Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Postlingual sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve... |
OMIM:601369 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:616030 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Self-injurious behavior, Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Elevated circulat... |
OMIM:229070 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... |
ORPHA:71529 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda... |
OMIM:615411 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Lissencephaly, X-Linked, 1 |
|
Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of cor... |
OMIM:300067 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level |
OMIM:202150 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h... |
ORPHA:453533 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... |
OMIM:604213 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:616950 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Glucocorticoid Deficiency 5 |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
Mismatch Repair Cancer Syndrome 4 |
|
Glioblastoma multiforme, Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum |
OMIM:619101 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:607432 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resista... |
ORPHA:79085 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Cranial nerve compression, Vertigo, Abnormality of the v... |
ORPHA:268882 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypogly... |
ORPHA:276575 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:108420 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadotropic hypogonadism, ... |
OMIM:619761 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis |
OMIM:300857 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Lissencephaly 3 |
|
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... |
OMIM:611603 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,... |
OMIM:105550 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435651 |
Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Cherubism |
|
Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, L... |
OMIM:118400 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Hemimegalencephaly |
|
Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... |
OMIM:615238 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Global brain atrophy |
OMIM:236792 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435660 |
Huntington Disease |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis |
OMIM:143100 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:232700 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, Simplified gyral pattern |
OMIM:618328 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Developmental And Epileptic Encephalopathy 14 |
|
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy |
OMIM:614959 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Optic Atrophy 5 |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... |
OMIM:610708 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Axonal degeneration, Gliosis |
OMIM:604484 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Obesity |
OMIM:614962 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... |
ORPHA:363400 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy |
OMIM:604218 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Hyperactivity, Optic atrophy, Aggressive behavior |
OMIM:300983 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... |
ORPHA:3085 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... |
ORPHA:791 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Hyperactivity, Optic atrophy, Aggressive behavior |
OMIM:619470 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype... |
ORPHA:2849 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Corpus callosum atrophy, Neuronal loss in central nervous system, Gliosis, Global brain atrophy |
OMIM:221820 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... |
OMIM:615830 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... |
ORPHA:79319 |
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 |
|
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Facial diplegia, ... |
OMIM:611890 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... |
ORPHA:263455 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... |
ORPHA:528 |
Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Gliosis, Simplified gyral pattern, Cerebral atrophy |
OMIM:615095 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:3268 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly |
ORPHA:352682 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe fail... |
OMIM:246200 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Dysphagia |
OMIM:611637 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Gliosis... |
ORPHA:275872 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Pse... |
OMIM:606353 |
Superficial Siderosis |
|
Abnormality of the brachial nerve plexus, Vertigo, Bilateral sensorineural hearing impairment, Ab... |
ORPHA:247245 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of neuronal migration |
ORPHA:1980 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Caudate atrophy, Gliosis, Cerebral atrophy |
OMIM:221770 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Pachygyria, Gliosis, Abnormal astrocyte morphology |
ORPHA:168486 |
Maternal Hyperthermia-Induced Birth Defects |
|
Intrauterine growth retardation, Short stature, Abnormality of neuronal migration |
ORPHA:2216 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy |
OMIM:274270 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Constriction of peripheral visual field, Ataxia, Bilateral p... |
ORPHA:1215 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervou... |
OMIM:256600 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ... |
OMIM:615633 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... |
OMIM:615191 |
Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Astrocytosis |
ORPHA:204 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Cerebral visual impairment, Tremor, Vi... |
ORPHA:52368 |
Autosomal Recessive Primary Microcephaly |
|
Short stature, Growth delay, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Gliosis, Cerebral cortical atrophy |
OMIM:618369 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ... |
OMIM:616648 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neuronal loss in central nervous system, Gliosis |
OMIM:607136 |
Distal Deletion 10Q |
|
Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, Protrudi... |
ORPHA:96148 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Elevated circulating follicle stimulating hormon... |
OMIM:620103 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Tremor, Nyctalopia, Dysmetria, Dysdiadochokinesis, D... |
ORPHA:96 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Dysphagia |
ORPHA:247604 |
Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis |
OMIM:225753 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gliosis, Cerebellar vermis atrophy |
OMIM:213200 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy... |
OMIM:608594 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Narrow chest |
ORPHA:1801 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepa... |
OMIM:602579 |
Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Astrocytosis |
ORPHA:225154 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Amblyopia, Reduced visual acuity, Depigm... |
ORPHA:352731 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... |
ORPHA:189427 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida |
ORPHA:945 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Macrotia, Partial agenesis of the corpus callosum, Simpl... |
OMIM:616212 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... |
