| 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 |
| Major Depressive Disorder |
|
Depression |
OMIM:608516 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Major Affective Disorder 1 |
|
Depression |
OMIM:125480 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
| Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
| Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
| Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:614842 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:614839 |
| 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 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
| Schwannomatosis 1 |
|
Peripheral schwannoma, Vestibular schwannoma |
OMIM:162091 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:616030 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
| Acute Zonal Occult Outer Retinopathy |
|
Blurred vision, Photopsia, Abnormal retinal vascular morphology, Rod-cone dystrophy, Hemianopia, ... |
ORPHA:284454 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
| Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... |
ORPHA:79084 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut... |
OMIM:615411 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Postnata... |
OMIM:300067 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia |
OMIM:202150 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Severe sensorine... |
OMIM:604213 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... |
OMIM:610600 |
| Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellit... |
OMIM:604367 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:616950 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Glucocorticoid Deficiency 5 |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity, Elevated hepatic transaminase |
ORPHA:329249 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... |
ORPHA:276580 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum, Glioblastoma multiforme |
OMIM:619101 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556037 |
| Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Adult onset sensorineural hearing impairment, Abnormalit... |
ORPHA:268882 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... |
ORPHA:276575 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... |
ORPHA:101029 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619761 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
| Pendred Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... |
ORPHA:705 |
| Lissencephaly 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... |
OMIM:611603 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis |
OMIM:300857 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adip... |
ORPHA:79085 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Amyotrophic late... |
OMIM:105550 |
| Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556030 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:108420 |
| Cherubism |
|
Marcus Gunn pupil, Lower eyelid retraction, Macular scar, Constriction of peripheral visual field... |
OMIM:118400 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adipon... |
OMIM:615238 |
| Hemimegalencephaly |
|
Gray matter heterotopia, Gliosis, Pachygyria, Abnormal neuron morphology, Polymicrogyria |
ORPHA:99802 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Decreased serum leptin, Polycysti... |
ORPHA:435651 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... |
OMIM:616033 |
| Insulinoma |
|
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycemia, Neuroendocr... |
ORPHA:97279 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
| Developmental And Epileptic Encephalopathy 71 |
|
Simplified gyral pattern, Gliosis |
OMIM:618328 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
| Huntington Disease |
|
Neuronal loss in central nervous system, Cerebellar atrophy, Gliosis |
OMIM:143100 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Developmental And Epileptic Encephalopathy 14 |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis |
OMIM:614959 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Gliosis, Degeneration of anterior horn cells |
OMIM:604484 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
| Glucocorticoid Deficiency 2 |
|
Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
| Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... |
ORPHA:99886 |
| Leptin Deficiency Or Dysfunction |
|
Decreased testicular size, Decreased serum leptin, Obesity, Hypogonadism |
OMIM:614962 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276556 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Agyria, Pachygyria |
ORPHA:1084 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Keloids, Decreased testicular size, Type II diabetes mellitus, Polycystic ovari... |
ORPHA:3085 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... |
ORPHA:363400 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Abnormal testis morphology, Hypogonadism, Type II diabetes mellitus, Atypical s... |
ORPHA:791 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy |
OMIM:604218 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Hypoglyce... |
OMIM:262190 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
| Band Heterotopia |
|
Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi... |
OMIM:600348 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia |
OMIM:608320 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... |
ORPHA:293964 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Unilateral vestibular schwannoma |
OMIM:603641 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia |
OMIM:608097 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance |
ORPHA:369873 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... |
OMIM:151660 |
| Pendred Syndrome |
|
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:274600 |
| Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... |
ORPHA:90793 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Primary hyperco... |
OMIM:615830 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
| Perlman Syndrome |
|
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Fe... |
ORPHA:2849 |
| Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... |
OMIM:300614 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Global brain atrophy, Corpus callosum atrophy, Gliosis |
