| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Major Affective Disorder 2 |
|
Bipolar affective disorder |
OMIM:309200 |
| Lithium Transport |
|
Bipolar affective disorder |
OMIM:152420 |
| Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Major Affective Disorder 1 |
|
Depression |
OMIM:125480 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Steppage gait, Vestibular Schwannoma |
OMIM:613641 |
| Severe Primary Trimethylaminuria |
|
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety |
ORPHA:468726 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Intellectual Developmental Disorder, X-Linked 63 |
|
Anxiety |
OMIM:300387 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
| Deafness, X-Linked 6 |
|
Hearing impairment, Cochlear malformation |
OMIM:300914 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:609968 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... |
ORPHA:293964 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... |
OMIM:615411 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... |
ORPHA:71526 |
| Acute Zonal Occult Outer Retinopathy |
|
Visual loss, Central scotoma, Visual field defect, Retinal pigment epithelial mottling, Vitritis,... |
ORPHA:284454 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Lipoatrophy, Polycystic... |
ORPHA:280356 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... |
OMIM:604317 |
| Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology, Sensorineural hearing impairment |
ORPHA:3465 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... |
OMIM:615412 |
| Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... |
OMIM:619326 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... |
ORPHA:79084 |
| Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... |
OMIM:619274 |
| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... |
ORPHA:79506 |
| Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... |
OMIM:147630 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset truncal ob... |
ORPHA:71529 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... |
ORPHA:263458 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... |
ORPHA:79299 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Focal whi... |
OMIM:607341 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... |
OMIM:308750 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Lissencephaly 1 |
|
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Secondary... |
OMIM:607432 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hypoplasia of the corpus callosum, Severe sensorineural hearing impairme... |
OMIM:604213 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Eu... |
OMIM:308700 |
| Sub-Cortical Nodular Heterotopia |
|
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... |
ORPHA:101029 |
| Lissencephaly, X-Linked, 1 |
|
Pachygyria, Gray matter heterotopia, Postnatal growth retardation, Agyria, Agenesis of corpus cal... |
OMIM:300067 |
| Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Small cerebral cortex, Abnormal cerebral morphology, Abnormal neuron morphology, Simplified gyral... |
ORPHA:329228 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... |
ORPHA:453533 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... |
ORPHA:411593 |
| Opticocochleodentate Degeneration |
|
Hearing impairment, Optic atrophy, Cochlear degeneration |
OMIM:258700 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... |
OMIM:610600 |
| Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... |
OMIM:600348 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... |
ORPHA:324575 |
| Phosphoserine Phosphatase Deficiency |
|
Intrauterine growth retardation, Microcephaly, Cerebral atrophy, Postnatal growth retardation |
OMIM:614023 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Stargardt Disease |
|
Nyctalopia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial mottling, Retinal ... |
ORPHA:827 |
| Arnold-Chiari Malformation Type I |
|
Adult onset sensorineural hearing impairment, Vertigo, Gait ataxia, Cranial nerve compression, Pr... |
ORPHA:268882 |
| Progressive Non-Fluent Aphasia |
|
Astrocytosis, Temporal cortical atrophy, Abnormal cerebral white matter morphology, Abnormal lowe... |
ORPHA:100070 |
| Lissencephaly 3 |
|
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, M... |
OMIM:611603 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad |
OMIM:616033 |
| Mismatch Repair Cancer Syndrome 4 |
|
Astrocytoma, Glioblastoma multiforme, Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:619101 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... |
ORPHA:276608 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... |
ORPHA:276580 |
| Glucocorticoid Deficiency 5 |
|
Abnormal response to ACTH stimulation test, Decreased circulating cortisol level |
OMIM:617825 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortical dysplasia, Micro... |
OMIM:618709 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... |
OMIM:604367 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... |
OMIM:608097 |
| Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... |
ORPHA:556037 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... |
ORPHA:276575 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormality of the ribs |
ORPHA:100073 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hearing impairment, Cortical dysplasi... |
OMIM:617201 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells |
OMIM:600333 |
| Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
| Pendred Syndrome |
|
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... |
ORPHA:705 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... |
ORPHA:79085 |
| Hypogonadotropic Hypogonadism 23 Without Anosmia |
|
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... |
OMIM:228300 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... |
OMIM:105550 |
| Developmental And Epileptic Encephalopathy 14 |
|
Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system |
OMIM:614959 |
| Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... |
ORPHA:556030 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis |
OMIM:618369 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Microcephaly, Short stature |
OMIM:618572 |
| Hemimegalencephaly |
|
