Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Ptosis, Highly arched eyebrow, Synophrys, Anosmia, Blepharophimosis, Thick eyebrow, Abnormal cran... |
ORPHA:2057 |
Bardet-Biedl Syndrome 11 |
|
Retinopathy, Hypogonadism, Obesity |
OMIM:615988 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Ptosis, Synophrys, Anosmia, Wide nasal bridge, Blepharophimosis, Thick eyebrow, Frontalis muscle ... |
OMIM:210745 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Absence of pu... |
OMIM:610628 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Torticollis, Azoospermia, Intention tremor, Head tremo... |
OMIM:613724 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... |
OMIM:146110 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment |
OMIM:302950 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Hyperostosis Cranialis Interna |
|
Abnormal vestibular function, Facial palsy, Sensorineural hearing impairment, Anosmia, Optic atro... |
OMIM:144755 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Obesity, Hypogonadism, Macular dystrophy, Micropenis, Rod-cone dystr... |
OMIM:615983 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Bardet-Biedl Syndrome 10 |
|
Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity |
OMIM:615987 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Sensorineural hearing impairment, Anosmia |
OMIM:612370 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... |
OMIM:615990 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia, Hearing impairment |
OMIM:615266 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia, Hearing impairment |
OMIM:615267 |
Peroxisome Biogenesis Disorder 9B |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Anosmia, Total anosmia |
OMIM:614879 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Emotional lability, Obesity, Cryptorchidism |
OMIM:309585 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment, Retinal degeneration |
OMIM:238340 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Anosmia, Rod-cone dystrophy, Retinal degeneration, Ptosis |
OMIM:266500 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Azoospermia, Hypertens... |
OMIM:615703 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Ataxia,... |
OMIM:308700 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Choanal atresia, Facial palsy, Absent eyelashes, Bulbous nose, Anosmia, Protrudin... |
ORPHA:2316 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia, Hearing impairment |
OMIM:615271 |
Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration, Spina bifida, Ptosis |
OMIM:311000 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Dilated cardiomyopathy, Obesity, Hypogonadism, Ro... |
OMIM:615981 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Cryptorchidism, Sensorineural hearing impairment, Anosmia |
OMIM:612702 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Ataxia, Decreased response to growth hormone stimulation test, Cryptor... |
ORPHA:3363 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Obesity, Myocardial infarction |
OMIM:608320 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal d... |
OMIM:615982 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Small for gestational age, Decreased response to growth hormone stimulation ... |
OMIM:275400 |
Huntington Disease |
|
Abnormal libido, Inability to walk, Depression, Bradykinesia, Irritability, Weight loss, Abnormal... |
ORPHA:399 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Bifid nose, Decreased testicular size |
OMIM:614838 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin, Hyposmia |
OMIM:617885 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent upper respiratory tract infections, Obesity, Primary amenorrhea... |
OMIM:614962 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:614858 |
Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Anosmia, Hypos... |
OMIM:615994 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotrop... |
OMIM:308750 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615995 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Cryptorchidism, Anosmia, Hearing impairment |
OMIM:244200 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... |
OMIM:618144 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, External genital hypoplasia, Obesity, Hypogonadism, Hyposmia, Rod-cone d... |
OMIM:615996 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... |
OMIM:617879 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... |
OMIM:616030 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Narcolepsy Type 1 |
|
Syncope, Obesity |
ORPHA:2073 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Cryptorchidism, Sensorineural hearing impairment, Anosmia, Hyposmia |
OMIM:147950 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Decreased... |
OMIM:614841 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Telecanthus, Synophrys, Anosmia, Abnormal nostril morphology, Short nose |
ORPHA:1295 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Bulbous nose, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicu... |
ORPHA:261483 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Optic atrophy, Depression, Irritability, Macular degeneration, Retinal degeneration |
OMIM:256730 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal |
OMIM:607842 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Anosmia, Retinopathy, Ptosis |
ORPHA:773 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... |
OMIM:618841 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Absence of pubertal development, Decrease... |
OMIM:614837 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity |
ORPHA:436141 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Childhood-onset truncal obesity |
ORPHA:71529 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Pigmentary retinopathy, ... |
OMIM:520000 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Hyposmia, Abnormal autonomic nervous system physiology, Anosmia, Abnormal nerve conduction velocity |
OMIM:243000 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis... |
OMIM:244400 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy |
OMIM:617119 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Holoprosencephaly |
|
Synophrys, Depressed nasal ridge, Absent nares, Holoprosencephaly, Chorioretinal coloboma, Enceph... |
ORPHA:2162 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Broad nasal tip... |
OMIM:300148 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Anteverted nares, Abnormal retinal vasc... |
ORPHA:791 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615984 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Loss of ambulation, ... |
OMIM:204200 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:614880 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Morm Syndrome |
|
Truncal obesity, Micropenis, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity, Depression, Focal sensory seizure with olfactory features, Abnormal emotion... |
ORPHA:238624 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Ataxia, Retinal dystrophy, Inability to walk, Obesity |
OMIM:616756 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Ataxia, Obesity |
OMIM:620270 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear-induced behavior, Congestive heart failure, Obesity, Irritability... |
ORPHA:3077 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... |
OMIM:147250 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism |
OMIM:261550 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity |
ORPHA:3055 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... |
OMIM:614842 |
8P11.2 Deletion Syndrome |
|
Epicanthus, Depressed nasal bridge, Retinal dystrophy, External ear malformation, Cryptorchidism,... |
ORPHA:251066 |
Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Overweight, ... |
OMIM:617406 |
Marcus-Gunn Syndrome |
|
Unilateral ptosis, Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Choanal atre... |
ORPHA:91412 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age |
