Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H... |
ORPHA:172 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Increased neuronal autofluoresc... |
OMIM:610003 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc... |
OMIM:615362 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Bilateral tonic-clonic seizure, Abnormal ... |
OMIM:162350 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Dysphagia, Gait ataxia, Han... |
OMIM:617862 |
Huntington Disease |
|
Cerebellar atrophy, Chorea, Gait ataxia, Depression, Seizure, Bradykinesia, Gliosis, Neuronal los... |
OMIM:143100 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Astrocytosis, Inappropriate behavior, Disinhibition, Myoclonus... |
OMIM:600795 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... |
OMIM:611726 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Ambiguo... |
ORPHA:90791 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Seizure, Agitation |
OMIM:141500 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... |
ORPHA:289548 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita... |
ORPHA:90794 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Reduced bone min... |
ORPHA:168558 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseu... |
OMIM:612462 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia |
OMIM:615945 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, ... |
OMIM:618090 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Cachexia, Tremor, Chorea, D... |
OMIM:618093 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Cerebellar atrophy, Seizure, Inappropriate laughter, Gait ataxia |
OMIM:619323 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Dystonia, Aggressive beha... |
OMIM:607136 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... |
OMIM:241410 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial... |
OMIM:611694 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Limb dystonia, Depression, Gait ataxia, Seizure,... |
ORPHA:71517 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Weight loss, Pr... |
ORPHA:248111 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Pseudohypoparathyroidism, Type Ia |
|
Short stature, Osteoporosis, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypogonadism, ... |
OMIM:103580 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Truncal ataxia, Limb ataxia, Choreoathetosis,... |
OMIM:616230 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... |
OMIM:600143 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Reduction of oligodendroglia, Writer's cramp, Dys... |
OMIM:312080 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Oslam Syndrome |
|
Neoplasm, Osteosarcoma |
OMIM:165660 |
Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... |
OMIM:618141 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... |
OMIM:608636 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Seizure, Ataxia, Generalized myoclonic seizure |
OMIM:614706 |
Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... |
OMIM:619605 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-... |
OMIM:618917 |
Pseudopseudohypoparathyroidism |
|
Short stature, Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulat... |
ORPHA:79445 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Episodic Ataxia, Type 9 |
|
Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ... |
OMIM:618924 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Anemia |
ORPHA:100025 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... |
OMIM:614736 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Seizure, Hyperactivity, Ataxia |
OMIM:613402 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
X-Linked Intellectual Disability, Van Esch Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Short stature, Crypto... |
ORPHA:163976 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy, Seizure, Failure to thrive |
OMIM:615596 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Hypomagne... |
ORPHA:398063 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia |
ORPHA:217012 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, Dysphagia |
OMIM:613925 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:3363 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... |
ORPHA:330050 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis atrophy |
OMIM:617018 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellitus, Splenomegaly, Insulin resis... |
OMIM:612526 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Seizure, Myoclonus, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Limb ataxia, Gait ataxia |
OMIM:614322 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Short stature |
ORPHA:2204 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Dysdiadochokinesis, Broad-based gait |
OMIM:605388 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffi... |
ORPHA:199299 |
Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio... |
ORPHA:57196 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Autosomal Spastic Paraplegia Type 30 |
|
Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Distal sensory impairment, Diff... |
ORPHA:101010 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... |
ORPHA:85138 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Myoclonus, Atroph... |
ORPHA:225154 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Short stature, Patchy osteosclerosis, Postnatal growth r... |
ORPHA:2323 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Increased circulating ferritin... |
ORPHA:465508 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... |
OMIM:604367 |
Short Stature Due To Ghsr Deficiency |
|
Short stature, Abnormality of body weight, Hypoglycemia, Growth delay, Decreased body weight, Del... |
ORPHA:314811 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Focal dyst... |
OMIM:605361 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Difficulty walking, Ce... |
ORPHA:171622 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Generalized dystonia, Ataxia, Corpus callosum atrophy, Inability to walk, Sei... |
OMIM:619389 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiad... |
OMIM:604326 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Epileptic spasm, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Cere... |
OMIM:614254 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
ORPHA:361 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Growth delay, Hypogonadism, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Chorea, Cerebral atrophy, Irritability, Seizure, Cerebellar vermis atrophy |
OMIM:613811 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Aggressive behavior, Gait ataxia, Depression, Gl... |
OMIM:618369 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c... |
ORPHA:556037 |
Developmental And Epileptic Encephalopathy 44 |
|
Cerebellar atrophy, Infantile spasms, Cerebral atrophy, Athetosis, Irritability, Seizure, Dystoni... |
OMIM:617132 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c... |
ORPHA:556030 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy |
ORPHA:363432 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu... |
OMIM:301020 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Growth delay, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosp... |
OMIM:619073 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Osteomyelitis, Craniosynostosis, Thro... |
OMIM:259700 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Growth delay, Hypokalemia, Hyperaldosteronism, Increased circulating... |
OMIM:214700 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic failure, Elevated circulating creatinine concen... |
OMIM:617872 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... |
ORPHA:171706 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Bilateral tonic-clonic seizure, Focal-ons... |
OMIM:204300 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk |
OMIM:618468 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Impulsivity, T... |
OMIM:619028 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... |
ORPHA:36913 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Gait ataxia, Central nervous system degeneration, Progressive cerebellar ataxia, ... |
ORPHA:282166 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... |
ORPHA:91347 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... |
OMIM:256731 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Mild postnatal growth retardation, Short stature, Cryptorchidism, Neon... |
OMIM:101800 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Postnatal growth retardation, Decreased skull ossification, Cortical thickening of long bone diap... |
ORPHA:93324 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Gait disturbance |
ORPHA:98766 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia |
OMIM:615593 |
X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Hypospadias, Short st... |
ORPHA:163971 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Dystonia, Ataxia, Corpus callosum atrophy, Dysmetria, Cerebral atrophy, Chore... |
OMIM:618088 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Cr... |
OMIM:614732 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Short stature, Decreased response to growth hormone s... |
ORPHA:94089 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... |
OMIM:616981 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Nescav Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Cerebral atrophy, Seizure, Cerebellar vermis atrophy |
OMIM:614255 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Trun... |
ORPHA:363710 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Seizure, Gliosis, Global brain atrophy |
OMIM:236792 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Osteosarcoma |
OMIM:260500 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... |
ORPHA:94086 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Decreased liver function, Difficulty walking, ... |
ORPHA:512260 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:603233 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Dysphagia, Intention tremor, Action tremor |
OMIM:302500 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Difficulty walking, Spastic gait, Cerebral atrophy |
OMIM:611252 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Short stature, Limitation of joint mobility |
ORPHA:166277 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure |
OMIM:615705 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Cerebellar atrophy, Seizure, Brain atrophy |
OMIM:618741 |
Autosomal Recessive Primary Microcephaly |
|
Growth delay, Abnormal cortical bone morphology, Short stature |
ORPHA:2512 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... |
OMIM:203330 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Ataxia, Impaired proprioception, Dysmetria, Pseudobulbar paralys... |
OMIM:613908 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Cerebral ... |
OMIM:617493 |
Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... |
ORPHA:249 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Short stature, Hyp... |
OMIM:617053 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Decreased skull ossification, Cortical thickening of... |
ORPHA:93325 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H... |
ORPHA:90790 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Bilateral tonic-clonic seizure, Decreased response to growth hormone s... |
ORPHA:457240 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Hypoplasia of the pons, Fo... |
OMIM:619301 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decre... |
OMIM:614559 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste... |
ORPHA:53 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, G... |
OMIM:271980 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo... |
OMIM:617810 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Irritability, Dystonia, Failure to thrive |
OMIM:618237 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Glucocort... |
ORPHA:171876 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... |
OMIM:610600 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... |
ORPHA:432 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi... |
OMIM:601678 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79444 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Seizure, Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy |
OMIM:618730 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Short stature, Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentr... |
OMIM:619868 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Impaired tandem gait, Brady... |
OMIM:300423 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Short stature, Delayed epiphyseal ossification, Limited elbo... |
ORPHA:79106 |
Congenital Disorder Of Glycosylation, Type Iiz |
|
Seizure, Diffuse cerebellar atrophy |
OMIM:620201 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Fai... |
OMIM:609056 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... |
OMIM:203800 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Cerebral atrophy, Dysphagia... |
OMIM:617435 |
Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Ovarian cyst, Increased ... |
ORPHA:562 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Dystonia, Failure to thriv... |
OMIM:618276 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... |
OMIM:617994 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Slender build, Aggressive behavior |
OMIM:617709 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Seizure, Cerebellar hypoplasia, Attention deficit hy... |
OMIM:619971 |
Periventricular Nodular Heterotopia 8 |
|
Seizure, Cerebellar vermis atrophy |
OMIM:618185 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... |
OMIM:606407 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hyp... |
ORPHA:93160 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior, Depression |
OMIM:603204 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Failure to thrive, Short stature, Abnormal v... |
ORPHA:2315 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Developmental And Epileptic Encephalopathy 31A |
|
Diffuse cerebral atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inabili... |
OMIM:616346 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure ... |
OMIM:602361 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypothyroidism, Hyperlipidemia, Growth delay, Hypoalbuminemia, Hypopro... |
OMIM:256300 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Gait ataxia, Seizure, Myoclonus, Dystonia |
OMIM:607317 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Seizure, Hypoplasia of the pons, Cerebral atrophy |
OMIM:618973 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sp... |
OMIM:264700 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Generalized myoclonic seizure |
OMIM:610951 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Emotional lab... |
OMIM:617171 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Cerebe... |
OMIM:224050 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Seizure, Cerebral atrophy, Dystonia |
OMIM:617899 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Chiari type I malformation, Bradykinesia, Dystoni... |
OMIM:617836 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, I... |
OMIM:601198 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Increased extraneuronal autofluorescent lipopigment, Increased ne... |
OMIM:204200 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Cryptorchidism, Flexion contracture, Hypoproteinemia |
OMIM:608093 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabe... |
ORPHA:79083 |
Burkitt Lymphoma |
|
Hyperuricemia, Abnormality of the ovary |
ORPHA:543 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Hypoalbuminem... |
OMIM:618347 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal o... |
ORPHA:289157 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79443 |
Oslam Syndrome |
|
Osteosarcoma |
ORPHA:2760 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Short stature, Abnormality of the tonsils, ... |
ORPHA:47 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Myocl... |
OMIM:619302 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Streak ovary, Premature ovarian insuffici... |
ORPHA:3464 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Juvenile Paget Disease |
|
Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse met... |
ORPHA:2801 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Pancreatitis... |
ORPHA:247585 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... |
ORPHA:100024 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy,... |
ORPHA:263516 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... |
ORPHA:79263 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... |
ORPHA:90796 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Short stature, Hyperuricemia, Hypoglycemia |
ORPHA:364 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia, Neonatal death, C... |
OMIM:608104 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Waddling gait, Shyness, Overweight, Seizure, Difficulty walking, Dystonia, Ab... |
ORPHA:280763 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardation, Insulin res... |
ORPHA:73272 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Dysmetria, Progressive cerebellar ataxia, Progressive gait ... |
ORPHA:284332 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Abnormal eating ... |
ORPHA:101039 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... |
ORPHA:95512 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Chorea, Cerebral atrophy, Dysphagia, Sei... |
OMIM:617672 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Progressive cerebellar ... |
OMIM:607346 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Failure to thrive, D... |
OMIM:203400 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... |
ORPHA:98818 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar atax... |
ORPHA:276193 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Mantle Cell Lymphoma |
|
Splenomegaly, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
Cln3 Disease |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seiz... |
ORPHA:228346 |
Kenny-Caffey Syndrome, Type 1 |
|
Proportionate short stature, Birth length less than 3rd percentile, Hypocalcemia, Hypomagnesemia,... |
OMIM:244460 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... |
ORPHA:77297 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Growth delay, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Toot... |
ORPHA:89937 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Hypoglycemia, Hyperc... |
ORPHA:95409 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... |
OMIM:127000 |
Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, I... |
OMIM:617166 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Dysmetria, Seizure, Atrophy/Degeneration... |
OMIM:617954 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the ute... |
ORPHA:1655 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... |
ORPHA:94090 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Hepatomegaly, Dystonia, Ataxia, Irritability, Seizure, Brain atrophy, Dysphag... |
OMIM:618226 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Short stature, Hypoalbuminemia, Hypopituitarism, Hypothyroidism, Joint hype... |
OMIM:619013 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Growth delay, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Ankylosis, Hydrox... |
OMIM:239000 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Gli... |
OMIM:203700 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Increased c... |
ORPHA:2298 |
12q14 microdeletion syndrome |
|
Osteopoikilosis, Proportionate short stature |
DECIPHER:76 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Abnormal cerebellum morphology, Unste... |
ORPHA:98762 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Impaired vibration sensation in the l... |
OMIM:610245 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Gait at... |
ORPHA:101110 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Ataxia, Depression, Difficulty walking, Cerebral cortical atrophy |
OMIM:619425 |
Proteus Syndrome |
|
Mandibular hyperostosis, Multiple lipomas, Hemangioma, Lipoma, Calvarial hyperostosis, Facial hyp... |
OMIM:176920 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:99330 |
Metatropic Dysplasia |
|
Severe short stature, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness,... |
ORPHA:2635 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... |
OMIM:615400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Cln5 Disease |
|
Cerebellar atrophy, Hyperactivity, Generalized-onset seizure, Ataxia, Aggressive behavior, Atroph... |
ORPHA:228360 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Resting tremor, Ataxia, Aggressive behavior, Di... |
OMIM:617225 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Postnatal growth retardation, H... |
OMIM:232700 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrenal insuff... |
OMIM:617575 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, G... |
ORPHA:36387 |
Christianson Syndrome |
|
Cerebellar atrophy, Generalized-onset seizure, Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappr... |
ORPHA:85278 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Inability to walk, Athetosis, Seizure, Irritability, Gait disturbance, Myoclo... |
OMIM:618241 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cer... |
OMIM:609924 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Clonic seizure, Chorea, Frontotemporal cerebral atr... |
ORPHA:79097 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ataxia, Bilateral tonic-clonic seizure, Seizure, Generalized tonic ... |
OMIM:611603 |
Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, ... |
OMIM:614487 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Dysmetria, Gait ... |
OMIM:614831 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... |
OMIM:619606 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Short s... |
OMIM:259720 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar atrophy, Chorea, Athetosis, Self-injurious behavior, Seizure, Cerebellar hypoplasia, D... |
OMIM:619922 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Slender build, Joint hypermobility |
OMIM:300831 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Dystonia, Ataxia, Aggressive behavior, Tremor, Chorea, Depression, Impaired s... |
OMIM:619738 |
Developmental And Epileptic Encephalopathy 59 |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-... |
OMIM:617904 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Short stature, Hypoglycemia, Osteoporosis, Growth delay, Delayed puberty, Failure to ... |
ORPHA:369 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:600081 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive |
OMIM:613090 |
Spinocerebellar Ataxia Type 43 |
|
Unsteady gait, Limb ataxia, Distal sensory impairment, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:497764 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Partial absence of speci... |
ORPHA:79324 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Gout, Hyperuricemia, Cholelithiasis, Increase... |
OMIM:232800 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Obesity, Dy... |
ORPHA:93952 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda... |
OMIM:620366 |
Microlissencephaly |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Cerebral cortical atrophy |