ORPHA:90790 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment |
ORPHA:369939 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebellar gliosis, Cerebral atrophy, Gliosis, Basal ganglia gliosis, Polymicrogyria |
ORPHA:79243 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified g... |
OMIM:616171 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis |
OMIM:611087 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma |
OMIM:162260 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Gliosis, Brain atrophy |
OMIM:214150 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los... |
OMIM:604377 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... |
OMIM:203800 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Reduced visual acuity, Lim... |
ORPHA:508093 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion... |
ORPHA:90791 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Low-set ears, Int... |
ORPHA:89844 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Short ribs, Slender build, Horizontal ribs |
OMIM:187760 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Atrophy/Degeneration aff... |
OMIM:614946 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
Lissencephaly, X-Linked, 2 |
|
Pachygyria, Lissencephaly, Gliosis |
OMIM:300215 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Optic atrophy, Reduced visual acuity, Impaired propriocepti... |
OMIM:229300 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten... |
ORPHA:141 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hypoglycemic seiz... |
ORPHA:71212 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Amblyopia, Long eyelashes, Abnormality of... |
OMIM:617523 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle... |
OMIM:613327 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration, Gliosis |
OMIM:616239 |
Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis |
ORPHA:282166 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Aggressive behavior, Abnormal hypothalamus morphology, Emotional labili... |
OMIM:614963 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... |
OMIM:615962 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Inguinal hernia, Congenital adrenal hyperplasia, Increased serum testosterone l... |
ORPHA:96181 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Myopia, Epicanthus, Optic atrophy, Respiratory insufficiency, Abnormality of visual evoked potent... |
ORPHA:2971 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Chorioretinal dystrophy, Retinal dystrophy, Hyp... |
OMIM:215470 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo... |
OMIM:601152 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Abnormal lower motor neuron morphology, Tremor, ... |
ORPHA:2590 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration, Hearing impairment |
ORPHA:65 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:616437 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal rib morphology, Narrow chest |
ORPHA:1354 |
Brain Small Vessel Disease 2 |
|
Growth delay, Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal rib morphology |
ORPHA:2790 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Gliosis |
OMIM:612936 |
Full Schwannomatosis |
|
Bilateral vestibular schwannoma, Schwannoma, Peripheral schwannoma, Tinnitus, Hearing impairment |
ORPHA:93921 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Gliosis, Cerebral cortical atrophy |
ORPHA:157941 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Gliosis |
OMIM:603896 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia |
OMIM:201400 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Respiratory insufficiency, Choreoathetosis, Dystonia, Abnormality of visua... |
ORPHA:702 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Moderately reduced visual acuity, Retinal coloboma, Chorioretinal coloboma, Severely reduced visu... |
ORPHA:2921 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:614498 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
Benign Schwannoma |
|
Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Peripheral schwannoma, Abnormality of the... |
ORPHA:252164 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Short stature, Abnormality of neuronal migration |
ORPHA:2204 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Gliosis, Abnormality of neuronal migration |
OMIM:300957 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder |
OMIM:263570 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Abno... |
ORPHA:251061 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Astrocytosis |
ORPHA:100070 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Severe short stature, Abnormal cortical gyration, Pachygyria, ... |
ORPHA:35107 |
Leigh Syndrome |
|
Gliosis, Hepatocellular necrosis |
OMIM:256000 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Disproportionate short-limb short stature, Abnormality of neur... |
ORPHA:2772 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Dysphagia |
OMIM:607225 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Abnormal cranial nerv... |
ORPHA:990 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Short stature, Abnormality of neuronal migration |
OMIM:608840 |
Mosaic Trisomy 14 |
|
Failure to thrive, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology |
ORPHA:52430 |
Walker-Warburg Syndrome |
|
Posteriorly rotated ears, Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of n... |
ORPHA:899 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Subcortical heterotopia, Agyria, Hydrocephalus, Partial agenesis of the corpus cal... |
OMIM:614643 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Visual impa... |
ORPHA:1933 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly... |
ORPHA:93274 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia, Optic atrophy... |
OMIM:617302 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... |
ORPHA:247768 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy |
ORPHA:683 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Apert Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Chiari m... |
ORPHA:87 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Corpus callosum atrophy, Gliosis |
OMIM:169500 |
Lamb-Shaffer Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Optic atrophy, Abnormal temper tantrums |
ORPHA:530983 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:617672 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum |
OMIM:164180 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... |
ORPHA:769 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocep... |
OMIM:615219 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Impulsivity, Tr... |
OMIM:614298 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Short stature, Abnormality o... |
ORPHA:44 |
Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Substantia ... |
ORPHA:276244 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Hypophosphatasia |
|
Hypercalcemia, Abnormal rib morphology, Failure to thrive in infancy, Narrow chest |
ORPHA:436 |
Grant Syndrome |
|
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest |
ORPHA:2097 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Short stature, Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs |
ORPHA:1797 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Myopia, Cerebral visual impairment, Optic atrophy, Hypermetropia, Dystonia, Abnormality of visual... |
OMIM:616875 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Agen... |
OMIM:207950 |
Galloway-Mowat Syndrome |
|
Short stature, Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration, Hypoplasia of ... |
ORPHA:2065 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy |
OMIM:607485 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
Schwannomatosis, Vestibular |
|
Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas, Unilat... |