OMIM:240900 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Kufor-Rakeb Syndrome |
|
Torticollis, Tremor, Anosmia, Dystonia, Hyposmia |
OMIM:606693 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Hernández-Aguirre Negrete Syndrome |
|
Bulbous nose, Obesity, Delayed puberty |
ORPHA:2139 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... |
ORPHA:1135 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Cryptorchidism, Sensorineural hearing impa... |
OMIM:613266 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... |
OMIM:614839 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Cryptorchidism, Obesity, Retinal coloboma, Hypogonadism, Rod-cone dy... |
ORPHA:363741 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Retinal degeneration |
OMIM:204500 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Depressed nasal bridge, Macular coloboma, Abnormal auditory evoked potentials,... |
OMIM:619260 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Central hypothyroidism, Abn... |
OMIM:616113 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Retinal dystrophy, Childhood-onset truncal obesity |
OMIM:610156 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Laurence-Moon Syndrome |
|
Small scrotum, Ataxia, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Micropenis |
OMIM:245800 |
Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity, Underdeveloped nasal alae |
OMIM:300872 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Obesity |
OMIM:300577 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Adiposis Dolorosa |
|
Obesity, Depression |
OMIM:103200 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Bardet-Biedl Syndrome 8 |
|
Rod-cone dystrophy, Hypogonadism, Obesity, Hypospadias |
OMIM:615985 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulin... |
ORPHA:3085 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Bulbous nose... |
OMIM:300869 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Gorlin Syndrome |
|
Epicanthus, Telecanthus, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of the sen... |
ORPHA:377 |
Developmental And Epileptic Encephalopathy 28 |
|
Epicanthus, Optic atrophy, Anteverted nares, Retinal degeneration |
OMIM:616211 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Obesity, Macular degeneration, Tip-toe gait, Spastic gait, Retinal degeneration |
OMIM:604360 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Obesity,... |
ORPHA:2234 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Cryptorchidism, Sensorineural hearing impairment, ... |
ORPHA:3157 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Wide nose, Obesity, Depression |
ORPHA:276630 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
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 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Rod-co... |
OMIM:615986 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Diabetes mellitus, Ataxia, Cryptorchidism, Optic atrophy, Cardiomyopathy... |
OMIM:249270 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e... |
OMIM:609136 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Loss of ambulation, Retinal degeneration |
OMIM:256731 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Reduced sperm m... |
OMIM:602271 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... |
ORPHA:85282 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Broad nasal tip, Cryptorchidism, Truncal obesity, Emotional lability |
ORPHA:3459 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Retinal degeneration |
OMIM:257970 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Ataxia |
ORPHA:85334 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Hsd10 Mitochondrial Disease |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal mitochondrial morphology, Choreoathetos... |
OMIM:300438 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Failure to thrive in infancy, Obesity, Broad nasal tip |
OMIM:613670 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Abnormal testis morphology, Hypogonadism, Obesity |
ORPHA:2233 |
Chromosome Xq21 Deletion Syndrome |
|
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration |
OMIM:303110 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, External genital hypoplasia, Obesity, Pigmentary retinopathy, Rod-cone d... |
OMIM:600151 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Alg6-Cdg |
|
Ataxia, Puberty and gonadal disorders, Rod-cone dystrophy, Increased circulating androgen concent... |
ORPHA:79320 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Obesity |
OMIM:300209 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Underdeveloped nasal alae, Patchy atrophy of the retinal pigment epithelium, Ro... |
ORPHA:436245 |
Joubert Syndrome 15 |
|
Retinopathy, Retinal dystrophy, Exencephaly |
OMIM:614464 |
Temple Syndrome |
|
Wide nose, Small for gestational age, Anteverted nares, Maturity-onset diabetes of the young, Dep... |
OMIM:616222 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:608895 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Optic atrophy, Obesity, Mitral regurgitation, Pulmonary arteria... |
OMIM:614651 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
11P15.4 Microduplication Syndrome |
|
Anteverted nares, Obesity |
ORPHA:300305 |
8Q21.11 Microdeletion Syndrome |
|
Ptosis, Wide nose, Epicanthus, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sens... |
ORPHA:284160 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Ataxia, Cryptorchidism, Obesity, Type II diabetes mellitus, Displacement of ... |
ORPHA:2377 |
Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Choanal atresia, Absent tragus, Cryptorchidism, Synophrys, Anosmia, La... |
OMIM:603457 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Depression, Bradykinesia, Weight loss, Shuffling gait, Low frustration tolerance, Hypos... |
ORPHA:411602 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Overgrowth, Obesity |
OMIM:620195 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Ataxia, Unsteady gait, Obesity, Loss of ambulation |
OMIM:618124 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Obesity, Hypotension |
ORPHA:369873 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Pigmentary retinopathy, Rod... |
OMIM:605231 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Arrhythmia, Premature ovarian insufficiency, Gait disturbance |
ORPHA:2928 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Kleine-Levin Syndrome |
|
Irritability, Decreased libido, Parosmia, Depression |
ORPHA:33543 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis |
OMIM:301900 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the... |
ORPHA:2189 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
Spinocerebellar Ataxia 7 |
|
Tremor, Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Sensorineural hearing impairment, Retinal degeneration, Opisthotonus |
OMIM:616896 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Chorioretinal hypopigmentation, ... |
ORPHA:398079 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Dystonia |
OMIM:252650 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Bulbous nose, Obesity |
OMIM:300238 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Cryptorchidism, Obesity, Depression,... |
ORPHA:10 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cr... |
ORPHA:2326 |
Charge Syndrome |
|
Aqueductal stenosis, Eyelid coloboma, Hypoplasia of the semicircular canal, Holoprosencephaly, Ch... |
ORPHA:138 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Obesity, Macular degeneration, Hypogonadism, Rod-cone dystrophy |
OMIM:616629 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Diabetes mellitus, Ataxia, Retinal dystrophy, Nephrogeni... |
OMIM:209900 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Prominent nasal bridge, Cryptorchidism, Obesity, Hypertension, Pigmentary re... |
ORPHA:110 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Obesity, Choreoathetosis, Bradykinesia, Male hypogonadism, Shuffling gait, Macroorchidism... |