Pachygyria, Gliosis, Gray matter heterotopia, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy |
OMIM:232700 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Gliosis, Degeneration of anterior horn cells |
OMIM:604484 |
| Cherubism |
|
Macular scar, Lower eyelid retraction, Reduced visual acuity, Constriction of peripheral visual f... |
OMIM:118400 |
| Lissencephaly 5 |
|
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... |
OMIM:615191 |
| Insulinoma |
|
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the adrenal gland, Pituitary prolact... |
ORPHA:97279 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Pachygyria, Agyria, Gray matter heterotopia |
ORPHA:1084 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Po... |
ORPHA:435651 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Deafness, X-Linked 2 |
|
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... |
OMIM:304400 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... |
ORPHA:435660 |
| Huntington Disease |
|
Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system |
OMIM:143100 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... |
ORPHA:99886 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:619245 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Microcephaly, Cerebral calcification, Abnormality of neuronal mi... |
ORPHA:1980 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism |
OMIM:103900 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr... |
ORPHA:352682 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... |
ORPHA:276556 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... |
ORPHA:66628 |
| Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea |
OMIM:611548 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
| Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Microcephaly |
OMIM:618185 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
| Chorea, Benign Hereditary |
|
Anxiety |
OMIM:118700 |
| Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... |
OMIM:618723 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Abnormality of the pinna, Ataxia, Hyperactivity |
OMIM:300983 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries |
ORPHA:393 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Progressive sensorineural hearing impairment, Cochlear degeneration, Astrocytosis |
OMIM:172500 |
| Pendred Syndrome |
|
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment |
OMIM:274600 |
| Superficial Siderosis |
|
Dysdiadochokinesis, Vertigo, Progressive gait ataxia, Limb ataxia, Ataxia, Unsteady gait, Abnorma... |
ORPHA:247245 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... |
ORPHA:300573 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... |
ORPHA:179494 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Ty... |
ORPHA:3085 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... |
OMIM:614841 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... |
ORPHA:363400 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... |
OMIM:619146 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... |
ORPHA:791 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... |
OMIM:262190 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Periventricular ribbonlike heterotopia, Hypoplasia of the corpus callosum, Thick cerebral cortex,... |
OMIM:618677 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Facial palsy, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Premature Ovarian Failure 9 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea |
OMIM:615724 |
| Mody |
|
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... |
ORPHA:552 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Obesity |
OMIM:614962 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormality of the ribs |
ORPHA:2435 |
| Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Familial Hyperprolactinemia |
|
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Gliosis, Neuronal loss in central nervous system |
OMIM:604218 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Cerebral... |
ORPHA:204 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
| Branchiootic Syndrome 1 |
|
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... |
OMIM:602588 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular Schwannoma, Sensorineural hearing impairment |
OMIM:603641 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Failur... |
OMIM:602579 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, Increased... |
OMIM:151660 |
| Meningioma |
|
Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Obesity, Neoplasm of the posteri... |
ORPHA:2495 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Gliosis, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Diff... |
OMIM:614946 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... |
ORPHA:263455 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Panhypopituitarism, Decreased circulating ACTH level, Overweight, Decreased circulating follicle ... |
ORPHA:226307 |
| Ovarian Dysgenesis 2 |
|
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... |
OMIM:300510 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90793 |
| Perlman Syndrome |
|
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancrea... |
ORPHA:2849 |
| Congenital Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose tissue loss, Lipodyst... |
ORPHA:528 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... |
ORPHA:1227 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
| Pick Disease Of Brain |
|
Gliosis, Neuronal loss in central nervous system |
OMIM:172700 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Macular degeneration, Reduced visual acuity, Peripapillary atrophy, Abnormal flash visual evoked ... |
OMIM:618195 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Intrauterine growth retardation, Microcephaly, Short stature, Abnormality of neuronal migration |
ORPHA:2216 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Increased ... |
OMIM:615830 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Optic Atrophy 11 |
|
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy |
OMIM:617302 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids |
|
Gliosis, Neuronal loss in central nervous system |
OMIM:221820 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Small for gestation... |