OMIM:101000 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration, Low-set ears |
ORPHA:1895 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pachygyria, Lissencephaly, Astrocytosis |
ORPHA:258 |
Pontocerebellar Hypoplasia, Type 2A |
|
Gliosis, Cerebral cortical atrophy |
OMIM:277470 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... |
ORPHA:508 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gliosis |
ORPHA:457240 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Myopia, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve cond... |
OMIM:601455 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98754 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Abnormal upper mot... |
ORPHA:35689 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short stature, Low-set ears, ... |
ORPHA:2655 |
Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Hyperactivity, Impulsivity, Optic atrophy, Diffuse axonal swelling,... |
ORPHA:35069 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly |
OMIM:184400 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal coloboma... |
OMIM:615113 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Atrophy/Degeneration affecting the brainst... |
OMIM:617193 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Generalized dystonia, Dyst... |
OMIM:205100 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98793 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... |
OMIM:605814 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177904 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs |
OMIM:173800 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177901 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole... |
OMIM:616222 |
Rett Syndrome |
|
Failure to thrive, Cholecystitis, Increased serum leptin |
ORPHA:778 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Narrow chest |
ORPHA:93267 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs |
OMIM:122600 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Flaring of lower rib cage, Cupped ribs, Defor... |
ORPHA:168549 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Posteriorly rotated ears, Abnormal cortical gyration, Pachygyria, Abnormality of n... |
ORPHA:2211 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Neonatal hypoproteinemia |
OMIM:152800 |
Metatropic Dysplasia |
|
Long thorax, Abnormal rib morphology, Narrow chest |
ORPHA:2635 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Obesity |
ORPHA:254531 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Gliosis |
OMIM:109150 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment |
OMIM:617516 |
Achondrogenesis Type 1B |
|
Short thorax, Abnormal rib morphology, Narrow chest |
ORPHA:93298 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Gliosis, Macrogyria |
ORPHA:280210 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Gliosis, Cerebral atrophy |
OMIM:619847 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Neurodegeneration, Gliosis, Cerebral atrophy |
OMIM:618321 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Abnormality of neuronal migration |
ORPHA:3307 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:613954 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Intrauterine growth retardation, Short stature, Abnormality of neuronal migration, Protruding ear |
ORPHA:2518 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Gliosis |
ORPHA:3240 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Pectus carinatum, Beaded ribs |
OMIM:259440 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Sensorineural heari... |
OMIM:617201 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Astrocytosis, Adult onset sensorineural hearing impairment, Co... |
ORPHA:90324 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Renpenning Syndrome |
|
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Cachexia |
ORPHA:3242 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Decreased body weight, Diabetes mellitus, Lipoatrophy, Failure to thrive, Abno... |
ORPHA:79474 |
Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2345 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
16P13.11 Microdeletion Syndrome |
|
Short stature, Sensorineural hearing impairment, Abnormality of neuronal migration, Atresia of th... |
ORPHA:261236 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Macrotia |
OMIM:619694 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Agenesis of corp... |
ORPHA:370959 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Ab... |
ORPHA:79139 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Pachygyria, Gliosis |
OMIM:231680 |
Supranuclear Palsy, Progressive, 1 |
|
Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Senile plaques, Neuronal l... |
OMIM:601104 |
Becker Nevus Syndrome |
|
Pectus excavatum, Rib fusion, Supernumerary ribs, Pectus carinatum |
ORPHA:64755 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormal rib morphology, Obesity |
ORPHA:2234 |
Parkinson Disease 1, Autosomal Dominant |
|
Gliosis, Global brain atrophy |
OMIM:168601 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Gliosis, Corpus callosum atrophy, Cerebral cortical atrophy |
OMIM:248500 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Hepatic periportal necrosis, Gliosis |
ORPHA:26791 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs |
OMIM:122860 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Short clavicles |
ORPHA:401923 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:611812 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy |
OMIM:617830 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Gait ataxia, Progressi... |
ORPHA:309256 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Abnormal autonomic nervous system physiology, Decreased number of small peripheral... |
OMIM:256800 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Posteriorly rotated ears, Periventricular heterotopia, Hydrocephalus, Colpocephaly... |
OMIM:619833 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Bell-shaped thorax, Elevated circ... |
OMIM:614857 |
Joubert Syndrome 5 |
|
Central apnea, Ataxia, Episodic tachypnea, Reduced visual acuity, Retinal coloboma, Congenital bl... |
OMIM:610188 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Rib fusion |
OMIM:609813 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Intrauterine growth retardation, Pachygyria, Agenesis of corpus callosum, Periventricular heterot... |
ORPHA:255138 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, Aqueductal stenosis, Externa... |
ORPHA:138 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Neurodegeneration |
OMIM:245200 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Beaded ribs, Thin ribs, Bell-shaped thorax, Thoracic hypoplasia |
OMIM:166210 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Progressive gait ataxi... |
ORPHA:309263 |
Laron Syndrome |
|
Truncal obesity, Hypercholesterolemia |
ORPHA:633 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:2522 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Gorham-Stout Disease |
|
Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
White Forelock With Malformations |
|
Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Familial Acute Necrotizing Encephalopathy |
|
Gliosis |
ORPHA:88619 |
3C Syndrome |
|
Short stature, Postnatal growth retardation, Hydrocephalus, Abnormality of neuronal migration, Lo... |
ORPHA:7 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short stature, Neonatal death... |
OMIM:187600 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Obesity, Hyperuricemia |
ORPHA:77296 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Low-set ears, Polymicrogyria |
ORPHA:475 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Abnormal rib morphology, Obesity |
ORPHA:2180 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Short thorax, Narrow chest |
ORPHA:93299 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Cachexia |
