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Gene: Mkks MGI:1891836

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
McKusick-Kaufman syndrome
Synonyms:
Bbs6,  1300013E18Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mkks mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Mkks by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Diabetes mellitus, Failure to thrive in infancy, Unilateral cryptorchidism, Maturity-onset diabet... ORPHA:96149
Lipoid Proteinosis
Nasal polyposis, Dystonia ORPHA:530
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Testicular neoplasm, Fove... ORPHA:71505
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Depressed nasal bridge, Precocious puberty, Wide nasal bridge, Obesity, Restr... ORPHA:369837
1P36 Deletion Syndrome
Hypoplasia of penis, Depressed nasal bridge, Hypospadias, Cryptorchidism, Dilated cardiomyopathy,... ORPHA:1606
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
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
Retinal atrophy OMIM:616722
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, High urinar... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, High urinar... ORPHA:99228
Monosomy X
Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, High urinar... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, High urinar... ORPHA:881
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation ORPHA:565624
3Q29 Microduplication Syndrome
Wide nasal bridge, Obesity ORPHA:251038
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Cardiac conduction abnormality, Abnormal fear-induced behavior, Cryptorchidism, Obes... ORPHA:353281
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Prominent nasal bridge, Prominent nose, Precocious puberty, Truncal obesity, Type II... OMIM:210720
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Decreased serum leptin, Underdeveloped nasal alae, Narrow naris, Failure to ... OMIM:614098
Myhre Syndrome
Small for gestational age, Prominent nasal bridge, Ataxia, Cryptorchidism, Obesity, Hypertension,... OMIM:139210
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Anteverted nares, Decreased response to growth hormone stimulation test, Central diabetes insipid... ORPHA:293987
Neutral Lipid Storage Myopathy
Diabetes mellitus, Congestive heart failure, Obesity, Pineal cyst, Cardiomyopathy, Difficulty wal... ORPHA:98908
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Epicanthus, Depressed nasal bridge, Posteriorly rotated ears, Retinal dystrophy, Wide nasal bridg... OMIM:266920
Aicardi Syndrome
Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dilatation, Dilat... OMIM:304050
Farber Disease
Cherry red spot of the macula, Macular degeneration, Abnormal conjunctiva morphology, Recurrent u... ORPHA:333
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Wide nose, Obesity OMIM:616078
White-Kernohan Syndrome
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Rectovaginal fistul... OMIM:619426
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Short columella, F... ORPHA:2322
Diamond-Blackfan Anemia 21
Aortic regurgitation, Obesity OMIM:620072
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Dysmetria, Hypothyroidism, Ataxia, Hypogonadotropic h... ORPHA:904
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Optic disc coloboma, Obesity, Pseudohy... OMIM:617157
Granulomatosis With Polyangiitis
Retinal hemorrhage, Concave nasal ridge, Conjunctivitis, Chronic otitis media, Nasal mucosa vascu... OMIM:608710
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Dilated third ventricle, Ventriculomegaly OMIM:615574
Nephronophthisis 11
Retinal degeneration OMIM:613550
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Bifid nose, Depressed nasal bridge, Obesity OMIM:301066
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly OMIM:619479
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Desbuquois Dysplasia 2
Truncal obesity, Depressed nasal bridge OMIM:615777
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Broad nasal tip, Bulbous nose, Wide nasal bridge, Obesity ORPHA:466943
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Obesity, Dysmetria, Gait ataxia, Failure to thrive ORPHA:75857
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly OMIM:309801
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Optic atrophy, Secondary hyperparathyroidism, Pulmo... ORPHA:2785
Witteveen-Kolk Syndrome
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
Anteverted nares, Decreased response to growth hormone stimulation test, Hypospadias, Congestive ... ORPHA:444077
Alport Syndrome
Hypertension, Macular degeneration, Retinal flecks, Clitoral hypertrophy ORPHA:63
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Retinal degeneration OMIM:208500
Williams-Beuren Syndrome
Diabetes mellitus, Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Broad ... OMIM:194050
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Large for gestational age, Adrenocortical carcinoma, Cryptorchidism, O... ORPHA:116
1P21.3 Microdeletion Syndrome
Short nose, Obesity, Broad nasal tip ORPHA:293948
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Peutz-Jeghers Syndrome
Neoplasm of the nose, Nasal polyposis, Abnormality of the nose ORPHA:2869
Rubinstein-Taybi Syndrome 1
Small for gestational age, Hypospadias, Premature thelarche, Prominent nose, Bilateral cryptorchi... OMIM:180849
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly OMIM:618460
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Anteverted nares, Depressed nasal bridge, Hypospadias, Cryptorchidism, Triangular ... OMIM:309580
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age OMIM:227650
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Optic disc pallor, Depressed nasal bridge, Abnormal external genita... OMIM:607872
Xylt1-Cdg
Truncal obesity ORPHA:370930
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Cardiac conduction abnormality, Abnormal fear-induced behavior, Cryptorchidism, Prom... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Cardiac conduction abnormality, Abnormal fear-induced behavior, Cryptorchidism, Prom... ORPHA:353277
Carpenter Syndrome 2
Tricuspid regurgitation, Depressed nasal bridge, Anteverted nares, Bilateral cryptorchidism, Cryp... OMIM:614976
Peroxisome Biogenesis Disorder 5A (Zellweger)
Colpocephaly, Agenesis of corpus callosum OMIM:614866
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Adnp Syndrome
Truncal obesity, Recurrent upper respiratory tract infections, Depressed nasal bridge, Cryptorchi... ORPHA:404448
Holoprosencephaly 13, X-Linked
Colpocephaly, Agenesis of corpus callosum OMIM:301043
Orofaciodigital Syndrome Type 14
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
Colpocephaly OMIM:620083
Gabriele-De Vries Syndrome
Lateral ventricle dilatation OMIM:617557
Cystinosis, Nephropathic
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
Male infertility OMIM:619607
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mkks

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mkks.

No publications found that use IMPC mice or data for Mkks.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mkkstm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mkkstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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