| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:615269 |
| Medial Condensing Osteitis Of The Clavicle |
|
Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio... |
ORPHA:57196 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... |
OMIM:300604 |
| Xanthoma Disseminatum |
|
Diabetes insipidus, Osteolysis |
ORPHA:158003 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... |
ORPHA:163976 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
| Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail... |
OMIM:228600 |
| Mu-Heavy Chain Disease |
|
Bence Jones Proteinuria, Osteoporosis, Osteolysis, Weight loss, Nephropathy |
ORPHA:100024 |
| Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism, Osteoporosis, Elevated circulating creatine kinase con... |
ORPHA:408 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615271 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... |
OMIM:610628 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Hypospadias, Hypergonadotropic hypogonadism, Cryptorc... |
ORPHA:163971 |
| Idiopathic Hypercalciuria |
|
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... |
ORPHA:2197 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea |
OMIM:233300 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... |
ORPHA:2410 |
| Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... |
ORPHA:397685 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... |
ORPHA:432 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Osteoporosis, Gout, Increased LDL cholesterol concentration, Type II diabet... |
OMIM:610947 |
| Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
| Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
| Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... |
OMIM:618187 |
| Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Osteoporosis, Decreased body weight |
OMIM:613606 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Winchester Syndrome |
|
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis |
OMIM:277950 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty |
OMIM:615270 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Osteoporosis, Primary amenorrhea, Delayed thelarche, Hyperinsuli... |
OMIM:616033 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Absence of pubertal development |
OMIM:615267 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Decreased serum estradiol, ... |
ORPHA:90796 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... |
ORPHA:99879 |
| Ramon Syndrome |
|
Diabetes mellitus, Failure to thrive, Osteolysis |
ORPHA:3019 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Increased ... |
ORPHA:90791 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Micropenis, ... |
OMIM:614880 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... |
OMIM:614841 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacar... |
ORPHA:2774 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Osteoporosis |
OMIM:204730 |
| 49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Generalized joint... |
ORPHA:99330 |
| Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy |
OMIM:613909 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Absence of secondary se... |
ORPHA:785 |
| Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Decreased circulating osteocalcin level, Central diabetes insipidus |
OMIM:125700 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Gonadal dysgenesis, Cerebellar dysplasia |
OMIM:615041 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Abnormality of the kidney, Obesity |
OMIM:615988 |
| Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Osteolysis |
ORPHA:494 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Cognitive impai... |
ORPHA:276183 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulating follicle stimulating hormon... |
OMIM:614897 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... |
OMIM:612286 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Increased circulating ferritin... |
ORPHA:465508 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis |
ORPHA:2776 |
| Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... |
OMIM:612287 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Proteinuria, Abnormality of the kidney, Hyperlipidemia, Osteoporosis, Delayed puberty... |
ORPHA:369 |
| 49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Premature ovarian insufficiency, Osteoporosis, Hypothyroidism |
OMIM:618625 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Obesity, Pseudohypo... |
OMIM:612462 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Nephrolithiasis, H... |
ORPHA:93160 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Elevated circulating creatine kinase concentration, Hemolytic-uremic syndrome, Oste... |
OMIM:614727 |
| Rosaï-Dorfman Disease |
|
Osteolysis |
ORPHA:158014 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... |
OMIM:618841 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity, Joint stiffness |
ORPHA:1078 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
| Ollier Disease |
|
Precocious puberty, Osteolysis, Joint stiffness |
ORPHA:296 |
| Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, St... |
ORPHA:2232 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... |
OMIM:614962 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Micropenis, Osteoporosis, Decreased testicular size, Hypogonadotropic hypogonadism |
OMIM:614838 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
| Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Obesity, Pseudohypoparathyroidism, Subcutaneous ossification, Hyperphosphatemia, El... |
OMIM:103580 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... |
ORPHA:163634 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Osteoporosis, Ost... |
ORPHA:371428 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Osteoporosis, Increased body weight, Increase... |
OMIM:615830 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism |
OMIM:615266 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Osteoporosis, ... |
ORPHA:3409 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic ... |
ORPHA:91 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
| Osteosarcoma |
|
Pathologic fracture, Osteolysis, Weight loss |
ORPHA:668 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... |
OMIM:219080 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Neoplasm of the pancreas, Multiple joint ... |
ORPHA:2959 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormal repetitive mannerisms, Ventriculomegaly, Attention deficit hyperactivity ... |
OMIM:618709 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism, Osteoporosis |
ORPHA:2958 |
| Perrault Syndrome 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea |
OMIM:233400 |
| Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... |
ORPHA:79445 |
| Pseudopseudohypoparathyroidism |
|
Osteoporosis, Obesity, Pseudohypoparathyroidism |
OMIM:612463 |
| Bardet-Biedl Syndrome 5 |
|
Micropenis, Hypogonadism, Obesity, External genital hypoplasia |
OMIM:615983 |
| Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
| Prieto Syndrome |
|
Cryptorchidism, Osteoporosis |
OMIM:309610 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Streak ovary, Premature ovarian insuffici... |
ORPHA:3464 |
| Tenosynovial Giant Cell Tumor |
|
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness |
ORPHA:66627 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility |
ORPHA:436141 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, ... |
OMIM:616629 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca... |
OMIM:613388 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio... |
OMIM:619489 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... |
OMIM:615703 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Tall stature, Increas... |
OMIM:615923 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Desmoid Tumor |
|
Hydronephrosis, Limitation of joint mobility, Osteolysis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract... |
ORPHA:52430 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis... |
ORPHA:324964 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones |
ORPHA:53697 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney, Bone cyst, Limitation of join... |
ORPHA:2591 |
| Rhyns Syndrome |
|
Osteopenia, Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic k... |
OMIM:602152 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, O... |
OMIM:235200 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Abnormality of the urinary system, Premature ovarian ... |
ORPHA:101006 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... |
OMIM:602080 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
| Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... |
ORPHA:249 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Hyperphosphaturia, Osteomalacia, Decreased circulating p... |
ORPHA:157215 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis |
ORPHA:2786 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age |
OMIM:240900 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... |
OMIM:274300 |
| Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... |
OMIM:305400 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis |
OMIM:123155 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Elevated circulating C-reactive protein ... |
OMIM:612852 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decre... |
OMIM:614837 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
| Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Osteoporosis, Failure to thrive, Joint hypermobility |
OMIM:600118 |
| Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation |
OMIM:607091 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
| Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
| Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Joint stiffness, Decreased serum leptin, Flexion contracture, Osteoporosi... |
OMIM:614008 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... |
ORPHA:71529 |
| Classic Hodgkin Lymphoma |
|
Osteolysis, Weight loss |
ORPHA:391 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
| Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis |
ORPHA:1538 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Proteinuria, Osteoarthritis, Osteolysis, Hematuria, D... |
ORPHA:77259 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
| Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Renal phosphate wasting,... |
ORPHA:562 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Osteoporosis, Camptodactyly of finger, Hypogonadotropic hypogonadism |
ORPHA:48431 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... |
OMIM:616222 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
| Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Osteoporosis |
OMIM:618234 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Osteoporosis |
ORPHA:79301 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... |
ORPHA:95512 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Hydrocephalus, Elbow flexion contracture, Abnormal repetitive... |
OMIM:619470 |
| Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Osteoporosis |
OMIM:601811 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
| Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypo... |
OMIM:615982 |
| Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:603233 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Osteoporosis, Nephrolithiasis, Obesity, Increased circulating ACTH level, Hypo... |
OMIM:219090 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Abnormal circulating calcium concentration, Red... |
OMIM:619795 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Sp... |
OMIM:308750 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma |
OMIM:617343 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Cryptorchidism, Osteoporosis, Male hypogonadism, Joint c... |
OMIM:615381 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Isosexual precocious puberty, Osteoporosis, Increased susceptibility to... |
ORPHA:2788 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Osteolysis, Joint stiffness |
ORPHA:137834 |
| Juvenile Paget Disease |
|
Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabec... |
