor, Depression, Anxiety, Su... |
OMIM:606438 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Neuromuscular dysphagia, Palilalia, Blepharospasm, Gait imbalance, Falls, Akinesia, Freezing of g... |
ORPHA:240094 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Akinesia, Delayed speech and language development, Dementia, Absent speech, ... |
OMIM:300894 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Increased bone mineral density, Polyphagia, Tall stature, Obesity |
OMIM:618406 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depression, Anxi... |
OMIM:619191 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... |
OMIM:166600 |
| Bardet-Biedl Syndrome 5 |
|
Cognitive impairment, Hypogonadism, External genital hypoplasia, Obesity, Micropenis |
OMIM:615983 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Cachexia, Ataxia, Dysmetria, Tremor, Depression, Anxiety, Dysphagia, Mental deterior... |
OMIM:618093 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Cognitive impairment, Suicidal ideation, Hyperostosis frontalis interna, Abnormal... |
ORPHA:77296 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Weight loss, Akinesia, Resting tremor, Apathy, Dementia, Agitation, Impulsivity, ... |
ORPHA:411602 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Delayed speech and language development, Polyphagia, Truncal obesity, Obe... |
OMIM:615986 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Emotio... |
ORPHA:525731 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Attention ... |
OMIM:613670 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Delayed speech and language development, Exaggerated startle response, Attention deficit hyperact... |
OMIM:617028 |
| Early-Onset Schizophrenia |
|
Restlessness, Suicidal ideation, Decreased female libido, Lack of peer relationships, Low self es... |
ORPHA:96369 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Gait disturbance, Finger joint hypermobility |
ORPHA:436141 |
| Leptin Receptor Deficiency |
|
Aggressive behavior, Decreased response to growth hormone stimulation test, Emotional lability, D... |
OMIM:614963 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Cryptorchidism, Mi... |
OMIM:610628 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Emotional lability, Pigme... |
OMIM:610475 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Delayed speech and language development, Attention deficit hyperactivity disorder, Overweight, Jo... |
OMIM:620065 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis |
ORPHA:85274 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Aggressive behavior, Impaired social interactions, Delayed speech and language ... |
ORPHA:329249 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Delayed speech ... |
ORPHA:457240 |
| Bardet-Biedl Syndrome 11 |
|
Obesity, Hypogonadism |
OMIM:615988 |
| Cystinosis |
|
Hypothyroidism, Gait disturbance, Type I diabetes mellitus, Rickets, Failure to thrive, Delayed p... |
ORPHA:213 |
| Perrault Syndrome 4 |
|
Gait ataxia, Cognitive impairment, Decreased serum estradiol, Bicornuate uterus, Premature ovaria... |
OMIM:615300 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
| Hyperostosis Frontalis Interna |
|
Irregular menstruation, Increased circulating prolactin concentration, Hyperostosis frontalis int... |
OMIM:144800 |
| Corticobasal Syndrome |
|
Memory impairment, Akinesia, Limb dystonia, Gait disturbance, Dementia, Tremor, Dystonia |
ORPHA:454887 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Wrist flexion contracture, Macroorchidism, Flexion contracture, Shuffling gait, Spa... |
OMIM:300055 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Neuromuscular dysphagia, Blepharospasm, Gait imbalance, Falls, Akinesia, Social and occupational ... |
ORPHA:240071 |
| Kufor-Rakeb Syndrome |
|
Aggressive behavior, Akinesia, Torticollis, Gait disturbance, Ataxia, Dementia, Tremor, Dysphagia... |
OMIM:606693 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Large for ... |
OMIM:616116 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Obesity |
ORPHA:1078 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Cognitive impairment, Akinesia, Tremor, Progressive cerebellar ataxia |
ORPHA:98773 |
| Mehmo Syndrome |
|
Gait ataxia, Aggressive behavior, Decreased response to growth hormone stimulation test, Inabilit... |
OMIM:300148 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Secondary amenorrhea, D... |
OMIM:610489 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Delayed speech and language development, Large for gestational age, Polyphagia, Obe... |
OMIM:617119 |
| East Syndrome |
|
Hyperaldosteronism, Inability to walk, Increased circulating renin level, Ataxia, Absent speech, ... |
ORPHA:199343 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... |