ORPHA:1083 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:264350 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonus, Neuronal loss in central nervous system |
ORPHA:204 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia |
OMIM:262700 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Truncal ataxia, Intention tremor |
OMIM:616948 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Depression, Gait ataxia, ... |
ORPHA:98764 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Chorea, Dysmetria, Weight loss, Gait ataxia, Depression, Seizur... |
ORPHA:157941 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cere... |
OMIM:618497 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Elevated circulating aspartate aminotra... |
OMIM:271245 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Short stature, Postnatal growth retardation, Os... |
OMIM:212750 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Distal sensory impairme... |
OMIM:616719 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... |
OMIM:617113 |
Premature Aging Syndrome, Okamoto Type |
|
Neoplasm, Osteosarcoma |
OMIM:601811 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dysphagia, Loss of amb... |
OMIM:617916 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Limb ataxia, Cerebellar hypoplasia, Truncal ataxia |
OMIM:615768 |
Short Stature Due To Partial Ghr Deficiency |
|
Growth delay, Short stature, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Abnormal cerebellar cortex morphology, Distal sensory impairment, Gait a... |
ORPHA:101111 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Unsteady gait... |
ORPHA:98761 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Gait apraxia, ... |
OMIM:615157 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Short ... |
OMIM:241200 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Osteogenesis Imperfecta, Type Xxii |
|
Short stature, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, In... |
OMIM:619795 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons, Myoclonus |
OMIM:619303 |
Dravet Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
Cog7-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Small for gestational age, Jaund... |
ORPHA:79333 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Hepatomegaly, Short stature, Cachexia, Splenomegaly, Type II diabetes ... |
ORPHA:1133 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... |
OMIM:613845 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Growth delay, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:90362 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Seizure, Myoclonus, Generalized... |
OMIM:612016 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gli... |
OMIM:213200 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, St... |
ORPHA:2232 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Recurrent fractures, Neoplasm of the parathyroid g... |
ORPHA:163634 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, Seizure, Ataxia |
OMIM:618879 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Cerebellar atrophy, Epileptic spasm, Inability to walk, Seizure, Dysphagia |
OMIM:617086 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal proprioception, Cerebra... |
OMIM:607250 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Post... |
ORPHA:453533 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Glycogen Storage Disease Ixb |
|
Growth delay, Short stature, Hyperuricemia, Hypoglycemia |
OMIM:261750 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Hand tremor, Depression, Neurodegeneration, Dystonia |
OMIM:615889 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Short stature, Elevated circulating creatine kinase concentration, Cry... |
ORPHA:408 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, Cerebellar hypoplasia, ... |
ORPHA:488635 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Impaired T cell function, Decreased serum zinc, Hypogonadism, Decreased serum test... |
OMIM:201100 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation |
ORPHA:2576 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Aggressive behavior, Tremor, Cerebral atrophy, Bradykinesia, Seizure, Dystonia |
ORPHA:329284 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokines... |
ORPHA:313772 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... |
ORPHA:300373 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Atax... |
ORPHA:168491 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Short stature, Hyperammonemia, Centra... |
ORPHA:1667 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:245570 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggr... |
OMIM:619639 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increased circulating and... |
ORPHA:79320 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia |
ORPHA:139485 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se... |
ORPHA:382 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Myoclonic seizure, Self-injurious behavior, Abnormal repeti... |
OMIM:619690 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Cerebral atrophy, Seizure, Neurodegeneration, Gliosis,... |
OMIM:256600 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper... |
OMIM:619191 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... |
ORPHA:199296 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Hypothyroidism, Short stature, Osteoporosis, Increased suscept... |
ORPHA:79259 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating f... |
OMIM:603553 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Cryptorchidism, Athetosis, Dystonia, Failure... |
OMIM:619310 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to wal... |
ORPHA:561854 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Micropenis, ... |
OMIM:235255 |
Glycogen Storage Disease Ia |
|
Short stature, Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Growth delay, Xanthelasma, Hyper... |
OMIM:232200 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... |
ORPHA:2585 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, A... |
OMIM:241600 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait... |
ORPHA:208513 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Seizure, Ataxia |
OMIM:617207 |
Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification, Short st... |
ORPHA:2097 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Progressive ce... |
OMIM:605259 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Continuous Spikes And Waves During Sleep |
|
Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-on... |
ORPHA:725 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, Gait disturbance, Dysphagia, Failure to th... |
ORPHA:309162 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Generalized non-... |
OMIM:618170 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:22 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia |
ORPHA:284271 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebral atrophy, Status epilepticus, Myoclonus, Dystonia, Generalized myoclonic seizure,... |
ORPHA:352596 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myo... |
ORPHA:98763 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Kohlschutter-Tonz Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,... |
OMIM:226750 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Intention tremor |
OMIM:608029 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Limb ataxia,... |
ORPHA:284324 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Hypercalcemia, Neoplasm o... |
ORPHA:97289 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Dystonia, Dysmetria, Seizure, Atrophy/Degeneration affecting the brainstem, F... |
OMIM:618404 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Osteochondroma, Hip contracture, B-cell lymphoma, Ankle flexion contracture, Knee flexion contrac... |
OMIM:620232 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggress... |
OMIM:619580 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Neoplasm of head a... |
ORPHA:180229 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus, Dystonia |
ORPHA:139406 |
Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizu... |
OMIM:618012 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Stillbirth, Neonatal hypoproteinemia |
OMIM:152800 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss, Increas... |
ORPHA:100083 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis |
ORPHA:2591 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Failure to thrive |
OMIM:616494 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Cryptorchid... |
ORPHA:485350 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-c... |
OMIM:618067 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin... |
ORPHA:411593 |
Squalene Synthase Deficiency |
|
Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Bilatera... |
OMIM:618156 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Hypophosphatasia |
|
Short stature, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurrent fractures... |
ORPHA:436 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypothyroidism, Decreased circulating antibody level, Growth delay, Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Ataxia, Dysesthesia, Corpus callosum atrophy, Unsteady gait, Limb tremor, Dys... |
OMIM:614877 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Mast Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Athetosis, Dysdiadochokinesis, Gait disturbance, Dysphagia |
OMIM:248900 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss, Type I... |
ORPHA:1979 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of th... |
ORPHA:324575 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Abnormal salivary gland morphology |
ORPHA:3225 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Splenomegaly, Cere... |
OMIM:610333 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Bone cyst, Hypercalcemia, Anemia |
ORPHA:2668 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia |
OMIM:610539 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Thyroid defect in oxidati... |
ORPHA:95716 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Hypercalcemia, Short stature, Cryptorchidism, Elbow flexion contractur... |
OMIM:618440 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Cerebellar vermis at... |
OMIM:620158 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Cerebellar atrophy, Epilepsia partialis continua, Chorea, Cerebral atrophy, Seizure, Status epile... |
OMIM:618567 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Abnormal cerebellar peduncle morphology, Cerebellar atrophy, Cerebe... |
ORPHA:98 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Clitoral hypertrophy, Hypoglycemia, Fused labia minora |
OMIM:608688 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Reduced radioactive iodine uptake... |
ORPHA:90674 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase... |
ORPHA:89938 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Seizure, Dysphagia, Palatal tremor, Failure to thrive |
ORPHA:363717 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... |
OMIM:617389 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Intrauterine g... |
OMIM:617056 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Intention tremor |
OMIM:613728 |
Mepan Syndrome |
|
Cerebellar atrophy, Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebr... |
ORPHA:508093 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M... |
ORPHA:2382 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Intention tremor |
OMIM:615386 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Short stature, Recurrent fractures, Limitation of joint mobility |
ORPHA:1486 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Chorea, Cer... |
OMIM:616672 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy, Difficulty walking |
ORPHA:468661 |
Lambert Syndrome |
|
Failure to thrive in infancy, Jaundice, Cholestasis, Intrahepatic biliary atresia, Aplasia/Hypopl... |
ORPHA:1296 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Growth delay, Hypoalbumi... |
OMIM:246700 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Irritability, Seizure, Limb dystonia |
OMIM:619125 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Short stature, Cryptorchidism, Hyperkalemia, Growth dela... |
ORPHA:97362 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Anemia |
ORPHA:75233 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Dystonia, Failure to thrive |
OMIM:300475 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pont... |
OMIM:616053 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ... |
OMIM:117360 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Global brain atr... |
OMIM:613721 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Wide anterior fontanel, Elevated circulating long chain fatty acid concentration, ... |
OMIM:614886 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Elevated circulating creatine kinase concentration, Osteolysis, Increased suscepti... |
ORPHA:52430 |
Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Short stature, Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma... |
OMIM:232220 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Small scrotum, Hypospadias, Small for gestational age, Rhizomeli... |
OMIM:607143 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Small for gestational age, Temporal cortical atrophy, Athetosis, Seizure, Lim... |
ORPHA:621 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat... |
ORPHA:529665 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un... |
OMIM:616409 |
Leukodystrophy, Hypomyelinating, 15 |
|
Cerebellar atrophy, Dystonia, Ataxia, Cerebral atrophy, Athetosis, Seizure, Dysphagia, Loss of am... |
OMIM:617951 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... |
OMIM:616127 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Cerebral... |
OMIM:618235 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy |
OMIM:618501 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Short stature, Hyperbilir... |
OMIM:620010 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Tremor, Scissor gait, Oromandibular dystonia, Cerebral atrophy, Bradykinesia,... |
ORPHA:521406 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Focal Cortical Dysplasia, Type Ii |
|
Focal impaired awareness seizure, Astrocytosis |
OMIM:607341 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Seizure, Inability to walk |
OMIM:618324 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Vaginal neoplasm, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Pro... |
ORPHA:2126 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Cerebellar atrophy, Ataxia, Failure to thrive in infancy, Elevated circulating aspartate aminotra... |
OMIM:611182 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Short stature, Hypoglycemia |
ORPHA:366 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sen... |
OMIM:159550 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Decreased proportion of CD8-positive ... |
ORPHA:217260 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... |
ORPHA:95715 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Short stature, Elevated circulating lutein... |
OMIM:305400 |
Rhabdoid Tumor |
|
Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Weight loss, Neoplasm of the liver, Anemia |
ORPHA:69077 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... |
OMIM:619157 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In... |
ORPHA:86816 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sp... |
OMIM:277440 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Torticollis, Impaired temperature sensation, Im... |
OMIM:619686 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Gait ataxia, Seizure |
ORPHA:320385 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Dysmetria, Seizure, Dysdiadochokinesis, Myoclonu... |
OMIM:618356 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 mon... |
OMIM:618412 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Seizure, Dysdiadochokinesis, Neurodegeneration, ... |
OMIM:612319 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Cerebral atrophy, Gait ataxia, Seiz... |
ORPHA:1947 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Cerebral atrophy, Waddling gait |
OMIM:619090 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Gout |
ORPHA:510 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Cerebellar atrophy, Seizure, Dandy-Walker malformation, Inability to walk |
ORPHA:438178 |
Dentin Dysplasia |
|
Increased bone mineral density, Exostoses |
ORPHA:1653 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Hypoglycemia, Osteoporosis, Intrauterine growth retardation |
ORPHA:48431 |
Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Generalized-onset seizure, Cerebral atrophy, Se... |
OMIM:611523 |
Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Osteolysis |
ORPHA:494 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... |
ORPHA:99879 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Ost... |
ORPHA:633 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni... |
ORPHA:352582 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Aggressive behavior, Tremor, Limb ataxia, Weight loss, Gait ataxia, Depressio... |
OMIM:137440 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Osteopenia, Decreased serum testosterone concentration, Premature ovari... |
ORPHA:2959 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Somatic sensory dysfunction, Gait ataxia, Hepatosplenomegaly, Progressive ... |
ORPHA:466794 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy |
ORPHA:86893 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Short stature, Postnatal growth retardation, Fasting hyperinsulinemia, Reduced bone m... |
OMIM:619489 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Short stature, Osteomalacia, Decreased circulating parat... |
ORPHA:157215 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Gliosis, Cerebe... |
OMIM:225753 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Focal im... |
OMIM:615859 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint... |
OMIM:613658 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
Argininemia |
|
Cerebellar atrophy, Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, I... |
OMIM:207800 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Decreased circulating parathyroid hormone level, Abnormal circulating calciu... |
OMIM:241530 |
Sulfite Oxidase Deficiency, Isolated |
|
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Choreoathetosis, ... |
OMIM:272300 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Small for gestational age, Postnatal growth retardation, Cryptorchidism, Abnormal circulating cre... |
ORPHA:319332 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy |
OMIM:212840 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Astrocytosis, Seizure, Difficulty walking, Slender build |
OMIM:611087 |
Rasmussen Subacute Encephalitis |
|
Subcortical cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure with generalized onse... |
ORPHA:1929 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Distal sensory impairment, Depression, Bradykinesia... |
ORPHA:254886 |
Cystic Echinococcosis |
|
Eosinophilia, Abnormality of the testis size, Bone cyst, Weight loss, Ovarian cyst, Increased cir... |
ORPHA:400 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Limb ataxia, Distal sensory impairment, Dysmetria, Progressive cerebellar ata... |
OMIM:603516 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to... |
ORPHA:79243 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Shor... |
ORPHA:2238 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epilepticus, Failure to thrive, Ce... |
OMIM:617082 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
H Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Short stature, Recurrent fractures, Osteolysis, Azoosper... |
ORPHA:168569 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... |
OMIM:616139 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Hypercalcemia, Craniosynostosis, Recurrent fractures, Obesity, Increased blood ure... |
ORPHA:251004 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
Snakebite Envenomation |
|
Hyponatremia, Hypopituitarism |
ORPHA:449285 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail... |
OMIM:228600 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Short stature, Hypoglycemia, Large for gestational age, Rickets,... |
OMIM:616026 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Copper accumulation in liver, Cer... |
OMIM:614946 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Dystonia |
OMIM:618425 |
4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Trem... |
ORPHA:289494 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Multifocal seizures, Upper limb postural tremor, Status epilepticus, Dy... |
ORPHA:477774 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Seizure, Cerebellar vermis atrophy |
OMIM:616721 |
Hyperparathyroidism 4 |
|
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Adrenal insufficienc... |
ORPHA:427 |
Polymicrogyria, Bilateral Temporooccipital |
|
Focal impaired awareness seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal o... |
OMIM:612691 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Hemangiomatosis, Osteolysis involving bones of the upper limbs, Osteol... |
ORPHA:73 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Action tremor, Imp... |
OMIM:300623 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Cerebral atrophy, Bradykinesia, Seizur... |
OMIM:300894 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Dysesthesia, Head titubation, Cerebral atrophy, Seizure, Difficulty w... |
ORPHA:527497 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Corpus callosum atrophy, Depression, Bradykinesia, Seizure, Gliosis,... |
OMIM:221820 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive |
OMIM:602522 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Short stat... |
OMIM:616113 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Spastic gait |
OMIM:607565 |
Autoinflammation With Infantile Enterocolitis |
|
Short stature, Elevated circulating C-reactive protein concentration, Reduced natural killer cell... |
OMIM:616050 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos... |
OMIM:300539 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Generalized dystonia, Bilateral tonic-clonic seizure, Atrophy of the spinal c... |
ORPHA:329308 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... |
ORPHA:95717 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Postnatal g... |
OMIM:617093 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis... |
ORPHA:324964 |
Leukodystrophy, Hypomyelinating, 17 |
|
Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk |
OMIM:618006 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Depression, Seizure, Myoclo... |
ORPHA:79264 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Tremor, Dysmetria, Seizure, Dysphagia, Los... |
OMIM:607694 |
Cach Syndrome |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Dysmetria, Cerebra... |
ORPHA:135 |
Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Dysphagia |
ORPHA:496689 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Choreoathetosis, Limb d... |
OMIM:619054 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Osteoporosis, Ost... |
ORPHA:371428 |
Cystinosis |
|
Short stature, Nephrogenic diabetes insipidus, Rickets, Hypokalemia, Hypophosphatemia, Type I dia... |