OMIM:300055 |
Young-Onset Parkinson Disease |
|
Depression, Bradykinesia, Male sexual dysfunction, Gait imbalance, Hyposmia, Female sexual dysfun... |
ORPHA:2828 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Scheie Syndrome |
|
Wide nose, Depressed nasal bridge, Retinal degeneration |
OMIM:607016 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Depression, Pigmentary retinopathy, Loss of ambulation, Emotional... |
ORPHA:79264 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Retinal dystrophy, Puberty and gonadal disorders, Unsteady gait, Obesity, ... |
ORPHA:464282 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Rod-cone dystrophy, Retinal atrophy, Wide nasal bridge, Low-set ears |
OMIM:610127 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Anteverted nares, Obesity, Broad nasal tip |
ORPHA:1193 |
Rafiq Syndrome |
|
Wide nose, Ataxia, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity, Truncal obesity, Und... |
OMIM:614202 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Depressed nasal bridge, Hypospadias, Cryptorchidism, Bulbous nose, Gait ataxia, Abdominal obesity... |
OMIM:300354 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Prominent nose, Optic atrophy, Retinopathy |
OMIM:616171 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Small for gestational age, Anteverted nares, Maturity-onset diabetes of the young, Dep... |
ORPHA:96184 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature |
ORPHA:3000 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Depression, Truncal obesity, Incre... |
OMIM:219080 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Mixed hearing impairment, Absent lacrimal punctum, Abnormal pinna morphol... |
ORPHA:2363 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Cryptorchidism, Depression, Truncal obesity... |
OMIM:300957 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Rod-cone dystrophy, Obesity |
OMIM:615633 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital stationary night blindness, Wide nasal bridge, Obesity, Congenital hypothyroidism |
ORPHA:352530 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Short nose, Gait disturbance |
ORPHA:2429 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesi... |
OMIM:619737 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Chung-Jansen Syndrome |
|
Cryptorchidism, Short nose, Anteverted nares, Obesity |
OMIM:617991 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Superficial Siderosis |
|
Partial anosmia, Vertigo, Anosmia, Abnormality of the vestibulocochlear nerve, Abnormality of the... |
ORPHA:247245 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Underdeveloped nasal alae, Sparse eyebrow, Rod-cone dystrophy, Hypoautofluoresc... |
OMIM:250410 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Anteverted nares, Depressed nasal bridge, Hypospadias, Cryptorchidism, Obesity... |
OMIM:614613 |
Trisomy 5P |
|
Hypoplasia of penis, Obesity |
ORPHA:1742 |
Congenital Myopathy 9A |
|
Cryptorchidism, Obesity, Akinesia |
OMIM:618822 |
Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabetic ketoacidosi... |
OMIM:615238 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:329249 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia |
ORPHA:177910 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Anteverted nares, Depressed nasal bridge, Bulbous nose, Obesity |
ORPHA:171829 |
Pai Syndrome |
|
Encephalocele, Telecanthus, Nasal polyposis, Depressed nasal bridge, Midline defect of the nose, ... |
ORPHA:1993 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Underdeveloped nasal alae, Absent eyelashes, Cryptorchidism, Rod-cone dystrophy, ... |
ORPHA:166035 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptorchidism, Depressed nasal ridge, Ob... |
ORPHA:96263 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Anosmia, Single naris, Absent nares, Hyposmia |
ORPHA:2250 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Tremor, Optic atrophy, Downslanted palpebral fissures, Retinal degeneration, Ptosis |
ORPHA:442835 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... |
OMIM:600955 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Posteriorly rotated ears, Depressed nasal ridge, Wide nasal bridge, Exencephaly, E... |
ORPHA:2211 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Re... |
ORPHA:364055 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Obesity |
ORPHA:444002 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia, Abnormality of the sense of smell |
ORPHA:3201 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Bulbous nose, Obesity |
ORPHA:85286 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Summitt Syndrome |
|
Wide nose, Depressed nasal ridge, Obesity, Tall stature |
ORPHA:3210 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Hyperins... |
ORPHA:276608 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Obesity, Micropenis, Short... |
ORPHA:171839 |
Clark-Baraitser syndrome |
|
Anteverted nares, Broad nasal tip, Obesity, Macroorchidism, Tall stature |
OMIM:300602 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Wide nose, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity |
ORPHA:893 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy, Unsteady gait, Limb ataxia, Gait disturbance, Hypogonadism, Difficulty walking, ... |
ORPHA:412057 |
Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis, Wide nasal bridge |
ORPHA:2477 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Obesity, Short nose, Low hanging columella |
OMIM:617752 |
14Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Hypothyroidism, Obesity |
ORPHA:261229 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep... |
ORPHA:52427 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Ataxia, Macular degeneration, Emotional lability, Spastic gait, Retinal degeneration |
OMIM:270700 |
Cornelia De Lange Syndrome 5 |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip, Cryptorchidism... |
OMIM:300882 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... |
OMIM:274300 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Ataxia, Abnormal sperm head morphology, Infertility, Difficulty walking, Trunca... |
ORPHA:320391 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia, Resting tremor |
OMIM:607060 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Ataxia, Obesity, Telangiectasia |
ORPHA:459033 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
Hsd10 Disease, Infantile Type |
|
Optic atrophy, Choreoathetosis, Dystonia, Rod-cone dystrophy, Retinal degeneration, Hearing impai... |
ORPHA:391428 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Bulbous nose, Obesity |
ORPHA:480907 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide nasal base, Wide nasal bridge, Obesity |
OMIM:616521 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Obesity, Increased circulating ACTH level, Hypertension, Abdominal obesity, Ol... |
OMIM:219090 |
Baralle-Macken Syndrome |
|
Inability to walk, Obesity |
OMIM:619255 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Depression, Hypertension, Increase... |
OMIM:615830 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:618736 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance |
ORPHA:93952 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy |
OMIM:615147 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Inability to walk, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
OMIM:615547 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98754 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Overweight, Inability to walk, Obesity, Gait disturbance, Emotio... |
ORPHA:2822 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Depressed nasal... |
ORPHA:94065 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... |
OMIM:270200 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail... |
OMIM:264800 |
Joubert Syndrome 37 |
|
Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, Obesity, Micropenis, Decreased te... |
OMIM:619185 |
Immunodeficiency 61 |
|