OMIM:274300 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Polyphagia, Primary amenorrhea, ... |
OMIM:614962 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
| Stiff Person Spectrum Disorder |
|
Hypothyroidism, Exaggerated startle response, Falls, Emotional lability, Diabetes mellitus, Diffi... |
ORPHA:3198 |
| Congenital Myopathy 9A |
|
Obesity, Akinesia, Cryptorchidism |
OMIM:618822 |
| Spinocerebellar Ataxia 32 |
|
Cognitive impairment, Infertility, Azoospermia, Ataxia, Testicular atrophy |
OMIM:613909 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Shuffling gait, Dysdiadochokinesis, Akinesia, Resting tremor, Ataxia, Dementia, Abno... |
ORPHA:247234 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Emotional lability, Adrenal hyperplasia, Diabetes mellitus,... |
OMIM:615830 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyphagia, Polydipsia |
OMIM:222100 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Happy demeanor, Ataxia, Absent speech, Inappropriate laughter, Polyphagia, Obesity... |
ORPHA:411515 |
| Spinocerebellar Ataxia Type 32 |
|
Cognitive impairment, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar a... |
ORPHA:276183 |
| Bardet-Biedl Syndrome 17 |
|
Cognitive impairment, Hypogonadism, Obesity, Micropenis, Polydipsia |
OMIM:615994 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Postural tremor, Resting tremor, Akinesia, Delayed speech and language development, Freezing of g... |
OMIM:619911 |
| Adiposis Dolorosa |
|
Obesity, Depression, Anxiety |
OMIM:103200 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Delayed speech and language development, Obesity, Attention deficit hyperactivity disorder, Anxiety |
OMIM:618725 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Generalized joint laxity, Hand tremor, Gait disturbance, Impulsivity, Attention deficit hyperacti... |
ORPHA:589905 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Pronoun reversal, Pica, Echolalia, Delayed speech and language development, Overweight, Tall stat... |
OMIM:615032 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
| Postencephalitic Parkinsonism |
|
Tremor by anatomical site, Abnormal aggressive, impulsive or violent behavior, Akinesia, Resting ... |
ORPHA:97349 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Irritability, Polydipsia, Diabetes insipidus |
OMIM:304800 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Irritability, Nephrogenic diabetes insipidus, Polydipsia |
OMIM:125800 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
| Chung-Jansen Syndrome |
|
Aggressive behavior, Anxiety, Joint hypermobility, Impulsivity, Attention deficit hyperactivity d... |
OMIM:617991 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Camptodactyly, Primary amenorrhea, Hypoplasia of the uterus, Generalized joint laxity,... |
ORPHA:432 |
| Aceruloplasminemia |
|
Gait ataxia, Blepharospasm, Memory impairment, Cognitive impairment, Akinesia, Torticollis, Apath... |
ORPHA:48818 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Tremor, Progressive neurologic deteri... |
ORPHA:276608 |
| Atypical Juvenile Parkinsonism |
|
Gait ataxia, Shuffling gait, Inability to walk, Akinesia, Resting tremor, Short stepped shuffling... |
ORPHA:391411 |
| 48,Xxyy Syndrome |
|
Decreased testicular size, Type II diabetes mellitus, Infertility, Radioulnar synostosis, Hypopla... |
ORPHA:10 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398079 |
| Schaaf-Yang Syndrome |
|
Flexion contracture, Inability to walk, Hypogonadism, Delayed speech and language development, Ca... |
OMIM:615547 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Supranuclear Palsy, Progressive, 2 |
|
Retrocollis, Gait imbalance, Falls, Akinesia, Postural tremor, Frontolimbic dementia, Apathy, Axi... |
OMIM:609454 |
| Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Aggressive behavior, Advanced ossification of carpal bones, Shyness, Dela... |
OMIM:616831 |
| Familial Cold Urticaria |
|
Arthritis, Polydipsia |
ORPHA:47045 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cog... |
ORPHA:309246 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
| Parkinson Disease 17 |
|
Tremor, Resting tremor, Akinesia |
OMIM:614203 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Irregular menstruation, Increased susceptibility to fractures, Hyperaldosteronism, Memory impairm... |
ORPHA:189427 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Flexion contracture, Precocious puberty, Small pituitary gland, Primary a... |
ORPHA:398069 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Recurrent fractures, Absence of secondary sex characteristics, Anterior hypo... |
ORPHA:2235 |
| Insulinoma |
|
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Hyperinsuli... |
ORPHA:97279 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
| Autosomal Dominant Cerebellar Ataxia |