ORPHA:2801 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Urinary urgency, Decreased serum testosterone concentration |
OMIM:609195 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Decreased body weight, Delayed ossification of carpal bones, Reduced b... |
OMIM:618392 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... |
ORPHA:98754 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Tall stature, Methioninuria, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, Dis... |
OMIM:236200 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... |
ORPHA:98793 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Dermatoosteolysis, Kirghizian Type |
|
Osteoarthritis, Tarsal synostosis, Osteolysis |
ORPHA:1657 |
| Sialidosis Type 2 |
|
Nephropathy, Flexion contracture, Osteoporosis |
ORPHA:87876 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:71267 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Osteoporosis, Truncal obesity, Hypogonadism, Failure to thrive, Neonat... |
ORPHA:73272 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Gonadotropin de... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Gonadotropin de... |
ORPHA:71526 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... |
ORPHA:177901 |
| 1Q21.1 Microduplication Syndrome |
|
Arthrogryposis multiplex congenita, Hydrocephalus, Failure to thrive, Attention deficit hyperacti... |
ORPHA:250994 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogeni... |
OMIM:611555 |
| H Syndrome |
|
Decreased testicular size, Hypertriglyceridemia, Diabetes mellitus, Recurrent fractures, Abnormal... |
ORPHA:168569 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Decreased response to growth hormone st... |
OMIM:614732 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypospadias, Joint hypermobility, Hypogonadotropic hypogonadism, Cryptorchidism, Oste... |
OMIM:619718 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin lev... |
ORPHA:243 |
| Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... |
ORPHA:85282 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Failure to thrive, Small for gestational age, Slender build |
ORPHA:50811 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture... |
OMIM:259450 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Renal insufficiency, Flexion contracture, Osteolysis, Oliguria, Arthritis |
ORPHA:220393 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Hall-Riggs Syndrome |
|
Failure to thrive, Osteoporosis |
OMIM:234250 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Fractures of the long bones, Osteoporosis |
ORPHA:319195 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Osteolysis, Osteolytic defects of the distal phalanges of the hand, D... |
ORPHA:90154 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Hypercholesterolemia, Joint hy... |
ORPHA:254531 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... |
ORPHA:3044 |
| Richards-Rundle Syndrome |
|
Reduced bone mineral density, Ketonuria, Hypergonadotropic hypogonadism, Joint stiffness |
ORPHA:1399 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Aggressive Systemic Mastocytosis |
|
Pathologic fracture, Osteoporosis, Osteolysis, Weight loss |
ORPHA:98850 |
| Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
| Felty Syndrome |
|
Recurrent urinary tract infections, Limitation of joint mobility, Osteolysis, Synovitis, Weight l... |
ORPHA:47612 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Cryptorchidism, Flexion contracture, Osteoporosis, ... |
OMIM:214150 |
| Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Disproportionate tall statur... |
OMIM:606631 |
| Dietary Iron Overload Disease |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:139507 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Hypoalbuminemia, Abnormal saliva... |
ORPHA:2298 |
| Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
| Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine... |
OMIM:277700 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Hypoparathyroidism, Diabetes mellitus, Osteoporosis, Increased susceptibility to frac... |
ORPHA:231222 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Overgrowth, Obesity |
OMIM:620195 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Renal a... |
ORPHA:478 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Large for gestational age, Ricke... |
OMIM:616026 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum zinc, Hypogonadism, Decreased serum testosterone concentration, Failure to thrive... |
OMIM:201100 |
| Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... |
ORPHA:261476 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:617974 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Bone cyst, Reduced bone mineral density, Abnormal adipose tissue morphology, Disin... |
ORPHA:2770 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration |
OMIM:266100 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
ORPHA:739 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Hypogonadotropic hyp... |
ORPHA:35687 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Advanced ossification of carpal bones, Obesity, C... |
OMIM:614613 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Obesity,... |
ORPHA:2234 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Hypogonadotropic hypogonadism, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
| Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi... |
ORPHA:552 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures |
OMIM:126550 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Osteoporosis |
OMIM:601979 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Osteolysis involvin... |
OMIM:166300 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Hypercalcemia, Renal hamartoma, Testicular neopla... |
ORPHA:143 |
| Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Limitation of joint mobility, O... |
ORPHA:2796 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... |
ORPHA:791 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh... |
ORPHA:398069 |
| Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis |
OMIM:613849 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Micropen... |
OMIM:278850 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Elevated circulati... |
ORPHA:180229 |
| Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Obesity, Type II diabetes mellitus, Dis... |
ORPHA:2377 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Osteoporosis, Hypocholestero... |
OMIM:266510 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis |
OMIM:301900 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Osteoporo... |
ORPHA:264580 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Breast aplasia, Os... |
ORPHA:90153 |
| Propionic Acidemia |
|
Increased level of hippuric acid in urine, Osteoporosis, Hyperglycinuria, Hyperammonemia, Hypergl... |
OMIM:606054 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
| Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Hypogonadism, Osteoporosis, Decreased body weight |
OMIM:616200 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia, Attention deficit hyperact... |
ORPHA:261102 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
| Bruck Syndrome |
|
Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness |
ORPHA:2771 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Hypercalcemia, Renal hamartoma, Testicular neopla... |
ORPHA:99880 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Renal agenesis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Osteoporosis... |
ORPHA:2326 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet... |
ORPHA:97289 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Osteoporosis, Camptodactyly |
OMIM:616006 |
| Summitt Syndrome |
|
Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity |
ORPHA:3210 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Red urine, Osteolysis, Elevated circulating uroporphyrin concentration, Pathologic fr... |
OMIM:263700 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... |
OMIM:300148 |
| Cranioectodermal Dysplasia |
|
Joint hyperflexibility, Osteoporosis, Craniosynostosis |
ORPHA:1515 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:529665 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Flexion contracture, Self-mutilation |
OMIM:300884 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency, Megacystis, Reduced bone mineral density, Abnormality of the urina... |
ORPHA:977 |
| Kleeblattschaedel |
|
Hydrocephalus, Craniosynostosis |
OMIM:148800 |
| Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol,... |
OMIM:615363 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Ventriculomegaly |
OMIM:301107 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... |
OMIM:617994 |
| Werner Syndrome |
|
Renal neoplasm, Increased bone mineral density, Joint stiffness, Osteoporosis, Decreased fertilit... |
ORPHA:902 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Increased urinary glycerol, Small for gestationa... |
OMIM:307030 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Osteoporo... |
ORPHA:79240 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... |
OMIM:241080 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Joint hyperflexibil... |
ORPHA:10 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Proteinuria, Osteolysis, Increased susceptibility to fractures, H... |
ORPHA:77261 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Renal dysplasia, Obesity |
OMIM:615985 |
| Mycetoma |
|
Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab... |
ORPHA:2583 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones |
ORPHA:93351 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclero... |
OMIM:232200 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Renal agenesis, Craniosynostosis, Cryptorchidism, Renal hypoplasia, Obesity, Radioul... |
ORPHA:171839 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity, External genital hypoplasia |
OMIM:615981 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... |
OMIM:194072 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur... |
OMIM:615398 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio... |
ORPHA:251004 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Camptodactyly of toe, Oste... |
ORPHA:2848 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Abnormal testis morphology, Hypogonadism, Obesity |
ORPHA:2233 |
| Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
OMIM:176270 |
| Menkes Disease |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis |
OMIM:309400 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis, Failure to thrive in infancy, Obesity |
OMIM:613670 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... |
ORPHA:398063 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Osteoporosis, Thickened glo... |
OMIM:619487 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th... |
OMIM:259100 |
| Gamma-Heavy Chain Disease |
|
Osteolysis, Rheumatoid arthritis |
ORPHA:100026 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, El... |
OMIM:612089 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis |
OMIM:616937 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Abnormal circulating porphyrin concentration, Osteoporosis, Osteolysis, Red-brown uri... |
ORPHA:95159 |
| Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Recurrent fractures, Abnormality of the kidney... |
ORPHA:1764 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone con... |
OMIM:608747 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Glomerulopathy, Hemolytic-uremic syndrome, Osteoporosis, Hyperhomocystinemia, ... |
ORPHA:2169 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Flexion con... |
OMIM:613327 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
| Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ... |
OMIM:208230 |
| Amish Lethal Microcephaly |
|
Decreased skull ossification, Osteoporosis, Limitation of joint mobility, Organic aciduria |
ORPHA:99742 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
| Chung-Jansen Syndrome |
|
Cryptorchidism, Obesity, Joint hypermobility |
OMIM:617991 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Obesity, Hypogonadism, Hydron... |
OMIM:615996 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Abnormal circulating insulin concentration, Increased... |