Obesity, Recurrent sinusitis |
OMIM:300310 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Ataxia, Obesity |
ORPHA:411515 |
Aromatase Deficiency |
|
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Anteverted nares, Abnormality of the endocrine system, Cryptorchidism, Depressed nasal ridge, Obe... |
ORPHA:464288 |
Moebius Syndrome |
|
Epicanthus, Facial palsy, Hearing impairment, Abnormality of the sense of smell, Blepharitis, Ptosis |
ORPHA:570 |
Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Obesity, Arrhythmia, Hypoth... |
OMIM:600430 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Prominent nasal bridge, Cryptorchidism, Obesity, Hypogonadism |
ORPHA:3409 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98793 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body weight, Congen... |
OMIM:614450 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Laron Syndrome |
|
Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Abnormality... |
ORPHA:633 |
Xq21 Microdeletion Syndrome |
|
Ataxia, Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Abnorm... |
ORPHA:1435 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia, Sensorineural hearing impairment |
OMIM:616488 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177901 |
Pseudohypoparathyroidism, Type Ic |
|
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Obesity, ... |
OMIM:612462 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Anosmia |
OMIM:619718 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Abnormal circulating insulin concentration, Large for gestational age |
ORPHA:293964 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Obesity, Short nose |
OMIM:611936 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Depressed nasal bridge, Ataxia, Prominent nose, Bulbous nose, Obesity, Prominent nasal tip, Under... |
OMIM:620191 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium, ... |
ORPHA:1433 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Hypertension, Obesity, Myocardial infarction |
OMIM:618620 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
External genital hypoplasia, Broad nasal tip, Bulbous nose, Unsteady gait, Dysmetria, Truncal obe... |
ORPHA:3041 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Hypoplasia of penis, Anteverted nares, Cryptorchidism, Obesity, Depression,... |
ORPHA:96147 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Holoprosencephaly 5 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:609637 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Arrhythmia, Anteverted nares, Obesity |
ORPHA:3191 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Distal 16P11.2 Microdeletion Syndrome |
|
Rod-cone dystrophy, Prominent nasal bridge, Retinal dystrophy, Obesity |
ORPHA:261222 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Intention tremor, Macular degeneration, Tortuosity of conjunctival vessels, Ptosis |
ORPHA:284289 |
Pseudopseudohypoparathyroidism |
|
Depressed nasal bridge, Obesity, Pseudohypoparathyroidism |
OMIM:612463 |
Aceruloplasminemia |
|
Blepharospasm, Torticollis, Retinal degeneration |
OMIM:604290 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Chorioret... |
ORPHA:398069 |
Smith-Magenis Syndrome |
|
Retinal detachment, Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Preco... |
ORPHA:819 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Obesity |
OMIM:619854 |
Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Hypospadias, Prominent nose, Cryptorchidism, Obesity, Elevated circulatin... |
ORPHA:439822 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Hypergonadotropic hypogonadism, Decreased response to growth hormone sti... |
OMIM:203800 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Downslanted palpebral fissures, Abnormality of the sense of smell |
ORPHA:958 |
Wagro Syndrome |
|
Obesity, Hypertension, Low frustration tolerance, Emotional lability, Hypoplastic female external... |
OMIM:612469 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Abdominal obesity, Diabetes mellitus |
OMIM:615980 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:616034 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Anteverted nares, Posteriorly rotated ears, Synophrys, Protruding ear... |
OMIM:618479 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Macular degeneration, Choroidal neovascularization, Dystonia |
ORPHA:404451 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Congenit... |
ORPHA:8 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Obesity, Heart murmur, Difficulty walking, Hyposmia, Micropenis |
OMIM:618653 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Prominent nose, Obesity, Failure to thrive, Convex nasal ridge, Low hanging columella |
OMIM:610543 |
13Q12.3 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Cryptorchidism, Obesity, Low insertion of columella, Failure to thrive |
ORPHA:412035 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Convex nasal ridge, Anteverted nares, Obesity |
ORPHA:1035 |
X-Linked Intellectual Disability, Stevenson Type |
|
Thick nasal alae, Obesity, Tall stature, Broad columella |
ORPHA:85325 |
Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Penile freckling, Large for gestational age, Obesity, Hydrocele testis, O... |
OMIM:605309 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity, Retinal degeneration |
OMIM:615630 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Abnormal nasal bone morphol... |
ORPHA:54595 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:98855 |
Hurler Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Bilateral ptosis, Hydrocephalus, Wide ... |
OMIM:607014 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Ataxia, Bulbous nose, Obesity, Short nose, Tall stature |
OMIM:618430 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity |
ORPHA:2180 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:616602 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Aortic regurgitation, Anteverted nares, Hypospadias, Precocious puberty, Cry... |
ORPHA:254346 |
Charge Syndrome |
|
Mixed hearing impairment, Choanal atresia, Facial palsy, Aplasia of the semicircular canal, Crypt... |
OMIM:214800 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Head titubation, Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Ataxia, Prominent nasal bridge, Broad nasal tip, Long nose, ... |
OMIM:616541 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:98853 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Broad nasal tip, Retina... |
OMIM:620155 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Anteverted nares, Retinal degeneration, Hearing impairment |
OMIM:272200 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Akinesia, Congestive heart failur... |
ORPHA:48818 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Dystonia, Bull's eye maculopathy, Rod-cone dystrophy, Optic atrophy, Leg dystonia, Choreoathetosi... |
ORPHA:157850 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... |
ORPHA:247768 |
Pseudohypoparathyroidism, Type Ia |
|
Depressed nasal bridge, Obesity, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... |
OMIM:103580 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Abnormal circulating leptin concentration, Enlarged... |
ORPHA:2298 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79085 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Wide nasal bridge, Obesity |
OMIM:618821 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella |
OMIM:620197 |
Abetalipoproteinemia |
|
Retinopathy, Ataxia, Retinal degeneration |
OMIM:200100 |
Rett Syndrome |
|
Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking, Increased serum leptin, Fa... |
ORPHA:778 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation |
ORPHA:816 |
Campomelic Dysplasia |
|
Abnormality of the sense of smell, Depressed nasal bridge, Low-set ears, Hearing impairment |
ORPHA:140 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum |
OMIM:617296 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Sensorineural hearing impairment, Retinal atrophy |