ORPHA:93941 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Low-set ears, Periventricular heterotopia |
OMIM:618974 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Optic atrophy,... |
ORPHA:79330 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs |
OMIM:617895 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Abnormal rib morphology, Bell-shaped thorax, Short ribs, Narrow chest, Broa... |
ORPHA:2021 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali... |
ORPHA:79431 |
Cog4-Cdg |
|
Hypercholesterolemia, Failure to thrive in infancy |
ORPHA:263501 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:615157 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ... |
ORPHA:392 |
Kleefstra Syndrome Due To A Point Mutation |
|
Gliosis |
ORPHA:261652 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Spina bifida, Pachygyria, Macrotia, Abnormality of neuronal migration... |
ORPHA:2671 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Paucity of anterior horn motor neurons |
OMIM:253310 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dy... |
OMIM:209900 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Truncal obesity, Small for gestational age, Obesity, Hypercholesterolemia |
ORPHA:96184 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Neurodegeneration, Cerebral atrophy |
ORPHA:391428 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Astrocytosis |
ORPHA:309854 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Oligodendroglioma, Ependymoma, Gray matter heterotopia, Age... |
OMIM:276300 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Microtia, Cleft earlobe, Polymi... |
OMIM:619775 |
Femoral-Facial Syndrome |
|
Rib fusion, Abnormal rib morphology, Sprengel anomaly |
ORPHA:1988 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Polymicrogyria, Corpus callosum atrophy, Gliosis |
OMIM:261515 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Thin ribs, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:93324 |
Vici Syndrome |
|
Gray matter heterotopia, Sensorineural hearing impairment, Agenesis of corpus callosum, Short sta... |
ORPHA:1493 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Van Maldergem Syndrome 1 |
|
Sensorineural hearing impairment, Subcortical band heterotopia, Simplified gyral pattern, Growth ... |
OMIM:601390 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Gliosis, Astrocytosis |
OMIM:203700 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Gliosis, Cerebral atrophy |
OMIM:252160 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Short thorax, Bell-shaped thorax, Narrow ... |
OMIM:200600 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Small for gestational age, Thoracic hypoplasia, Large for gestational age |
ORPHA:254534 |
Metatropic Dysplasia |
|
Clavicular pseudarthrosis, Cupped ribs, Short ribs, Narrow chest, Flaring of rib cage |
OMIM:156530 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Thin ribs, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Fragile X Syndrome |
|
Macrotia, Periventricular heterotopia |
OMIM:300624 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Gliosis, Global brain atrophy |
ORPHA:845 |
Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Hydrocephalus, Encephalocele, Abnormality of neuronal migration |
ORPHA:2318 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:93351 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, Short ribs, Mildly elevated creatine kinase |
ORPHA:1145 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:881 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Reduced visual acuity, Progressive ga... |
ORPHA:309271 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ... |
ORPHA:157 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Leigh Syndrome |
|
Cerebellar atrophy, Gliosis |
ORPHA:506 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology |
ORPHA:2145 |
Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Periventricular heterotopia, Aqueductal stenosis, Hydrocephalus, Partia... |
OMIM:619895 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Tremor, Optic atrophy, Abnormality of vision, Downslanted palpebral fissures, Retinal deg... |
ORPHA:442835 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
ORPHA:412 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:2759 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Large earlobe, Low-set ears, Conductive hearing impairment, Agenesis of ... |
OMIM:619312 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy |
ORPHA:478029 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Thin ribs |
OMIM:615368 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration |
ORPHA:2481 |
Hereditary Late-Onset Parkinson Disease |
|
Gliosis, Cerebral cortical atrophy |
ORPHA:411602 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus, Lethal short-limbed short stature, Hearing impairment |
ORPHA:1860 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Gray matter heterotopia |
ORPHA:531151 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Galloway-Mowat Syndrome 7 |
|
Pectus excavatum, Hypercholesterolemia |
OMIM:618348 |
Supranuclear Palsy, Progressive, 2 |
|
Neuronal loss in central nervous system, Gliosis, Granulovacuolar degeneration |
OMIM:609454 |
Alkuraya-Kucinskas Syndrome |
|
Posteriorly rotated ears, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Low-set ears |
OMIM:617822 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:628 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... |
ORPHA:273 |
Hermansky-Pudlak Syndrome |
|
Myopia, Epistaxis, Amblyopia, Dyspnea, Ocular albinism, Photophobia, Abnormal optic nerve morphol... |
ORPHA:79430 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis, Cerebral atrophy |
OMIM:252150 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Mixed hearing impairment, Gray matter heterotopia, Low-set ears, Thickened helices, Overfolded helix |
OMIM:608624 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:615491 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:3082 |
Prune Belly Syndrome |
|
Pectus excavatum, Failure to thrive, Abnormal rib morphology |
ORPHA:2970 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi... |
OMIM:619991 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Small for gestational age, Beaded ribs, Short ribs, Thoracic hypoplasia |
OMIM:616897 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity |
ORPHA:819 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Rib fusion, Short thorax, Abnormal rib morphology |
ORPHA:2311 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617397 |
Cooper-Jabs Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1488 |
Three M Syndrome 2 |
|
Scapular winging, Small for gestational age, Short thorax, Thin ribs, Pectus carinatum |
OMIM:612921 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Optic atrophy, Impulsivity, Dysphagia |
OMIM:610217 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Gliosis, Cerebral cortical atrophy |
OMIM:301072 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology |
ORPHA:1836 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thin clavicles, Thin ribs, Short ribs... |
OMIM:228520 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Posteriorly rotated ears, Abnormality of neuronal migration, Low-set ears, Overfolded helix, Poly... |
OMIM:608836 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology |
ORPHA:1486 |
Gm2 Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Posteriorly rotated ears, Abnormality of neuronal migration |
ORPHA:2063 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Patent ductus arteriosus, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atr... |
OMIM:300868 |
Man1B1-Cdg |
|
Macrotia, Low-set ears, Periventricular heterotopia |
ORPHA:397941 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ... |