ORPHA:79237 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Basal ganglia gliosis, Basal ganglia cysts, Atrophy/Degeneration involving the caud... |
ORPHA:225154 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Lethargy, Hyperactivity |
OMIM:274270 |
| Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... |
OMIM:612964 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... |
OMIM:246200 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... |
OMIM:615723 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis, Abnormal cerebral white matter morphology, Frontotemporal cerebral atrophy |
ORPHA:275864 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Abnormality of the ribs |
ORPHA:3268 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Gonadoblastoma |
|
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... |
ORPHA:206484 |
| Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia, Growth delay, Short stature, Hypoplasia of the frontal lobes... |
ORPHA:2512 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia |
OMIM:201910 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis, Cerebral cortical atrophy |
OMIM:600795 |
| Waardenburg Syndrome, Type 2E |
|
Hypoplasia of the semicircular canal, Morphological abnormality of the vestibule of the inner ear... |
OMIM:611584 |
| Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... |
OMIM:619203 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Dysphagia |
OMIM:611637 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Degeneration of the lateral corticospinal tracts, Gliosis, Global brain atrophy, Abnormal lower m... |
ORPHA:275872 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... |
ORPHA:276152 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... |
ORPHA:3453 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... |
ORPHA:2298 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
| Pandas |
|
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... |
ORPHA:66624 |
| Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Vestibular dysfunction, Ab... |
ORPHA:52368 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Cerebral atrophy, Caudate atrophy, Gliosis |
OMIM:221770 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia |
OMIM:615863 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LD... |
OMIM:615703 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Slender build, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micronodular adren... |
ORPHA:189439 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Pachygyria, Gliosis, Abnormal astrocyte morphology |
ORPHA:168486 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... |
OMIM:612310 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... |
ORPHA:99429 |
| Deafness-Hypogonadism Syndrome |
|
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... |
ORPHA:90646 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... |
OMIM:144250 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity |
OMIM:616657 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity |
ORPHA:436151 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... |
OMIM:219080 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Mandibuloacral Dysplasia |
|
Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Increase... |
ORPHA:2457 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... |
OMIM:605814 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Low-set ears, Neo... |
OMIM:611890 |
| Brain Small Vessel Disease 2 |
|
Porencephalic cyst, Growth delay, Subcortical heterotopia, Polymicrogyria, Schizencephaly |
OMIM:614483 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Ataxia, Absent brainst... |
ORPHA:1215 |
| Symmetrical Thalamic Calcifications |
|
Microcephaly, Cerebral calcification, Abnormality of neuronal migration |
ORPHA:1314 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Diabetes mellitus, Failure to thrive, Macronodular adrenal hyperplasia |
ORPHA:189427 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Goiter, Premature ovarian insufficiency, Retinal dystrophy |
OMIM:617175 |
| Distal Monosomy 10Q |
|
Cochlear malformation, Abnormality of the outer ear, Morphological abnormality of the vestibule o... |
ORPHA:96148 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Gliosis |
OMIM:612936 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... |
OMIM:612885 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Dysphagia, Abnormal upper motor neuron morphology, Abnormal cerebellum morpholog... |
OMIM:607694 |
| Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... |
ORPHA:79086 |
| 3-Hydroxyisobutyric Aciduria |
|
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification |
OMIM:236795 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis |
OMIM:225753 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obe... |
OMIM:615633 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis, Megalencephaly |
OMIM:611087 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... |
OMIM:608612 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616829 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Undulate ribs, Missing ribs |
ORPHA:1801 |
| Familial Hyperaldosteronism Type Ii |
|
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Global brain atrophy |
OMIM:236792 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis |
OMIM:615095 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... |
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... |
OMIM:610489 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Dysphagia |
ORPHA:247604 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Neuronal loss in central nervous system |
OMIM:607136 |
| Optic Atrophy 8 |
|
Visual loss, Prolonged somatosensory evoked potentials, Central scotoma, Abnormality of pattern v... |
OMIM:616648 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Gliosis, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy, Neuronal loss in central nervou... |
OMIM:256600 |
| Subependymal Nodular Heterotopia |
|
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... |
ORPHA:101030 |
| Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
| Familial Hyperaldosteronism Type I |
|
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... |
OMIM:608594 |
| Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:945 |
| Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Breast hypoplasi... |
ORPHA:785 |
| Lissencephaly 6 With Microcephaly |
|
Pachygyria, Periventricular heterotopia, Macrotia, Hypoplasia of the corpus callosum, Polymicrogy... |
OMIM:616212 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
| X-Linked Acrogigantism |
|
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... |
ORPHA:300373 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction |
ORPHA:231183 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... |
ORPHA:89844 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Benign Schwannoma |
|
Abnormal cranial nerve morphology, Vertigo, Abnormality of peripheral nervous system electrophysi... |
ORPHA:252164 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
| Oculocutaneous Albinism Type 1 |
|
White eyebrow, Reduced visual acuity, Abnormal morphology of the choroidal vasculature, Amblyopia... |
ORPHA:352731 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries |
ORPHA:242 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Gliosis, Neuronal loss in central nervous system |
OMIM:614498 |
| Adrenocortical Carcinoma |
|
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... |
ORPHA:1501 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Dysmetria, Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Ataxia |
OMIM:614306 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... |
OMIM:269700 |
| Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Diffuse spongiform leukoencephalopathy, Focal T2 hyperintense basal ganglia lesion |
ORPHA:282166 |
| Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction |
ORPHA:231169 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Long eyelashes, Amblyopia, Ptosis, Downslanted palpebral fissures, Abnormality of visual evoked p... |
OMIM:617523 |
| Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Abnormality of retinal pigmentation, Tremor, Nyctalopia, Ataxia, Dysmetria, V... |
ORPHA:96 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Macroorchidism, Hypog... |
ORPHA:90790 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia |
OMIM:300928 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Impaired glucose tolerance, Flexion contracture, Increased adipose tissue aroun... |
OMIM:248370 |
| Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Palmar neurofibromas, Bilateral vestibular Schwannoma, Paraspinal neurofibromas |
OMIM:162260 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Flexion c... |
OMIM:613327 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... |
ORPHA:314478 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Multinodular goiter, Elevated hepatic transaminase, Hypergonadotropic hypogonad... |
OMIM:203800 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Hyp... |
ORPHA:90796 |
| Dysplastic Cortical Hyperostosis |
|
Microcephaly, Short stature, Abnormality of neuronal migration |
ORPHA:2204 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Gray matter heterotopia, Posteriorly rotated ears, Sensorineural hearing impairment... |
OMIM:615219 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervous system |
OMIM:616239 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased serum leptin, Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistanc... |
ORPHA:280365 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gliosis |
OMIM:213200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Abnormal periventricular white matter morphology, Short stature, Abnormality of neuro... |
OMIM:608840 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... |
ORPHA:90791 |
| Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
| Mental Retardation, Autosomal Dominant 13 |
|
Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Abnormality of neuronal migration |
OMIM:614563 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of neuronal migration, Intrauterine growth retarda... |
ORPHA:2772 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Peripheral demyelination, Peripheral hypomyelination, Abnor... |
OMIM:609136 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism |
OMIM:613677 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Neonatal hyp... |
ORPHA:71212 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... |
OMIM:602433 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... |
ORPHA:1916 |
| Friedreich Ataxia |
|
Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Im... |
OMIM:229300 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Gliosis, Cerebral atrophy, Polymicrogyria, Cerebellar gliosis |
ORPHA:79243 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Gliosis |
OMIM:214150 |
| Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Visual impairment, Optic atrophy, Abnormality of ... |
ORPHA:141 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Microcephaly, Abnormal cerebral white matter morphology, Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
| Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Retinal dystrophy, Decreased circulating gonadotropin concentratio... |
OMIM:215470 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hearing impairment, Optic atrophy, Hyperactivity |
ORPHA:369939 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Gliosis, Abnormal cerebral white matter morphology, Abnormality of neuronal migration, Sensorineu... |
OMIM:300957 |
| Thoracolaryngopelvic Dysplasia |
|
Slender build, Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions |
OMIM:187760 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Macrotia |
OMIM:301013 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Positive Romberg sign, Decreased motor nerve conduction velocity, Central scotoma, Color vision d... |
OMIM:601152 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... |
ORPHA:2138 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... |
OMIM:615300 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Myopia, Epicanthus, Respiratory insufficiency, Optic atrophy, Abnormality of visual evoked potent... |
ORPHA:2971 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Lissencephaly, X-Linked, 2 |
|
Pachygyria, Gliosis, Lissencephaly |
OMIM:300215 |
| Amyotrophic Lateral Sclerosis 21 |
|
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper ... |