|
Cognitive impairment, Akinesia, Postural tremor, Resting tremor, Pseudobulbar paralysis, Torticol... |
ORPHA:99 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell... |
OMIM:601820 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Cognitive impairment, Polyphagia, Attention deficit hyperactivity disorder, Obe... |
ORPHA:369873 |
| Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Gait imbalance, Falls, Akinesia, Frontolimbic dementia, Limb dystonia, Apathy, Axial... |
OMIM:601104 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Delayed speech and language development, Polyphagia, Obesity, Self-mutilation |
OMIM:616521 |
| Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Polydipsia, Weight loss |
ORPHA:95626 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Delayed speech and language development, Obesity |
ORPHA:217377 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Delayed speech and language development, ... |
ORPHA:163681 |
| Mehmo Syndrome |
|
External genital hypoplasia, Hypoplasia of penis, Agitation, Diabetes mellitus, Cryptorchidism, O... |
ORPHA:85282 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
| Central Precocious Puberty |
|
Isosexual precocious puberty, Premature thelarche, Overgrowth, Increased circulating gonadotropin... |
ORPHA:759 |
| Whipple Disease |
|
Hypothyroidism, Arthritis, Cachexia, Ataxia, Erectile dysfunction, Depression, Polydipsia |
ORPHA:3452 |
| Septo-Optic Dysplasia Spectrum |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Maternal diabetes, Hypoplasia of penis, Crypto... |
ORPHA:3157 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98754 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Tremor, Dysphagia |
OMIM:313200 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia, Absent speech, Failure to thrive, Irritability, Joint contr... |
OMIM:616881 |
| Erdheim-Chester Disease |
|
Diabetes insipidus, Osteomyelitis, Weight loss, Increased bone mineral density, Ataxia, Osteolysi... |
ORPHA:35687 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98793 |
| Pseudopseudohypoparathyroidism |
|
Obesity, Cognitive impairment, Osteoporosis, Pseudohypoparathyroidism |
OMIM:612463 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Irregular menstruation, Increased susceptibility to fractures, Memory impairment, Cognitive impai... |
ORPHA:189439 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177904 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity, Craniosynostosis |
ORPHA:88643 |
| Kallmann Syndrome |
|
Decreased fertility, Recurrent fractures, Abnormal morphology of female internal genitalia, Anter... |
ORPHA:478 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Limb dystonia, Dementia, Mental deterioration |
OMIM:616840 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177901 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Decreased osteoclast count, Diaphyseal sclerosis, Mandibular ... |
OMIM:259710 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| 48,Xxxy Syndrome |
|
Abnormal aggressive, impulsive or violent behavior, Hypogonadism, Decreased testicular size, Type... |
ORPHA:96263 |
| Ochoa Syndrome |
|
Urethral obstruction, Polydipsia, Cryptorchidism |
ORPHA:2704 |
| Temple Syndrome |
|
Flexion contracture, Precocious puberty, Small for gestational age, Decreased testicular size, De... |
OMIM:616222 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Obesity |
ORPHA:71529 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cognitive impairment, Ataxia, Increased skull ossification, Diaphyseal sclerosis, Inappropriate l... |
OMIM:618476 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hyperaldosteronism, Dysdiadochokinesis, Delayed speech and language development, Increased circul... |
OMIM:612780 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Gait disturbance, Erectile dysfunction, Testicula... |
ORPHA:481 |
| Wilson Disease |
|
Aggressive behavior, Weight loss, Arthritis, Hypersexuality, Abnormality of the menstrual cycle, ... |
ORPHA:905 |
| Wolfram Syndrome |
|
Diabetes insipidus, Hypogonadism, Dementia, Ataxia, Male hypogonadism, Diabetes mellitus, Delayed... |
ORPHA:3463 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Advanced ossification of carpal bones, Delayed speech and language development, Di... |
OMIM:614613 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Impaired social interactions, Delayed speech and language development, Maturi... |
ORPHA:254531 |
| X-Linked Intellectual Disability, Hedera Type |
|
Echolalia, Inability to walk, Delayed speech and language development, Gait disturbance, Dysmetri... |
ORPHA:93952 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Obesity |
OMIM:301013 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Cognitive impairment, Obesity, Dystonia, Ataxia |