ORPHA:213 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebellar Purkinje lay... |
ORPHA:98756 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Adrenal insuff... |
OMIM:619386 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Short stature, Hyperlipidemia, Insulin resistance, Osteolysis, Osteolytic defects of ... |
ORPHA:90154 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Progressive cerebellar ataxia, Prog... |
ORPHA:101112 |
Lesch-Nyhan Syndrome |
|
Podagra, Testicular atrophy, Hyperuricemia, Short stature |
OMIM:300322 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... |
OMIM:300957 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... |
ORPHA:101070 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General... |
ORPHA:86909 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Ataxia, Spastic gait, Dysmetria |
OMIM:610357 |
Immunodeficiency 27A |
|
Weight loss, Increased circulating IgG level, Increased circulating IgM level, Salmonella osteomy... |
OMIM:209950 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... |
OMIM:202010 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Webb-Dattani Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:615926 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Short stature, Hypercalcemia, Rickets, Hypophosphatemic rickets, Elevated ci... |
OMIM:612089 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O... |
OMIM:300148 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Postnatal growth retardation, Rickets, Hypophosphatemia, Glycosuria, ... |
OMIM:227810 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Cerebellar atrophy, Dystonia, Dysphagia, Progressive cerebellar ataxia, Prolonged neonatal jaundi... |
OMIM:618868 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Seizure, Gliosis, Cerebella... |
ORPHA:168486 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Growth delay, Severe short stature, Hypoglycemia |
OMIM:262400 |
Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Ollier Disease |
|
Precocious puberty, Osteolysis, Joint stiffness |
ORPHA:296 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation, Compu... |
OMIM:619405 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in i... |
ORPHA:37042 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Abnormal ne... |
ORPHA:163681 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay |
ORPHA:79238 |
Xanthoma Disseminatum |
|
Diabetes insipidus, Osteolysis |
ORPHA:158003 |
Whipple Disease |
|
Hyponatremia, Cachexia, Insulin resistance, Arthritis, Erectile dysfunction, Hypothyroidism |
ORPHA:3452 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Decre... |
ORPHA:276575 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Dysphagia, Gait disturbance, Trunca... |
OMIM:210000 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking |
OMIM:613608 |
Cystinosis, Nephropathic |
|
Male infertility, Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Short stature, R... |
OMIM:219800 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating g... |
ORPHA:243 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... |
OMIM:613986 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short stature, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Ins... |
ORPHA:90153 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Decreased circulating IgG level, Premature ovarian insufficiency, Hypergonadotropic h... |
OMIM:212065 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Moynahan Syndrome |
|
Short stature, Hypogonadism, Cachexia |
ORPHA:2574 |
Renpenning Syndrome |
|
Severe short stature, Diabetes mellitus, Hypospadias, Cachexia, Joint stiffness, Growth delay, De... |
ORPHA:3242 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar v... |
ORPHA:98755 |
Developmental And Epileptic Encephalopathy 24 |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Ramon Syndrome |
|
Failure to thrive, Diabetes mellitus, Osteolysis |
ORPHA:3019 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, ... |
ORPHA:276556 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Seizure, Ataxia, Gait disturbance |
ORPHA:85317 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention defici... |
OMIM:301029 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Epileptic spasm, Supernumerary nipple, Corpus callosum atrophy, Focal-onset s... |
OMIM:617339 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglyce... |
ORPHA:276580 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... |
ORPHA:2495 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestational age, Hypog... |
ORPHA:79237 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... |
ORPHA:77299 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia, Cerebellar ... |
OMIM:614229 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui... |
ORPHA:1672 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... |
OMIM:616645 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:610127 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Cerebral atrophy, Dysme... |
OMIM:611302 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar... |
ORPHA:93111 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Dysmetria, Distal sensory impairment, Gai... |
OMIM:616505 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Irritability, M... |
OMIM:617290 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Hypocalcemia, Cachexia |
ORPHA:1438 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating creatine kinase concentra... |
ORPHA:264580 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur... |
ORPHA:398079 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Cadds |
|
Cerebellar atrophy, Elevated hepatic transaminase, Cholangitis, Cholestasis, Seizure, Dystonia |
ORPHA:369942 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... |
ORPHA:813 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... |
OMIM:617711 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia |
ORPHA:3319 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Micropenis, ... |
OMIM:614880 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait... |
OMIM:617145 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... |
ORPHA:435934 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, My... |
OMIM:617976 |
Alg8-Cdg |
|
Hyponatremia, Small for gestational age, Camptodactyly, Intrauterine growth retardation, Failure ... |
ORPHA:79325 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Rickets, Growth ... |
ORPHA:2088 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia |
OMIM:211900 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... |
OMIM:137920 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive |
OMIM:269920 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor |
OMIM:601068 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Thin bony cortex |
OMIM:619638 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Seizure, Cerebellar hypoplasia |
OMIM:616171 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Hyperactivity, Dystonia, Ataxia, Impulsivity, Cerebellar gliosis, Unsteady ga... |
ORPHA:35069 |
Severe Canavan Disease |
|
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Irritability, Seizu... |
ORPHA:314911 |
Omenn Syndrome |
|
Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Eosinophilia |
OMIM:603554 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxia, Severe temper tantrums... |
OMIM:617710 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperhidrosis, Hy... |
ORPHA:94093 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Seizure |
OMIM:620317 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Osteopetrosis, Failure to thrive, Anemia |
OMIM:615085 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Cerebral... |
OMIM:617105 |
Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Axial dystonia, Akinesia, Tremor, Cerebral atrophy, Granulovacuolar degeneration, ... |
OMIM:601104 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Decreased b... |
ORPHA:231140 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... |
OMIM:617395 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia, Joint stiffness |
ORPHA:1144 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function |
OMIM:614867 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Hypospadias, Short stature, Cryptorchidism, Gout, Hyperuricemia |
OMIM:300661 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Cerebellar hemisphere hypoplasia... |
OMIM:615095 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Osteoporosis, Weight loss, Hypoalbuminemia, Intrauterine growth retardation, ... |
OMIM:619487 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Gait... |
OMIM:103050 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Myoclonic Epilepsy, Familial Infantile |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas... |
OMIM:616860 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... |
OMIM:618357 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Hypoplasia of the pons, Unste... |
ORPHA:98760 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ... |
OMIM:616834 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Short stature, Hypohidrosis, Hypocalcemia, Hypothyroidism |
ORPHA:1563 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Short stature, Hypocholesterolemia, Failure to thrive, Hypothyroidism |
OMIM:610883 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Cerebral atrophy, Oral-pharyngeal dysphagia |
OMIM:616286 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Decreased testicular size, Broad-based gait, Ataxia, Corpus callosum atrophy,... |
ORPHA:320391 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Impaired vibration sensation in the lower limbs... |
OMIM:614409 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Weismann-Netter Syndrome |
|
Severe short stature, Abnormal cortical bone morphology |
ORPHA:3344 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Bilateral cryp... |
OMIM:619685 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract... |
OMIM:241500 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... |
ORPHA:348 |
Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Seizure, Ataxia |
ORPHA:209967 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... |
OMIM:122860 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Postural trem... |
OMIM:183090 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Dysdiadochokinesis, Loss of ambulation |
OMIM:619806 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Ataxia, Severe temper tantrums, Dysmetria, Gait ataxia, Attention deficit hyp... |
OMIM:614306 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Splenomegaly, Microno... |
ORPHA:309854 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:3222 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:266100 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating creatine kinase concentra... |
ORPHA:79240 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Bone-... |
OMIM:607616 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Irritability, Torticollis, Dystonia |
OMIM:619071 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... |
ORPHA:458803 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Atonic seizure, Ora... |
ORPHA:208447 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Tremor, Axonal degeneration, Dysmetria, Distal sensory impairment, Hand tremo... |
OMIM:302800 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Hyperlipidemia, Menorrhagia, Hyperuricemia |
ORPHA:35909 |
Fibrodysplasia Ossificans Progressiva |
|
Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic ossification in mu... |
ORPHA:337 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non... |
OMIM:607682 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Unsteady gait, Dysmetria, Dysphagia, Positive Rombe... |
OMIM:616479 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, Seizure, Brain atrophy, Myoclonic absence seizure |
OMIM:612621 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Distal 16P11.2 Microdeletion Syndrome |
|
Hyperuricemia, Obesity |
ORPHA:261222 |
X-Linked Progressive Cerebellar Ataxia |
|
Unsteady gait, Limb ataxia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progres... |
ORPHA:1175 |
Alg1-Cdg |
|
Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia, Hypoglycemia |
OMIM:601005 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... |
OMIM:615703 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Short stature, Conjugated hyperbilirubinemia, Rickets, Cholelithiasis, Failure to thrive |
OMIM:211600 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Seizure, ... |
ORPHA:309246 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Fulminant hepatic failure, Hepatomegaly, Cholestasis, Seizure, Global brain atrophy |
OMIM:609060 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... |
OMIM:616341 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Short stature, Osteomalacia, Rickets, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... |
ORPHA:137898 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia |
OMIM:617691 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Chorea, Dysmetria, Gait ataxia, Cerebra... |
OMIM:610217 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Dysmetria |
OMIM:618384 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Postural tremor, Hypoplasia of the pons, Corpus callosum atrophy, Unsteady ga... |
ORPHA:412057 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, B... |
ORPHA:98768 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars... |
OMIM:300554 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Cryptorchidism, Cerebral atrophy, Irritability... |
ORPHA:457205 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Writer's cramp, Chorea, Cerebellar Purkinje la... |
ORPHA:98759 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... |
OMIM:615160 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Generalized-onset seizure, Limb ataxia, Dysmetria, Progressive cerebellar ata... |
ORPHA:284289 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Spinocerebellar Ataxia 27A |
|
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Depression, Gait ... |
OMIM:193003 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia |
OMIM:104290 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Global bra... |
OMIM:618470 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi... |
OMIM:614470 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Mcdonough Syndrome |
|
Cryptorchidism, Short stature, Cachexia |
ORPHA:2471 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Brain atrophy, F... |
ORPHA:369939 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Septate vagina, Uterus d... |
ORPHA:2237 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... |
ORPHA:507 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Gout, Hyperproteinemia, Increased c... |
ORPHA:90041 |
Flynn-Aird Syndrome |
|
Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal insuffici... |
ORPHA:2047 |
Episodic Ataxia, Type 6 |
|
Cerebellar atrophy, Seizure, Cerebellar hypoplasia, Truncal ataxia, Episodic ataxia |
OMIM:612656 |
Gray Platelet Syndrome |
|
Splenomegaly, Myelodysplasia, Thrombocytopenia |
ORPHA:721 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gai... |
ORPHA:352403 |
Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Hypoplasia of the pons, Atrophy/Degeneration affecting the brainstem, Cerebra... |
OMIM:608027 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Peroxisome Biogenesis Disorder 6B |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal vibration sensation, Un... |
OMIM:614871 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Cronkhite-Canada Syndrome |
|
Anemia, Hepatomegaly, Cachexia, Splenomegaly |
ORPHA:2930 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Impaired vibration sensation in the lower limbs,... |
ORPHA:99013 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
OMIM:619065 |
Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:739 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Seizure, Small for gestational age |
OMIM:618302 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia |
OMIM:613092 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Seizure, Ataxia, Gliosis |
OMIM:612936 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia |
OMIM:232400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Seizure, Unsteady gait, Ataxia |
OMIM:300861 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Waddling gait, Degeneration of the lateral corticospinal trac... |
OMIM:607259 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Growth delay, Glycosur... |
ORPHA:411634 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:612438 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia, Gout |
OMIM:162000 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Re... |
ORPHA:2785 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Elevated circulating C-reactive protein ... |
OMIM:612852 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... |
OMIM:616204 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Hypoglyc... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Hypoglyc... |
ORPHA:71526 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni... |
OMIM:615851 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced... |
OMIM:620210 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation |
OMIM:616801 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia, Joint stiffness |
ORPHA:1216 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Hepatomegaly, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Ca... |
OMIM:618143 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Short stature, Hyperg... |
OMIM:307030 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Epileptic spasm, Cerebral atrophy, Myoclonus, Decreased body weight, Failure ... |
OMIM:619060 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Ankle flexion contracture, Increased ... |
ORPHA:100924 |
Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology, Hypercalcemia, Short stature, Hypocalcemia |
ORPHA:557003 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Broad-based gait, Dysmetria, Retrocerebellar cyst, Progressive cerebe... |
ORPHA:363429 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Tremor, Dysmetria... |
ORPHA:1170 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... |
OMIM:602080 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Dystonia |
OMIM:610246 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Astrocytosis, Se... |
ORPHA:258 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Short stature, Osteomalacia, Recurrent fractures, Rickets, Glycosuria, Elevated circu... |
OMIM:613388 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... |
OMIM:308240 |
Liang-Wang Syndrome |
|
Cerebellar atrophy, Ataxia, Generalized non-motor (absence) seizure, Cerebral atrophy, Status epi... |
OMIM:618729 |
Dpm1-Cdg |
|
Cerebellar atrophy, Early onset absence seizures, Hepatic steatosis, Hepatomegaly, Ataxia, Elevat... |
ORPHA:79322 |
Cimdag Syndrome |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Microvesicular hepatic steatosis, Chorea, Cer... |
OMIM:619273 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Short stature, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, ... |
ORPHA:769 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Chorea, Inability to walk, Self-injurious behavior, Convulsive status epilep... |
OMIM:618760 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Increased circulating thyroglobulin level, Reduced radioactive iodine uptake,... |
ORPHA:90673 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity |
OMIM:618406 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Typical ab... |
ORPHA:845 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Hepatomegaly, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Lethar... |
OMIM:604377 |
Cog8-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Seizure, Myoclonus, Atrophy/Degenerati... |
ORPHA:95428 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Torticollis, Head titubation, Truncal ataxia, Limb ataxia, Limb dystonia |
OMIM:617560 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ... |
ORPHA:667 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
Spinocerebellar Ataxia 5 |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Ataxia, Limb ataxia, Dysmetri... |
OMIM:600224 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cerebral atrophy, Seizure, Cerebellar vermis atrophy, Dandy-Walker malformation |
OMIM:616154 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... |
ORPHA:29073 |
Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphy... |
ORPHA:785 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... |
ORPHA:79644 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Impulsivity, Aggressive behavior, Akinesia, Limb ata... |
OMIM:607454 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Seizure, Myoclonus, Febrile ... |
OMIM:612736 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Osteopenia, Calcinosis, Splenomegaly, Growth delay, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Lim... |
OMIM:109150 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Joint laxity, Failure to thrive, Hypospadias, Elevated circulating alpha-fetoprotei... |
OMIM:619991 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Osteopenia, Hip contracture, Severe short stature, Hypercalcemia, Knee flexio... |
OMIM:156400 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Epileptic spasm, Small for gestational age, Bilateral tonic-clonic seiz... |
ORPHA:289266 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Generalize... |
OMIM:615637 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Cerebellar... |
OMIM:620028 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Postnatal growth retardation, Rickets, Abnormal serum bile acid co... |
ORPHA:79303 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
OMIM:603552 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior |
OMIM:309530 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Somatic sensory dysfunction, Diffuse cerebral atrophy, Bilateral tonic-clonic sei... |
ORPHA:199354 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Scissor gait, Cere... |
OMIM:617013 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Depres... |
ORPHA:254881 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia, Hyperhidrosis |
OMIM:614441 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria, Dysphagia |
OMIM:618098 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:617915 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Status epilepticus, Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Atrophy/Degenerati... |
OMIM:620200 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Dysmetria, Loss... |
OMIM:616680 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... |
OMIM:128100 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Irritability,... |
ORPHA:544503 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Inability to walk, Seizure, Cerebellar hy... |
OMIM:616354 |
Spastic Ataxia 3, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... |
OMIM:611390 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase... |
ORPHA:398069 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia |
ORPHA:746 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets,... |
OMIM:307800 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Irritability, Gliosis, Inappropriate laughter, Disinhibition, Emo... |