OMIM:617236 |
Mannosidosis, Alpha B, Lysosomal |
|
Epicanthus, Retinal degeneration, Sensorineural hearing impairment, Depressed nasal ridge, Macrot... |
OMIM:248500 |
Xp22.13P22.2 Duplication Syndrome |
|
Broad nasal tip, Recurrent upper respiratory tract infections, Flared nostrils, Polycystic ovarie... |
ORPHA:284180 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Radio-Tartaglia Syndrome |
|
Anteverted nares, Ataxia, Depressed nasal bridge, Prominent nasal bridge, Precocious puberty, Bul... |
OMIM:619312 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... |
ORPHA:542306 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Obes... |
ORPHA:98863 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Nasal congestion, Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Chronic rhinitis, Absent inner and outer dynein arms |
OMIM:618801 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy... |
ORPHA:26793 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Gait disturbance, Low frustration tolerance, Retinal degeneration |
ORPHA:168491 |
Microtriplication 11Q24.1 |
|
Wide nose, Obesity |
ORPHA:289522 |
Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation |
OMIM:607596 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy, Ataxia, Obesity |
OMIM:612291 |
Carpenter Syndrome |
|
Abnormal reproductive system morphology, Cryptorchidism, Obesity, External genital hypoplasia |
ORPHA:65759 |
Prader-Willi Syndrome |
|
Narrow nasal bridge, Small scrotum, Failure to thrive in infancy, Decreased response to growth ho... |
OMIM:176270 |
Leopard Syndrome 1 |
|
Epicanthus, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Depressed... |
OMIM:151100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Sensorineural hearing impairment, Hydrocephalus, Retinal degeneration |
OMIM:615249 |
Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Spina bifida, Underdeveloped nasal alae, Congenital ... |
OMIM:193500 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent sinusitis, Nasal congestion |
OMIM:300991 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Wide nasal bridge |
OMIM:613192 |
Down Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Decreased fertility, Obesity, Gait disturbance, Ty... |
ORPHA:870 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Prom... |
OMIM:216550 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Luscan-Lumish Syndrome |
|
Long nose, Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth |
OMIM:616831 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Hypothyroidism, Obesity, Depression |
ORPHA:36397 |
Man1B1-Cdg |
|
Wide nose, Broad-based gait, Prominent nose, Wide nasal bridge, Truncal obesity, Underdeveloped n... |
ORPHA:397941 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity |
ORPHA:79445 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy, Ptosis |
ORPHA:168549 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Wide nose, Anteverted nares, Obesity |
OMIM:619056 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Anteverted nares, Prominent nasal bridge, Inability to walk, Unsteady gait, Obesity, Emot... |
OMIM:618443 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec... |
ORPHA:813 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Depressio... |
ORPHA:330015 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Truncal obesity, Abdominal obesity, Hypertension, Type II diabetes mellitus |
OMIM:615812 |
Knobloch Syndrome |
|
Occipital encephalocele, Epicanthus, Retinal detachment, Depressed nasal bridge, Hydrocephalus, A... |
ORPHA:1571 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Truncal obesity, Obesity |
OMIM:618363 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ataxia, Unsteady gait, Shortened PR interval, ... |
OMIM:614947 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435651 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Truncal obesity, Concave nasal ridge, Hypogonadism, Failure to thrive |
ORPHA:73272 |
Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Retinal degeneration, Premature ovarian insufficiency, Abnormal circula... |
ORPHA:79474 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hypoplasia of penis, Cachexia, Prominent nose, Obesity, Hypogonadism, Decreased... |
ORPHA:85293 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Sensorineural hearing impairment, Angioid streaks of the fundus, Retinopathy, Retin... |
OMIM:239000 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618089 |
Monosomy 13Q34 |
|
Metrorrhagia, Epistaxis, Prominent nasal bridge, Broad nasal tip, Prominent nose, Obesity, Hemato... |
ORPHA:96168 |
Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Chorioretinal c... |
ORPHA:2563 |
Bardet-Biedl Syndrome 12 |
|
Hydrometrocolpos, Obesity, Hypogonadism, Rod-cone dystrophy, Vaginal atresia |
OMIM:615989 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435660 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Hypertension, Abnormal retinal morphology on macular OCT, Delayed puberty, Macular dystr... |
ORPHA:251004 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... |
ORPHA:79443 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Decreased test... |
ORPHA:127 |
Retinitis Pigmentosa 23 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... |
OMIM:300424 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Downslanted palpebral fissures |
OMIM:155145 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
Amoebiasis Due To Free-Living Amoebae |
|
Ataxia, Irritability, Abnormality of the adrenal glands, Hyposmia, Lethargy, Arrhythmia |
ORPHA:68 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Obesity, Weight loss, Hyp... |
ORPHA:251071 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:610015 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
White-Sutton Syndrome |
|
Waddling gait, Depressed nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Rod-cone dystroph... |
OMIM:616364 |
Ciliary Dyskinesia, Primary, 2 |
|
Absent inner and outer dynein arms, Nasal polyposis, Otitis media, Hearing impairment |
OMIM:606763 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level, Decreased serum leptin, Narrow nasa... |
ORPHA:280365 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614874 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Agenesis of corpus callosu... |
ORPHA:79243 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... |
ORPHA:79444 |
Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Ataxia, Retinal degeneration |
OMIM:615558 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Obesity, Heart murmur |
OMIM:615418 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation |
ORPHA:284417 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Depressed nasal bridge, Lattice retinal de... |
ORPHA:485 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:616562 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Highly arched eyebrow, Broad nasal tip... |
ORPHA:3132 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Ataxia, Low frustration tolerance, Obesity |
ORPHA:163681 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism, Disproportionate tall stature, Mitral regurgitation, Abdominal obesity |
OMIM:301039 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Obesity, First degree atrioventricular block, Decreased body weight |
ORPHA:589821 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Momo Syndrome |
|
Wide nasal bridge, Overgrowth, Obesity, Retinal coloboma |
OMIM:157980 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Adenoiditis,... |
ORPHA:581 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Ataxia, Congestive heart failure, Dysmetria, Abnormal fundus morphology,... |
ORPHA:94147 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Bilateral cryptorchidism, Obesity, Retinal vascular tortuosity, Male hypogonadism, M... |
OMIM:619471 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Gait imbalance, Obesity |
ORPHA:411511 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Optic ... |