ORPHA:459033 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Gait imbalance, Limitation of movement at ankles, Happy demeanor, Ataxia, Absent s... |
ORPHA:98794 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Arthrogryposis multiplex congenita, Akinesia |
OMIM:619334 |
| Baralle-Macken Syndrome |
|
Inability to walk, Delayed speech and language development, Absent speech, Obesity, Dystonia |
OMIM:619255 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Delayed puberty, Hypospadias, Hypogonadotropic hypogonadism, Obesity |
ORPHA:141333 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible p... |
ORPHA:369929 |
| Familial Hyperaldosteronism Type I |
|
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
| Wagro Syndrome |
|
Aggressive behavior, Echolalia, Impaired social interactions, Decreased testicular size, Emotiona... |
OMIM:612469 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Memory impairment, Precocious puberty, Dysphagia, Inability to walk... |
ORPHA:845 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Weight loss, Stiff interphalangeal joints, Arthritis, Infertility, Apathy, Erecti... |
ORPHA:465508 |
| Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid ha... |
ORPHA:91 |
| Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:398073 |
| Gaucher Disease, Perinatal Lethal |
|
Decreased body weight, Akinesia, Apathy, Progressive neurologic deterioration, Dysphagia, Opistho... |
OMIM:608013 |
| Infantile Nephropathic Cystinosis |
|
Cognitive impairment, Abnormality of thyroid physiology, Rickets, Failure to thrive, Polydipsia |
ORPHA:411629 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, In... |
OMIM:614450 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Agitation, Tremor, Hy... |
ORPHA:263455 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Palilalia, Hyperactivity, Blepharospasm, Akinesia, Choreoathetosis, Gait disturbance, Ataxia, Dem... |
OMIM:234200 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Hypogonadism, Hypoplasia of penis, Cryptorchidism, ... |
ORPHA:3409 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Uterine leiomyoma, Weight loss, Thyroid carcinoma, Abnormality of the ... |
ORPHA:143 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Hypogonadotropic hypogonadism, Obesity, Polyphagia |
ORPHA:177910 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia |
OMIM:272800 |
| Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Multiple joint contractures, Akinesia, Cryptorchidism, Arthrogryposis mu... |
ORPHA:994 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Aggressive behavior, Delayed speech and language development, Joint hypermobility, Anxiety, Obesi... |
OMIM:619056 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Inability to walk, Absent speech, Failure to thrive, Irritability, ... |
OMIM:617864 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid hemiagenesis, Hyperactivity, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:209905 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent speech, Head titubation, Vestibular areflexia, Osteopetrosis, Dystonia |
ORPHA:3240 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Hypoplas... |
ORPHA:2234 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Delayed speech and language development, Abnormality of the endocrine syste... |
ORPHA:79445 |
| Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Choreoathetosis, Podagra, Testicular atrophy, Dysphagia, Opisthotonus, D... |
OMIM:300322 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hypothyroidism, Pica, Hyperactivity, Small for gestational age, Delayed speech and language devel... |
OMIM:617796 |
| Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... |
ORPHA:66628 |
| Congenital Myopathy 12 |
|
Akinesia, Joint contracture of the hand, Small for gestational age, Camptodactyly, Jaw contracture |
OMIM:612540 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... |
ORPHA:251274 |
| Hyperparathyroidism, Neonatal Severe |
|
Recurrent fractures, Failure to thrive, Elevated circulating parathyroid hormone level, Primary h... |
OMIM:239200 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Akinesia, Small for gestational age, Absent speech, Failure to thrive, Hypospadias |
OMIM:619147 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Increased circulating prolactin concentration, Aggressive behavior, Gonad... |
ORPHA:293987 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Decreased skull ossification |
OMIM:601163 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity, Osteoarthritis |
ORPHA:2206 |
| Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Happy demeanor, Ataxia, Inappropriate laughter, Dysphagia, Abnormal eating behavi... |
ORPHA:411511 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypothyroidism, Cognitive impairment, Hypogonadism, Elevated circulating parathyroid hormone leve... |