OMIM:172700 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Choreoathetosis, Seizure, Dysphagia |
OMIM:617664 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Failur... |
OMIM:615285 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Choreoathetosis, Seizure, Dystonia, Failure to thri... |
OMIM:616034 |
Immunodeficiency 32B |
|
Eosinophilia, Impaired oxidative burst, Hypoalbuminemia, Abnormal circulating IgG level, Failure ... |
OMIM:226990 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyp... |
OMIM:618120 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting the brainstem, Cer... |
ORPHA:445062 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffuse goiter, Abnorm... |
ORPHA:64744 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sh... |
OMIM:242150 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis... |
ORPHA:75563 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Familial Dysautonomia |
|
Hyponatremia, Recurrent fractures, Osteolysis, Hypohidrosis, Growth delay, Hyperhidrosis |
ORPHA:1764 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short stature, Osteolysis |
ORPHA:2776 |
Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density, Hypophosphatemia |
ORPHA:2611 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Growth delay, Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Seizure, Attention deficit hyper... |
ORPHA:300573 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Dystonia, Tonic seizure, Chorea, Cerebral atrop... |
OMIM:612389 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Temporal cortical atrophy, Astrocytosis, Fr... |
ORPHA:100070 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Obesity, Cerebral atrophy, ... |
ORPHA:464282 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Decreased response to growth hormone s... |
ORPHA:324737 |
Hereditary Fructose Intolerance |
|
Reactive hypoglycemia, Episodic hyperhidrosis, Hypermagnesemia, Growth delay, Hyperuricemia, Hypo... |
ORPHA:469 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Dystonia, Ataxia, Impulsivity, Inability to walk, Bradykinesia, Seizure, Pontoc... |
OMIM:617854 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Increased circulating gonadotropin level, Gait ataxia, Intention tremor |
OMIM:233400 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... |
ORPHA:1945 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Unsteady gait, Limb ataxia, Gait ataxia, D... |
OMIM:619259 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... |
OMIM:602481 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Short stature, Hypoammonemia, Osteomalacia, Recurrent fracture... |
ORPHA:534 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypo... |
OMIM:619055 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Pa... |
ORPHA:98820 |
Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Micropenis, Neonatal death, Hypocholesterolemia |
OMIM:618810 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Cholestatic liver disease |
OMIM:602114 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Joint hyperflexibility, Limitation of joint mobility, Flexion contracture, Cachexia |
ORPHA:157973 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly... |
ORPHA:6 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy, Dysphagia, Choreoathetosis, Dystonia |
OMIM:618247 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Thyroid lymphangiectasia, Cryptorchidism, Joint contracture of... |
OMIM:235510 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Tremor, Dysphagia |
OMIM:608768 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Cerebellar atrophy, Inability to walk, Seizure, Brain atrophy, Dystonia, Failure to thrive |
OMIM:614739 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Cerebellar atrophy, Dystonia, Impaired distal proprioception, Impaired distal vibration sensation... |
OMIM:258450 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Chorea, Nocturnal seizures, Bradykinesia,... |
OMIM:619725 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Seizures, Benign Familial Infantile, 2 |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Chorea, Unsteady gait, Dysmetria, Gait a... |
ORPHA:397946 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Tremor, Seizure, Status epile... |
OMIM:607426 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Dysphagia, Progressive cerebellar ataxia, Truncal ataxia, ... |
OMIM:183086 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Hsd10 Disease |
|
Ataxia, Tremor, Choreoathetosis, Frontotemporal cerebral atrophy, Seizure, Gait disturbance, Myoc... |
ORPHA:391417 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
Dent Disease 1 |
|
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars... |
OMIM:300009 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Splenomegaly, Cere... |
OMIM:614576 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Primary hyperparathyr... |
OMIM:239200 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi... |
ORPHA:2774 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Cerebellar cyst |
ORPHA:370980 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... |
OMIM:618476 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Developmental And Epileptic Encephalopathy 5 |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Atrophy/Degeneration affecting the brainstem, Cere... |
OMIM:613477 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Osteolysis |
ORPHA:158014 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... |
ORPHA:54251 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... |
ORPHA:37748 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia |
OMIM:203740 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Cryptorchidism, Seizure,... |
OMIM:214150 |
Episodic Ataxia, Type 5 |
|
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive |
OMIM:607765 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Growth delay, Hypoalbuminemia, Hypernatremia, Failure to thrive,... |
OMIM:615508 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Short stature, Hypocalcemia, Failure to thrive, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Focal-onset seizure, Inability to walk, Cerebral atrophy, Seizure, Status epi... |
OMIM:617802 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia... |
ORPHA:2070 |
Wilson Disease |
|
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia... |
OMIM:277900 |
3-Methylglutaconic Aciduria, Type Viia |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Anisopoikilocytosi... |
OMIM:619835 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:609306 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Joint hyperflexibility, Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Failure to thrive, Intrauterine g... |
OMIM:619048 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Limb joint contracture, Central adrenal insufficien... |
OMIM:612079 |
Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Hyperbilirubinemia |
OMIM:301094 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Short stature, Decreased response to growth hormone stimulation test, Central diabe... |
ORPHA:293987 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Short stature, Hypophosphatemia |
OMIM:146350 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Diabetes insipidus, Failure to thrive in in... |
ORPHA:2162 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Epileptic spasm, Inability to walk, Cerebral atrophy, Myoclonic seizure, Seizure |
ORPHA:544469 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Myoclonic seizure, Seizure, Dystonia, Lethargy, Cerebra... |
ORPHA:254913 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Hyperkalemia, Primary adrena... |
ORPHA:275761 |
Stt3B-Cdg |
|
Cerebellar atrophy, Cryptorchidism, Seizure, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo... |
ORPHA:143 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
Filippi Syndrome |
|
Cerebellar atrophy, Cryptorchidism, Seizure, Dystonia, Decreased body weight |
OMIM:272440 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:98754 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Dystonia, Left ventricular hypertrophy |
OMIM:614654 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Choreoathetosis, Seizure, Nonprogressive cerebellar ataxia, Dystonia, Failure... |
ORPHA:431361 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Hepatomegaly, Hepatosplenomegaly, Seizure, Ascites, Failure to thrive, Global... |
OMIM:608776 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Short stature, Postnata... |
ORPHA:96180 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Cryptorchidism, Seizure, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Acute pancreatitis, Hyperammonemia, Weight loss, Recurrent hypoglycemia,... |
ORPHA:20 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Increased propo... |
ORPHA:167 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Osteopenia, Impaired glucose tolerance, Joint stiffness, Postnatal growth retardation... |
OMIM:248370 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Abnormal cerebellum morphology, Dysmetria, Difficulty walking, Dysphagia, Emo... |
OMIM:275900 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Postural tremor, Bilateral tonic-clonic seizure, Gait disturbance |
ORPHA:100988 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s... |
OMIM:619428 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Exostoses of th... |
ORPHA:85188 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Dysmetria |
OMIM:301006 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Tremor, Cryptorchidism, Gait ataxia, Seizure, Abdominal obesi... |
OMIM:300354 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Short stature, Impaired T cell function, Cryptorchidism, Hypocalcemia |
OMIM:192430 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Sarcosinemia |
|
Emotional lability, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor... |
OMIM:611590 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Head titubation, Impai... |
OMIM:615491 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Flexion contracture, Growth delay, Decreased serum zinc,... |
ORPHA:89842 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Cerebellar vermis at... |
OMIM:617988 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Failure to thr... |
ORPHA:26792 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Cerebral atrophy, Euphoria, Seizure, Inappropriate behavior... |
OMIM:221770 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Bile duct proliferation, Hypoalbuminemia, Hyperalaninemia, Failure to thrive |
OMIM:618329 |
Riboflavin Transporter Deficiency |
|
Cachexia, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... |
ORPHA:263455 |
Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis |
ORPHA:391673 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:98793 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Generalized non-motor (absence) seizure, Dystonia |
OMIM:617183 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610743 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Failure to thrive, Hypoglycemia, Methylmalonic acidemia |
ORPHA:289504 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic st... |
OMIM:124000 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:177904 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic sei... |
OMIM:617193 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure, Cerebral atrophy, Dysmetria, Gait ataxia, Spastic gait |
OMIM:615031 |
Spastic Ataxia 9, Autosomal Recessive |
|
Cerebellar vermis atrophy, Impaired distal vibration sensation, Ataxia, Dysmetria |
OMIM:618438 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Limb dysmetria, Distal sensory impairment |
OMIM:600223 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Dystonia, Hypoplasia of the pons, Chorea, Opisthotonus, Seizure, Gliosis, Cerebella... |
OMIM:277470 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Impulsi... |
OMIM:614298 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone st... |
ORPHA:177901 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron, Abnormality of ... |
OMIM:231100 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Rhizomelia, Abnormality of the pancreas, Abnormal bo... |
ORPHA:175 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the... |
OMIM:618325 |
Developmental And Epileptic Encephalopathy 48 |
|
Cerebellar atrophy, Seizure, Status epilepticus, Cerebral atrophy |
OMIM:617276 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Seizure, Gait disturba... |
ORPHA:412217 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... |
OMIM:617350 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:262190 |
Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, To... |
OMIM:619881 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... |
ORPHA:254531 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Small for gestational age, External genital hypoplasia, Hyperhidrosis, Intrauterine... |
ORPHA:231147 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia |
OMIM:618107 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Short stature, Hypoglycemia, Thrombocytopenia, Osteoporosis, Hyperamm... |
OMIM:606054 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating l... |
ORPHA:567548 |
Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat... |
OMIM:619913 |
Developmental And Epileptic Encephalopathy 65 |
|
Cerebellar atrophy, Seizure, Cerebral atrophy |
OMIM:618008 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Oral-pharyngeal dysphagia, Cerebral atrophy, Seizure, Failure to thrive, Cere... |
OMIM:618065 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... |
OMIM:619435 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity, Tracheomalacia |
OMIM:620155 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Bilateral tonic-clonic seizure, ... |
OMIM:261515 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... |
OMIM:274150 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Progressive gai... |
ORPHA:646 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Seizure, Cerebral cortical atrophy, Inability to walk |
OMIM:617481 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Lafora Disease |
|
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali... |
ORPHA:501 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:254800 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Cholestatic liver disease, Acholi... |
ORPHA:65682 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in females, Hyperchole... |
ORPHA:528 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype... |
OMIM:612714 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Hyperhidrosis, Growth delay, Hyperglycinemia, Neonatal death, Intrauterine growth r... |
OMIM:245400 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Mild postnatal growth... |
OMIM:224120 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency |
ORPHA:101006 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine grow... |
OMIM:608747 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Small for gestational age, Failure to thrive in i... |
OMIM:618891 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Myoclonus, Dysmetria, Dysphagia |
OMIM:619780 |
Felty Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis... |
ORPHA:47612 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Inappropriate antidiuretic hormone se... |
ORPHA:79473 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Pancytopenia, Ataxia, Depression, Hepatosplenomegaly, Subcortical cerebral at... |
ORPHA:309288 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Aggressive beha... |
ORPHA:364028 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland,... |
ORPHA:186 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Werner Syndrome |
|
Meningioma, Osteosarcoma |
OMIM:277700 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dysdi... |
OMIM:604391 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Glycogen Storage Disease Ic |
|
Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia, Delayed pub... |
OMIM:232240 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo... |
ORPHA:99880 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Short stature, Cryptorc... |
ORPHA:163979 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis,... |
OMIM:615630 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy |
ORPHA:545 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Hengel-Maroofian-Schols Syndrome |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Seizure, Gait imbalance, Dystonia |
OMIM:619641 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Seizure, Cerebellar vermis atrophy |
OMIM:618793 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Huppke-Brendel Syndrome |
|
Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk |
OMIM:614482 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... |
ORPHA:96184 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Seizure, Superior cerebellar dysplasia, Dandy-Walker malformation |
OMIM:617622 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Depression, Seizure, Cholest... |
ORPHA:79095 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Hepatomegaly, Generalized-onset seizure, Ataxia, Inability to walk, Unsteady ... |
OMIM:618443 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Hyperuricemia, Increased susceptibility t... |
ORPHA:2769 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Fanconi Renotubular Syndrome 1 |
|
Short stature, Osteomalacia, Rickets, Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Stt3A-Cdg |
|
Cerebellar atrophy, Seizure, Failure to thrive, Cryptorchidism |
ORPHA:370921 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short stature, Osteolytic defects of the phalanges of the hand, Joint ... |
ORPHA:2484 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir... |
OMIM:618838 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:616111 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Anemia, Gait disturbance, Atrophy/Degeneration affe... |
OMIM:615838 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Cerebral cortical atrop... |
OMIM:133190 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first... |
OMIM:300243 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis |
ORPHA:42642 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, ... |
OMIM:301072 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia... |
ORPHA:358 |
Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Peritonitis, Elevated... |
ORPHA:36234 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Infa... |
ORPHA:1934 |
East Syndrome |
|
Cerebellar atrophy, Generalized-onset seizure, Salt craving, Ataxia, Inability to walk, Seizure, ... |
ORPHA:199343 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Hyperammonemia, Hyper... |
ORPHA:2394 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Abolished vibration sense, Ataxia, Impaired pain sensation |
OMIM:608703 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Intrauterine growth retardation, Hypoalbuminemia |
OMIM:617021 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Growth delay, Hypoalbuminemia... |
OMIM:251880 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Growth delay, Hypocalcemic seizu... |
OMIM:612301 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... |
OMIM:614381 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... |
OMIM:600740 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Growt... |
OMIM:608612 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Infantile spasms, Cryptorchidism, Cerebral atrophy, Seizure |
OMIM:619797 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypospadias, Hypoglycemia, Hyperammonemia, Intrauterine growth retarda... |
OMIM:618253 |
Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Abnormal pineal melatonin secretion, Increased serum bile acid concent... |
ORPHA:69665 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Failure to thrive, Pan... |
ORPHA:79312 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Hyperuricemia, Gout |
ORPHA:411543 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Cryptorchidism, Flexion contracture, Abnormal circulating creatine kin... |
OMIM:618484 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Elevated circulating parathyroid hormone level, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Dystonia, Progressive cer... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Dystonia, Progressive cer... |
ORPHA:276241 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Weight loss, Reduced bone min... |
OMIM:619377 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Failure to thrive, Intr... |
OMIM:614702 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Hyperuricemia |
ORPHA:411536 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Substantia ... |
ORPHA:276244 |
Japanese Encephalitis |
|
Hyponatremia, Stiff neck, Elbow flexion contracture, Increased circulating IgM level, Focal T2 hy... |
ORPHA:79139 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... |
ORPHA:33355 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Seizure, Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... |
OMIM:145001 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Postnatal growth retardation... |
ORPHA:90321 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly, Failure to thrive, Hyperammonemia |
ORPHA:28 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign... |
OMIM:614575 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism, Failure to thrive, Hypoglycemia, Intrauterine growth retardation |
OMIM:618958 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Hyperkalemia, Short stature |
ORPHA:757 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Failure to thrive, Short stature, Adrenal hypop... |
ORPHA:95496 |
Cockayne Syndrome |
|
Anhidrosis, Diabetes mellitus, Severe short stature, Cachexia, Postnatal growth retardation, Cryp... |
ORPHA:191 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Hypergonadotropic ... |
ORPHA:91 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Limb ataxia, Difficulty walking, Truncal ataxia, Im... |
ORPHA:98772 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Pulmo... |
ORPHA:2136 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hypoglycemia |
OMIM:614741 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Cerebellar atrophy, Cryptorchidism, Partial absence of cerebellar vermis, Unsteady gait, Seizure,... |
ORPHA:329224 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Unilateral Focal Polymicrogyria |
|
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Aggressive behavior, Foc... |
ORPHA:268947 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... |
ORPHA:231214 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Osteolysis, Joint stiffness |
ORPHA:137834 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
ORPHA:53583 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Osteoporosis, Increased body weight, Increase... |
OMIM:615830 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Chorea, Dysmetria, Seizure, Cerebellar vermis atrophy |
OMIM:617931 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Xerostomia, Weight loss, Hypoalbuminemia, Increase... |
ORPHA:85443 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... |
ORPHA:3008 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Glycosuria, Elevated circulating creatinine concentration, Increas... |