ORPHA:228308 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Posteriorly rotated ears, Periventricular heterotopia, Low-set ears, Thickened helices, Agenesis ... |
OMIM:618929 |
Van Maldergem Syndrome 2 |
|
Sensorineural hearing impairment, Subcortical band heterotopia, Growth delay, Gray matter heterot... |
OMIM:615546 |
Osteogenesis Imperfecta, Type Xv |
|
Thin ribs |
OMIM:615220 |
Cerebrofacioarticular Syndrome |
|
Short stature, Dysplastic corpus callosum, Gray matter heterotopia, Microtia, Conductive hearing ... |
ORPHA:314679 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Periventricular heterotopia |
OMIM:614105 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Short stature, Gray matter heterotopia, Neonatal death, Pachygyria, Heari... |
OMIM:620024 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Decreased body weight |
OMIM:614833 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Papillorenal Syndrome |
|
Gliosis |
OMIM:120330 |
Noonan Syndrome |
|
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Abnormal rib morphology |
OMIM:118100 |
Bohring-Opitz Syndrome |
|
Short stature, Posteriorly rotated ears, Mesomelic/rhizomelic limb shortening, Gray matter hetero... |
OMIM:605039 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Severe short stature, Periventricular heterotopia, Pachygyria,... |
ORPHA:468631 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Abnormal neuron morphology |
ORPHA:163681 |
Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Small for gestational age, Narrow chest, Beaded ribs |
OMIM:616229 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Decreased body weight |
OMIM:618265 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Neonatal death, Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Melnick-Needles Syndrome |
|
Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles |
ORPHA:2484 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax |
OMIM:613686 |
Trisomy 13 |
|
Abnormal rib morphology, Narrow chest |
ORPHA:3378 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Rib fusion |
OMIM:277300 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Thin ribs |
OMIM:300863 |
Legius Syndrome |
|
Hyperactivity, Neurofibroma, Vestibular schwannoma, Attention deficit hyperactivity disorder, Hea... |
ORPHA:137605 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Axonal degeneration, Gliosis, Global brain atrophy |
ORPHA:909 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal rib morphology, Pectus carinatum |
ORPHA:3068 |
Miller-Dieker Lissencephaly Syndrome |
|
Posteriorly rotated ears, Gray matter heterotopia, Lissencephaly, Low-set ears, Intrauterine grow... |
OMIM:247200 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Elevated circulating C-reactive protein concentration, Failure to thrive in infancy, ... |
OMIM:612852 |
Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:273395 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs, Mildly elevated creatine kinase, Large for gestational age |
ORPHA:169189 |
Coffin-Lowry Syndrome |
|
Sensorineural hearing impairment, Short stature, Abnormality of neuronal migration, Protruding ear |
ORPHA:192 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Gliosis, Cerebral atrophy |
ORPHA:404454 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Gliosis |
OMIM:618222 |
3M Syndrome |
|
Scapular winging, Short thorax, Thin ribs, Enlarged thorax, Horizontal ribs |
ORPHA:2616 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Resting tremor |
OMIM:601162 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Short ribs, Narrow chest, Thoracolumbar kyphosis, Thoracic hypoplasia |
OMIM:151210 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration, Low-set ears |
ORPHA:1454 |
Juberg-Hayward Syndrome |
|
Abnormal rib morphology |
ORPHA:2319 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Thin ribs |
OMIM:602361 |
Opitz-Kaveggia Syndrome |
|
Short stature, Sensorineural hearing impairment, Hydrocephalus, Partial agenesis of the corpus ca... |
OMIM:305450 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Protruding ear, Gray matter heterotopia, Agenesis of corpus callosum,... |
OMIM:618820 |
Mucolipidosis Iii Alpha/Beta |
|
Broad ribs, Increased serum beta-hexosaminidase, Short ribs |
OMIM:252600 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Short ribs, Horizontal ribs |
OMIM:200610 |
Full Nf2-Related Schwannomatosis |
|
Facial palsy, Bilateral vestibular schwannoma, Sensorineural hearing impairment, Peripheral schwa... |
ORPHA:637 |
Aicardi Syndrome |
|
Spina bifida, Postnatal growth retardation, Partial agenesis of the corpus callosum, Gray matter ... |
OMIM:304050 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Periventricular heterotopia |
OMIM:618476 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Low-set ears |
OMIM:617563 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Low-set ears |
OMIM:618797 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Periventricular heterotopia, Sensorineural hearing impairment, Agenesis... |
OMIM:618733 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Obesity |
ORPHA:69663 |
Cerebral Visual Impairment |
|
Central nervous system degeneration, Neurodegeneration |
ORPHA:447788 |
Cockayne Syndrome |
|
Cerebellar atrophy, Neurogenic bladder, Gliosis, Cerebral atrophy |
ORPHA:191 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Short stature, Abnormality of neuronal migration, Growth delay... |
ORPHA:2754 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... |
ORPHA:264580 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Thin ribs, Narrow chest, Broad ribs, Thoracic hypoplasia |
OMIM:613848 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Hydrocephalus, Disproportionate short stature, Partial agenesis of th... |
OMIM:210710 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Elevated circulating creatine ... |
ORPHA:79240 |
Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Adrenoleukodystrophy |
|
Neurodegeneration |
OMIM:300100 |
Alg11-Cdg |
|
Gray matter heterotopia, Hearing impairment |
ORPHA:280071 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1834 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs |
ORPHA:456328 |
6Q Terminal Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Periventricular heterotopia, Abnormality of neuronal migration... |
ORPHA:75857 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Protruding ear, Colpocephaly, Chronic otitis media, Hearing impairment |
ORPHA:261250 |
Trisomy 1Q |
|
Short thorax, Abnormal rib morphology |
ORPHA:261344 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondrocostal junctions, Short ribs |
OMIM:250420 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Prominent sternum, Thoracic kyphosis, Anterior rib cupping, Thin ribs |
OMIM:300232 |
Hydrolethalus Syndrome 1 |
|
Abnormal pinna morphology, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stil... |
OMIM:236680 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Abnormal rib morphology, Narrow chest, Short clavicles |
ORPHA:1452 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Abnormal circulating creatine kinase concentration, Abnormal rib morphology |
ORPHA:2215 |
Orofaciodigital Syndrome I |
|
Short stature, Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotop... |
OMIM:311200 |
Antley-Bixler Syndrome |
|
Abnormal rib morphology, Narrow chest |
ORPHA:83 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Thin ribs, Pectus carinatum, Sprengel anomaly |
ORPHA:958 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Gliosis, Cerebral atrophy |
OMIM:124000 |
Koolen-De Vries Syndrome |
|
Short stature, Anteverted ears, Gray matter heterotopia, Intrauterine growth retardation, Overfol... |
OMIM:610443 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Short stature, Periventricular heterotopia |
OMIM:618870 |
Greenberg Dysplasia |
|
Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ... |