ORPHA:293964 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Shoulder flexion contracture, Elevated circulating creatine kinase concentration... |
OMIM:255800 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Hydrocephalus, Obesity, Polyphagia, Self-mutilation |
OMIM:616521 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Axial Osteomalacia |
|
Increased bone mineral density, Renal cyst, Osteomalacia, Elevated circulating creatine kinase co... |
OMIM:109130 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Stage 3 chronic kidney disease, Hyperparathyroidism, Cortical scl... |
OMIM:620366 |
| Indolent Systemic Mastocytosis |
|
Osteoporosis |
ORPHA:98848 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Osteomalacia, Delayed epiphyseal oss... |
OMIM:300009 |
| Neural Tube Defects, Susceptibility To |
|
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta |
OMIM:182940 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycosu... |
OMIM:615605 |
| 19P13.3 Microduplication Syndrome |
|
Precocious puberty, Osteoporosis, Unilateral cryptorchidism |
ORPHA:447980 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Insulin-resistant diabetes mellitus, Stage 5 chronic kidney ... |
OMIM:608612 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Pancreatic fibrosis, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Focal segm... |
OMIM:232220 |
| Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... |
ORPHA:361 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism, Cerebellar dysplasia |
OMIM:250951 |
| Lysinuric Protein Intolerance |
|
Failure to thrive, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentrati... |
OMIM:222700 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to... |
OMIM:602722 |
| Clark-Baraitser syndrome |
|
Joint laxity, Macroorchidism, Obesity, Tall stature |
OMIM:300602 |
| Dent Disease |
|
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... |
ORPHA:1652 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency, Insulin-resistant diabetes mellitus, Osteoporosis, Ivory epiphyses of the ph... |
OMIM:226980 |
| Fried Syndrome |
|
Hydrocephalus, Aggressive behavior |
ORPHA:85335 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation... |
OMIM:615238 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent fractures, Elev... |
ORPHA:355 |
| Laron Syndrome |
|
Hypoplasia of penis, Abnormality of the endocrine system, Osteoarthritis, Truncal obesity, Delaye... |
ORPHA:633 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Cryptorchidism, Flexion contracture, Obesity, Hypogonadism, Camptod... |
OMIM:615547 |
| Mixed Connective Tissue Disease |
|
Arthritis, Nephropathy, Osteolysis, Joint stiffness |
ORPHA:809 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Abnormal circulating porphyrin concentration, Osteoporosis, Osteolysis, Red-brown uri... |
ORPHA:79277 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ur... |
ORPHA:2495 |
| Macs Syndrome |
|
Joint laxity, Hypergonadotropic hypogonadism, Cryptorchidism, Urethral stenosis, Osteoporosis, De... |
OMIM:613075 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Generalized bo... |
OMIM:215250 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... |
ORPHA:263455 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
| Cantu Syndrome |
|
Osteoporosis, Large for gestational age |
OMIM:239850 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Osteolysis involvin... |
ORPHA:464321 |
| Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... |
ORPHA:793 |
| Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets, Thyroiditis, Weight loss, Hypocalcemia, Infertility, Delayed puberty, Type... |
OMIM:212750 |
| Immunodeficiency 61 |
|
Arthritis, Obesity |
OMIM:300310 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... |
ORPHA:94086 |
| Trisomy 5P |
|
Hypoplasia of penis, Obesity, Renal hypoplasia/aplasia |
ORPHA:1742 |
| Odontochondrodysplasia 1 |
|
Osteoporosis, Delayed ossification of carpal bones, Polycystic kidney dysplasia, Nephronophthisis... |
OMIM:184260 |
| Sickle Cell Anemia |
|
Pigment gallstones, Osteomyelitis, Elevated circulating creatinine concentration, Osteoporosis, U... |
ORPHA:232 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Decreased skull ossification, Testicular atrophy |
OMIM:601163 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79444 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Hypospadias, Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed puberty, Micr... |
OMIM:300354 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Joint stiffness, Hyperlipidemia, Flexion contracture, Elbow flexion contr... |
OMIM:248370 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Advanced ossification of carpal bones, Obesity, Truncal obesity, Joint hypermobi... |
OMIM:618363 |
| Osteogenesis Imperfecta, Type Xxi |
|
Osteoporosis, Recurrent fractures, Joint hypermobility |
OMIM:619131 |
| Wilson Disease |
|
Hypoparathyroidism, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouri... |
OMIM:277900 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Stage 1 chronic kidney disease, Obesity, Limited shoulde... |
OMIM:618821 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss, Type I... |
ORPHA:1979 |
| Cornelia De Lange Syndrome 5 |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Micropenis, Limited elbow extension, Decreased tes... |
OMIM:300882 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity |
OMIM:300209 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Low-molecular-weight proteinuria, Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed... |
OMIM:300554 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating... |
OMIM:179800 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... |
OMIM:203800 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Recurrent urinary tract infections, Craniosynostosis, Joint stiffness, ... |
ORPHA:309282 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive |
ORPHA:26 |
| Carpenter Syndrome |
|
External genital hypoplasia, Craniosynostosis, Abnormal reproductive system morphology, Cryptorch... |
ORPHA:65759 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Cryptorchidism, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C... |
OMIM:618000 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Precocious puberty, Obesity, Type I diabetes mellitus, Moderate albuminuria, Hydronep... |
OMIM:619269 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture of the distal interphala... |
ORPHA:2614 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Long penis, Decre... |
OMIM:202010 |
| Joubert Syndrome 37 |
|
Decreased testicular size, Cryptorchidism, Obesity, Micropenis, Hydronephrosis, Joint hypermobility |
OMIM:619185 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Rickets, Hypercalciuria, ... |
ORPHA:2088 |
| Desbuquois Dysplasia 1 |
|
Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa... |
OMIM:251450 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus |
OMIM:258320 |
| Niemann-Pick Disease, Type A |
|
Failure to thrive, Osteoporosis |
OMIM:257200 |
| Spondylo-Ocular Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:85194 |
| Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Fractures of the long bones, Osteolysis, Multiple renal cysts, En... |
ORPHA:464329 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism, Abnormality of the kidney, Reduced bone mineral density |
ORPHA:466926 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Joint hyperflexibility, Truncal obesity, Hypo... |
ORPHA:127 |
| Morm Syndrome |
|
Truncal obesity, Micropenis, Abnormality of the kidney |
ORPHA:75858 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:369873 |
| Wilson-Turner Syndrome |
|
Truncal obesity, Hypogonadotropic hypogonadism, Cryptorchidism |
ORPHA:3459 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Abnormal pons morphology, Decreased serum insulin-like growth factor 1, Elevated ... |
ORPHA:85327 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Failure to thrive, Hypospadias, Recurrent fractures, Osteoporosis, Osteolysis, Joint ... |
ORPHA:955 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... |
OMIM:600955 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Generalized osteoporosis, Joint hypermobility |
OMIM:617952 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Obesity, Synostosis of carpa... |
ORPHA:3191 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity, External genital hypoplasia |
ORPHA:363741 |
| Rafiq Syndrome |
|
Joint laxity, Flexion contracture, Obesity, Truncal obesity, Joint hypermobility |
OMIM:614202 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesi... |
OMIM:300957 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia |
ORPHA:177910 |
| Acalvaria |
|
Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia |
OMIM:605231 |
| 48,Xxxy Syndrome |
|
Decreased testicular size, Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Joint hyp... |
ORPHA:96263 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Hypospadias, Craniosynostosis, Bilateral cryptorchidism, Osteoporosis |
ORPHA:2409 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Joint hyperflexibility, Abnormality of the ureter, Obesity |
ORPHA:1035 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79443 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Failure to thrive, Flexion contracture, Osteoporosis |
OMIM:615851 |
| Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testostero... |
ORPHA:247768 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal ... |
OMIM:615980 |
| Central Precocious Puberty In Male |
|
Hydrocephalus, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:649929 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Bilateral crypt... |
OMIM:300998 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation |
OMIM:300558 |
| Immunodeficiency 12 |
|
Osteoporosis, Decreased body weight |
OMIM:615468 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibrosis, Osteoporosis, Increase... |
ORPHA:79259 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis |
ORPHA:199354 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased serum leptin,... |
ORPHA:435660 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Renal neoplasm, I... |
ORPHA:79474 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... |
ORPHA:79085 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Decreased serum testosterone concentration, Multicystic kidney dysplasi... |
ORPHA:97360 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Obesit... |
OMIM:614231 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Flexion contracture, Bone cyst, Osteolysis, Hypogonadism |
ORPHA:3042 |
| Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Abnormal bone o... |
ORPHA:2563 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Cryptorchidism, Flexion contracture, Osteoporosis, Elbow flexion contracture |
OMIM:614438 |
| Geroderma Osteodysplastica |
|
Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification |
ORPHA:2078 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Hypospadias, Small for gestational age, Decreased response to growth hormone stimul... |
ORPHA:94065 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Wagr Syndrome |
|
Ambiguous genitalia, Displacement of the urethral meatus, Obesity, Cryptorchidism |
ORPHA:893 |
| Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino... |
OMIM:267200 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Flexion contracture, Obesity, Macroorchidism, Male hypogonadism, Wrist flexion contracture |
OMIM:300055 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
| Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy, Reduced bone mineral density |
ORPHA:834 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Craniosynostosis, Hydrocephalus, Camptodactyly of toe, Umbilical hernia, Hypergl... |
OMIM:175700 |
| 19P13.12 Microdeletion Syndrome |
|
Hypospadias, Craniosynostosis, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Arthr... |
ORPHA:254346 |
| Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
| Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Obesity, Joint hypermobility |
OMIM:619056 |
| 46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia, Limitation of joint mobility, Obesity |