OMIM:614817 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Legionnaires Disease |
|
Hyponatremia, Bone marrow hypocellularity, Pancreatitis |
ORPHA:549 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Hypoglycemia, Intrauterine growth retardation, Joint contracture, Fail... |
OMIM:618005 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Failure to thrive, Hypoalbuminemia |
ORPHA:367 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
ORPHA:79233 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Cerebral atrophy, Opisthotonus, Choreoathetosi... |
ORPHA:445038 |
Hyperuricemia, Hprt-Related |
|
Podagra, Hyperuricemia |
OMIM:300323 |
Biliary Atresia, Extrahepatic |
|
Atretic gallbladder, Bile duct proliferation, Unconjugated hyperbilirubinemia, Hyperbilirubinemia... |
OMIM:210500 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Abnormal blood ion concentration, Arthr... |
ORPHA:810 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Short stature, Small for gestational age, Hypoglycemia, Postnatal growth retardation, Hyperhidros... |
ORPHA:231137 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Premature ovarian insufficiency, Osteosclerosis of the base of the ... |
OMIM:609993 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abse... |
OMIM:617600 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar cyst |
OMIM:614678 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Proportionate short stature, Increased circulat... |
ORPHA:71212 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating ferritin concen... |
ORPHA:540 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Severe short stature, Cachexia, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dysto... |
ORPHA:2388 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Amish Lethal Microcephaly |
|
Irritability, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Hepatomegaly |
ORPHA:99742 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Growth d... |
ORPHA:3337 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Seizure, Pontocerebell... |
OMIM:608799 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint mobility, ... |
ORPHA:1328 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, Pseudobulbar paralysis, Difficulty walking... |
OMIM:213700 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia, Diabetes insipidus, Short stature |
OMIM:304800 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Hartsfield Syndrome |
|
Hypospadias, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Growth delay, Micropenis,... |
OMIM:615465 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Short stature, Camptodactyly of finger, Cachexia, Obesity, Hyperhidrosis, Jo... |
ORPHA:85293 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia, Short stature |
OMIM:125800 |
Nestor-Guillermo Progeria Syndrome |
|
Short stature, Decreased serum leptin, Limited elbow movement, Joint stiffness, Flexion contractu... |
OMIM:614008 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Short stature, El... |
ORPHA:800 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Abnormal abdomen morphology, Dystonia |
OMIM:252650 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Cerebral atrophy, Choreoathetosis, Statu... |
OMIM:612164 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Seizure, Neurodegeneration, Gliosis, Status epilepticus, Neuronal loss in cen... |
OMIM:616239 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Le... |
OMIM:616271 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Gliosis, Hepatomegaly, Micronodular cirrhosis, Athetosi... |
ORPHA:404454 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Small for gestational age, Short stature, Decreased circulating antibody level, Incr... |
OMIM:222470 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia |
OMIM:613612 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc... |
OMIM:609981 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Opisthotonus, Seizure, Status epil... |
OMIM:619272 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Cryptorchidism, Chorea, Seizure, Focal impaired awareness seizure... |
OMIM:613970 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli... |
ORPHA:276608 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hypoglycemia |
OMIM:246900 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Failure to thrive, Hypercalcemia |
OMIM:239199 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Ataxia, Small for gestational age, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:617799 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Elevated hepatic transaminase, Dystonia, Ataxia, Small for gestational age, N... |
OMIM:615471 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Macrocytic anemia, Ataxia, Corpus callosum atrophy, Atrophy/Degeneration affe... |
ORPHA:98673 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Growth delay, Glyco... |
ORPHA:411629 |
Osteosarcoma |
|
Pathologic fracture, Osteolysis, Weight loss |
ORPHA:668 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Glycosuria, Hypophosphatemia |
OMIM:618913 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Hypocalcemia, Intrauterine growth... |
OMIM:300712 |
Orthostatic Hypotension 1 |
|
Joint hypermobility, Reduced circulating prolactin concentration, Increased blood urea nitrogen, ... |
OMIM:223360 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Short stature, Asplenia,... |
OMIM:185070 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis |
ORPHA:570422 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia... |
ORPHA:572798 |
Birk-Landau-Perez Syndrome |
|
Failure to thrive in infancy, Hyperkalemia, Growth delay, Increased circulating creatine kinase M... |
OMIM:617595 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... |
OMIM:219080 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Growth delay, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Sma... |
ORPHA:221008 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Glycosuria, Arthrogryposis multipl... |
OMIM:613404 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Dystonia,... |
OMIM:615356 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) ... |
OMIM:619854 |
Infant Botulism |
|
Hyponatremia, Xerostomia |
ORPHA:178478 |
Rothmund-Thomson Syndrome Type 2 |
|
Myelodysplasia, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of th... |
ORPHA:221016 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Short stature, Cachexia, Joint hyperflexibility |
ORPHA:52503 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... |
ORPHA:464321 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Episodic hyperhidrosis, Weight loss, Paraganglioma |
ORPHA:94080 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
ORPHA:79137 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Cerebellar atrophy, Shyness, Overweight, Inability to walk, Seizure, Cerebral cortical atrophy |
OMIM:613744 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Short stature, Growth delay, Hypokalemia, Failure to thrive, Decreased... |
OMIM:218030 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Diamond-Blackfan Anemia 21 |
|
Osteosarcoma |
OMIM:620072 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fa... |
OMIM:229600 |
Baller-Gerold Syndrome |
|
Lymphoma, Osteosarcoma |
ORPHA:1225 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Unsteady gait, Astrocytosis, Seizure, ... |
ORPHA:90324 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neonatal se... |
ORPHA:140927 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Intrauterine growth retardation, Elevated circulating creatine kinase concentration... |
OMIM:610505 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Ataxia, Tremor, Cryptorchidism, Eyelid myoclonus, Seizure, Pontocerebellar atrophy, Cerebellar hy... |
OMIM:618060 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intraut... |
ORPHA:217346 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Osteoporosis, Thyroiditis, Weight loss, Polyclonal el... |
ORPHA:171 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Medullary cystic kidney disease 2 |
|
Hyperuricemia, Gout |
OMIM:603860 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ab... |
ORPHA:1359 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic... |
OMIM:300912 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia |
OMIM:617950 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Generalized-onset seizure, Akinesia, Choreoathetosis, Truncal ataxia, Failure... |
OMIM:618249 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Intention tremor |
OMIM:612674 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Akinesia, Focal motor seizure, B... |
OMIM:619911 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait disturbance |
OMIM:612020 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism |
OMIM:300055 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Cryptorchidism, Wide anter... |
OMIM:614866 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Choreoathetosis, Myoclonus |
ORPHA:726 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Hypoglycemia, Postnatal grow... |
ORPHA:397590 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Dilated fourth ventricle, Impaired pain sensation, Chorea, Impaired... |
OMIM:164400 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Neoplasm of the lung, Arth... |
ORPHA:2796 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Seizure, Hypoparathyroidism, Cerebellar atrophy |
ORPHA:496756 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... |
OMIM:300558 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Short stature, Recurrent fractures, Cryptorchidism, Osteoporosis, Abnormality of the... |
ORPHA:3063 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Hypospadias, Short stature, Septate vagina, Precocious puberty, Cry... |
OMIM:270400 |
Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Cerebellar vermis atrophy, Dystonia |
ORPHA:97 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Sple... |
ORPHA:53035 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, H... |
ORPHA:2169 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Weight ... |
ORPHA:35687 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Short stature, Osteolysis, Elevated circulating uroporphyrin concentration, Cholelith... |
OMIM:263700 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysphagia, Truncal ataxia |
OMIM:614153 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Seizure, Cerebral atrophy, Dystonia |
OMIM:619286 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hippocampal atrophy, Focal impaire... |
OMIM:614418 |
Leprechaunism |
|
Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, Labial hypertro... |
ORPHA:508 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Seizure, Bilateral tonic-clonic seizure, Cerebral atrophy |
ORPHA:209370 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Inability to walk, Dysmetria, Seizure, Cerebellar hypoplasia, Dystonia, Cerebellar vermis... |
OMIM:618087 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with ... |
ORPHA:363558 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai... |
OMIM:254900 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Myoclonic seizure, Cere... |
OMIM:620327 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu... |
OMIM:256810 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired propr... |
OMIM:606002 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchitis, Elev... |
ORPHA:99826 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ... |
ORPHA:268940 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Short stature, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatem... |
OMIM:619743 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Failure to thrive, Cerebellar cortical atrophy |
OMIM:248800 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Difficulty walking, D... |
ORPHA:513436 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Generalize... |
OMIM:615398 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:608836 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Short stature, Impaired T cell function, Crypto... |
ORPHA:567 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Focal myoclonic s... |
ORPHA:481152 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Somatic sensory dysfunction, Resting... |
ORPHA:909 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, El... |
ORPHA:355 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decrease... |
ORPHA:231580 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul... |
ORPHA:90363 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Nephrogenic Diabetes Insipidus |
|
Short stature, Nephrogenic diabetes insipidus, Growth delay, Hypernatremia, Failure to thrive |
ORPHA:223 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperhidrosis, Hyperphosphatemia, De... |
ORPHA:340 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... |
OMIM:615802 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Depression, Pseudobulbar paralys... |
OMIM:169500 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97282 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Mevalonic Aciduria |
|
Cerebellar atrophy, Normocytic hypoplastic anemia, Elevated hepatic transaminase, Agenesis of cer... |
OMIM:610377 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Hyperbilirubinemia, Hyperglycemia, Intrauterine growth ret... |
OMIM:615710 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Short stature, Cachexia, Elbow flexion contracture, Knee flexion contracture, Se... |
ORPHA:371364 |
Tenosynovial Giant Cell Tumor |
|
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness |
ORPHA:66627 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Neonatal death, Arthrogryposis multiplex c... |
OMIM:618186 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Bile duct pr... |
OMIM:619662 |
Exercise-Induced Malignant Hyperthermia |
|
Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, ... |
ORPHA:466650 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... |
ORPHA:77259 |
Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration... |
ORPHA:160 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c... |
OMIM:620282 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Cerebellar atrophy, Torticollis, Ataxia, Infantile spasms |
OMIM:618547 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Short stature, Small for gestational age, Myelod... |
ORPHA:2909 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia |
ORPHA:67048 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm |
OMIM:240500 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Cerebral atrophy, Seiz... |
OMIM:618922 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Dysphagia, Cerebellar cyst |
OMIM:606612 |
Mucopolysaccharidosis-Plus Syndrome |
|
Increased circulating IgM level, Flexion contracture, Hypoalbuminemia, Bone marrow hypocellularity |
OMIM:617303 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Supernumerary nipple, Impaired social interactions, Aggressive be... |
OMIM:616083 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:2584 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Micropenis, Hypothyroidism, Joint laxity, Hypospadia... |
OMIM:243800 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... |
ORPHA:3226 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s... |
ORPHA:369929 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Dy... |
OMIM:277460 |
Cog5-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Diffuse cerebral atrophy, Elevated hepatic transaminase, Crypto... |
ORPHA:263487 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Glycogen Storage Disease Xii |
|
Short stature, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Delayed pu... |
OMIM:611881 |
Lathosterolosis |
|
Bilobate gallbladder, Osteoporosis, Growth delay, Abnormal circulating cholesterol concentration,... |
OMIM:607330 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Exaggerated startle ... |
OMIM:617281 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Premature thelarche, Elevated c... |
OMIM:616878 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Saccharopinuria |
|
Short stature, Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated... |
ORPHA:3124 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Pan... |
OMIM:246200 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Cerebellar atrophy |
OMIM:618506 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Scholte Syndrome |
|
Cerebellar atrophy, Decreased testicular size |
OMIM:300977 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellulari... |
OMIM:614742 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Septic arthritis, Pancreatitis |
ORPHA:544482 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Cerebral atrophy, Limb dystonia |
OMIM:620269 |
Immunodeficiency 31C |
|
Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune ... |
OMIM:614162 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Short stature, Hypophosphatemia |
OMIM:308990 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Ob... |
OMIM:219090 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Cryptorchidism, Gait ataxia, Seizure, Spastic gait |
ORPHA:496790 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:607115 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, ... |
OMIM:619381 |
Tetrasomy 12P |
|
Joint hyperflexibility, Short stature, Cachexia |
ORPHA:884 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia, Seizure, Loss of ambulation |
OMIM:620089 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Bile duct proliferation, Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Hyperprolinemia, Focal T2 hyperintense thalamic lesion, Hyperalaninemia... |
OMIM:619046 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Perineal hypospadias, Growth delay, Elevated circu... |
ORPHA:66634 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hepat... |
ORPHA:466934 |
Peho Syndrome |
|
Cerebellar atrophy, Seizure, Neuronal loss in central nervous system, Myoclonus |
OMIM:260565 |
Galloway-Mowat Syndrome 3 |
|
Short stature, Hypoalbuminemia, Camptodactyly, Intrauterine growth retardation, Failure to thrive |
OMIM:617729 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Seizure, Abnormality of the liver, Failure to ... |
OMIM:610131 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... |
ORPHA:369837 |
Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... |
ORPHA:64280 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Cryptorchidism, Obesity, Polycystic ovaries, Decreased testicular size |
ORPHA:3085 |
Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism, Neonatal hyperbilirubinemia, Short stature |
ORPHA:293939 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Short stature, Cryptorchidism, Growth delay, Recurrent hypoglycemia, D... |
OMIM:616817 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy |
ORPHA:98773 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... |
ORPHA:681 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse... |
ORPHA:478029 |
Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Cerebral atrophy, Seizure, Focal clonic seizure,... |
OMIM:617933 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:174000 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Granuloma, Hepatic fibrosis, Hemopha... |
OMIM:619858 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Elevated hemoglobin A1c, Cerebral atrophy, Sensory ataxia, Gait ataxia, Atrop... |
OMIM:616192 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Arthrog... |
OMIM:208085 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Short stature, Interphalangeal joint contracture of finger, Ankle fl... |
OMIM:259600 |
Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Ataxia, Cryptorchidism, Gait ataxia, Seizure, Decreased body weight, Failure ... |
OMIM:617164 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97283 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Myoclonic seizure, Dysphagia, Cerebral ... |
OMIM:619576 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Chorea, Cerebral atrophy, Seizure, Bruxi... |
OMIM:617804 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysphagia, Febrile seizure ... |
ORPHA:496641 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Decreased circulating cortisol level, Conjugated hyperbilirubinemia,... |
OMIM:620305 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Short stature, Recurrent fractures, Camptodactyly of f... |
ORPHA:3206 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Hypokalemia, Failure to thrive, Rickets |
OMIM:602722 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Dystonia, Ataxia, Hypoplasia of the pons, Head titubation, Dysmetria, Seizure... |
OMIM:619708 |
Rothmund-Thomson Syndrome, Type 2 |
|
Basal cell carcinoma, Osteosarcoma, Squamous cell carcinoma |
OMIM:268400 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Seizure, Decreased body weight |
OMIM:614833 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Dysesthesia, Dysmetria, Gait ataxia, Depression, Bradykinesia, Gait disturbance, Compulsi... |
ORPHA:93256 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Xanthinuria, Type Ii |
|
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia |
OMIM:603592 |
Ppoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... |
ORPHA:97278 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Diabetes mellitus, Small for gestational age, Hypoglycemia, Proportionate short sta... |
ORPHA:391408 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163721 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Intrauterine growth r... |
OMIM:266200 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... |
OMIM:270550 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Fail... |
ORPHA:2089 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Hypospadias, Short stature, Craniosynostosis, Progressive... |
ORPHA:93932 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Episodic Ataxia, Type 2 |
|
Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy |
OMIM:108500 |
Satoyoshi Syndrome |
|
Short stature, Osteolytic defects of the phalanges of the hand, Hypoplasia of the uterus, Mildly ... |
OMIM:600705 |
Gracile Syndrome |
|
Cholestasis |
OMIM:603358 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Decreased circulating antibody level, Growth delay, Hypoalbuminemia, Failure to... |
ORPHA:79396 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile... |
ORPHA:171680 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, Adrenocorti... |
ORPHA:231632 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:248500 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Pancreatitis, Increased serum bile acid concentration |
OMIM:243300 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infan... |
ORPHA:480864 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Hypoglycemia, Large for gestational age, Cryptorchidism, Wide anterior fontanel, Decr... |
OMIM:616638 |
Gm1-Gangliosidosis, Type Ii |
|
Failure to thrive, Thin bony cortex, Joint stiffness |
OMIM:230600 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Recurrent hypoglycemia, Impai... |
OMIM:212140 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... |
ORPHA:300298 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hypokalemia, Hyperthyroidism, Goiter |
OMIM:188580 |
Hereditary Spherocytosis |
|
Growth delay, Cholelithiasis, Gout, Hyperbilirubinemia |