OMIM:215140 |
Mucopolysaccharidosis Type 4 |
|
Short thorax, Abnormal rib morphology, Pectus carinatum |
ORPHA:582 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Gray matter heterotopia, Abnormal hel... |
OMIM:214100 |
Dysosteosclerosis |
|
Sclerotic scapulae, Short sternum, Short ribs, Narrow chest, Broad ribs, Clavicular sclerosis |
OMIM:224300 |
Helsmoortel-Van Der Aa Syndrome |
|
Gliosis |
OMIM:615873 |
Congenital Disorder Of Deglycosylation 1 |
|
Gliosis |
OMIM:615273 |
Mucopolysaccharidosis, Type X |
|
Broad ribs, Spatulate ribs, Broad clavicles |
OMIM:619698 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs |
ORPHA:1394 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity, Thin ribs |
OMIM:618395 |
Aspergillosis |
|
Abnormal rib morphology |
ORPHA:1163 |
Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Long clavicles, Thin ribs |
OMIM:608149 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs |
OMIM:609616 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration |
OMIM:606159 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gliosis, Cerebral cortical atrophy |
ORPHA:268261 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration, Holoprosencephaly, Atresia of the external auditory canal, Abn... |
ORPHA:3186 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Severe Congenital Nemaline Myopathy |
|
Abnormal thorax morphology, Thin ribs |
ORPHA:171430 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Posterior rib gap, Thoracic scoliosis, Failure to thrive in infancy, Rib fusion |
OMIM:611209 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Short thorax, Pectus carinatum, ... |
ORPHA:239 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology |
ORPHA:3035 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology |
ORPHA:1120 |
Holoprosencephaly |
|
Encephalocele, External ear malformation, Hydrocephalus, Abnormality of neuronal migration, Spina... |
ORPHA:2162 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Periventricular Nodular Heterotopia 9 |
|
Posteriorly rotated ears, Gray matter heterotopia, Microtia, Squared superior portion of helix, P... |
OMIM:618918 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Campomelia, Cumming Type |
|
Abnormal thorax morphology, Abnormal rib morphology |
ORPHA:1318 |
Hyperparathyroidism, Transient Neonatal |
|
Undulate ribs, Thin ribs, Short ribs, Narrow chest, Fractured rib |
OMIM:618188 |
Phaver Syndrome |
|
Abnormal rib morphology |
ORPHA:2876 |
Bilateral Perisylvian Polymicrogyria |
|
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... |
ORPHA:98889 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody... |
ORPHA:79318 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615919 |
Cartilage-Hair Hypoplasia |
|
Flaring of lower rib cage, Short thorax, Abnormal rib morphology, Pectus carinatum, Narrow chest,... |
ORPHA:175 |
Cenani-Lenz Syndrome |
|
Abnormal rib morphology |
ORPHA:3258 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus c... |
OMIM:603671 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Charge Syndrome |
|
Mixed hearing impairment, Facial palsy, Lop ear, Aplasia of the semicircular canal, Sensorineural... |
OMIM:214800 |
Xylt1-Cdg |
|
Truncal obesity, Broad ribs, Short clavicles |
ORPHA:370930 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cupped ribs |
OMIM:608940 |
Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Thin ribs |
OMIM:616294 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... |
ORPHA:90041 |
Nijmegen Breakage Syndrome |
|
Short stature, Glioma, Hearing abnormality, Abnormality of neuronal migration, Macrotia |
ORPHA:647 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Conjugated hyperbilirubinemia, Thoracic dysplasia, Short ribs, Narrow ches... |
OMIM:208500 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal rib morphology, Hyperuricemia, Aplastic clavicle, Missing ribs |
ORPHA:2769 |
Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Small for gestational age, Lateral clavicle hook, Flat glenoid fossa... |
OMIM:224690 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs |
OMIM:252920 |
Ellis-Van Creveld Syndrome |
|
Short ribs, Narrow chest, Horizontal ribs, Pectus carinatum |
OMIM:225500 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea... |
ORPHA:275761 |
Vici Syndrome |
|
Postnatal growth retardation, Sensorineural hearing impairment, Gray matter heterotopia, Low-set ... |
OMIM:242840 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyper... |
ORPHA:90674 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Narrow chest, Thin ribs |
ORPHA:73230 |
Alagille Syndrome |
|
Failure to thrive, Abnormal rib morphology |
ORPHA:52 |
Pagod Syndrome |
|
Encephalocele, Short stature, Spina bifida, Meningocele, Abnormality of neuronal migration |
ORPHA:991 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het... |
OMIM:615287 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs |
OMIM:252900 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Neurodegeneration, Cerebral atrophy |
OMIM:616878 |
Holzgreve Syndrome |
|
Abnormal rib morphology |
ORPHA:2167 |
Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs |
OMIM:300219 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Short ribs, Missing ribs, Thin ribs |
OMIM:271520 |
Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration |
OMIM:309900 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs |
ORPHA:163966 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Pectus excavatum, Prominent sternum, Thoracic hypoplasia, Coat hanger sign of ribs |
ORPHA:254528 |
Mucopolysaccharidosis Type 6 |
|
Broad ribs, Failure to thrive |
ORPHA:583 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Birth length less than 3rd percentile, Intrauterine growth retardation, Abnormality of neuronal m... |
ORPHA:464311 |
Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs |
OMIM:312150 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal... |
OMIM:263520 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Rib fusion, Obesity |
ORPHA:261197 |
Congenital Myopathy 22B, Severe Fetal |
|
Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Pectus excavatum, Thin ribs, ... |
OMIM:620369 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Intrauterine growth retardation, Abnormal helix morphology, Hearing impa... |
ORPHA:453499 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Gliosis |
OMIM:617403 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Abnormal sternum morphology, Supernumerary ribs, Short ribs, Bifid ribs, ... |
OMIM:109400 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Hypercalcemia, Abnormal rib morphology, Increased circulating corti... |
ORPHA:249 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs |
OMIM:259420 |
Mucopolysaccharidosis, Type Iva |
|
Prominent sternum, Flaring of rib cage, Pectus carinatum |
OMIM:253000 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the sternum, Missing ribs, Abnormal rib morphology, Pectus carinatum, Abnor... |
ORPHA:2911 |
Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel... |
ORPHA:649 |
Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Cachexia, Elevated circulating creatine kinase concentration, Pectu... |
ORPHA:800 |
Cole-Carpenter Syndrome |
|
Abnormal rib morphology |
ORPHA:2050 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... |
ORPHA:740 |
Lethal Congenital Contracture Syndrome 10 |
|
Broad ribs, Thoracic scoliosis, Narrow chest |
OMIM:617022 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Nonketotic hyperglycinemia |
ORPHA:1300 |
Pontine Tegmental Cap Dysplasia |
|
Failure to thrive, Rib fusion |
OMIM:614688 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Short thorax, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs |
OMIM:269860 |
Hurler Syndrome |
|
Neurodegeneration |
OMIM:607014 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Br... |