OMIM:103580 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Uterine leiomyoma, Parathyroid adenoma, Thyroid carcinoma, Abnormality... |
ORPHA:99880 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Delayed speech and language development, Camptodactyly, Failure to thrive, Cryptor... |
ORPHA:412035 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hyperactivity, Aggressive behavior, Hypogonadism, Decreased testicular s... |
ORPHA:85293 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ost... |
OMIM:235200 |
| Adiposis Dolorosa |
|
Hypothyroidism, Arthritis, Depression, Anxiety, Obesity, Memory impairment |
ORPHA:36397 |
| Adrenocortical Carcinoma |
|
Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Weight loss, Anxi... |
ORPHA:1501 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Cognitive impairment, Elevated circulating thyroid-stimulating hormone concentrat... |
OMIM:612462 |
| Angelman Syndrome |
|
Precocious puberty in females, Hyperactivity, Aggressive behavior, Self-injurious behavior, Inabi... |
ORPHA:72 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Pathologic fracture, Ost... |
OMIM:259700 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hern... |
OMIM:620141 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Self-injurious behavior, Echolalia, Delayed speech and language development,... |
OMIM:300860 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Depression, Anxiety, Agoraphobia, Opisthotonus |
OMIM:184850 |
| Dpagt1-Cdg |
|
Aggressive behavior, Flexion contracture, Head-banging, Emotional blunting, Akinesia, Inability t... |
ORPHA:86309 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Inability to walk, Depression, Absent speech |
OMIM:620114 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology,... |
ORPHA:93111 |
| Senior-Loken Syndrome 9 |
|
Obesity, Osteopenia, Hypogonadism |
OMIM:616629 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Akinesia |
OMIM:607598 |
| Cystinosis, Nephropathic |
|
Weight loss, Rickets, Male hypogonadism, Delayed puberty, Hypophosphatemic rickets, Male infertil... |
OMIM:219800 |
| 16P13.2 Microdeletion Syndrome |
|
Aggressive behavior, Flexion contracture, Hypogonadism, Delayed speech and language development, ... |
ORPHA:500055 |
| Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Osteomalacia, Rickets, Failure to thrive, Polydipsia, Redu... |
ORPHA:18 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Polydipsia, Adrenal hyperplasia |
OMIM:613677 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Irritab... |
OMIM:608643 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Delayed speech and language development, Agitation, Ab... |
OMIM:618056 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Akinesia |
OMIM:253290 |
| Gitelman Syndrome |
|
Increased circulating renin level, Ataxia, Failure to thrive, Delayed puberty, Salt craving, Poly... |
OMIM:263800 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Precocious puberty, Cognitive impairment, Recurrent fractures, Abnormal t... |
ORPHA:457059 |
| Laurence-Moon Syndrome |
|
Obesity, Small scrotum, Micropenis, Ataxia |
OMIM:245800 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Impaired social interactions, Craniosynostosis, Delayed speech and language development, Moderate... |
ORPHA:261197 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Small for gestational age, Delayed speech and language development, Joint hyp... |
ORPHA:96184 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear/anxiety-related behavior, Increased circulating ACTH level, Pituitary adenoma, Emot... |
OMIM:219090 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Obesity, Hypogonadism |
OMIM:615985 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity, Delayed speech and language development |
ORPHA:85286 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Truncal ataxia, Failure to thrive, Choreoathetosis, Akinesia |
OMIM:618249 |
| Prader-Willi Syndrome |
|
Precocious puberty, Adrenal insufficiency, Primary amenorrhea, Abdominal obesity, External genita... |
OMIM:176270 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Renal Hypoplasia |
|
Small for gestational age, Urethral valve, Polydipsia |
ORPHA:93101 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response, Flexion contracture |
OMIM:618201 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gait ataxia, Resting tremor, Secondary amenorrhea, Premature ovarian insufficiency, Hand tremor, ... |
OMIM:157640 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Ataxia, Testicular atrophy, Diabetes mellitus, Tremor, Dysphagia |
OMIM:222300 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Head-banging, Delayed speech and language development, Abnormality of the thyroid ... |