ORPHA:822 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment |
OMIM:615217 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia |
OMIM:266150 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega... |
ORPHA:309155 |
Dermatoosteolysis, Kirghizian Type |
|
Osteoarthritis, Tarsal synostosis, Osteolysis |
ORPHA:1657 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Hyperbilirubinemia |
ORPHA:79302 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cerebellar atrophy, Aggressive behavior, Cryptorchidism, Cerebral atrophy, Seizure, Attention def... |
OMIM:618659 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Growth delay, Steatorrhea, Failure to thrive, Hypocholesterolemia |
ORPHA:71 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In... |
ORPHA:79474 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... |
OMIM:619355 |
Episodic Ataxia Type 1 |
|
Choreoathetosis, Cerebellar atrophy, Tip-toe gait |
ORPHA:37612 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Bilateral tonic-clonic seizure, Chore... |
ORPHA:369840 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Atrophy of the spinal cord, Gait ataxia |
ORPHA:139480 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
D-Glyceric Aciduria |
|
Hypoglycemia, Nonketotic hyperglycinemia, Growth delay, Micropenis, Failure to thrive |
OMIM:220120 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Neonatal death, Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Short stature, Hypoalbuminemia, Freckled genitalia |
ORPHA:79076 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Abnormal r... |
OMIM:619877 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Osteoporosis, Hypoglycemia |
OMIM:617190 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Increased circulating guanosine concentration, Impaired T cell function, Abnormalit... |
OMIM:613179 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Bilateral tonic-clonic seizure |
OMIM:611556 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Thrombocytopenia, Inability to walk, Generalize... |
ORPHA:457351 |
Satoyoshi Syndrome |
|
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
ORPHA:3130 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia, ... |
ORPHA:543470 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Failure to thrive in infancy, Infantile spasms... |
ORPHA:356961 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia, Int... |
ORPHA:247234 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Congenital Disorder Of Glycosylation, Type Id |
|
Cerebellar atrophy, Seizure, Failure to thrive, Cerebral atrophy |
OMIM:601110 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... |
OMIM:617101 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Depression, Bradykinesia, Gliosis, Myoclonus, Gait disturbance, Dysphag... |
OMIM:168601 |
Focal Myositis |
|
Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Leigh Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Infantile spasms, Chorea, Hepatic failure, Neutropenia, Dys... |
ORPHA:506 |
Grfoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... |
ORPHA:97261 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Short stature, Neonatal epiphyseal stippling, Flexion contracture,... |
ORPHA:35173 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Short stature, Hypoalbuminemia, Camptodactyly, Intrauterine growth ret... |
OMIM:251300 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Elevated hepatic transaminase, Resting tremor, Ataxia, Tremor, Depression, Ga... |
ORPHA:254892 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Exaggerated startle response, Ataxia |
OMIM:618598 |
Dubowitz Syndrome |
|
Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Hypocholesterolemia, In... |
OMIM:223370 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Short stature, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Gillespie Syndrome |
|
Cerebellar atrophy, Ataxia, Cerebellar hypoplasia, Postural tremor |
OMIM:206700 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Familial Or Sporadic Hemiplegic Migraine |
|
Cerebellar atrophy, Impaired temperature sensation, Dissociated sensory loss, Focal motor seizure... |
ORPHA:569 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, ... |
OMIM:251000 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Cholelithiasis |
OMIM:605479 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Flexion contracture, Xerostomia, Osteolysis, Arthritis |
ORPHA:220393 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar hypoplasia, Difficulty ... |
ORPHA:280210 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... |
ORPHA:1652 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Short stature, Recurrent fractures, Increased circulating ferritin c... |
OMIM:222700 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Tenorio Syndrome |
|
Osteopenia, Hypoglycemia, Hypoinsulinemia, Joint laxity |
OMIM:616260 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Digeorge Syndrome |
|
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Impaired T ... |
OMIM:188400 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Hypoglycemia, Cachexia, Joint hyperflexibility, Th... |
ORPHA:109 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Seizure, Brain atrophy, Dystonia |
OMIM:616875 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Thrombocytopenia, Hyperammonemia, Growth delay, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Graft Versus Host Disease |
|
Dupuytren contracture, Limited elbow movement, Limited shoulder movement, Arthritis, Hyperbilirub... |
ORPHA:39812 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Cerebral atrophy, Depression, Head tremor, Atrophy/De... |
ORPHA:314404 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Myoclonus, Cerebral atrophy |
OMIM:619609 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Seizure, Bruxism |
OMIM:615716 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Cirrhosis, In... |
ORPHA:101028 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Decreased serum testosterone concentration, Small scrotum, Small for ge... |
ORPHA:97360 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia |
OMIM:214950 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:618856 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Abnormal testis morphology, Short stature, Weight loss |
ORPHA:317 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Generalized dystonia, Ataxia, Infantile spasms, Aggressive behavior, Chorea, Cerebr... |
OMIM:618321 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Intraut... |
OMIM:619321 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Dysmetria, Gait disturbance, Arm dyston... |
ORPHA:88644 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Biotinidase Deficiency |
|
Hepatomegaly, Diffuse cerebral atrophy, Ataxia, Splenomegaly, Seizure, Lethargy, Diffuse cerebell... |
OMIM:253260 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Seizure |
OMIM:616212 |
Mulibrey Nanism |
|
Short stature, Growth delay, Intrauterine growth retardation, Nephroblastoma, Thickened cortex of... |
OMIM:253250 |
Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Decreased testicular size, Inability to walk, Cryptorchidism, Seizure, Status... |
OMIM:615663 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seiz... |
ORPHA:91131 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro... |
ORPHA:276621 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Hutchinson-Gilford Progeria Syndrome |
|
Growth delay, Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe... |
OMIM:616973 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Hepatomegaly, Rhizomelia, Sagittal craniosynostosis, Malformation of the hepatic du... |
OMIM:218330 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Pain insensitivity, Aggressive behavior, Tonic seizure, Cryptorchidi... |
OMIM:300534 |
Autoimmune Hepatitis |
|
Thyroiditis, Arthritis, Increased circulating IgG level, Increased circulating antibody level, In... |
ORPHA:2137 |
Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Vaginal neoplasm, Osteolysis, Growth delay, Ambiguous genitalia, Intrauterine grow... |
ORPHA:1052 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Hyperbilirubinemia |
OMIM:235700 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism... |
OMIM:620224 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
Carnitine Palmitoyltransferase I Deficiency |
|
Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyp... |
OMIM:255120 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Unsteady gait, Depression, Bradykinesia, Blepharospasm, Gliosis, F... |
ORPHA:683 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia |
OMIM:600649 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
Acute Intermittent Porphyria |
|
Hyponatremia, Hyperhidrosis |
ORPHA:79276 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... |
ORPHA:247768 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulatin... |
ORPHA:370348 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Developmental And Epileptic Encephalopathy 90 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Cerebral atrophy, Focal impaired awareness s... |
OMIM:301058 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia, Joint stiffness |
ORPHA:702 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Hypoplastic labia majora, Hypocholesterolemia, Failure to thrive, Clitoral hypertr... |
OMIM:244450 |
Silver-Russell Syndrome 1 |
|
Small for gestational age, Hypospadias, Decreased response to growth hormone stimulation test, Fa... |
OMIM:180860 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Polycystic ovaries, Cerebral atrophy, Elevated hepatic transaminase |
OMIM:268020 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Bilateral tonic-clonic seizure, Focal-onset seizure, Cryptorchidism, Chiari type... |
OMIM:618316 |
Apparent Mineralocorticoid Excess |
|
Short stature, Hypokalemia, Abnormality of circulating cortisol level, Intrauterine growth retard... |
ORPHA:320 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Short stature |
OMIM:601847 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Rhizomelia, Short stature, Generalized joint laxity, Decreased calvaria... |
OMIM:613848 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97280 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
ORPHA:90003 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Failure to thrive, Hypospadias, Short stature, Recurrent fractures, Osteoporosis, Ost... |
ORPHA:955 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Weight loss |
ORPHA:67 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of puberta... |
OMIM:614837 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Cerebral atrophy, Status epilepticus, Cerebellar vermis atrophy |
OMIM:615760 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated ci... |
ORPHA:26791 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Axonal degeneration, Seizure, Dystonia, Global brain atrophy |
OMIM:616811 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Bone marr... |
ORPHA:86839 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Rhizomelia, Weight loss, Joint hyperflexibility, Severe short-limb dwarfism, Failur... |
ORPHA:1842 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Diffuse cerebral atrophy, Portal hypertension, Aggressive behavior... |
ORPHA:84081 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Depression, Atte... |
ORPHA:98784 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cerebellar atrophy, Splenomegaly, Hepatomegaly |
OMIM:618541 |
Metachromatic Leukodystrophy |
|
Dystonia, Ataxia, Tremor, Abnormal gallbladder morphology, Hemobilia, Seizure, Tip-toe gait, Gait... |
ORPHA:512 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Pancreatic fibrosis, Dysmetria, Seizure, Hepatic fibros... |
OMIM:616263 |
Hereditary Xanthinuria |
|
Rheumatoid arthritis, Hypouricemia, Gout, Hyperxanthinemia |
ORPHA:3467 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy, Weight loss |
ORPHA:50251 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Myoclonus,... |
OMIM:618426 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Osteomyelitis, Eosinophilia, Abnormality of the endocrine system, Oste... |
ORPHA:228123 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Ankylosis, Palmoplantar hyperhidrosis, Osteolysis |
ORPHA:659 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatitis, Anemia |
ORPHA:27 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Myelodysplasia, Adenocarcinoma of the colon, Malignant genitourinary trac... |
ORPHA:124 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Diffuse cere... |
ORPHA:247815 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati... |
OMIM:208540 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Growth delay, Rectocele, Failure to thrive, Hypoproteinemia |
ORPHA:2929 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Abnormal circulating porphyrin concentration, Osteoporosis, Osteolysis, Unconjugated ... |
ORPHA:79277 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:619484 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Restlessness, Hyperactivity, Hepatomegaly, Aggressive behavior, Splenomegaly,... |
OMIM:252940 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Failure t... |
OMIM:619151 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Congenital... |
ORPHA:96181 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... |
OMIM:618157 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
Microsporidiosis |
|
Brain abscess, Osteomyelitis, Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Pe... |
ORPHA:2552 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, S... |
ORPHA:3240 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
Pearson Marrow-Pancreas Syndrome |
|
Pancreatic fibrosis, Small for gestational age, Hyperbilirubinemia, Steatorrhea, Type I diabetes ... |
OMIM:557000 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Growth delay, Hypokalemia, Short stature, Hyperamylasemia |
OMIM:604278 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Megaloblastic anemia, Generalized non-motor (abs... |
ORPHA:79351 |
Spinocerebellar Ataxia Type 7 |
|
Cerebellar atrophy, Restless legs, Somatic sensory dysfunction, Ataxia, Dysmetria, Cerebral atrop... |
ORPHA:94147 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Hypercalcemia, Hyperhidrosis |
OMIM:171420 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Neonatal hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamm... |
OMIM:212138 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Cryptorchidism, Head-banging, Seizure, Attention deficit hyperactivity disord... |
OMIM:619103 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hypoglycemia, Hyperammonemia, Growth delay, Hyperglycemia, Failure to thrive |
OMIM:615453 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Opisthotonus, Irritab... |
OMIM:252160 |
Slc39A8-Cdg |
|
Cerebellar atrophy, Failure to thrive in infancy, Inability to walk, Seizure, Abnormality of the ... |
ORPHA:468699 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemi... |
OMIM:276700 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Rickets, Limitation... |
ORPHA:89936 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... |
ORPHA:284 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Hypoglycemia |
OMIM:201910 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia,... |
OMIM:617591 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Supernumerary nipple, Camptodactyly of finger, Osteolysis, Hyperhidr... |
ORPHA:464 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Brain atrophy, Myoclonic seizure |
OMIM:620070 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated ci... |
ORPHA:79318 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Pain insensitivity, Small for gestational age, Bilateral tonic-clonic seizure, Impaired tactile s... |
ORPHA:453510 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Joint hypermo... |
OMIM:619418 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
Brain Small Vessel Disease 2 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro... |
ORPHA:29072 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Flexion contracture, Increased circulating IgM level, Hypoalbuminemia, Bone marr... |
ORPHA:505248 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Salt craving, Ataxia, Seizure, Dysdiadochokinesis, Polydipsia, Intention tremor |
OMIM:612780 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Pelger-Huet Anomaly |
|
Bilateral tonic-clonic seizure, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei... |
OMIM:169400 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias |
OMIM:618874 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilater... |
OMIM:614231 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Bilateral cryptorchidism, Axonal degeneration, Scissor ga... |
OMIM:278800 |
Trisomy 18 |
|
Short stature, Camptodactyly of finger, Cachexia, Cryptorchidism, Growth delay, Intrauterine grow... |
ORPHA:3380 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Atrophy of the spinal cord, Focal-onset seizure, Generali... |
ORPHA:395 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Cerebellar atrophy, Ataxia, Depression |
OMIM:604121 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608779 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... |
OMIM:300972 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Generalized dystonia, Corpus callosum atrophy, Dysmetria, Seizure, Dysdiadoch... |
ORPHA:171629 |
Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia, Insulin resistance, Obesity, Growth delay |
ORPHA:96168 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... |
ORPHA:2457 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Fractures of the long bones, Metrorrhagia, Osteolysis |
ORPHA:464329 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Cerebral atrophy |
OMIM:272200 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Bilateral cryptorchidism, Bone cyst, Flexion contracture, Osteoly... |
ORPHA:3042 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Impaired temp... |
OMIM:268800 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... |
OMIM:615962 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid... |
ORPHA:3157 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Seizure, Epileptic spasm, Dysphagia |
ORPHA:485421 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ... |
OMIM:619777 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, D... |
OMIM:210710 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Tonic seizure, Irritability, Seizure, Dysphagia... |
OMIM:618367 |
Raine Syndrome |
|
Increased bone mineral density, Short stature, Subperiosteal bone formation, Hypophosphatemia, Ne... |
OMIM:259775 |
Oculodentodigital Dysplasia |
|
Hypoglycemia, Camptodactyly of finger, Cranial hyperostosis, Hyperostosis, Abnormal cortical bone... |
ORPHA:2710 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Failure to thrive, Small for gestational age |
OMIM:618252 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Aggressive... |
ORPHA:2131 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevate... |
OMIM:248600 |
Diamond-Blackfan Anemia 1 |
|
Basal cell carcinoma, Myelodysplasia, Osteosarcoma |
OMIM:105650 |
Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Central hypothyroidism, Weight loss, Gro... |
ORPHA:95427 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Joint laxity, Hyperextensibility of the finger joints, Hip contracture, Decreased response to gro... |
OMIM:619503 |
Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Seizur... |
ORPHA:46059 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Abnormal cerebellum morphology,... |
ORPHA:77293 |
Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Severe short stature, Cranial hyperostosis, Limitation of joint m... |
ORPHA:2658 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight lo... |
ORPHA:729 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hy... |
ORPHA:653 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Seckel Syndrome |
|
Short stature, Cachexia, Craniosynostosis, Joint hyperflexibility, Intrauterine growth retardation |
ORPHA:808 |
Mirizzi Syndrome |
|
Pancreatitis, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal ductus choledo... |
ORPHA:521219 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Thrombocytopenia, Hyperammonemia, Weight loss |
ORPHA:79242 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... |
OMIM:614207 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, T... |
OMIM:620365 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating creatine kinase... |
OMIM:614921 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Short stature, Hypoglycemia, Delayed epiphyseal ossification, Flexion contracture, Gr... |
OMIM:616007 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Dysphagia |
ORPHA:352447 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Hypoplasia of the pons, Obesity, Self-inj... |
ORPHA:468678 |
Superficial Siderosis |
|
Cerebellar atrophy, Ataxia, Impaired pain sensation, Impaired temperature sensation, Atrophy of t... |
ORPHA:247245 |
Mixed Connective Tissue Disease |
|
Arthritis, Xerostomia, Osteolysis, Joint stiffness |
ORPHA:809 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cardiomegaly, Inab... |
OMIM:620066 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Cardiomegaly, Hepatocellular necrosis, Periportal f... |
OMIM:201475 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... |
OMIM:615538 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Cardiomegaly, Cerebral atrophy, Seizure, Focal impaired awareness seizure, Le... |
OMIM:620306 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia, Brain atrophy |
OMIM:619260 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Abnormal circulating porphyrin concentration, Osteoporosis, Osteolysis |
ORPHA:95159 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Thin b... |
OMIM:309583 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Neurodegeneration, Dysphagia |
OMIM:615919 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Splenomegaly, Jaundice,... |
OMIM:615512 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenome... |
ORPHA:2072 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis |
OMIM:145980 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Short stature, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increase... |
OMIM:619534 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Dystonia, Bilateral tonic-clonic seizure, Splenomegaly, Cerebral atrophy, Neutropen... |
OMIM:617050 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Arthriti... |
OMIM:304790 |
Spondyloocular Syndrome |
|
Osteopenia, Short stature, Thin bony cortex, Decreased body weight |
OMIM:605822 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus |
OMIM:607876 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marro... |
OMIM:617243 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... |
ORPHA:85450 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Acth Deficiency, Isolated |
|
Seizure, Jaundice, Adrenocorticotropic hormone deficiency, Cholestasis |
OMIM:201400 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Growth delay, Hyperkalemia, Short stature |
OMIM:608885 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Biliary hyperplasia, Pancreatic cysts, Growth delay, Increased serum bile acid conc... |
ORPHA:731 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea... |