ORPHA:289522 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... |
ORPHA:79644 |
| Papillon-Lefèvre Syndrome |
|
Osteolysis |
ORPHA:678 |
| Alg6-Cdg |
|
Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increased circulating and... |
ORPHA:79320 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, C... |
ORPHA:370022 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I... |
ORPHA:347 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... |
ORPHA:261222 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... |
ORPHA:314478 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Osteoporosis, Adrenal insuff... |
ORPHA:231226 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Osteoporosis, Vesicoureteral reflux, Horseshoe kidney |
OMIM:612562 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Obesity, Joint hypermobility |
ORPHA:480907 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture... |
OMIM:620351 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... |
OMIM:601678 |
| Diencephalic Syndrome |
|
Hydrocephalus, Cachexia, Decreased body weight |
ORPHA:1672 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Cryptorchidism, Obesity |
OMIM:615633 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Ovarian neoplasm, Neoplasm of the thyroid gland, Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Renal hypoplasia, ... |
ORPHA:464288 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Cystic angiomatosis of bone, Clitoral hypertrophy, Hypertriglyceridemia, Elevated hemoglobin A1c,... |
OMIM:269700 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Cystic angiomatosis of bone, Clitoral hypertrophy, Hypertriglyceridemia, Diabetes mellitus, Decre... |
OMIM:608594 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Failure to thrive, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine conce... |
OMIM:616034 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Cryptorchidism, Urethral stenosis, Osteoporosis |
OMIM:613990 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma... |
ORPHA:3337 |
| Coccidioidomycosis |
|
Renal insufficiency, Osteomyelitis, Abnormal sperm morphology, Abnormality of the kidney, Abnorma... |
ORPHA:228123 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Premature ovarian insufficiency, Camptodactyly of finger |
ORPHA:2928 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Overgrowth |
OMIM:605309 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypogonadism, Reduced bone mineral density |
ORPHA:2983 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, External genital hypoplasia, Truncal obesity, Hypogonadi... |
ORPHA:3041 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Osteoporosis, Unilateral renal agenesis |
OMIM:617190 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Ren... |
ORPHA:18 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Vaginal neoplasm, Osteolysis, Ambiguous genitalia, Nephroblastoma, ... |
ORPHA:1052 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Frequent temp... |
OMIM:620141 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Advanced ossification of carpal bones, Obesity, Polycystic ovaries, Overg... |
OMIM:616831 |
| Occipital Horn Syndrome |
|
Osteopenia, Recurrent urinary tract infections, Osteomalacia, Osteoporosis, Rickets, Osteolysis, ... |
ORPHA:198 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Renal steatosis... |
ORPHA:412 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:613155 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
| Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,... |
OMIM:615418 |
| Beta-Thalassemia |
|
Cholelithiasis, Hypogonadotropic hypogonadism, Abnormality of iron homeostasis, Reduced bone mine... |
ORPHA:848 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Thin bony cortex, Recurrent fractures, Cryptorchidism, O... |
OMIM:309583 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Hydrocephalus, Craniosynostosis |
ORPHA:1516 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Craniosynostosis, Congenital diaphragmatic hernia |
ORPHA:380 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
| Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Recurrent fractures, Elevated circulating thyroid-stimulating hormone concentr... |
OMIM:601812 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Hydrocephalus, Abnormal cortical bone ... |
ORPHA:2635 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... |
ORPHA:435651 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... |
ORPHA:90790 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Osteopenia, Hydrocephalus, Failure to thrive |
OMIM:269920 |
| Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, External genital hypoplasia, Flexion contracture, Osteoporosis, Rickets... |
ORPHA:2671 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal circulating C-reactive protein concentration, Limitation of joint mobility, Abnormality ... |
ORPHA:1159 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Joint stiffness, Pr... |
ORPHA:819 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesity, Nephrotic syndrome, H... |
ORPHA:110 |
| Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Chondroitin sulfate excretion in urine, Osteoporosis, Keratan sulfate excretion in ... |
OMIM:253000 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
OMIM:616507 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Decreased calv... |
OMIM:259420 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Urinary incontinence, Obesity |
ORPHA:464282 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Joint stiffness, Osteoporosis, Chondroitin sulfate excretion in urine, Keratan sulf... |
OMIM:253010 |
| Alexander Disease Type I |
|
Hydrocephalus, Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Osteoporosis, Adrenal insuff... |
ORPHA:231214 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Failure to thrive, Osteoporosis |
OMIM:613989 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Obesity |
OMIM:604360 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Craniosynostosis |
ORPHA:1528 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Coxoauricular Syndrome |
|
Reduced bone mineral density |
ORPHA:1508 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Large for gestational age, Osteoporosis, Finger joint hypermobility |
ORPHA:363705 |
| Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis |
ORPHA:2477 |
| 14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity |
ORPHA:261229 |
| Chime Syndrome |
|
Hydronephrosis, Osteolysis, Tall stature, Abnormality of the kidney |
ORPHA:3474 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
| Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:85138 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Hypospadias, Cryptorchidism, Obesity, Elevated circulating parathyroid hormone level |
ORPHA:439822 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Organic aciduria, Obesity, Joint hypermobility |
OMIM:620191 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Abnormality of urine homeostasis, Reduced bone mineral density |
ORPHA:1414 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Hypospadias, Cryptorchidism, Osteoporosis, Foot acroosteolysis, Osteoly... |
OMIM:102500 |
| X Small Rings |
|
Joint laxity, Premature ovarian insufficiency, Fetal pyelectasis, Osteoporosis, Primary amenorrhe... |
ORPHA:96201 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Osteoporosis, Hypoalbuminemia, A... |
ORPHA:186 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Joint stiffness, Achill... |
ORPHA:98855 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Decreased adipo... |
ORPHA:280365 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Baralle-Macken Syndrome |
|
Urinary incontinence, Obesity |
OMIM:619255 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula... |
OMIM:600740 |
| Cryptococcosis |
|
Osteomyelitis, Prostatitis, Osteolysis |
ORPHA:1546 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... |
ORPHA:369837 |
| Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Crypt... |
ORPHA:488632 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:619737 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Gout, Nephrocalcinosis, Hypernatriu... |
ORPHA:90041 |
| Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Obesity, Proportionate tall stature, Neuroendocrine neoplasm, Joint hypermobility |
ORPHA:404443 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density... |
ORPHA:94068 |
| Carpenter Syndrome 1 |
|
Hydroureter, External genital hypoplasia, Sagittal craniosynostosis, Precocious puberty, Cryptorc... |
OMIM:201000 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Recurrent fractures, Ectopic kidney, Cryptorchidism, Osteoporosis, Disproportionate ... |
ORPHA:3063 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
| Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity, Horseshoe kidney |
OMIM:617406 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Diabetes mellitus, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:254892 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Micropenis, Decreased testicular size, Decreased response to growth hormone stimulation test, Cer... |
ORPHA:457240 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Craniosynostosis |
OMIM:612247 |
| Incontinentia Pigmenti |
|
Camptodactyly of finger, Osteolysis, Supernumerary nipple |
ORPHA:464 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, External genital hypoplasia, Obesity |
OMIM:600151 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Joint stiffness, Achill... |
ORPHA:98863 |
| 13Q12.3 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Obesity, Camptodactyly |
ORPHA:412035 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Osteolysis |
ORPHA:2396 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Joint stiffness, Achill... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Joint stiffness, Achill... |
ORPHA:98853 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
| Adiposis Dolorosa |
|
Arthritis, Hypothyroidism, Obesity |
ORPHA:36397 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Chikungunya |
|
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... |
ORPHA:324625 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Camptodactyly |
OMIM:301039 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Obesity |
ORPHA:174 |
| Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Obesity |
OMIM:245800 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age |
OMIM:618302 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Hydrocephalus, Flexion contracture |
ORPHA:99947 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Holoprosencephaly, Meningocele, Elevated circulating creatine kinase concentration |
ORPHA:588 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Delayed ossification of carpal bones, Obesity |
OMIM:618395 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur... |
ORPHA:1900 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Camptodactyly of finger, Cachexia, Obesity, Joint hyperflexibility, Hypogona... |
ORPHA:85293 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec... |
ORPHA:813 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation, Ven... |
OMIM:613153 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly, Hernia |
OMIM:602501 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Increased circulating androgen concentration, Bladder diverticulum, Premature ... |
ORPHA:2976 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1... |
ORPHA:77293 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Renal insufficiency, Irregular menstruation, Obesity |
OMIM:615986 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hernia |
ORPHA:251046 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, ... |
ORPHA:79408 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Precocious puberty, Osteoporosis, Osteolysis, Renovascular hypertension, Glomus jugul... |
ORPHA:97685 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Abnormal circulating cholesterol concentration, Osteoporosis |
OMIM:213700 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Cryptorchidism, Type I diabetes mellitus |
OMIM:620365 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly |
ORPHA:858 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Osteoporosis, Bladder diverticulum, Disproportionate tall stature, Tall... |
OMIM:225400 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... |
ORPHA:96181 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Delayed vertebral ossification, Small for gestational age, Hydrocephalus, Flexion contracture, De... |
OMIM:613330 |
| Zygomycosis |
|
Renal insufficiency, Diabetes mellitus, Nephritis, Osteolysis |
ORPHA:73263 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis |
OMIM:615994 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Obesity |
OMIM:618124 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Flexion contracture, S... |
OMIM:304340 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen... |
ORPHA:495875 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Hydrocephalus, Flexion contractu... |
ORPHA:500055 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational a... |
OMIM:241200 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Hydrocephalus, Attention deficit hyperactivity disorder, Failure to th... |
OMIM:609757 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Diabetes mellitus, Recurrent fractures, Urethral stenosis, Osteoporosis... |
ORPHA:1775 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Flexion contracture, Camptodactyly of finger, Ventriculomegaly |
ORPHA:272 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity |
ORPHA:3077 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Congenital Disorder Of Deglycosylation 1 |
|
Elevated circulating alpha-fetoprotein concentration, Heparan sulfate excretion in urine, Osteopo... |
OMIM:615273 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Communicating hydrocephalus, Hydrocephalus, Reduced bone mineral density, Coronal cra... |
OMIM:112240 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Unilambdoid synostosis, Ventriculomegaly |
OMIM:618577 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Hydroureter, Osteomalacia, Abnormality of the kidney, ... |
ORPHA:2636 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
| Farber Disease |
|
Arthritis, Failure to thrive, Flexion contracture, Osteoporosis |
ORPHA:333 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding |
OMIM:160900 |
| Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Recurrent fractures, Joint hypermobility, Craniosynostosis, Osteoporosis, Elbow flexi... |
OMIM:245600 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, R... |
ORPHA:47159 |
| Brittle Cornea Syndrome |
|
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures |
ORPHA:90354 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysphagia |
ORPHA:163961 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Impaired glucose tolerance, Hydrocephalus, Obesity, Glucose intolerance, Ventriculomegaly |
OMIM:615630 |
| Occipital Horn Syndrome |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con... |
OMIM:304150 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Renal insufficiency, Osteoporosis, Thyroiditis, Weight loss, Hypoalbuminemia, Neoplas... |
ORPHA:171 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration |
OMIM:615181 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Osteoporosis, 3-Methylglutaconic aciduria, Bile duct proliferation, Ethylmalonic acidur... |
OMIM:203700 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
| Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, A... |
ORPHA:3157 |
| B4Galt1-Cdg |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hydrocephalus, Dec... |
ORPHA:79332 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Increased skull ossification, Craniofacial osteosclerosis, Hydrocephalus, Diaph... |
OMIM:618476 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... |
OMIM:617600 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
| Down Syndrome |
|
Joint laxity, Renal hypoplasia/aplasia, Obesity, Decreased fertility, Type II diabetes mellitus, ... |
ORPHA:870 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Osteoporosis |
OMIM:224230 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... |
ORPHA:769 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Abnormality of the endocrine system, Functional abnormality of the bladder, Thyroidit... |
ORPHA:391487 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Recurrent fractures, Grade II vesicoureteral reflux, Reduced bone mineral density, W... |
OMIM:619377 |
| Lathosterolosis |
|
Bilobate gallbladder, Osteoporosis, Horseshoe kidney, Abnormal circulating cholesterol concentrat... |
OMIM:607330 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Pathologic fracture, Osteoporosis, Increased susceptibility to fractures |
OMIM:612199 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Small for gestational age, Cryptorchidism, Osteoporosis, Hypogonadism, Annular pancreas |
OMIM:268400 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Diabetes insipidus, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Joint hypermobility, Reduced bone mineral density |
OMIM:619115 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Impaired distal proprioception, ... |
OMIM:157640 |
| Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Podagra, Testicular atrophy |
OMIM:300322 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture |
OMIM:620232 |
| Retinitis Pigmentosa 51 |
|
Abnormality of the kidney, Obesity |
OMIM:613464 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Nephropathy, Elevated circulating creatinine concentration, Abnormalit... |
ORPHA:29073 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Cryptorchidism, Abnormal renal morphology, Obesity, Micropenis, Tracheobronchomalacia |
OMIM:610253 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Limi... |
ORPHA:261494 |
| Cleidocranial Dysplasia |
|
Decreased skull ossification, Osteoporosis, Recurrent fractures |
ORPHA:1452 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly, Distal arthrogryposis,... |
OMIM:619833 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting, Hypokalemia, Hypomagnesemia, Ventriculomegaly |
OMIM:618314 |
| Glutaric Acidemia I |
|
Hypoglycemia, Hydrocephalus, Lateral ventricle dilatation, Elevated circulating glutaric acid con... |
OMIM:231670 |
| Krabbe Disease |
|
Hydrocephalus, Failure to thrive, Increased CSF protein concentration |
OMIM:245200 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hy... |
OMIM:615989 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618089 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Small for gestational age, Cryptorchidism, Limitation of joint ... |
OMIM:133540 |
| Cantú Syndrome |
|
Osteoporosis |
ORPHA:1517 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Hypoglycemia, Ventriculomegaly |
OMIM:616355 |
| Cystic Fibrosis |
|
Osteopenia, Absent vas deferens, Osteoporosis, Nephrolithiasis, Failure to thrive, Decreased body... |
ORPHA:586 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hypothyroidism, Obesity |
OMIM:600430 |
| Classic Homocystinuria |
|
Disproportionate tall stature, Osteoporosis, Recurrent fractures, Joint stiffness |
ORPHA:394 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss, Osteoporosis, Increased susceptibility to fractures |
ORPHA:98849 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Addictive alcohol use, Hypercholesterol... |
ORPHA:90065 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Obesity, Renal hypoplasia, Decrease... |
ORPHA:3138 |
| Cln3 Disease |
|
Urinary bladder sphincter dysfunction, Increased circulating androgen concentration |
ORPHA:228346 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Obesity, Craniosynostosis |
ORPHA:261197 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Vitamin K Antagonist Embryofetopathy |
|
Epiphyseal stippling, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Rett Syndrome |
|
Increased serum pyruvate, Failure to thrive, Increased serum leptin, Hyperammonemia |
ORPHA:778 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Craniosynostosis, Hydrocephalus, Osteopetrosis, Hypocalcemia, Fai... |
OMIM:259700 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Ectopic kidney, Reduced bone mineral density, Hashimoto thyroiditis, Premature ovaria... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Ectopic kidney, Reduced bone mineral density, Hashimoto thyroiditis, Premature ovaria... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Ectopic kidney, Reduced bone mineral density, Hashimoto thyroiditis, Premature ovaria... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Ectopic kidney, Reduced bone mineral density, Hashimoto thyroiditis, Premature ovaria... |
ORPHA:881 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Renal neoplasm, Multiple joint contractures, Recurrent fractures, Craniosynostosis, O... |
ORPHA:536467 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Coach Syndrome 2 |
|
Hydrocephalus, Elevated circulating creatinine concentration |
OMIM:619111 |
| Cranioectodermal Dysplasia 1 |
|
Joint laxity, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney disease, Osteopo... |
OMIM:218330 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Nail dystrophy |
OMIM:618165 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac... |
OMIM:601559 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Sagittal craniosynostosis, Hydrocephalus, Attention deficit hyperactivity disord... |
ORPHA:459061 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Osteoporosis, Oligosacch... |
ORPHA:365 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:2181 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Flexion cont... |
OMIM:613154 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity |
ORPHA:411515 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes ins... |
OMIM:209900 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... |
OMIM:158330 |
| 6Q16 Microdeletion Syndrome |
|
Obesity |
ORPHA:171829 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureter... |
OMIM:194050 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Man1B1-Cdg |
|
Truncal obesity, Joint hypermobility |
ORPHA:397941 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tub... |
ORPHA:904 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Scarring |
ORPHA:398189 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Abnormality of the kidney, Obesity |
OMIM:610543 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia |
OMIM:207950 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Obesity, Joint hyperflexibility, Tracheomalac... |
ORPHA:1001 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Delayed puberty... |
OMIM:216550 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Hypercholesterolemia, Micropenis |
OMIM:619471 |
| Tenorio Syndrome |
|
Osteopenia, Hypoglycemia, Hydrocephalus, Hypoinsulinemia, Ventriculomegaly |
OMIM:616260 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Obesity, Vesicoureteral reflux, Failure... |
ORPHA:96147 |
| Primrose Syndrome |
|
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Joint hypermobility, Elevated... |
OMIM:259050 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Hyperbilirubinemia, Decreased body weight, Elevated circulating long chain fatty a... |
OMIM:614886 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Elevated circulating creatine kinase concentra... |
ORPHA:370959 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity, Overgrowth, Tracheomalacia |
OMIM:620155 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Truncal obesity, Polycystic ovaries |
ORPHA:284180 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Cranial hyperostosis, Diaphyseal sclerosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259710 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria, Osteoporosis,... |
OMIM:619525 |
| Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Hydrocephalus, Hypocalcemia |
ORPHA:53 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Radial club hand, Hydrocephalus |
OMIM:276950 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
| Wagro Syndrome |
|
Proteinuria, Nephroblastoma, Obesity, Hypoplastic female external genitalia, Decreased testicular... |
OMIM:612469 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Hydrocephalus, Enamel hypoplasia, Failure to ... |