OMIM:221820 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Adipose tissue lo... |
ORPHA:528 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Facial diplegia, Dystonia, Low-set ears, Neonatal death, ... |
OMIM:611890 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Bre... |
OMIM:615363 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Optic atrophy, Abnormal pinna morphology |
OMIM:300983 |
| Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital encephalocele |
ORPHA:352682 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:3268 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Cerebellar atrophy, Gliosis, Cerebral atrophy |
OMIM:615095 |
| Meningioma |
|
Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo... |
ORPHA:2495 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... |
ORPHA:79237 |
| Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Adipose tissue loss, Severe failure to th... |
OMIM:246200 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia, Hypoglycemia |
OMIM:201910 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Ultra-low vision, Reduced visual acuity, Retinal dots, Retinal pigment epithelial ... |
OMIM:608553 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Dysphagia |
OMIM:611637 |
| Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... |
OMIM:113650 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Abnormal lower motor neuron morphology, Gliosis, Degeneration of the latera... |
ORPHA:275872 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
| Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Decreased compound muscle action potential amplitude, Abnormal upper moto... |
OMIM:606353 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
| Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... |
ORPHA:2298 |
| Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... |
OMIM:303110 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
| Thoracic Dysostosis, Isolated |
|
Bell-shaped thorax, Pectus excavatum, Short ribs |
OMIM:187750 |
| Spermatogenic Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Abnormal circulating testosterone concen... |
OMIM:615842 |
| Morbid Obesity And Spermatogenic Failure |
|
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... |
OMIM:615703 |
| Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... |
OMIM:611584 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Optic atrophy |
OMIM:619470 |
| Superficial Siderosis |
|
Abnormality of the brachial nerve plexus, Vertigo, Abnormality of the vestibulocochlear nerve, Bi... |
ORPHA:247245 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:1980 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... |
OMIM:604317 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Contractures of the large joints, Insulin resistance, Increased adipose tissue ... |
ORPHA:2457 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Pachygyria |
ORPHA:168486 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... |
ORPHA:189439 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Short stature, Intrauterine growth retardation |
ORPHA:2216 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Cerebral atrophy, Gliosis, Caudate atrophy |
OMIM:221770 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Progressive visual loss, Temporal optic disc pallor, Abnormal retinal nerve fiber layer morpholog... |
ORPHA:1215 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy |
OMIM:274270 |
| Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... |
ORPHA:404 |
| Lissencephaly 5 |
|
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi... |
OMIM:615191 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Acute pan... |
ORPHA:79086 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis |
ORPHA:204 |
| Subependymal Nodular Heterotopia |
|
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... |
ORPHA:101030 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Mohr-Tranebjaerg Syndrome |
|
Cerebral visual impairment, Generalized dystonia, Aspiration pneumonia, Abnormality of somatosens... |
ORPHA:52368 |
| Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Short stature, Growth delay, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Narrow chest, Lateral clavicle hook, Short ribs |
OMIM:617405 |
| Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Abnormal auditory evoked potentia... |
OMIM:616648 |
| Usher Syndrome Type 3 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231183 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Spinocerebellar Ataxia 17 |
|
Neuronal loss in central nervous system, Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis |
OMIM:607136 |
| Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Abnormality of retinal pigmentation, Ataxia, Dysmetria, Tremor, Dystonia, Vis... |
ORPHA:96 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Thoracic dysplasia, Lateral clavicle hook, Narrow chest, Obe... |
OMIM:615633 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Cerebral cortical atrophy, Gliosis |
OMIM:618369 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Dysphagia |
ORPHA:247604 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis |
OMIM:225753 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
| Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Narrow chest, Undulate ribs |
ORPHA:1801 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic fibrosis, Cirrhosis, Hepatic failure, Hyperinsulinemic hypoglycemia, Failure to thrive, H... |
OMIM:602579 |
| Familial Hyperaldosteronism Type I |
|
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... |
ORPHA:403 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
| Distal Monosomy 10Q |
|
Cochlear malformation, Morphological abnormality of the vestibule of the inner ear, Abnormality o... |
ORPHA:96148 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Cerebellar vermis atrophy, Gliosis |
OMIM:213200 |
| Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... |
ORPHA:1501 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Basal ganglia gliosis |
ORPHA:225154 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
| Usher Syndrome Type 1 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231169 |
| Oculocutaneous Albinism Type 1 |
|
Amblyopia, Depigmented fundus, Reduced visual acuity, White eyelashes, Optic nerve misrouting, Wh... |