ORPHA:99901 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly,... |
OMIM:615846 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic fibrosis, Short stature, Conjugated hyperbilirubinemia, Pancreatic cysts, Early ossifi... |
OMIM:208500 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Neonatal death, Increased circulating very long-chain fatty acid c... |
OMIM:614887 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... |
OMIM:260400 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Impulsivity, Akinesia, Depression, Weight loss, Bradykinesia, Gliosis, ... |
ORPHA:411602 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss |
ORPHA:26790 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Impaired pain sensation, Inability to walk, Impaired distal vibration sensati... |
ORPHA:99949 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:618905 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... |
OMIM:615577 |
Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:3162 |
Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Biliary hyperplasia, Conjugated hyperbilirubinemia, Hyperlipidemia, Ab... |
ORPHA:567983 |
Weill-Marchesani Syndrome 1 |
|
Proportionate short stature, Short stature, Thin bony cortex, Joint stiffness |
OMIM:277600 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... |
OMIM:173100 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Cerebellar vermis hypoplasia, Small for gestational a... |
OMIM:620024 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy |
OMIM:615084 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Joint stiffness, Flexion contracture, Knee osteoarthritis, Oli... |
ORPHA:85408 |
Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex, Large for gestational age |
OMIM:612731 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait, Cholecystitis, Dystonia, Emotional l... |
ORPHA:309256 |
Trisomy 20P |
|
Macroorchidism, Cryptorchidism, Hypospadias |
ORPHA:261318 |
Fryns-Smeets-Thiry Syndrome |
|
Joint hyperflexibility, Short stature, Cachexia |
ORPHA:2058 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Weight loss, Lymphadenopathy, ... |
ORPHA:2905 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Wide anterior fontanel, Glycosuria, Neonatal death, Elevated circulating glutaric a... |
OMIM:231680 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Decreased fertility, Secondary amen... |
ORPHA:902 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Progressiv... |
ORPHA:95433 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Brain atrophy, Opisthotonus |
OMIM:271900 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Hardikar Syndrome |
|
Decreased serum insulin-like growth factor 1, Short stature, Osteoporosis, Growth delay, Bile duc... |
OMIM:301068 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure, Splenomegaly, Hepatic f... |
OMIM:252010 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Cerebellar atrophy, Seizure, Cerebral atrophy |
OMIM:616266 |
Ogden Syndrome |
|
Short stature, Maternal diabetes, Postnatal growth retardation, Cryptorchidism, Wide anterior fon... |
OMIM:300855 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia |
ORPHA:1187 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Bilateral tonic-clonic seizure |
OMIM:540000 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... |
ORPHA:440437 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures, Growth delay, ... |
ORPHA:77261 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of the pons, Cryptorchid... |
OMIM:619512 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp... |
OMIM:259730 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglycemia, Decreased... |
ORPHA:159 |
Degcags Syndrome |
|
Osteopenia, Hypospadias, Small for gestational age, Craniosynostosis, Tracheomalacia, Cryptorchid... |
OMIM:619488 |
Copper Deficiency, Familial Benign |
|
Failure to thrive, Decreased circulating copper concentration, Anemia |
OMIM:121270 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Melas |
|
Hypoparathyroidism, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Seiz... |
ORPHA:550 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Nephronophthisis 16 |
|
Enlarged kidney, Periportal fibrosis, Cholestasis |
OMIM:615382 |
Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Chorea, Depression, Seizure, Progressive gait ataxia, Cholecystitis, Difficulty walking... |
ORPHA:309271 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Microp... |
OMIM:615849 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201710 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Atrophy of... |
ORPHA:466768 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia |
ORPHA:760 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Seizure, Cholestatic liver disease, Failure to thrive, Hepatomegaly |
ORPHA:5 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia |
ORPHA:300605 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Subcortical cerebral ... |
ORPHA:440713 |
Galloway-Mowat Syndrome 9 |
|
Choreoathetosis, Cerebellar atrophy, Cerebral cortical atrophy |
OMIM:619603 |
Essential Thrombocythemia |
|
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Fumarase Deficiency |
|
Failure to thrive, Mitochondrial swelling, Hyperbilirubinemia |
OMIM:606812 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:221750 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Seizure, Agitation, Disinhibition, Myoclonus, Abnormal social behavior, Cerebral cortical... |
ORPHA:1020 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Anterior pituitary hypoplasia, Tonic seizure, Pituitary hypothyro... |
OMIM:619983 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... |
OMIM:251110 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Ambiguous ge... |
OMIM:610644 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... |
ORPHA:495875 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Oral-pharyngeal dysphagia, Tr... |
OMIM:300966 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Focal impaired awareness seizure |
OMIM:616683 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Failure to thrive |
OMIM:210210 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Abnormal ... |
ORPHA:399 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... |
ORPHA:793 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
Rh Deficiency Syndrome |
|
Intrauterine growth retardation, Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
Cryptococcosis |
|
Osteomyelitis, Prostatitis, Osteolysis |
ORPHA:1546 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, Hypokalemia... |
ORPHA:231625 |
Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Hypoglycemia |
OMIM:248360 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Joint hypermobility, Hypere... |
OMIM:617052 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Cryptorchidism, Seizure, Cerebellar hypoplasia, Attention deficit hyperactivity diso... |
ORPHA:96092 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Hepatic... |
ORPHA:255210 |
Aceruloplasminemia |
|
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... |
OMIM:604290 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia |
OMIM:231670 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Dandy-Walker malformation |
OMIM:616602 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... |
ORPHA:96182 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Cranial hyperostosis, Osteolysis, Co... |
ORPHA:309282 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Positive Romberg sign, Cerebellar hypoplas... |
ORPHA:314647 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Parotitis, Hypercalcemia, Portal hypertension, Eosinophilia, Thro... |
ORPHA:797 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Abnormal ductus choledochus morphology, Increased circulating Ig... |
ORPHA:562639 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Seizure, Attention deficit hyper... |
ORPHA:3166 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Head-banging |
OMIM:619356 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Cereb... |
OMIM:619124 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia |
OMIM:617763 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure |
OMIM:600092 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Abnormality of circulating e... |
ORPHA:35706 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Neutropen... |
ORPHA:520 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Gen... |
OMIM:614756 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Rhizomelia, Short stature, Craniosynostosis, Bile duct proliferation, Hyperbilirubi... |
OMIM:613610 |
Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... |
OMIM:620186 |
X-Linked Intellectual Disability, Nascimento Type |
|
Cryptorchidism, Micropenis, Hypospadias, Neonatal hyperbilirubinemia |
ORPHA:163956 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Peho Syndrome |
|
Cerebellar atrophy, Infantile spasms, Seizure, Atrophy/Degeneration affecting the brainstem, Cere... |
ORPHA:2836 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Large for gestational age, Cryptorchidism, Neonatal hypoglycemia, Decreased circulat... |
ORPHA:457485 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Diabetes mellitus, Hypoglycemia, Intrauterine growth retardation, Failu... |
ORPHA:2609 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure |
OMIM:600721 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... |
OMIM:300607 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Hypospadias, Anterior pituitary hypoplasia... |
OMIM:151050 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Seizure, Progressive gait ataxia, Cholecystitis, Dystonia, Emotional lability, Abnormal social be... |
ORPHA:309263 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Obesity, Cholestasis |
OMIM:616629 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... |
ORPHA:1333 |
Pulmonary Alveolar Microlithiasis |
|
Abnormal circulating calcium concentration, Decreased fertility, Weight loss, Gonadal calcificati... |
ORPHA:60025 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Neonatal hypoglycemia, Camptodactyly |
OMIM:301032 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic ... |
ORPHA:405 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Acute leukemia, Thrombocy... |
ORPHA:647 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
Takenouchi-Kosaki Syndrome |
|
Cerebellar atrophy, Ataxia, Increased mean platelet volume, Cryptorchidism, Seizure, Cerebellar h... |
OMIM:616737 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... |
ORPHA:513456 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Osteoarthritis, Cystocele, Osteolysis, Joint hyperfle... |
ORPHA:286 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Abnormal mitochondrial shape, Hypospadias, Hypoglycemia, Flexion contract... |
ORPHA:17 |
Familial Atrial Myxoma |
|
Jaundice, Ascites, Cholestasis, Cardiomegaly |
ORPHA:615 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Growth delay, Hypouricemia |
OMIM:252150 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Small for gestational age, Cryptorchidism, Seizure, Failure to thrive |
OMIM:193700 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Joint laxity, Failure to thrive, Osteomyelitis, Hypospadias, Overweight, Obesity, ... |
OMIM:619475 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Seizure, Focal impaired awareness seizure, Fai... |
ORPHA:488613 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Large for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Seizure... |
OMIM:614080 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Seizure, Hepatic fibrosis, Hepati... |
ORPHA:541423 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... |
ORPHA:435638 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Thrombocytopenia,... |
OMIM:611209 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, Prolonged neonatal jaundice, HbH hemoglobin, Bilateral tonic-clonic sei... |
ORPHA:423479 |
Deeah Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:619004 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Small for gestational age, Bilateral tonic-clonic seizure, Cryptorchidism, Seizure, Cerebellar hy... |
OMIM:257300 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, La... |
ORPHA:116 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Osteogenesis Imperfecta |
|
Osteopenia, Short stature, Rhizomelia, Recurrent fractures, Small for gestational age, Fractures ... |
ORPHA:666 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Seizure, Dystonia, Impaired oropharyngeal swallow response, Failure... |
ORPHA:521426 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Broad-based gait, C... |
OMIM:617330 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Postnatal growth retardation, Short stature, Decreased thalamic vo... |
ORPHA:168577 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
Nephronophthisis 18 |
|
Portal fibrosis, Cholestasis |
OMIM:615862 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Cerebellar hypoplasia, Im... |
ORPHA:457359 |
Opsismodysplasia |
|
Rhizomelia, Disproportionate short-limb short stature, Hypophosphatemia |
OMIM:258480 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Seizure, Cerebellar hypoplasia |
OMIM:618590 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Hemophagocytosis, Weight loss |
ORPHA:86884 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion... |
OMIM:616005 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio... |
ORPHA:488627 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Failure to thrive, Cerebellar atrophy, Cerebral atrophy |
OMIM:616430 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia, Exocrine ... |
ORPHA:309031 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Neonatal hypoglycemia, Congenital foot contractures, Intrauterine growth retardation |
ORPHA:565624 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Br... |
OMIM:620330 |
Pheochromocytoma |
|
Pheochromocytoma, Hypercalcemia, Hyperhidrosis |
OMIM:171300 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Joint stiffness, Elevated circulating C-reactive protein concentration, Wei... |
OMIM:180300 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Abnormal ductus choledochus morphology, Pancreatitis, Hyperbilirub... |
ORPHA:480520 |
Gm1 Gangliosidosis |
|
Short stature, Camptodactyly of finger, Joint stiffness, Splenomegaly, Weight loss, Hepatosplenom... |
ORPHA:354 |
Multiple Osteochondromas |
|
Osteochondroma, Chondrosarcoma, Short stature, Limitation of joint mobility, Arthritis, Rib exost... |
ORPHA:321 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Impulsivity, Shyness, Cerebral atrophy, Seizure, Attention deficit hyperactiv... |
OMIM:301030 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Abnormal liver parenchyma morphology, Weight loss, ... |
ORPHA:1332 |
Eosinophilic Fasciitis |
|
Arthritis, Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypokalemia |
OMIM:611489 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Bilateral ... |
OMIM:613457 |
Yellow Fever |
|
Acute pancreatitis, Elevated circulating creatine kinase concentration, Pancreatic hyperplasia, E... |
ORPHA:99829 |
Leopard Syndrome 1 |
|
Hypospadias, Short stature, Limited elbow movement, Cryptorchidism, Micropenis, Hypoplasia of the... |
OMIM:151100 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Septooptic Dysplasia |
|
Short stature, Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:182230 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Craniosynostosis, Enlarged polycystic ovaries, Neoplasm ... |
ORPHA:744 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Short stature, Precocious puberty, Osteoporosis, Osteolysis, Glomus jugular tumor, El... |
ORPHA:97685 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
Takayasu Arteritis |
|
Arthritis, Anemia, Weight loss |
ORPHA:3287 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Papillon-Lefèvre Syndrome |
|
Osteolysis |
ORPHA:678 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-... |
OMIM:309000 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Menkes Disease |
|
Osteomyelitis, Hypoglycemia, Recurrent fractures, Tarsal synostosis, Osteoporosis, Joint hyperfle... |
ORPHA:565 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Small for gestational age, Ataxia, Failure to thrive in infancy, Aggressive beh... |
ORPHA:268261 |
Eisenmenger Syndrome |
|
Hyperuricemia, Abnormal B-type natriuretic peptide concentration, Elevated circulating C-reactive... |
ORPHA:97214 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Primary hyperaldosteronism, Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... |
OMIM:251100 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro... |
OMIM:210900 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Warburg Micro Syndrome 3 |
|
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Cerebral cortical atrophy, ... |
OMIM:614222 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619297 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seizure, Hydrocel... |
OMIM:277590 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Cryptorchidism, Unsteady gait, Generalized non-motor (absence) se... |
OMIM:617798 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:616355 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-... |
ORPHA:50918 |
Congenital Tufting Enteropathy |
|
Irritability, Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia |
ORPHA:79278 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Cerebellar atrophy, Cerebral atrophy, Dystonia |
OMIM:618397 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavio... |
OMIM:612313 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy, Weight loss |
ORPHA:2221 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C... |
ORPHA:100086 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Osteoporosis, Growth delay, Camptodactyly, Cortical irregularity |
OMIM:249420 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Hyperthyroidism, H... |
ORPHA:3455 |
Weill-Marchesani Syndrome 2 |
|
Short stature, Proportionate short stature, Joint stiffness, Elbow flexion contracture, Flexion c... |
OMIM:608328 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Osteomyelitis, Thrombocytopenia, Splenomegaly, Hepat... |
ORPHA:781 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Hypercalcemia |
ORPHA:476126 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hyperammonemia, Elevated circulating pal... |
ORPHA:79282 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor... |
OMIM:127550 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Bilateral tonic-clonic seizure, Pure red cell aplasia,... |
ORPHA:436159 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Irritability, Brai... |
ORPHA:447997 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia |
ORPHA:1827 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Zygomycosis |
|
Pancreatitis, Diabetes mellitus, Osteolysis |
ORPHA:73263 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Anemia, Truncal obesity, Dysdiadochokinesis,... |
OMIM:616541 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
OMIM:619476 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Alg9-Cdg |
|
Rhizomelia, Wide anterior fontanel, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nippl... |
ORPHA:79328 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353281 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Cerebral atrophy, Seizure, Recurrent pancreatitis, Cerebellar hypopla... |
OMIM:618268 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Corpus callosum atrophy, Diffuse cerebellar atrophy, Dystonic gait, Cerebral atrophy |
ORPHA:480898 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Spina bifida... |
ORPHA:904 |
Sotos Syndrome |
|
Joint laxity, Cryptorchidism, Increased body weight, Glucose intolerance, Neonatal hypoglycemia |
OMIM:117550 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Short stature, Thin bony cortex |
OMIM:619727 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia,... |
OMIM:612541 |
Gitelman Syndrome |
|
Hypomagnesemia, Growth delay, Hypokalemia, Increased circulating renin level, Delayed puberty, Fa... |
OMIM:263800 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Aa Amyloidosis |
|
Hepatomegaly, Enlarged kidney, Cholestasis |
ORPHA:85445 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion contracture, Severe intrauterine growth... |
OMIM:609069 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Intrauterine growth retardation, Hypoglycemia, Elbow contracture |
OMIM:620275 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Cryptorchidism, Cere... |
ORPHA:468631 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Neonatal death, Intra... |
OMIM:601186 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Lymphadenopathy, Weight loss |
ORPHA:142 |
Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Cachexia, Limited elbow movement, Osteoporosis, Slender build, ... |
ORPHA:558 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Resting tremor, Bilateral tonic-clonic seizure, Leukocytosis, Fulm... |
ORPHA:319213 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Cerebellar atrophy, Pancytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:620133 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia |
OMIM:230800 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hyperactive... |
OMIM:607364 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Osteolysis |
ORPHA:2396 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Broad-based gait, Bilateral tonic-clonic seizure, Elevated circulating aspartate am... |
OMIM:280000 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia |
ORPHA:169090 |
Mucolipidosis Type Ii |
|
Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard... |
ORPHA:576 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Polymyositis |
|
Arthritis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:732 |
Alagille Syndrome |
|
Hepatomegaly, Cryptorchidism, Cholestasis, Reduced number of intrahepatic bile ducts, Failure to ... |
ORPHA:52 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Shor... |
OMIM:206900 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Large for gestational age, Gait ataxia, Seizure, Cerebral cortical atrophy |
OMIM:617011 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici... |
OMIM:301074 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Leukocytosis, Cholestasis, Lethargy, Failure to thrive |
OMIM:620233 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Anemia, Hyperglycinemi... |
OMIM:620358 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Cryptorchidism, Cerebral atrophy,... |
OMIM:216400 |
Enteric Anendocrinosis |
|
Cholestatic liver disease, Portal hypertension |
ORPHA:83620 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Chikungunya |
|
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... |
ORPHA:324625 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Granulovacuolar degeneration, Bradykinesia, Irritabili... |
OMIM:609454 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration... |
ORPHA:48435 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Trichothiodystrophy |
|
Generalized-onset seizure, Cryptorchidism, Increased mean corpuscular hemoglobin concentration, G... |
ORPHA:33364 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th toe, Wide anterior fontanel, Hypogly... |
ORPHA:457279 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymphadenopathy, W... |