OMIM:614576 |
| Glass Syndrome |
|
Generalized osteoporosis, Camptodactyly |
OMIM:612313 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Agenesis of pineal gland, Multiple joint contractures, Joint hypermobility, Sagittal ... |
ORPHA:536471 |
| Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Overweight, Obesity, Hypercholesterolemia, Cholelithiasis |
ORPHA:69663 |
| Achondroplasia |
|
Knee joint hypermobility, Limited elbow extension, Obesity, Hip joint hypermobility |
ORPHA:15 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity, Craniosynostosis |
ORPHA:251038 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ... |
OMIM:259770 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, T... |
OMIM:616541 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the menstrual cycle, Osteoarthritis, Limitation of joint mobility, Cystocele, Oste... |
ORPHA:285 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Parathormone-independent in... |
ORPHA:405 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Uterine prolapse, Decreased serum iron, Abnormality of the endocrine sy... |
ORPHA:438213 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Attention deficit hyperactivity disorder, Noncommunicating hydrocephalus, Compulsive behaviors, A... |
OMIM:619320 |
| Chops Syndrome |
|
Cryptorchidism, Vesicoureteral reflux, Horseshoe kidney, Obesity, Tracheomalacia, Cervical C2/C3 ... |
OMIM:616368 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Osteoporosis |
OMIM:127550 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Osteoporosis, Disproportionate tall statu... |
ORPHA:280 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Hypospadias, Cryptorchidism, Osteoporosis, Lower-limb joint contracture, Delayed puberty, Decreas... |
ORPHA:459070 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Cryptorchidism, Obesity, Joint hyperflexibility, Delayed puberty |
ORPHA:193 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Osteoporosis, Bladder diverticulum, Disproportionate tall stature, Joint hypermobility |
ORPHA:536545 |
| Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Limited elbow movement, Cachexia, Osteoporosis, Disproportionat... |
ORPHA:558 |
| Menkes Disease |
|
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility, Blad... |
ORPHA:565 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly |
OMIM:249420 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
ORPHA:1895 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Obesity |
OMIM:619312 |
| Triploidy |
|
Omphalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Decreased skull ossification |
ORPHA:3376 |
| Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, ... |
ORPHA:428 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1946 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:615249 |
| Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618430 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis... |
OMIM:271640 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
| Insulin-Like Growth Factor I, Resistance To |
|
Increased circulating insulin-like growth factor 1 concentration, Truncal obesity, Diabetes melli... |
OMIM:270450 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Hydrocephalus, Failure to thrive |
OMIM:620157 |
| Fg Syndrome Type 1 |
|
Inguinal hernia, Progressive flexion contractures, Craniosynostosis, Hydrocephalus, Compulsive be... |
ORPHA:93932 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Hydrocephalus, Decreased skull ossification, Hypocalcemia |
OMIM:602361 |
| Distal Deletion 12Q |
|
Diabetes mellitus, Failure to thrive in infancy, Unilateral cryptorchidism, Maturity-onset diabet... |
ORPHA:96149 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Enuresis, Obesity, Decreased body weight |
ORPHA:589821 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Dandy-Walker malformation |
OMIM:147800 |
| Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, Osteoporosis, Horseshoe kidney, Decreas... |
OMIM:305000 |
| Cerebral Visual Impairment |
|
Hydrocephalus, Neonatal hypoglycemia, Attention deficit hyperactivity disorder |
ORPHA:447788 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostosis, Dentinogenesis ... |
OMIM:616294 |
| Osteogenesis Imperfecta |
|
Osteopenia, Small for gestational age, Recurrent fractures, Fractures of the long bones, Osteoart... |
ORPHA:666 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, Overweight, Obesity, Decreased body weight, Joint hypermobility |
OMIM:619229 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Hyperostosis, Subcutaneous lipoma, Shagreen patch |
ORPHA:2969 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Lipoatrophy, Craniosynostosis... |
OMIM:616914 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Female hypogonadism, Decreased serum leptin, Joint stiffness, L... |
ORPHA:740 |
| Crouzon Syndrome |
|
Hydrocephalus, Multiple suture craniosynostosis |
ORPHA:207 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Joint contracture, Dandy-Walker malformation |
OMIM:225790 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Cholelithiasis, Hypothyroidism |
ORPHA:909 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Craniosynostosis, Unilateral renal agenesis, Cryptorchidism, Obesity, Enuresis, Apla... |
ORPHA:96121 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Hypospadias, Precocious puberty, Truncal obesity, Type II diabetes mellitus... |
OMIM:210720 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Osteogenesis Imperfecta, Type Iv |
|
Reduced bone mineral density, Bowing of limbs due to multiple fractures, Recurrent fractures, Inc... |
OMIM:166220 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Nail dystrophy |
OMIM:613987 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Whipple Disease |
|
Hyponatremia, Anorexia, Cachexia, Hydrocephalus, Insulin resistance, Polydipsia |
ORPHA:3452 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
| Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Radial club hand, Hydrocephalus, Hyperkalemia, Decreased body weight |
OMIM:617053 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Inguinal hernia, Failure to thrive, Hydrocephalus |
OMIM:612940 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Obesity |
ORPHA:98794 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Elbow flexion contracture, Obesity, Finger joint hypermobility |
OMIM:618493 |
| Emanuel Syndrome |
|
Inguinal hernia, Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Joint contract... |
OMIM:609029 |
| Desmosterolosis |
|
Ventriculomegaly, Failure to thrive, Generalized osteosclerosis, Hydrocephalus, Abnormal circulat... |
OMIM:602398 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Failure to thrive, Overweight, Hydrocephalus, Head-banging, Self-injurious behavior, Lateral vent... |
OMIM:619575 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |
| White-Sutton Syndrome |
|
Joint laxity, Duplicated collecting system, Failure to thrive, Obesity |
OMIM:616364 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
| Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Proteinuria, Hypogonadotropic hypogonadism... |
ORPHA:79318 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
| Emanuel Syndrome |
|
Inguinal hernia, Multiple joint contractures, Ventriculomegaly, Congenital diaphragmatic hernia, ... |
ORPHA:96170 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... |
ORPHA:284984 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Decreased skull ossification |
OMIM:300863 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
| Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
| Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| White-Kernohan Syndrome |
|
Joint laxity, Hydroureter, Obesity, Horseshoe kidney, Rectovaginal fistula, Hypothyroidism, Hydro... |
OMIM:619426 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Flexion contracture, Dandy-Walker malformation |
OMIM:310400 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Umbilical hernia, Hydrocephalus, Failure to thrive, Dandy-Walker malformation |
OMIM:612938 |
| Distal Triplication 15Q |
|
Craniosynostosis, Large for gestational age, Hydrocephalus, Flexion contracture, Hernia, Camptoda... |
ORPHA:314588 |
| 8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
| Desbuquois Dysplasia 2 |
|
Joint laxity, Truncal obesity, Advanced ossification of carpal bones |
OMIM:615777 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Decreased level of plasminogen, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Flexion contracture, Decreased serum leptin |
OMIM:614098 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Hypospadias, Supernumerary nipple |
ORPHA:3224 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Congenital contracture, Hydrocephalus, Colpocephaly, Ventriculomegaly |
OMIM:620156 |
| Alkaptonuria |
|
Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density, Arthritis, Aminoa... |
ORPHA:56 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Micr... |
OMIM:619321 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Hypospadias, Severe generalized osteoporosis, Knee flexion contracture, Bladder ... |
OMIM:210730 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Joint hyperflexibility, Abnormality of female external genitalia, Truncal obe... |
ORPHA:2637 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity, Enuresis nocturna |
OMIM:619680 |
| Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Diabetes mellitus, Obesity |
ORPHA:563 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Hydrocephalus |
ORPHA:53271 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Abnormal circulating lipid concentration |
ORPHA:381 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral ref... |
ORPHA:3455 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Knee flexion contracture |
OMIM:603387 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Osteoarthritis, Cystocele, Osteolysis, Renovascular hypertension, Jo... |
ORPHA:286 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Tall stature, Adrenocortical cytomegaly, Elevated circulating alpha-fetopro... |
ORPHA:116 |
| Dpagt1-Cdg |
|
Failure to thrive, Flexion contracture, Osteoporosis, Camptodactyly |
ORPHA:86309 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Obesity |
ORPHA:163681 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, Aplasia of th... |
ORPHA:2437 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Congenital diaphragmatic hernia |
ORPHA:1647 |
| Trisomy 1Q |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalus, Ventriculom... |
ORPHA:261344 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly |
OMIM:616538 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:60040 |
| Alexander Disease |
|
Osteopenia, Diabetes mellitus, Aqueductal stenosis, Hydrocephalus, Self-injurious behavior, Dysph... |
ORPHA:58 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Hydrocephalus, Cranial hyperostosis, Decreased osteoclast count, ... |
OMIM:259720 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Increased bone mineral density |
ORPHA:1237 |
| Monosomy 13Q34 |
|
Fetal pyelectasis, Metrorrhagia, Hypercalcemia, Obesity |
ORPHA:96168 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Advanced ossification of carpal bones, Camptodactyly, Joint contrac... |
OMIM:224400 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, Choroid plexus cyst, Hydrocephalus, Ventriculomegaly |
OMIM:617866 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cholelithiasis, Cryptorchidism, Renal hypoplasi... |
ORPHA:567 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation, Camptodactyly |
OMIM:614846 |
| Xylt1-Cdg |
|
Joint laxity, Truncal obesity |
ORPHA:370930 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Hypoglycemia, Delayed epiphyseal ossification, Flexion contracture, Hydrocephalus |
OMIM:616007 |
| Walker-Warburg Syndrome |
|
Hydrocephalus, Abnormal circulating creatine kinase concentration, Ventriculomegaly, Dandy-Walker... |
ORPHA:899 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| White-Sutton Syndrome |
|
Joint laxity, Duplicated collecting system, Obesity |
ORPHA:468678 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
| Encephalocraniocutaneous Lipomatosis |
|