OMIM:304150 |
Mucopolysaccharidosis, Type Vii |
|
Neurodegeneration |
OMIM:253220 |
Diets-Jongmans Syndrome |
|
Gliosis |
OMIM:618846 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Lateral clavicle hook, Pectus excavatum, Thin ribs, Pectus carinatum, Supernumerary ribs |
OMIM:182212 |
Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs |
OMIM:253290 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs |
OMIM:252930 |
Mosaic Trisomy 8 |
|
Abnormal rib morphology, Narrow chest |
ORPHA:96061 |
Kyphomelic Dysplasia |
|
Lateral clavicle hook, Undulate ribs, Anterior rib cupping, Thoracic hypoplasia |
OMIM:211350 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Short ribs, Horizontal ribs, Thoracic hypoplasia |
OMIM:613091 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Pectus excavatum, Abnormal sternum morphology, Failure to thrive, Rib fusion |
ORPHA:2990 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Posterior rib ... |
OMIM:117650 |
Van Den Ende-Gupta Syndrome |
|
Hypoplastic scapulae, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus excavatum, Thin rib... |
OMIM:600920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Gliosis, Simplified gyral pattern |
OMIM:220111 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs |
OMIM:617952 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Obesity |
OMIM:619471 |
Sclerosteosis 1 |
|
Broad ribs, Sclerotic scapulae, Broad clavicles |
OMIM:269500 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Pectus excavatum, Thin ribs |
ORPHA:2463 |
Gabriele-De Vries Syndrome |
|
Gliosis |
ORPHA:506358 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration |
OMIM:300972 |
Vacterl/Vater Association |
|
Abnormal rib morphology |
ORPHA:887 |
Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia, Large for gestational age |
ORPHA:254519 |
Otopalatodigital Syndrome Type 2 |
|
Failure to thrive, Abnormal rib morphology, Narrow chest |
ORPHA:90652 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Sensorineural hearing impairment, Protruding ear, Growth delay, Gray matter heterotopia, Conducti... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Sensorineural hearing impairment, Protruding ear, Growth delay, Gray matter heterotopia, Conducti... |
ORPHA:352665 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Abnormal rib morphology, Hypokalemia, Hyperaldosteronism, Hypophosph... |
ORPHA:534 |
African Trypanosomiasis |
|
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... |
ORPHA:3385 |
Monosomy 9Q22.3 |
|
Pectus excavatum, Abnormal rib morphology, Large for gestational age |
ORPHA:77301 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t... |
ORPHA:79259 |
Fontaine Progeroid Syndrome |
|
Posteriorly rotated ears, Short stature, Periventricular heterotopia, Hydrocephalus, Gray matter ... |
OMIM:612289 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Abnormal rib morphology, Hypertriglyceridemia |
OMIM:118450 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Large for gestational age, Pectus excavatum, Rib fusion, Narrow chest, Bifid ribs, Sprengel anomaly |
OMIM:213980 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Abnormal cochlea morphology, Large e... |
ORPHA:798 |
Hallermann-Streiff Syndrome |
|
Small for gestational age, Pectus excavatum, Thin ribs, Abnormal rib cage morphology, Decreased n... |
OMIM:234100 |
Mucopolysaccharidosis, Type Ivb |
|
Prominent sternum, Flaring of rib cage |
OMIM:253010 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs |
OMIM:616300 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:93473 |
Nijmegen Breakage Syndrome |
|
Neurodegeneration, Glioma |
OMIM:251260 |
Chediak-Higashi Syndrome |
|
Neurodegeneration |
OMIM:214500 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Posteriorly rotated ears, Periventricular heterotopia, Partial agenesis ... |
OMIM:615948 |
Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
Pyknoachondrogenesis |
|
Enlarged thorax, Short thorax, Short ribs, Horizontal ribs |
ORPHA:3003 |
Eiken Syndrome |
|
Broad ribs, Decreased body weight |
OMIM:600002 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs |
ORPHA:85184 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Large for gestational age |
ORPHA:544488 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Lateral clavicle hook, Long thorax, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617925 |
Acrocapitofemoral Dysplasia |
|
Pectus excavatum, Cupped ribs, Pectus carinatum, Short ribs, Narrow chest |
OMIM:607778 |
Cantú Syndrome |
|
Broad ribs, Narrow chest |
ORPHA:1517 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Fatigable weakness of swallowing muscles, Abnormal rib morphology |
ORPHA:581 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Cervical ribs, Thin ribs |
OMIM:601812 |
Trisomy 18 |
|
Abnormal rib morphology, Cachexia |
ORPHA:3380 |
Dextrocardia |
|
Abnormal rib morphology |
ORPHA:1666 |
Smith-Lemli-Opitz Syndrome |
|
Posteriorly rotated ears, Short stature, Periventricular heterotopia, Hydrocephalus, Partial agen... |
OMIM:270400 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Large for gestational age, Pectus exc... |
ORPHA:96334 |
Arima Syndrome |
|
Growth delay, Gray matter heterotopia, Occipital meningocele |
OMIM:243910 |
Craniometadiaphyseal Dysplasia |
|
Broad ribs |
OMIM:269300 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs |
OMIM:230500 |
Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration |
OMIM:146500 |
Radio-Renal Syndrome |
|
Abnormal rib morphology |
ORPHA:3015 |
Aicardi Syndrome |
|
Rib fusion, Supernumerary ribs, Bifid ribs, Missing ribs |
ORPHA:50 |
Osteogenesis Imperfecta |
|
Multiple rib fractures, Small for gestational age, Pectus excavatum, Abnormal rib morphology, Pec... |
ORPHA:666 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs, Hypotriglyceridemia |
ORPHA:85167 |
Osteopathia Striata With Cranial Sclerosis |
|
Pectus excavatum, Straight clavicles, Thoracolumbar kyphosis, Broad ribs, Failure to thrive |
OMIM:300373 |
Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Short ribs, Thin ribs |
OMIM:620076 |
X-Linked Hypophosphatemia |
|
Enlargement of the costochondral junction, Hypophosphatemia, Rachitic rosary, Beaded ribs |
ORPHA:89936 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs |
OMIM:252940 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Missing ribs, Narrow chest, Thin ribs |
OMIM:200980 |
Ear-Patella-Short Stature Syndrome |
|
Failure to thrive, Abnormal rib morphology, Aplastic clavicle |
ORPHA:2554 |
Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Coat hanger sign of ribs |
OMIM:305620 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Cupped ribs, Abnormal rib cage morphology, Flaring of rib cage, Decreased body ... |
OMIM:271640 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Abnormal rib morphology, Narrow chest, Hypophosphatemia |
ORPHA:667 |
Kbg Syndrome |
|
Cervical ribs, Rib fusion, Thoracic kyphosis |
OMIM:148050 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Thin ribs |
OMIM:610915 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Campomelic Dysplasia |
|
11 pairs of ribs, Thoracic scoliosis, Absent sternal ossification, Hypoplastic scapulae, Pectus c... |
OMIM:114290 |
Costello Syndrome |
|
Vestibular schwannoma, Posteriorly rotated ears, Low-set ears |
OMIM:218040 |
Microphthalmia, Syndromic 3 |
|
Rib fusion, Supernumerary ribs, Missing ribs |
OMIM:206900 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Cupped ribs, Horizontal inferior border of scapula, Short ribs, Narrow chest |
OMIM:250220 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the costochondral junction |
ORPHA:79345 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Long clavicles, Rib fusion, Down-sloping shoulders |
OMIM:265000 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Hypoplasia of first ribs, Short sternum, Broad ribs, Failure to thrive |