ORPHA:139402 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Flexion contracture, Disproportionate short-limb short stature, Small pituitary glan... |
OMIM:619479 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
ORPHA:572333 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hepatic failure, Cholelithiasis |
OMIM:177000 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Alagille Syndrome 2 |
|
Cholestatic liver disease, Cholestasis |
OMIM:610205 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Failure to thrive, Anemia |
OMIM:616457 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Supernumerary nipple, Seizure, Gait disturbance, Myoclonus |
ORPHA:247262 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,... |
ORPHA:677 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Proportionate short stature, Knee flexion contracture, Weight loss, Intraut... |
ORPHA:3208 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Short s... |
OMIM:194050 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypohidrosis, Hypokalemia |
OMIM:617671 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ataxia |
OMIM:610651 |
Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia, Steatorrhea |
OMIM:613471 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Hypoalbuminemia |
ORPHA:75565 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Growth delay, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Joint stiffness, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis,... |
OMIM:618820 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Small for gestational ag... |
ORPHA:464306 |
Kabuki Syndrome 2 |
|
Joint laxity, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine gr... |
OMIM:300867 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
Goodpasture Syndrome |
|
Weight loss, Anemia, Increased blood urea nitrogen |
OMIM:233450 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Elevated hemoglobin A1c, Bilateral tonic-clonic seizure |
OMIM:619278 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Ataxia, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, He... |
OMIM:266920 |
Distal Renal Tubular Acidosis |
|
Short stature, Osteomalacia, Rickets, Reduced bone mineral density, Growth delay, Increased susce... |
ORPHA:18 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Weight loss |
ORPHA:411703 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Bilateral tonic-clonic seizure, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic m... |
OMIM:301040 |
Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the menstrual cycle, Osteoarthritis, Cystocele, Limitation of joint mobility, Oste... |
ORPHA:285 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Hemangioma, Macroorchidism |
OMIM:619950 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Intrauterine growth retardation, Vesicovaginal fistula, Neonatal hyperbilirubinemia |
OMIM:300896 |
Chime Syndrome |
|
Osteolysis |
ORPHA:3474 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Hypokalemia, Hyperthyroidism, Short stature |
OMIM:170390 |
Stickler Syndrome |
|
Short stature, Cachexia, Osteoarthritis, Reduced bone mineral density, Joint hyperflexibility, Sl... |
ORPHA:828 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Cerebellar atrophy, Tremor, Partial absence of cerebellar vermis, Hydrocele testis, Athetosis, Se... |
ORPHA:280633 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Failure to thrive, Unconjugated hyperbilirubinemia |
OMIM:618278 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Bilateral tonic-clonic seizure |
OMIM:618832 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Ataxia, Postural tremor, Unstead... |
ORPHA:67036 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... |
OMIM:181000 |
Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proporti... |
ORPHA:3261 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... |
ORPHA:99867 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Aggressive behavior, Inability to walk, Cerebral atrophy, Seizure, Difficulty walking, Cholelithi... |
ORPHA:464738 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Partial absence of cerebellar vermis, Bilateral tonic-clonic seizure, Dandy-W... |
OMIM:619895 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma |
OMIM:610474 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
Biotinidase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generaliz... |
ORPHA:79241 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon... |
ORPHA:177907 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypospadias, Small for gestational age, Short stature, Cryptorchidism, Long... |
OMIM:264090 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... |
ORPHA:805 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia |
ORPHA:293173 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Inability to walk, Cryptorchidism, S... |
ORPHA:459070 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis, Intrauterine growth retardation |
OMIM:611812 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Right ventricular hype... |
OMIM:616028 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puber... |
ORPHA:649 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Multifocal seizures, Aggressive behavior, Obesity, Hepatosplenomegaly, Seizure, Cho... |
OMIM:301066 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... |
OMIM:266810 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Weight loss |
ORPHA:188 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Abnormality of the ovary, ... |
OMIM:209900 |
Hypoplasminogenemia |
|
Cervicitis, Decreased level of plasminogen, Abnormality of the ovary, Abnormal fallopian tube mor... |
ORPHA:722 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Short stature, Weight loss |
ORPHA:388 |
Hydranencephaly |
|
Stiff neck, Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgen... |
ORPHA:2177 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Failure to thrive in infancy, Wide anterior fontanel, Micropenis, Cent... |
ORPHA:798 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Female hypogonadism, Decreased serum leptin, Joint stiffness, L... |
ORPHA:740 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... |
OMIM:610199 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100080 |
14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, ... |
ORPHA:264200 |
Juvenile Dermatomyositis |
|
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... |
ORPHA:93672 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... |
ORPHA:466950 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Hypospadias, Hypercalcemia, Craniosynostosis, Phimosis, Ankle flex... |
ORPHA:821 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Aspartylglucosaminuria |
|
Arthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:93 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestational age |
OMIM:267000 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Bicarbonaturia, Reduced bone mineral density, G... |
ORPHA:47159 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Inability to walk, Cryptorchidism, Seizure, Dysphagia, Cerebellar vermis atrophy |
ORPHA:495818 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Bilateral tonic-clonic seizure, Weight loss, Generalized myoclonic seizure, Pancreatic hy... |
ORPHA:99885 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353277 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Obesity, Generalized non-motor (absence) sei... |
ORPHA:466943 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia |
ORPHA:309108 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l... |
ORPHA:449395 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100075 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Cachexia |
ORPHA:1969 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, Intrauterine grow... |
ORPHA:251071 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Increased density of long bones, Postnatal growth retardation, Sclerosis... |
OMIM:269150 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Inability to walk, Seizure, Severe failure to thrive, Cholelithiasis, Annular pancr... |
ORPHA:97297 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia |
OMIM:201450 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Lymphopenia, Anemia, Reduced bone mineral density |
ORPHA:935 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Small for gestational age, Bilateral tonic-clonic seizure, Cryptorchidism, Choreoa... |
OMIM:234100 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar... |
ORPHA:144 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Rheumatoid arthritis, Failure to thrive |
ORPHA:79128 |
Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
Riddle Syndrome |
|
Short stature, Elevated circulating alpha-fetoprotein concentration, Weight loss, Arthritis, Decr... |
ORPHA:420741 |
Fanconi Anemia |
|
Hypospadias, Short stature, Abnormal preputium morphology, Cryptorchidism, Reduced bone mineral d... |
ORPHA:84 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Atypical absence status epilepticus,... |
ORPHA:90068 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... |
ORPHA:1572 |
Rat-Bite Fever |
|
Lymphadenitis, Oligoarthritis, Weight loss, Anemia, Arthritis, Septic arthritis, Pancreatitis, Pa... |
ORPHA:31205 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss |
ORPHA:52417 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100082 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Seizure, Focal clonic seizure, Dysphagia, Dandy-Wa... |
ORPHA:171929 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Osteochondroma, Mild postnatal growth retardation, Growth delay, Osteoma, Rib exostos... |
OMIM:150230 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Monosomy 22Q13.3 |
|
Hyperactivity, Impaired pain sensation, Hair-pulling, Obesity, Seizure, Bruxism, Cerebellar corti... |
ORPHA:48652 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Supernumerary nipple... |
ORPHA:373 |
Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Failure to thrive, Anemia |
ORPHA:93598 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Cerebellar atrophy, Increased mean platelet volume, Seizure, Dandy-Walker malformation, Thrombocy... |
ORPHA:487796 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Czech Dysplasia |
|
Osteochondroma |
OMIM:609162 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypospadias, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to t... |
OMIM:220111 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia |
OMIM:611126 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Increased circulating androgen concentration, Premature adrenarche, Delayed pu... |
ORPHA:2976 |
Short Syndrome |
|
Diabetes mellitus, Severe short stature, Insulin resistance, Weight loss, Joint hyperflexibility |
ORPHA:3163 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Hyperhidrosis, Glycosuria, Hyp... |
ORPHA:466677 |
Holoprosencephaly 9 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Reduced bone mineral density, Glucose intolerance, Hashimoto thyroiditis, Premature o... |
ORPHA:881 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Delayed puberty, Elbow... |
OMIM:181450 |
Pseudoaminopterin Syndrome |
|
Short stature, Limited elbow movement, Sagittal craniosynostosis, Cryptorchidism, Patchy reductio... |
ORPHA:221120 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Small for gestational age, Thrombocytopenia |
OMIM:618775 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hypoglycemia, Polycystic ovaries |
ORPHA:137675 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Joint laxity, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryp... |
ORPHA:466791 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardation,... |
OMIM:236680 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Elevated circulating C-reactive protein concentration, Weight loss, Abnormali... |
ORPHA:900 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Thickened cortex of long bones |
ORPHA:488434 |
Stuve-Wiedemann Syndrome 1 |
|
Short stature, Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contrac... |
OMIM:601559 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron defic... |
ORPHA:100078 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Chronic mye... |
ORPHA:636 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Bilateral tonic-clonic seizure |
ORPHA:79350 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Neoplasm of the skin |
ORPHA:53715 |
Giant Cell Arteritis |
|
Joint stiffness, Mediastinal lymphadenopathy, Weight loss, Arthritis, Hepatic failure |
ORPHA:397 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism, Bilateral tonic-clonic seizure |
OMIM:300578 |
Knobloch Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Myoclonic seizure, Seizure |
OMIM:267750 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Neuromuscular Oculoauditory Syndrome |
|
Unsteady gait, Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618733 |
Acute Liver Failure |
|
Adrenal insufficiency, Hyperammonemia, Hypoglycemia |
ORPHA:90062 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Cerebellar vermis atrophy, Hypoplastic nipples, Dandy-Walker malformation |
OMIM:156610 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Microcytic anemia, Seizure, Cholecystitis, Cirrhosis, Cholelithiasis, Hepati... |
ORPHA:774 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic failure, Cholestasis, Reduced nu... |
OMIM:118450 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia |
OMIM:229700 |
W Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2804 |
1Q44 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:238769 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni... |
ORPHA:36426 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Anemia, Neutropenia, Pancreati... |
ORPHA:537 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, Obesity, Seizure |
OMIM:614947 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Tremor, Unsteady gait, Cerebral atrophy, Seizure, Status epilepticus, Myoclo... |
ORPHA:442835 |
Immunodeficiency 59 And Hypoglycemia |
|
Short stature, Hypoglycemia |
OMIM:233600 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia |
OMIM:614501 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Chordee, Intrauterine ... |
OMIM:619841 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Increased susceptibility to fractures, Weight loss |
ORPHA:216866 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Short stature, Hypoglycemia, Limited elbow movement, Rha... |
OMIM:218040 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma, Weight loss |
ORPHA:764 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Mednik Syndrome |
|
Cirrhosis, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Cardiac rhabdomyoma |
OMIM:618971 |
Trisomy 8P |
|
Cryptorchidism, Seizure, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Dandy-Walker ma... |
ORPHA:264450 |
Zttk Syndrome |
|
Absent gallbladder, Seizure, Status epilepticus, Cerebellar hypoplasia, Failure to thrive |
OMIM:617140 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Arthritis, Chronic lymphatic leukemia, Weight loss |
ORPHA:91139 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis |
OMIM:240300 |
Doors Syndrome |
|
Adrenal hyperplasia, Sagittal craniosynostosis, Congenital hypothyroidism, Ambiguous genitalia, S... |
ORPHA:79500 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Arthritis, Eosinophilia, Weight loss |
ORPHA:183 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Yao Syndrome |
|
Arthritis, Weight loss |
OMIM:617321 |
Beckwith-Wiedemann Syndrome |
|
Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Pancreatic hyperplas... |
OMIM:130650 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia |
OMIM:273395 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Elevated circulating alanine aminotransferase conc... |
OMIM:618500 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Abnormal morphology of female internal genitalia |
ORPHA:1848 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Aspartylglucosaminuria |
|
Macroorchidism |
OMIM:208400 |
Heterotaxy, Visceral, 5, Autosomal |
|
Cerebellar atrophy, Asplenia, Cerebral atrophy, Abdominal situs inversus, Cerebellar hypoplasia, ... |
OMIM:270100 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryp... |
OMIM:194190 |
Tetrasomy 9P |
|
Absent gallbladder, Hyperactivity, Cryptorchidism, Jaundice, Biliary atresia, Seizure, Inappropri... |
ORPHA:3310 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Diffuse cerebral atrophy, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchi... |
ORPHA:83617 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Decreased calvarial ossification, Aplasia of the uterus |
OMIM:619879 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
X Small Rings |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Epileptic spasm, Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Cry... |
ORPHA:438213 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Distal Duplication 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hemolytic anemia, Dystonia, Focal-onset seizure, Seizure, Limb dystonia |
OMIM:175780 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Weight loss |
OMIM:164310 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Cryptorchidism, Disproportionate short stature, Humeroradial synostosis, Apl... |
ORPHA:2879 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizu... |
OMIM:301044 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia, Subependymal nodules |
ORPHA:25 |
3-Methylglutaconic Aciduria, Type Viii |
|
Growth delay, Failure to thrive, Neonatal death, Neonatal hypoglycemia |
OMIM:617248 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Cerebellar atrophy |
OMIM:210730 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Truncal obesity,... |
OMIM:612474 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Vaginal neoplasm, Abnormality of the female genitalia, Weight loss, Failure to thrive, Uterine ne... |
ORPHA:1018 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Weight loss, Enlargement of ... |
ORPHA:79078 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Posterior pituitary agenesis, Maternal diabetes |
ORPHA:563612 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Small for gestational age, Biliary atresia, Pancreatic aplasia, Seizure, Aplasia/Hypoplasia of th... |
ORPHA:2255 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Generalized-onset seizure, Failure to thrive in infancy, Generalized non-moto... |
ORPHA:500150 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Oliver Syndrome |
|
Bilateral tonic-clonic seizure, Supernumerary nipple |
ORPHA:2920 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Craniosynostosis, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Short stature, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Osteolytic... |
OMIM:130050 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
Behçet Disease |
|
Orchitis, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Pancreatitis |
ORPHA:117 |
Chromosome 17Q12 Deletion Syndrome |
|
Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor... |
OMIM:614527 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Aplasia of the uterus |
ORPHA:3320 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:37 |
Nocardiosis |
|
Brain abscess, Liver abscess, Osteomyelitis, Lymphadenitis, Peritonitis, Weight loss, Cutaneous a... |
ORPHA:31204 |
Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
Holoprosencephaly 1 |
|
Short stature, Hypoglycemia, Adrenal hypoplasia, Micropenis, Diabetes insipidus |
OMIM:236100 |
Hermansky-Pudlak Syndrome |
|
Neutropenia, Weight loss |
ORPHA:79430 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Pallister-Hall Syndrome |
|
Osteochondroma, Short stature, Midline facial capillary hemangioma, Large for gestational age, Di... |
ORPHA:672 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Diffuse cerebellar atrophy, Testicular neoplasm |
ORPHA:71505 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Eosinophilia, Pancreatic cysts, Decreased circulating antibody level, Fused cervic... |
OMIM:274000 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Pancreatic aplasia |
ORPHA:556955 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Humeroradial synostos... |
OMIM:276820 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Absent external genitalia, Aplasia of the vagina, Aplasia of t... |
OMIM:271520 |
Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp... |
ORPHA:69085 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Bone marrow hypocellularity, Aplasia of the uterus, Intrauterine growth retardation... |
OMIM:614083 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Polysplenia |
ORPHA:1335 |
Coffin-Siris Syndrome 1 |
|
Joint laxity, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Aplasia o... |
OMIM:135900 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus |
OMIM:617466 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Stillbirth, Camptodactyly, Neonatal death, Intrauterine growth reta... |
OMIM:256520 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus, Vertebral fusion |
ORPHA:3109 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Biliary atresia, Seizure, Pancreatic hypoplasia |
OMIM:600001 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Ankle flexion contracture, Flexion contracture, E... |
ORPHA:2020 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Joint hypermobility, Aplasia of the uterus |
ORPHA:457284 |
African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Weight loss, Abnormal ... |
ORPHA:3385 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... |
OMIM:107480 |
Dermatomyositis |
|
Arthritis, Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Enthesitis, Weight loss, Arthritis |
ORPHA:29207 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Tracheomalacia, Cryptorchidism, Aplasia of the uterus, ... |
OMIM:618280 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia |
OMIM:261740 |
Orofaciodigital Syndrome Type 2 |
|
Bilateral tonic-clonic seizure |
ORPHA:2751 |
Chronic Graft Versus Host Disease |
|
Phimosis, Flexion contracture, Xerostomia, Weight loss, Arthritis, Abnormal vagina morphology |
ORPHA:99921 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
Peters-Plus Syndrome |
|
Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality, Cerebral atrophy, Seizure, Decre... |
OMIM:261540 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder |
OMIM:617925 |
Loeys-Dietz Syndrome |
|
Joint hyperflexibility, Camptodactyly of finger, Craniosynostosis, Uterine rupture |
ORPHA:60030 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Okamoto Syndrome |
|
Severe postnatal growth retardation, Joint hypermobility, Bifid uterus |
ORPHA:2729 |
Pallister-Killian Syndrome |
|
Anhidrosis, Small scrotum, Hypospadias, Rhizomelia, Supernumerary nipple, Mesomelic/rhizomelic li... |
OMIM:601803 |
Steinfeld Syndrome |
|
Absent gallbladder |
OMIM:184705 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Limb ataxia, Gait ataxia |
ORPHA:284282 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Bilateral tonic-clonic seizure with focal onset, Autoimmune thrombocytopenia, C... |
OMIM:147920 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder |
ORPHA:96176 |
Developmental And Epileptic Encephalopathy 28 |
|
Seizure, Status epilepticus, Cerebral atrophy |
OMIM:616211 |