ORPHA:79282 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Recurrent oti... |
OMIM:614935 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Broad-based gait, Retinal degeneration, Gait disturbance, Difficulty walking |
ORPHA:79244 |
Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, ... |
ORPHA:191 |
Carpenter Syndrome 1 |
|
Depressed nasal bridge, External genital hypoplasia, Precocious puberty, Cryptorchidism, Optic at... |
OMIM:201000 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short nose, Wide nasal bridge, Overgrowth, Obesity |
OMIM:620250 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Promi... |
ORPHA:193 |
Werner Syndrome |
|
Diabetes mellitus, Hypogonadism, Convex nasal ridge, Retinal degeneration |
OMIM:277700 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Depressed nasal bridge, Inability to walk, Unsteady gait, Optic atrophy, Obesity |
OMIM:618493 |
Trichothiodystrophy |
|
Epicanthus, Cryptorchidism, Protruding ear, Macular degeneration, Keratoconjunctivitis sicca, Con... |
ORPHA:33364 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Recurrent sinusitis, Chronic rhinitis, Absent outer dynein arms |
OMIM:612444 |
Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Ataxia, Precocious puberty in females, Inability to walk, Op... |
ORPHA:72 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Depressed nasal bridge, Obesity, Concave nasal ridge, Short nose |
OMIM:251450 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervo... |
ORPHA:247234 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:3078 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypertension, Diabetes mellitus, Obesity |
ORPHA:69663 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Dandy-Walker malformation |
OMIM:618606 |
Cockayne Syndrome A |
|
Slender nose, Retinal atrophy, Ataxia, Prominent nose, Cryptorchidism, Retinal pigment epithelial... |
OMIM:216400 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Sensorineural hearing impai... |
OMIM:120330 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Narrow nose, Retinal degeneration, Retinal... |
ORPHA:90324 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Increased body weight, Weight loss, Depression, Difficulty wa... |
ORPHA:905 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet... |
ORPHA:263455 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:617751 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchid... |
OMIM:236670 |
Cach Syndrome |
|
T2 hypointense thalamus, Lateral ventricle dilatation |
ORPHA:135 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Otosclerosis, Wide nose, Papilledema, Abnormality of retinal pigment... |
ORPHA:580 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Obesity |
OMIM:616267 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Immunodeficiency 13 |
|
Recurrent otitis media, Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract i... |
OMIM:615518 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormality of macular pigmentation |
ORPHA:1573 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Kleefstra Syndrome 1 |
|
Anteverted nares, Hypospadias, Cryptorchidism, Obesity, Micropenis |
OMIM:610253 |
Joubert Syndrome 6 |
|
Retinal degeneration, Ataxia, Chorioretinal coloboma |
OMIM:610688 |
Webb-Dattani Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... |
OMIM:615926 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
Nestor-Guillermo Progeria Syndrome |
|
Sinus tachycardia, Decreased serum leptin, Right bundle branch block, Hypertension, Mitral regurg... |
OMIM:614008 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Obesity, Abnormality of the uterus, Del... |
ORPHA:3138 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Obesity, Underdeveloped nasal alae |
OMIM:608624 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal congestion, Absent outer dynein arms, Nasal polyposis, Recurrent otitis media |
OMIM:616037 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test |
OMIM:609053 |
Insulin-Like Growth Factor I, Resistance To |
|
Diabetes mellitus, Wide nasal bridge, Increased circulating insulin-like growth factor 1 concentr... |
OMIM:270450 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
Ciliary Dyskinesia, Primary, 35 |
|
Chronic otitis media, Nasal polyposis, Chronic rhinitis |
OMIM:617092 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal nasal morphology, Truncal obesity, Hypospadias |
ORPHA:3224 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:618291 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Waddling gait, Obesity |
ORPHA:174 |
Angelman Syndrome |
|
Progressive gait ataxia, Ataxia, Obesity, Broad-based gait |
OMIM:105830 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Recurrent oti... |
OMIM:615444 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Nasal polyposis |
OMIM:604571 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, Gait imbalance, Obesity |
ORPHA:98794 |
Wilson Disease |
|
Dystonia, Decreased nerve conduction velocity, Tremor, Hand tremor, Limb dystonia, Hyposmia |
OMIM:277900 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Hydrocephalus, Nasal congestion, Recurrent otitis media, Chronic rhinitis, Condu... |
ORPHA:244 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Anteverted nares, Hypospadias, Cryptorchidism, Obesity, Micropenis, Arrhythm... |
ORPHA:261494 |
Ciliary Dyskinesia, Primary, 42 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:618695 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Retinopathy, Retinal degeneration |
OMIM:252600 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:544488 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Obesity, Broad nasal tip |
OMIM:619680 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotox... |
ORPHA:79102 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, Elev... |
ORPHA:90041 |
Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Small for gestational age, Premature ovarian insufficiency, ... |
ORPHA:125 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Optic atrophy, Depression, Choreoathetosis, Bradykinesia, Pigmentary retinopath... |
OMIM:234200 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Achondroplasia |
|
Depressed nasal bridge, Short nasal bridge, Anteverted nares, Obesity |
ORPHA:15 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Diabetes mellitus, Anteverted nares, Small scrotum, External genital hypoplasia, Cryptorchidism, ... |
OMIM:614231 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Decreased serum leptin, Decreased fertility in females, Labial hypertrophy,... |
OMIM:269700 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failu... |
ORPHA:85450 |
2Q37 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Broad columella |
ORPHA:1001 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:608647 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Precocious puberty, Obesity, Type I diabetes mellitus, Retinopathy |
OMIM:619269 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Narrow nasal ridge, Raynaud phenomenon, Shuffling... |
ORPHA:740 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity, Primary amenorrhea, Prominent nose |
ORPHA:319675 |
Chops Syndrome |
|
Anteverted nares, Cryptorchidism, Optic atrophy, Obesity, Short nose |
OMIM:616368 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, ... |
OMIM:608594 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis |
OMIM:613808 |
Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618651 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ataxia, Overweight, Inability to walk, Obesity, Decreased body weight |
OMIM:619229 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Chorioretinal coloboma, Micropenis, Ataxia, Anteverted nares, Hypospadias, Overwei... |
OMIM:619475 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Broad nasal tip, Cryptorchidism, Unsteady gait, Obesity, Dysmetria, Abnormal columel... |
ORPHA:96121 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Decreased response to growth hormone stimula... |