OMIM:606070 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Gliosis, Degeneration of anterior horn cells |
OMIM:118301 |
| Endosteal Hyperostosis, Worth Type |
|
Abnormality of the ribs, Clavicular sclerosis |
ORPHA:2790 |
| Craniodiaphyseal Dysplasia |
|
Abnormality of the ribs |
ORPHA:1513 |
| Neurofibromatosis, Type Ii |
|
Vertigo, Bilateral vestibular Schwannoma, Ataxia, Occasional neurofibromas, Hearing impairment, U... |
OMIM:101000 |
| Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... |
ORPHA:2795 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... |
OMIM:616000 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... |
ORPHA:474 |
| Familial Hyperaldosteronism Type Iii |
|
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:251274 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormality of the ribs, Narrow chest |
ORPHA:1354 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal upper motor neuron morphology, Dysphagia, Abnormal lower motor neuron morphology, Amyotr... |
OMIM:205100 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Neurogenic bladder, Abnormal upper motor neuron morphology, Orthostatic hypotension |
OMIM:263570 |
| Cushing Disease |
|
Lipodystrophy, Truncal obesity, Failure to thrive, Diabetes mellitus, Adrenal hyperplasia, Premat... |
ORPHA:96253 |
| Desmosterolosis |
|
Pachygyria, Abnormality of earlobe, Hydrocephalus, Absent septum pellucidum, Large earlobe, Low-s... |
ORPHA:35107 |
| Walker-Warburg Syndrome |
|
Pachygyria, Hydrocephalus, Absent septum pellucidum, Abnormality of neuronal migration, Low-set e... |
ORPHA:899 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae |
OMIM:602196 |
| Bor Syndrome |
|
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... |
ORPHA:107 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Head tremor, Abnormal motor neuron morphology, Intention tremor |
OMIM:613724 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:614373 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Cerebral cortical atrophy, Gliosis |
OMIM:277470 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Dysphagia, Abnormal lower motor neuron morphology, Sensorineural hearing impairment, High... |
ORPHA:2590 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Inguinal hernia, Congenital adrenal hyperplasia, Increased serum testosterone l... |
ORPHA:96181 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Gliosis |
ORPHA:157941 |
| Temple Syndrome |
|
Hypercholesterolemia, Overweight, Hypertriglyceridemia, Truncal obesity, Small for gestational age |
OMIM:616222 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:300894 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Truncal obesity, Failure to thrive |
ORPHA:181393 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Narrow internal au... |
ORPHA:990 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Dysphagia |
OMIM:606353 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... |
ORPHA:786 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Hyperactivity |
OMIM:609425 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Gliosis, Neurodegeneration |
OMIM:618321 |
| Branchiogenic Deafness Syndrome |
|
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... |
ORPHA:50815 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... |
OMIM:610706 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... |
OMIM:615925 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration, Cerebral cortical atrophy, Protruding ear, Short stature, Intr... |
ORPHA:2518 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... |
ORPHA:255138 |
| Leigh Syndrome |
|
Hepatocellular necrosis, Gliosis |
OMIM:256000 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Chorioretinal coloboma, Retinal coloboma, Iris coloboma, Severely reduced visual acuity, Moderate... |
ORPHA:2921 |
| Galloway-Mowat Syndrome |
|
Pachygyria, Hypoplasia of the ear cartilage, Macrotia, Aqueductal stenosis, Abnormality of neuron... |
ORPHA:2065 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Su... |
OMIM:614643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Anencephaly, Cortical dysplasia, A... |
OMIM:615287 |
| Functioning Gonadotropic Adenoma |
|
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... |
ORPHA:91348 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Diffuse axonal swelling, Gait disturbance, Abnormal autonomic nervous system physiology... |
ORPHA:35069 |
| Leukoencephalopathy With Vanishing White Matter |
|
Gliosis |
OMIM:603896 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal response to ACTH stimulation test, Increased circulating corticosterone level, Elevated ... |
ORPHA:95699 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:617672 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
| Apparent Mineralocorticoid Excess |
|
Abnormality of circulating cortisol level, Decreased circulating renin level, Decreased circulati... |
ORPHA:320 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Ataxia With Vitamin 3 Deficiency |
|
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
| Mental Retardation, Autosomal Recessive 39 |
|
Hyperactivity, Anteverted ears, Macrotia |
OMIM:615541 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... |
OMIM:202010 |
| Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:603776 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hypopla... |
ORPHA:247768 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression |
ORPHA:52430 |
| Thanatophoric Dysplasia, Type I |
|
Lethal short-limbed short stature, Gray matter heterotopia, Severe short stature, Neonatal death,... |
OMIM:187600 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system |
OMIM:301790 |
| Mosaic Trisomy 14 |
|
Abnormality of the ribs, Failure to thrive, Narrow chest |
ORPHA:1703 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity |
OMIM:618090 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the ribs, Short thorax, Missing ribs, Rib fusion |
OMIM:613686 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial mottling, Chorioretinal atrophy, Color vision defect, Visual impairmen... |
ORPHA:364055 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Ptosis, Visual impairment, Decreased nerve conduction velocity, Abnormality of visual evo... |
ORPHA:1933 |
| Thanatophoric Dysplasia Type 2 |
|