Subcutaneous lipoma, Hydrocephalus, Lipoma, Multiple central nervous system lipomas, Dandy-Walker... |
OMIM:613001 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
| Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Dandy-Walker malformation, Vent... |
OMIM:617822 |
| Sturge-Weber Syndrome |
|
Hyperostosis, Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:3205 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Cholesterol gallstones, H... |
ORPHA:209902 |
| 3C Syndrome |
|
Inguinal hernia, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:7 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Flexion contrac... |
OMIM:253800 |
| Pseudoaminopterin Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Cryptorchidism, Horseshoe kidney, Patchy reduc... |
ORPHA:221120 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Inguinal hernia, Hyperactivity, Aggressive behavior, Hypersexuality, H... |
ORPHA:581 |
| Angelman Syndrome |
|
Delayed menarche, Precocious puberty in females, Obesity |
ORPHA:72 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Congenital cont... |
OMIM:613150 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Hernia of the abdominal wall |
ORPHA:2184 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, Failure to thrive, Ventr... |
ORPHA:395 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Recurrent urinary tract infections, Decreased response to growth hormone stimulatio... |
OMIM:615873 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity |
OMIM:618443 |
| Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Dysphagia, Fasting hypoglycemia, Subependymal nodules, Ventriculomegaly |
ORPHA:25 |
| Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
| Crouzon Syndrome |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis, Hydrocephalus, Sagittal craniosynostosis |
OMIM:123500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Limited elbow extension, Obesity |
OMIM:301066 |
| Hurler Syndrome |
|
Inguinal hernia, Hydrocephalus, Flexion contracture, Cranial hyperostosis, Hernia, Calvarial hype... |
OMIM:607014 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Radial dysplasia |
OMIM:617244 |
| Desmosterolosis |
|
Increased bone mineral density, Hydrocephalus, Osteopetrosis, Failure to thrive, Ventriculomegaly |
ORPHA:35107 |
| Lateral Meningocele Syndrome |
|
Inguinal hernia, Hydrocephalus, Meningocele, Sclerosis of skull base, Umbilical hernia, Keloids |
OMIM:130720 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Aqueductal stenosis, Hydrocephalus, Self-injurious behavior, Frequent temper tantr... |
OMIM:619512 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Obesity |
OMIM:250420 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Hydrocephalus, Neonatal epiphyseal stippling, Epiphyseal stippling, Hy... |
OMIM:101800 |
| Peho Syndrome |
|
Arthrogryposis multiplex congenita, Hydrocephalus, Flexion contracture, Ventriculomegaly |
ORPHA:2836 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Umbilical hernia, Inguinal hernia, Hydrocephalus |
OMIM:601499 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Flexion contracture, Lambdoidal craniosynostosis, Camptodactyly, Coronal craniosyn... |
OMIM:207410 |
| Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:1834 |
| Tetrasomy 5P |
|
Pericallosal lipoma, Hydrocephalus, Failure to thrive |
ORPHA:3309 |
| Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Inguinal hernia, Craniosynostosis, Hydrocephalus, Minimal subcutaneous fat, Camptodac... |
OMIM:182212 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus, Camptodactyly of finger, Bicoronal synostosis |
OMIM:619951 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, ... |
OMIM:618653 |
| Iniencephaly |
|
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydr... |
ORPHA:63259 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hydrocephalus, Lateral ventricle dilatation, Osteopetrosis, ... |
OMIM:612301 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Obesity, Pineal cyst, Abnormal circulating creatine kina... |
ORPHA:98908 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Abnormality of the kidney, Decrease... |
ORPHA:177907 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Craniosynostosis, Osteoporosis, Disproportionate tall stature, Camptodactyly, Joint... |
OMIM:610168 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalu... |
OMIM:614643 |
| Bloom Syndrome |
|
Male infertility, Recurrent urinary tract infections, Diabetes mellitus, Small for gestational ag... |
ORPHA:125 |
| Monosomy 9Q22.3 |
|
Hyperactivity, Large for gestational age, Hydrocephalus, Umbilical hernia, Ventriculomegaly |
ORPHA:77301 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Elbow flexion contract... |
OMIM:181450 |
| Trisomy 17P |
|
Hydrocephalus, Flexion contracture |
ORPHA:261290 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Inguinal hernia, Abnormal dental enamel morphology, Ventriculomegaly |
ORPHA:1812 |
| Hydrolethalus |
|
Hydrocephalus, Anencephaly |
ORPHA:2189 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Joint stiff... |
ORPHA:1606 |
| Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hyd... |
ORPHA:401973 |
| Angelman Syndrome |
|
Obesity |
OMIM:105830 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
| Congenital Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Hydrocephalus |
ORPHA:93400 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Disinhibition, Holoprosencephaly |
ORPHA:2356 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Bifid scrotum, Osteomyelitis, Hypospadias, Overweight, Obesity, Hematuria, Hyperbil... |
OMIM:619475 |
| 1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Failure to thrive, Hydrocephalus, Attention deficit hyperactivity disorder |
ORPHA:250989 |
| Holoprosencephaly |
|
Hyponatremia, Encephalocele, Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in i... |
ORPHA:2162 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Hydrocephalus, Knee flexion contracture, Sclerosis of skull base, Delayed pubi... |
OMIM:618162 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Camptodactyly of finger, Spina bifida |
ORPHA:2839 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Encephalocele, Increased bone mineral density, Camptodactyly of finger, Myelomeningo... |
ORPHA:90652 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Reduced bone mineral density |
ORPHA:2720 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Umbilical hernia, Hydrocephalus, Craniosynostosis |
ORPHA:1555 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Horses... |
ORPHA:444077 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Communicating hydrocephalus, Inguinal hernia, Subperiosteal bone formation, Umbilical... |
OMIM:618188 |
| Myhre Syndrome |
|
Vertebral fusion, Small for gestational age, Joint stiffness, Cryptorchidism, Limitation of joint... |
OMIM:139210 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Me... |
OMIM:236670 |
| Pfeiffer Syndrome |
|
Coronal craniosynostosis, Hydrocephalus |
OMIM:101600 |
| Raine Syndrome |
|
Increased bone mineral density, Hydrocephalus, Subperiosteal bone formation, Hypophosphatemia, Ar... |
OMIM:259775 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hydrocephalus, Hyperammonemia, Elevated ... |
ORPHA:79282 |
| 1P21.3 Microdeletion Syndrome |
|
Obesity, Joint hypermobility |
ORPHA:293948 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Failure to thrive, Hydrocephalus, Tongue thrusting |
OMIM:115150 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Hydrocephalus |
OMIM:618590 |
| Adnp Syndrome |
|
Joint laxity, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Truncal o... |
ORPHA:404448 |
| Mucopolysaccharidosis, Type Ii |
|
Umbilical hernia, Inguinal hernia, Flexion contracture, Hydrocephalus |
OMIM:309900 |
| Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Multiple joint contractures, Hydrocephalus, Attention deficit hyperactivity diso... |
OMIM:305450 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Enuresis, Failure to thrive, Abnormality of the pineal gland, Obesity |
ORPHA:369950 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly |
OMIM:313850 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, ... |
OMIM:277400 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Flexion contracture |
ORPHA:1865 |
| 6Q Terminal Deletion Syndrome |
|
Joint laxity, Hypospadias, Phimosis, Obesity, Failure to thrive |
ORPHA:75857 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Delayed ossification of carpal bones |
OMIM:239300 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypospadias, Small for gestational age, Cryptorchidism, Flexion contracture... |
OMIM:264090 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Failure to thrive |
ORPHA:974 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decreased ... |
OMIM:188400 |
| Pentalogy Of Cantrell |
|
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly |
ORPHA:1335 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand, Decreased body weight |
OMIM:182250 |
| Carpenter Syndrome 2 |
|
Craniosynostosis, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Obesity, Knee f... |
OMIM:614976 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:2075 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Hydrocephalus |
ORPHA:3301 |
| Pseudotrisomy 13 Syndrome |
|
Omphalocele, Hydrocephalus, Encephalocele, Holoprosencephaly |
OMIM:264480 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Umbilical hernia |
OMIM:613776 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Craniosynostosis |
ORPHA:1064 |
| Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Communicating hydrocephalus, Inguinal hernia, Camptodactyly of finger, Craniosynostos... |
ORPHA:2462 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Sacral lipoma |
OMIM:600145 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Obesity, Primary amenorrhea |
ORPHA:319675 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Nephrolithiasis, O... |
ORPHA:353281 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Failure to thrive |
OMIM:608091 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive ... |
ORPHA:70591 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Cryptorchidism, Obesity |
OMIM:616078 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:475 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Failure to thrive, Hydrocephalus, Craniofacial osteosclerosis, Spina bifida occulta,... |
OMIM:300373 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
| Apert Syndrome |
|
Craniosynostosis, Sagittal craniosynostosis, Delayed epiphyseal ossification, Hydrocephalus, Lamb... |
OMIM:101200 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Hydrocephalus |
ORPHA:2736 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Dilatation of renal calices, Truncal obesity, Pelvic kidney, Obesity |
ORPHA:466950 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Inguinal hernia, Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity |
ORPHA:2822 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Hydrocephalus |
ORPHA:3412 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Ab... |
ORPHA:580 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
| 15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Craniosynostosis, Hydrocepha... |
ORPHA:314585 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220493 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus, Abnormal repetitive mannerisms |
ORPHA:300570 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Elevated circulating crea... |
OMIM:615287 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hydrocephalus, Small for gestational age, Ventriculomegaly, Dandy-Walker malformation |
OMIM:257300 |
| Retinitis Pigmentosa 74 |
|
Abnormal renal morphology, Obesity |
OMIM:616562 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal obesity, Flexion contracture, Limb joint contracture |
OMIM:301072 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly |
OMIM:616546 |
| Mucopolysaccharidosis, Type Vii |
|
Umbilical hernia, Hydrocephalus, Flexion contracture |
OMIM:253220 |
| Marshall-Smith Syndrome |
|
Omphalocele, Large sternal ossification centers, Craniosynostosis, Hydrocephalus, Decreased body ... |
OMIM:602535 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly, Craniosynostosis |