ORPHA:529962 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Congenital Analbuminemia |
|
Small for gestational age, Obesity, Low pulse pressure |
ORPHA:86816 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Dysmetria |
OMIM:619780 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Failure to thrive, Obesity |
ORPHA:261197 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dandy-Walker malformation, Colpocephaly, Lateral ventricle dilatation, Dilated third ventricle, V... |
ORPHA:397715 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:620113 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... |
OMIM:617260 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation |
OMIM:618914 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... |
OMIM:177850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Hydrocephalus, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Short... |
OMIM:253280 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Cardiomyopathy, Ataxia, Obesity, Difficulty walking |
ORPHA:98907 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadi... |
ORPHA:177907 |
Benign Schwannoma |
|
Nasal polyposis, Facial palsy, Hearing abnormality, Vertigo, Abnormality of the twelfth cranial n... |
ORPHA:252164 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven... |
ORPHA:1855 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Dysbetalipoproteinemia |
|
Angina pectoris, Diabetes mellitus, Hypothyroidism, Obesity |
ORPHA:412 |
Generalized Pustular Psoriasis |
|
Overweight, Congestive heart failure, Obesity |
ORPHA:247353 |
White-Sutton Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Optic atrophy, Obesity, Rod-cone dystrophy |
ORPHA:468678 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Abnormality of the pineal gland, Obesity, Failu... |
ORPHA:369950 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Depressed nasal bridge, Anteverted nares, Inability to walk, Optic atrophy, Wide... |
ORPHA:97297 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:602499 |
Helsmoortel-Van Der Aa Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Broad nasal tip, Cryptor... |
OMIM:615873 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
ORPHA:464738 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Hypospadias, Choanal atresia, P... |
ORPHA:567 |
Occipital Horn Syndrome |
|
Downslanted palpebral fissures, Abnormality of the sense of smell |
ORPHA:198 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Gaucher Disease, Type I |
|
Epistaxis, Macular atrophy, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, ... |
OMIM:230800 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation |
OMIM:619847 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:612863 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Underdeveloped nasal alae, Precocious puberty, Prominent nose, Wide nasal bridge, Truncal obesity... |
ORPHA:2637 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Convex nasal ridge, Optic nerve hypoplasia, Optic atrophy, Micropenis, Abdomin... |
OMIM:619321 |
Distal Deletion 12Q |
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Diabetes mellitus, Failure to thrive in infancy, Unilateral cryptorchidism, Maturity-onset diabet... |
ORPHA:96149 |
Lipoid Proteinosis |
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Nasal polyposis, Dystonia |
ORPHA:530 |
Cancer-Associated Retinopathy |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Testicular neoplasm, Fove... |
ORPHA:71505 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypoparathyroidism, Depressed nasal bridge, Precocious puberty, Wide nasal bridge, Obesity, Restr... |
ORPHA:369837 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Depressed nasal bridge, Hypospadias, Cryptorchidism, Dilated cardiomyopathy,... |
ORPHA:1606 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Depressed nasal bridge, Broad nasal tip, Bulbous nose, Wide nasal bridge, Obesity, Truncal obesit... |
ORPHA:466950 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
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Retinal atrophy |
OMIM:616722 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
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Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, High urinar... |
ORPHA:99413 |
Mosaic Monosomy X |
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Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, High urinar... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, High urinar... |
ORPHA:99226 |
Turner Syndrome |
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Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, High urinar... |
ORPHA:881 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Lateral ventricle dilatation |
ORPHA:565624 |
3Q29 Microduplication Syndrome |
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Wide nasal bridge, Obesity |
ORPHA:251038 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hypospadias, Cardiac conduction abnormality, Abnormal fear-induced behavior, Cryptorchidism, Obes... |
ORPHA:353281 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Hypospadias, Prominent nasal bridge, Prominent nose, Precocious puberty, Truncal obesity, Type II... |
OMIM:210720 |
Keppen-Lubinsky Syndrome |
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Narrow nasal bridge, Decreased serum leptin, Underdeveloped nasal alae, Narrow naris, Failure to ... |
OMIM:614098 |
Myhre Syndrome |
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Small for gestational age, Prominent nasal bridge, Ataxia, Cryptorchidism, Obesity, Hypertension,... |
OMIM:139210 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Anteverted nares, Decreased response to growth hormone stimulation test, Central diabetes insipid... |
ORPHA:293987 |
Neutral Lipid Storage Myopathy |
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Diabetes mellitus, Congestive heart failure, Obesity, Pineal cyst, Cardiomyopathy, Difficulty wal... |
ORPHA:98908 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:572798 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Epicanthus, Depressed nasal bridge, Posteriorly rotated ears, Retinal dystrophy, Wide nasal bridg... |
OMIM:266920 |
Aicardi Syndrome |
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Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dilatation, Dilat... |
OMIM:304050 |
Farber Disease |
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Cherry red spot of the macula, Macular degeneration, Abnormal conjunctiva morphology, Recurrent u... |
ORPHA:333 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
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Cryptorchidism, Wide nose, Obesity |
OMIM:616078 |
White-Kernohan Syndrome |
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Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Rectovaginal fistul... |
OMIM:619426 |
Cone-Rod Dystrophy 6 |
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Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Kabuki Syndrome |
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Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Short columella, F... |
ORPHA:2322 |
Diamond-Blackfan Anemia 21 |
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Aortic regurgitation, Obesity |
OMIM:620072 |
Williams Syndrome |
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Hypoplasia of penis, Myocardial infarction, Dysmetria, Hypothyroidism, Ataxia, Hypogonadotropic h... |
ORPHA:904 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Depressed nasal bridge, Anteverted nares, Broad nasal tip, Optic disc coloboma, Obesity, Pseudohy... |
OMIM:617157 |
Granulomatosis With Polyangiitis |
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Retinal hemorrhage, Concave nasal ridge, Conjunctivitis, Chronic otitis media, Nasal mucosa vascu... |
OMIM:608710 |
Cog5-Cdg |
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Lateral ventricle dilatation |
ORPHA:263487 |