ORPHA:352731 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Abnormal flash visual evoked potentials, Optic disc pallor, Macular degene... |
OMIM:618195 |
| L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Global brain atrophy, Corpus callosum atrophy, Gliosis |
OMIM:236792 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Decreased adipose tissue around neck, Loss of facial adipo... |
OMIM:608612 |
| Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:945 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Jaundice,... |
ORPHA:90790 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Cerebellar atrophy, Neurodege... |
OMIM:256600 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
| Lissencephaly 6 With Microcephaly |
|
Macrotia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephal... |
OMIM:616212 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
| Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Palmar neurofibromas, Bilateral vestibular schwannoma, Paraspinal neurofibromas |
OMIM:162260 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Cerebellar gliosis, Gliosis, Cerebral atrophy, Polymicrogyria |
ORPHA:79243 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Periventricular heterotopia, Short stature, Simplified gyral pattern, Partial agenesis of the cor... |
OMIM:616171 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis |
OMIM:611087 |
| Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Brain atrophy, Diffuse cerebral atrophy, Gliosis, Cerebellar atrophy, Neurodegeneration |
OMIM:214150 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Basal ganglia gliosis, Brain atrophy, Neuronal loss in central nervous system, Gliosis, Cerebral ... |
OMIM:604377 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Primary gonadal insufficiency, Decreased serum estradiol, Abnormal circulating corticosterone lev... |
ORPHA:90796 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
| Mepan Syndrome |
|
Chorea, Optic atrophy, Limb dystonia, Hemidystonia, Ataxia, Axial dystonia, Dystonia, Craniofacia... |
ORPHA:508093 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... |
OMIM:610475 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, 4-layered lissencephaly, Microlissencephaly, Low-set ears, Int... |
ORPHA:89844 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Sensorineural hearing impairment, Simplified gyral pattern, Communicatin... |
OMIM:615219 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... |
ORPHA:280365 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia |
OMIM:613677 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebral cortical atrophy, Basal ganglia gliosis, Diffuse cerebral atrophy, Gliosis, Cerebral atr... |
OMIM:614946 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Impaired glucose toleranc... |
OMIM:248370 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Elevated hepatic transaminase, Hyperinsulinemic hypog... |
ORPHA:71212 |
| Canavan Disease |
|
Blindness, Optic atrophy, Abnormality of retinal pigmentation, Visual impairment, Abnormality of ... |
ORPHA:141 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor |
OMIM:613724 |
| Friedreich Ataxia |
|
Gait ataxia, Optic atrophy, Visual field defect, Decreased amplitude of sensory action potentials... |
OMIM:229300 |
| Lissencephaly, X-Linked, 2 |
|
Pachygyria, Gliosis, Lissencephaly |
OMIM:300215 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Bell-shaped thorax, Irregular chondrocostal junctions, Short ribs, Slender build |
OMIM:187760 |
| Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Chorioretinal dystrophy, Retinal dystrophy, Decreased circulating ... |
OMIM:215470 |
| Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperpl... |
ORPHA:96181 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Neuronal loss in central nervous system, Cerebellar atrophy, Neurodegeneration, Gliosis |
OMIM:616239 |
| Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis |
ORPHA:282166 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Hearing impairment, Optic atrophy |
ORPHA:369939 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Downslanted palpebral fissures, Amblyopia, Abnormal auditory evoked potentials, Long eyelashes, P... |
OMIM:617523 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Hepatic... |
OMIM:613327 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible primary hyperal... |
ORPHA:251274 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Slow decrease in visual acuity, Optic atrophy, Decreased motor nerve conduction velocity, Distal ... |
OMIM:601152 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Respiratory insufficiency, Optic atrophy, Epicanthus, Myopia, Abnormality of visual evoked potent... |
ORPHA:2971 |
| Leber Congenital Amaurosis |
|
Hearing impairment, Encephalocele, Abnormality of neuronal migration |
ORPHA:65 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
| Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Growth delay, Polymicrogyria |
OMIM:614483 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal rib morphology |
ORPHA:1354 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Sensorineural hearing impairment, Abnormal lower motor neuron morphology, Tremor, Dysphagia, High... |
ORPHA:2590 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Disinhibition, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Disinhibition, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:616437 |
| Endosteal Hyperostosis, Worth Type |
|
Abnormal rib morphology, Clavicular sclerosis |
ORPHA:2790 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
| Bor Syndrome |
|
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, Enlarged cochlea... |
ORPHA:107 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Gliosis |
OMIM:612936 |
| Pelizaeus-Merzbacher Disease |
|
Respiratory insufficiency, Optic atrophy, Choreoathetosis, Abnormality of visual evoked potential... |
ORPHA:702 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Moderately reduced visual acuity, Iris coloboma, Chorioretinal coloboma, Severely reduced visual ... |
ORPHA:2921 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia |
OMIM:201400 |
| Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Narrow chest, Abnormal clavicle morphology, Abnormal r... |
ORPHA:474 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Blurred vision, Attenuation of retinal blood vessels, Color vision defect, Macular coloboma, Peri... |