OMIM:123790 |
| Rubinstein-Taybi Syndrome 1 |
|
Joint laxity, Hypospadias, Small for gestational age, Premature thelarche, Bilateral cryptorchidi... |
OMIM:180849 |
| Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Aggressive behavior, Hydrocephalus, Epiphyseal stippling, Colpocephaly, Hypoalbumi... |
OMIM:270400 |
| Icf Syndrome |
|
Communicating hydrocephalus, Umbilical hernia |
ORPHA:2268 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Inguinal hernia, Hydrocephalus |
ORPHA:1454 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
| Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Aqueductal stenosis, Hydrocephalus, Recurrent hypoglycemia, Ventri... |
OMIM:620305 |
| 17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Secondary am... |
ORPHA:529962 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
| Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Flexion contracture, Hypoalbuminemia, Hernia |
ORPHA:505248 |
| Monosomy 18Q |
|
Hydrocephalus, Failure to thrive, Slender build |
ORPHA:1600 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Joint stiffn... |
ORPHA:199 |
| Aymé-Gripp Syndrome |
|
Inguinal hernia, Craniosynostosis, Congenital diaphragmatic hernia, Hydrocephalus, Camptodactyly,... |
ORPHA:1272 |
| Dubowitz Syndrome |
|
Hydrocephalus, Spina bifida occulta, Craniosynostosis, Attention deficit hyperactivity disorder |
ORPHA:235 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:616482 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating... |
ORPHA:805 |
| Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Hydrocephalus, Hernia |
ORPHA:579 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptor... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptor... |
ORPHA:353277 |
| Witteveen-Kolk Syndrome |
|
Joint laxity, Hypospadias, Small for gestational age, Decreased response to growth hormone stimul... |
OMIM:613406 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Craniosynostosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:605627 |
| Cousin Syndrome |
|
Hydrocephalus, Camptodactyly, Hydranencephaly, Joint contracture of the hand, Wrist flexion contr... |
OMIM:260660 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus, Inguinal hernia, Hypocalcemia |
ORPHA:2306 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Spina bifida, Craniosynostosis, Hydrocephalus, Inappropriate laughter,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Spina bifida, Craniosynostosis, Hydrocephalus, Inappropriate laughter,... |
ORPHA:363958 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
| Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Dilatation of renal calices, Pelvic kidney, Obesity |
ORPHA:466943 |
| Mend Syndrome |
|
Hyperactivity, Hydrocephalus, Failure to thrive, Dandy-Walker malformation |
OMIM:300960 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Hydrocephalus, Attention deficit hyperactivity disorder, Arthrogryposis ... |
ORPHA:2461 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Hydrocephalus |
OMIM:104350 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Encephalocele, Hydrocephalus, Holoprosencephaly, Umbilical hernia |
ORPHA:2166 |
| Hurler Syndrome |
|
Hydrocephalus, Camptodactyly of finger, Hernia |
ORPHA:93473 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Jacobsen Syndrome |
|
Failure to thrive, Hydrocephalus, Flexion contracture, Holoprosencephaly |
OMIM:147791 |
| Holoprosencephaly 7 |
|
Omphalocele, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly,... |
OMIM:610828 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Hydrocephalus, Reduced bone mineral density, Osteopetrosis, Hypocalcemia, Hypop... |
ORPHA:667 |
| Cardiofaciocutaneous Syndrome |
|
Hydrocephalus, Failure to thrive in infancy |
ORPHA:1340 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Abnormal dental enamel morphology |
ORPHA:2050 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Camptodactyly of finger, Abnormal external genitalia, Ectopic kidney, Cryptorchidism... |
OMIM:607872 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Pseudohypoparathyroidism, Renal hypoplasia, Obesity, Failure ... |
OMIM:617157 |
| Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Small for gestational age, Attention deficit hyperactivity disorder |
OMIM:227646 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Obesity, Hypogonadism, Vesicoureter... |
OMIM:309580 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Camptodactyly o... |
OMIM:249000 |
| Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Hydrocephalus, Flexion contracture, Cervical myelopathy, Umbilical hernia |
OMIM:253200 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Cachexia |
ORPHA:220295 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Failure to thrive, Hypoglycemia |
ORPHA:137675 |
| Hypoplasminogenemia |
|
Hydrocephalus, Decreased level of plasminogen, Dandy-Walker malformation |
ORPHA:722 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Irregular ossification of hand bones, Spina bifida |
OMIM:109400 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Attention deficit hyperactivity disorder |
OMIM:614083 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Ivory epiphyses of the phalanges of the han... |
OMIM:216400 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Absent sternal ossification, Spina bifida, Contracture of the... |
OMIM:114290 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity |
OMIM:614947 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:268249 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration |
ORPHA:66529 |
| Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:1780 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Hypoglycorrhachia, Communicating hydrocephalus |
ORPHA:168577 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Reduced bone mineral density, Weight loss, Umbilical hernia, Ventric... |
ORPHA:84 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus, Neonatal hypoglycemia |
OMIM:261740 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Neural tube defect, Attention deficit hyperactivity disorder,... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Neural tube defect, Attention deficit hyperactivity disorder,... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Neural tube defect, Attention deficit hyperactivity disorder,... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Neural tube defect, Attention deficit hyperactivity disorder,... |
ORPHA:220386 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Delayed epiphyseal ossification, Flexion contractu... |
OMIM:210710 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Camptodactyly of toe, Hydrocephalus, Camptodactyly of finger, Attention deficit hyperactivity dis... |
ORPHA:261337 |
| Trisomy 8P |
|
Dandy-Walker malformation, Multiple joint contractures, Hydrocephalus, Hernia |
ORPHA:264450 |
| Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
| Monosomy 22Q13.3 |
|
Obesity, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia |
ORPHA:48652 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly, Large for gestational age, Slender build, Neonatal... |
ORPHA:457359 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Hydrocephalus, Congenital diaphragmatic hernia |
OMIM:309801 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Limb Body Wall Complex |
|
Ventral hernia, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, H... |
ORPHA:2369 |
| Costello Syndrome |
|
Hypoglycemia, Achilles tendon contracture, Hydrocephalus, Failure to thrive, Ventriculomegaly |
OMIM:218040 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Craniosynostosis, Hydrocephalus, ... |
OMIM:612289 |
| Stromme Syndrome |
|
Hydrocephalus |
OMIM:243605 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Failure to thrive |
OMIM:306955 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Congenital diaphragmatic hernia |
OMIM:154400 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Hydroceph... |
OMIM:208150 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Orofaciodigital Syndrome I |
|
Enamel hypoplasia, Myelomeningocele, Hydrocephalus |
OMIM:311200 |
| Tetrasomy 9P |
|
Hyperactivity, Abnormal dental enamel morphology, Hydrocephalus, Inappropriate behavior, Umbilica... |
ORPHA:3310 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Dysphagia |
ORPHA:637 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal temper tantrums, Hydrocephalus, Cachexia, Ventriculomegaly |
ORPHA:2072 |
| Meckel Syndrome |
|
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Truncal obesity, Camptodactyly, Failure to thrive, Joint hypermobility |
OMIM:612474 |
| Neurofibromatosis Type 1 |
|
Multiple lipomas, Hydrocephalus, Attention deficit hyperactivity disorder |
ORPHA:636 |
| Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Hydrocephalus, Abnormal sternal ossification, Failure to thrive, Abnor... |
OMIM:194190 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... |
OMIM:619534 |
| Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly, Large for gestational age |
OMIM:617011 |
| Microphthalmia With Limb Anomalies |
|
Failure to thrive, Hydrocephalus, Camptodactyly of 2nd-5th fingers |
ORPHA:1106 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus |
OMIM:616084 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Aplasia of the right hemidiaphragm, Aggressive behavior, Mild fetal ... |
OMIM:619841 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly |
OMIM:253280 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus, Shagreen patch |
ORPHA:538 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Failure to thrive, Abnormal dental enamel morphology, Congenital diaphragmatic hernia |
ORPHA:2556 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Bone cyst, Attention deficit hyperactivity disorder |
ORPHA:363700 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Lipoma |
ORPHA:573278 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Hydrocephalus, Myel... |
OMIM:305600 |
| Baller-Gerold Syndrome |
|
Craniosynostosis, Sagittal craniosynostosis, Hydrocephalus, Lambdoidal craniosynostosis, Coronal ... |
OMIM:218600 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Yunis-Varon Syndrome |
|
Decreased skull ossification, Hydrocephalus, Absent sternal ossification, Severe failure to thrive |
ORPHA:3472 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus, Craniosynostosis, Camptodactyly |
OMIM:609192 |
| Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
| Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Spina bifida, Hydrocephalus, Sclerosis of skull base, Nonossified... |
OMIM:304120 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Flexion contracture, Obesity, R... |
OMIM:601803 |
| Oeis Complex |
|
Omphalocele, Myelomeningocele, Hydrocephalus |
OMIM:258040 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus, Congenital diaphragmatic hernia |
OMIM:273395 |
| Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Hydrocephalus |
OMIM:219000 |
| Peters Plus Syndrome |
|
Inguinal hernia, Hydrocephalus, Umbilical hernia, Spina bifida occulta, Ventriculomegaly |
ORPHA:709 |
| Peters-Plus Syndrome |
|
Craniosynostosis, Hydrocephalus, Decreased body weight, Umbilical hernia, Ventriculomegaly |
OMIM:261540 |
| Coffin-Siris Syndrome 12 |
|
Failure to thrive, Abnormal repetitive mannerisms, Noncommunicating hydrocephalus |
OMIM:619325 |
| Exstrophy-Epispadias Complex |
|
Omphalocele, Inguinal hernia, Spina bifida, Hydrocephalus, Cystocele |
ORPHA:322 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hydrocephalus, Two carpal ossification centers ... |
OMIM:312870 |
| Townes-Brocks Syndrome 1 |
|
Umbilical hernia, Hydrocephalus, Small for gestational age, Holoprosencephaly |
OMIM:107480 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus, Elevated circulating creatine kinase concentration |
OMIM:175780 |
| Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
| Roberts-Sc Phocomelia Syndrome |
|
Craniosynostosis, Ankle flexion contracture, Hydrocephalus, Frontal encephalocele, Elbow flexion ... |
OMIM:268300 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Dandy-Walker malformation, Anencephaly, Severe hydrocephalus |
OMIM:236680 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:164210 |