Asparagine Synthetase Deficiency |
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Dilated fourth ventricle, Dilated third ventricle, Ventriculomegaly |
OMIM:615574 |
Nephronophthisis 11 |
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Retinal degeneration |
OMIM:613550 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Precocious puberty, Bifid nose, Depressed nasal bridge, Obesity |
OMIM:301066 |
Noonan Syndrome 14 |
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Lateral ventricle dilatation |
OMIM:619745 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly |
OMIM:619479 |
Osteopetrosis, Autosomal Recessive 7 |
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Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Desbuquois Dysplasia 2 |
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Truncal obesity, Depressed nasal bridge |
OMIM:615777 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Depressed nasal bridge, Broad nasal tip, Bulbous nose, Wide nasal bridge, Obesity |
ORPHA:466943 |
6Q Terminal Deletion Syndrome |
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Hypospadias, Phimosis, Obesity, Dysmetria, Gait ataxia, Failure to thrive |
ORPHA:75857 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hydrocephalus, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
Osteopetrosis With Renal Tubular Acidosis |
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Retinal atrophy, Abnormal retinal morphology, Optic atrophy, Secondary hyperparathyroidism, Pulmo... |
ORPHA:2785 |
Witteveen-Kolk Syndrome |
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Wide nose, Unilateral cryptorchidism, Small for gestational age, Decreased response to growth hor... |
OMIM:613406 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Anteverted nares, Decreased response to growth hormone stimulation test, Hypospadias, Congestive ... |
ORPHA:444077 |
Alport Syndrome |
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Hypertension, Macular degeneration, Retinal flecks, Clitoral hypertrophy |
ORPHA:63 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Pulmonary insufficiency, Retinal degeneration |
OMIM:208500 |
Williams-Beuren Syndrome |
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Diabetes mellitus, Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Broad ... |
OMIM:194050 |
Beckwith-Wiedemann Syndrome |
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Adrenocortical cytomegaly, Large for gestational age, Adrenocortical carcinoma, Cryptorchidism, O... |
ORPHA:116 |
1P21.3 Microdeletion Syndrome |
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Short nose, Obesity, Broad nasal tip |
ORPHA:293948 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Obesity |
ORPHA:209902 |
Peutz-Jeghers Syndrome |
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Neoplasm of the nose, Nasal polyposis, Abnormality of the nose |
ORPHA:2869 |
Rubinstein-Taybi Syndrome 1 |
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Small for gestational age, Hypospadias, Premature thelarche, Prominent nose, Bilateral cryptorchi... |
OMIM:180849 |
Khan-Khan-Katsanis Syndrome |
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Colpocephaly, Ventriculomegaly |
OMIM:618460 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Small scrotum, Anteverted nares, Depressed nasal bridge, Hypospadias, Cryptorchidism, Triangular ... |
OMIM:309580 |
Fanconi Anemia, Complementation Group A |
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Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age |
OMIM:227650 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Optic disc pallor, Depressed nasal bridge, Abnormal external genita... |
OMIM:607872 |
Xylt1-Cdg |
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Truncal obesity |
ORPHA:370930 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hypospadias, Cardiac conduction abnormality, Abnormal fear-induced behavior, Cryptorchidism, Prom... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hypospadias, Cardiac conduction abnormality, Abnormal fear-induced behavior, Cryptorchidism, Prom... |
ORPHA:353277 |
Carpenter Syndrome 2 |
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Tricuspid regurgitation, Depressed nasal bridge, Anteverted nares, Bilateral cryptorchidism, Cryp... |
OMIM:614976 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Colpocephaly, Agenesis of corpus callosum |
OMIM:614866 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Obesity |
OMIM:250420 |
Adnp Syndrome |
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Truncal obesity, Recurrent upper respiratory tract infections, Depressed nasal bridge, Cryptorchi... |
ORPHA:404448 |
Holoprosencephaly 13, X-Linked |
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Colpocephaly, Agenesis of corpus callosum |
OMIM:301043 |
Orofaciodigital Syndrome Type 14 |
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Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dilated third ventricle, Dandy... |
ORPHA:434179 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Obesity, Bicornuate ut... |
OMIM:181450 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal obesity, Ataxia, Truncal ataxia |
OMIM:301072 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Colpocephaly |
OMIM:620083 |
Gabriele-De Vries Syndrome |
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Lateral ventricle dilatation |
OMIM:617557 |
Cystinosis, Nephropathic |
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Male infertility, Diabetes mellitus, Failure to thrive in infancy, Retinal pigment epithelial mot... |
OMIM:219800 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle |
ORPHA:314404 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:618820 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Colpocephaly |
ORPHA:477993 |
Digeorge Syndrome |
|
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Obesity, Parathyroid hypop... |
OMIM:188400 |
Lysinuric Protein Intolerance |
|
Truncal obesity, Failure to thrive, Pulmonary hemorrhage |
OMIM:222700 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:619869 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypospadias, Cryp... |
ORPHA:199 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation |
OMIM:618367 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Pericarditis, Abnormal retinal morphology, Abnormality of the endocrin... |
ORPHA:228123 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent... |
OMIM:612474 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation |
OMIM:263520 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis |
ORPHA:183 |
Monosomy 22Q13.3 |
|
Bulbous nose, Wide nasal bridge, Obesity |
ORPHA:48652 |
Primrose Syndrome |
|
Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Anteverted nares, Depressed nasal brid... |
OMIM:259050 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Colpocephaly, Lateral ventricle dilatatio... |
OMIM:210710 |
Smith-Lemli-Opitz Syndrome |
|
Colpocephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation |
OMIM:270400 |
Cystic Fibrosis |
|
Male infertility, Nasal polyposis, Failure to thrive |
OMIM:219700 |
Pallister-Killian Syndrome |
|
Small scrotum, Anteverted nares, Depressed nasal bridge, Hypospadias, Inability to walk, Cryptorc... |
OMIM:601803 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Hypogonadism, Pulmon... |
OMIM:163950 |
Peutz-Jeghers Syndrome |
|
Nasal polyposis, Precocious puberty with Sertoli cell tumor |
OMIM:175200 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation |
OMIM:300896 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Facial palsy, Dacryocystitis, Enlarged lacrimal glands, Abnorma... |
ORPHA:797 |
Genitopatellar Syndrome |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
Cystic Fibrosis |
|
Nasal polyposis, Hearing impairment |
ORPHA:586 |
Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Failure to thrive, Urogenital sinus anomaly |
ORPHA:2473 |
Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... |
OMIM:236700 |