ORPHA:364055 |
| Benign Schwannoma |
|
Hearing abnormality, Facial palsy, Scleral schwannoma, Vertigo, Schwannoma, Abnormality of the tw... |
ORPHA:252164 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Truncal obesity, Hypercholesterolemia |
ORPHA:181393 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... |
OMIM:615962 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Gliosis |
OMIM:603896 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Cerebral cortical atrophy, Gliosis |
ORPHA:157941 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... |
OMIM:602433 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder |
OMIM:263570 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:614498 |
| Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration, Short stature |
ORPHA:2204 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Amyotrophic lateral ... |
OMIM:606070 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Disproportionate short-limb short stature, Abnormality of neur... |
ORPHA:2772 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal response to human chorionic gonadotrophin stimulation test, Decreased circulating dehydr... |
ORPHA:95699 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
| Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
| Desmosterolosis |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... |
ORPHA:35107 |
| Leigh Syndrome |
|
Hepatocellular necrosis, Gliosis |
OMIM:256000 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Gliosis |
OMIM:300957 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal... |
ORPHA:231580 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Abnormal cranial nerv... |
ORPHA:990 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Protrud... |
ORPHA:899 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
| Mosaic Trisomy 14 |
|
Abnormal rib morphology, Narrow chest, Failure to thrive |
ORPHA:1703 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Astrocytosis |
ORPHA:100070 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression |
ORPHA:52430 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Ptosis, Decreased nerve conduction velocity, Visual impairment, Abnormality of visual evo... |
ORPHA:1933 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... |
ORPHA:247768 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Abnormality of neuronal migration, Short stature, Hydrocephalus, Holoprosencephaly... |
ORPHA:93274 |
| Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Microtia, Agyria, Hydrocephalus,... |
OMIM:614643 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... |
ORPHA:320 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, A... |
ORPHA:369929 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
| Apert Syndrome |
|
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... |
ORPHA:87 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Fasting hypoglycemia, Imp... |
ORPHA:769 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Corpus callosum atrophy, Gliosis |
OMIM:169500 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Orbital encephalocele |
OMIM:164180 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
| Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis |
ORPHA:683 |
| Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormality of neuronal migr... |
ORPHA:44 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98754 |
| Hypophosphatasia |
|
Narrow chest, Failure to thrive in infancy, Hypercalcemia, Abnormal rib morphology |
ORPHA:436 |
| Grant Syndrome |
|
Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of the glenoid fossa |
ORPHA:2097 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral cortical atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:617672 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Abnormal lower motor neuron morphology, Impulsivity, Tremor, Oromandibular dystoni... |
OMIM:614298 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Neuronal loss in central nervous system, Central nervous system degeneration, Gliosis, Cerebral a... |
OMIM:602613 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal rib morphology, Short thorax, Posterior rib fusion, Missing ribs |
ORPHA:1797 |
| Chiari Malformation Type Ii |
|
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen... |
OMIM:207950 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
| Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Degeneration of anterior horn cells, Neurogenic bladder, Substantia nig... |
ORPHA:276244 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebral visual impairment, Optic atrophy, Laryngotracheomalacia, Dystonia, Myopia, Hypermetropia... |
OMIM:616875 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Neurodegeneration |
OMIM:612319 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia, Short stature |
OMIM:618273 |
| Neurofibromatosis, Type Ii |
|
Bilateral vestibular schwannoma, Occasional neurofibromas, Vertigo, Unilateral vestibular schwann... |
OMIM:101000 |
| Edinburgh Malformation Syndrome |
|
Low-set ears, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
| Optic Atrophy 11 |
|
Hyperactivity, Macrotia, Optic atrophy, Optic nerve hypoplasia, Facial diplegia, Decreased sensor... |
OMIM:617302 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis |
OMIM:607485 |
| Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc... |
ORPHA:508 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pachygyria, Astrocytosis, Lissencephaly |
ORPHA:258 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nerv... |
ORPHA:35069 |
| Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus, Disproportionate short-limb short stature, Intrauterine g... |
ORPHA:2655 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98793 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Cerebral cortical atrophy, Gliosis |
OMIM:277470 |
| Galloway-Mowat Syndrome |
|
Macrotia, Aqueductal stenosis, Abnormality of neuronal migration, Short stature, Hypoplasia of th... |
ORPHA:2065 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177904 |
| Primary Lateral Sclerosis |
|
Cervical spinal cord atrophy, Abnormal lower motor neuron morphology, Atrophy of the spinal cord,... |
ORPHA:35689 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
ORPHA:95433 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of |