OMIM:269150 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Pectus excavatum, Thin ribs, Supernumerary ribs |
OMIM:619127 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal rib morphology, Elevated circulating 7-dehydrocholesterol concentration |
ORPHA:818 |
Mucopolysaccharidosis, Type Vi |
|
Broad ribs, Prominent sternum, Pectus carinatum |
OMIM:253200 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurodegeneration |
OMIM:619475 |
Pallister-Hall Syndrome |
|
Decreased circulating cortisol level, Rib fusion |
OMIM:146510 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal rib morphology |
ORPHA:2907 |
Alpha-Mannosidosis, Infantile Form |
|
Pectus excavatum, Thickened ribs, Pectus carinatum |
ORPHA:309282 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Myhre Syndrome |
|
Abnormal rib morphology |
ORPHA:2588 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs |
OMIM:601559 |
Cranioectodermal Dysplasia 2 |
|
Pectus excavatum, Short ribs, Hyperbilirubinemia, Narrow chest, Horizontal ribs |
OMIM:613610 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Cerebral degeneration, Neurodegeneration, Global brain atrophy |
OMIM:234200 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Pectus excavatum, Hypocalcemia, Failure to th... |
ORPHA:2785 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Broad ribs, Failure to thrive, Broad clavicles |
OMIM:151050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad ribs, Obesity |
OMIM:301066 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Rib fusion, Missing ribs |
OMIM:268310 |
Autosomal Recessive Robinow Syndrome |
|
Pectus excavatum, Rib fusion, Pectus carinatum |
ORPHA:1507 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Hypocalcemic seizures |
OMIM:612301 |
Fryns Syndrome |
|
Broad ribs, Thin ribs, Thoracic hypoplasia, Large for gestational age |
OMIM:229850 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Abnormal thorax morphology, Failure to thrive, Rib fusion |
ORPHA:280 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar kyphosis, Thoracic hypoplasia, Horizontal ribs |
OMIM:618019 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypercholesterolemia, Failure to thrive, Small for gestational age, Hypertriglyceridemia |
OMIM:606721 |
Weill-Marchesani Syndrome 1 |
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Broad ribs |
OMIM:277600 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Short ribs, Narrow chest, Horizontal ribs, Short clavicles |
OMIM:617088 |
Simpson-Golabi-Behmel Syndrome |
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Pectus excavatum, Abnormal rib morphology |
ORPHA:373 |
Monosomy 9P |
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Abnormal rib morphology |
ORPHA:261112 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Pectus excavatum, Undulate ribs, Short clavicles |
OMIM:609945 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Abnormal rib morphology |
ORPHA:488434 |
Robinow Syndrome |
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Rib fusion, Small for gestational age, Missing ribs |
ORPHA:97360 |
Zttk Syndrome |
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Cervical ribs, Failure to thrive, Rib fusion |
OMIM:617140 |
Ulbright-Hodes Syndrome |
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Short sternum, Abnormal rib morphology, Short ribs, Thin ribs |
ORPHA:3404 |
Weill-Marchesani Syndrome 2 |
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Broad ribs |
OMIM:608328 |
Myhre Syndrome |
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Broad ribs, Small for gestational age, Obesity |
OMIM:139210 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Rib fusion, Obesity, Bifid ribs, Failure to thrive |
ORPHA:1606 |
Restrictive Dermopathy |
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Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Thin ribs, Increase... |
ORPHA:1662 |
Kindler Epidermolysis Bullosa |
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Abnormal rib morphology |
ORPHA:2908 |
Cog1-Cdg |
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Failure to thrive, Rib fusion, Posterior rib gap |
ORPHA:263508 |
Proteus Syndrome |
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Gray matter heterotopia, Macrotia, Low-set ears, Narrow internal auditory canal |
ORPHA:744 |
Orofaciodigital Syndrome Type 14 |
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Low-set, posteriorly rotated ears, Partial agenesis of the corpus callosum, Periventricular heter... |
ORPHA:434179 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Thin ribs |
OMIM:225400 |
Osteogenesis Imperfecta, Type Vii |
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Pectus excavatum, Multiple rib fractures, Narrow chest |
OMIM:610682 |
Genitopatellar Syndrome |
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Periventricular heterotopia, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Hearing impai... |
OMIM:606170 |
Vater/Vacterl Association |
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Abnormal sternum morphology, Failure to thrive, Abnormal rib morphology |
OMIM:192350 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Small for gestational age, Thin ribs, Narrow chest, Failure to thrive |
OMIM:264090 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Wolf-Hirschhorn Syndrome |
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Rib segmentation abnormalities, Small for gestational age, Rib fusion, Abnormal sternal ossificat... |
OMIM:194190 |
Fetal Akinesia Deformation Sequence 1 |
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Small for gestational age, Thoracic hypoplasia, Thin ribs |
OMIM:208150 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Failure to thrive, Long clavicles, Thin ribs |
ORPHA:83617 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Barrel-shaped chest, Broad clavicles, Congenital pseudoarthrosis of the clavicle, Pectus carinatu... |
OMIM:276820 |
Coccidioidomycosis |
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Broad ribs |
ORPHA:228123 |
Femoral-Facial Syndrome |
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Sprengel anomaly, Rib fusion, Missing ribs |
OMIM:134780 |
Chromosome 1P36 Deletion Syndrome, Distal |
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11 pairs of ribs, Rib fusion, Obesity, Bifid ribs |
OMIM:607872 |
Mucopolysaccharidosis Type 2, Severe Form |
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Thickened ribs |
ORPHA:217085 |
Craniotubular Dysplasia, Ikegawa Type |
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Broad ribs |
OMIM:619727 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Thickened ribs |
ORPHA:217093 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Cervical ribs, Rib fusion, Failure to thrive in infancy |
ORPHA:500150 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Posteriorly rotated ears, Short stature, Uplifted earlobe, Periventricular heterotopia, Sensorine... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Posteriorly rotated ears, Short stature, Uplifted earlobe, Periventricular heterotopia, Sensorine... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Posteriorly rotated ears, Short stature, Uplifted earlobe, Periventricular heterotopia, Sensorine... |
ORPHA:261552 |
Baller-Gerold Syndrome |
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Rib fusion |
OMIM:218600 |
Townes-Brocks Syndrome |
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Failure to thrive, Abnormal rib morphology |
ORPHA:857 |
Primrose Syndrome |
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Neurodegeneration |
OMIM:259050 |
Pallister-Hall Syndrome |
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Rib fusion, Large for gestational age |
ORPHA:672 |
Infantile Spasms Syndrome |
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ORPHA:3451 |