OMIM:182290 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Inability to walk, Gait disturbance, Ataxia, Emotional lability, Dementia, Overweight, Mental det... |
ORPHA:2822 |
| Polycystic Ovary Syndrome 1 |
|
Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Nephrogenic diabetes insipidus, Polydipsia |
ORPHA:223 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Diabetic ketoacidosis, Lo... |
ORPHA:769 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Polydip... |
ORPHA:231580 |
| Arthrogryposis Multiplex Congenita 5 |
|
Flexion contracture, Akinesia, Delayed speech and language development, Elbow flexion contracture... |
OMIM:618947 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Shawl scrotum, Bilateral cryptorchidism, Joint laxity, D... |
OMIM:305400 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Hyperactivity, Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Decrea... |
ORPHA:226313 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis |
OMIM:259730 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Ectopic ossification, Increased bone miner... |
ORPHA:79444 |
| Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Bipolar affective disorder, Neuroendocrine neoplasm, Joint hypermobility, Cr... |
ORPHA:404443 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Aggressive behavior, Hemidystonia, Torticollis, Delayed speech and language development, Happy de... |
OMIM:619680 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Ambiguous genitalia, male, Cryptorchidism, Testi... |
OMIM:608800 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Cushing Disease |
|
Pituitary corticotropic cell adenoma, Suicidal ideation, Adrenal hyperplasia, Paradoxical increas... |
ORPHA:96253 |
| Senior-Boichis Syndrome |
|
Aggressive behavior, Suicidal ideation, Agitation, Attention deficit hyperactivity disorder, Poly... |
ORPHA:84081 |
| Ataxia-Oculomotor Apraxia 4 |
|
Cognitive impairment, Obesity, Dystonia, Ataxia |
OMIM:616267 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Obesity, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Ectopic ossification, Hyperostosis frontal... |
ORPHA:79443 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Apathy, Dystonia, Dementia |
OMIM:272750 |
| 1P21.3 Microdeletion Syndrome |
|
Aggressive behavior, Self-injurious behavior, Shyness, Delayed speech and language development, J... |
ORPHA:293948 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Self-injurious behavior, Delayed speech and language development, Moderate re... |
ORPHA:261652 |
| Angelman Syndrome |
|
Paroxysmal bursts of laughter, Hyperactivity, Progressive gait ataxia, Absent speech, Limb tremor... |
OMIM:105830 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture, Inability to walk |
OMIM:609541 |
| Macrocephaly/Autism Syndrome |
|
Delayed speech and language development, Large for gestational age, Joint laxity, Hydrocele testi... |
OMIM:605309 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, Ab... |
OMIM:194072 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Echolalia, Increased bone mineral density, Coarse metaphyseal trabecularization, Facial hyperosto... |
ORPHA:2780 |
| Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Asymmetric septal hypertrophy, Inguinal hernia, Hepatomegaly, Splenomegaly, Umbili... |
OMIM:252900 |
| Sotos Syndrome |
|
Aggressive behavior, Delayed speech and language development, Joint laxity, Absent speech, Overgr... |
OMIM:117550 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Anxiety, Dystonia, Broad-based gait |
ORPHA:438216 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Joint contracture, Akinesia |
OMIM:225790 |
| Toxic Epidermal Necrolysis |
|
Weight loss, Dysphagia, Abnormality of the urethra, Polydipsia, Abnormal vagina morphology |
ORPHA:537 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Delayed puberty, Polyphagia, Obesity, Craniosynostosis, Progressive psychomo... |
ORPHA:251004 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures, Difficulty walking |
ORPHA:320406 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism, Dysphagia |
OMIM:160900 |
| Gitelman Syndrome |
|
Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of the pancreas, ... |
ORPHA:358 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia, Absent speech |
OMIM:618598 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperaldosteronism, Small for gestational age, Increased circulating renin level, Failure to thri... |
OMIM:241200 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Flexion contracture, Hip contracture, Elbow flexion contracture, Jo... |
OMIM:617301 |
| X-Linked Intellectual Disability, Snyder Type |
|
Recurrent fractures, Inability to walk, Delayed speech and language development, Camptodactyly, D... |
ORPHA:3063 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Suicidal ideation, Atypical pulmonary carcinoid tumor, Adre... |
ORPHA:99889 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
| Developmental And Epileptic Encephalopathy 8 |
|
Overgrowth, Exaggerated startle response |
OMIM:300607 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hypogonadism, External genital hypoplasia, Increased bone mineral density, Elbow ankylosis, Abnor... |
ORPHA:2658 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Oligomeganephronia |
|
Small for gestational age, Polydipsia |
ORPHA:2260 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Small for gestational age, Pericardial effusion, Abnormal tri... |
ORPHA:555874 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Delayed speech and language development, Failure to thrive, Delayed puber... |
ORPHA:264580 |
| Proximal Renal Tubular Acidosis |
|
Failure to thrive, Polydipsia, Reduced bone mineral density |
ORPHA:47159 |
| Hypomagnesemia 3, Renal |
|
Failure to thrive, Elevated circulating parathyroid hormone level, Polydipsia |
OMIM:248250 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Contractures of the large joints, Cognitive impairment, Failure to ... |
OMIM:617527 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Delayed speech and language development, Polycystic ovaries, Oligomenorrh... |
ORPHA:79240 |
| Helix Syndrome |
|
Hyperparathyroidism, Polydipsia |
OMIM:617671 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Osteopetrosis, Increased bone mineral density, Irritability, Decreased osteoclast count, Cranial ... |
OMIM:259720 |
| Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
| Steinert Myotonic Dystrophy |
|
Impotence, Inability to walk, Secondary hyperparathyroidism, Ovarian carcinoma, Non-medullary thy... |
ORPHA:273 |
| Desmosterolosis |
|
Increased bone mineral density, Ambiguous genitalia, Osteopetrosis, Failure to thrive |
ORPHA:35107 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Contractures of the large joints, Hyperextensibility of the finger ... |
ORPHA:521426 |
| African Trypanosomiasis |
|
Aggressive behavior, Impotence, Weight loss, Akinesia, Abnormality of circulating cortisol level,... |
ORPHA:3385 |
| Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
| Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration, Impotence, Ataxia |
OMIM:268800 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Cognitive impairment, Delayed speech and language development, Ataxia, Tremor, Progressive neurol... |
OMIM:614947 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:600955 |
| Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Hypothyroidism, Polydipsia |
ORPHA:411634 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
| Meningioma |
|
Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo... |
ORPHA:2495 |
| Bardet-Biedl Syndrome 12 |
|
Cognitive impairment, Hypogonadism, Hydrometrocolpos, Vaginal atresia, Obesity |
OMIM:615989 |
| Arima Syndrome |
|
Polydipsia, Ataxia |
OMIM:243910 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Increased susceptibility to fractures, Increased circulating prolactin ... |
ORPHA:54595 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:94086 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Diabetes mellitus, Large for gestational age |
OMIM:616026 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hyperaldosteronism, Polydipsia |
OMIM:602522 |
| Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fis... |
OMIM:614294 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the anterior pituitary, Hypothyroidism, Exaggerated startle response, Precocious p... |
ORPHA:438213 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Biliary hyperplasia, Cognitive impairment, Polydipsia |
ORPHA:731 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Decreased body weight, Enlarged polycystic ovaries, Weight loss, Increased seru... |
ORPHA:2298 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Hypogonadism, External genital hypoplasia, Pathologic fracture, Diabetes mellitus, Osteopenia, Cr... |
OMIM:614231 |
| Asparagine Synthetase Deficiency |
|
Failure to thrive, Exaggerated startle response |
OMIM:615574 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hyperactivity, Agitation, Weight loss |
ORPHA:424 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... |
ORPHA:1359 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Tremor, Osteopetrosis, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Flexion contracture |
OMIM:253800 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Osteopetrosis, Recurrent fractures, Secondary hyperparathyroidism |
ORPHA:2785 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Imperforate hymen, Delayed speech and language development, Urethra... |
OMIM:619522 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
