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Gene: Bbip1 MGI:1913610

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Gene Summary

Name:
BBSome interacting protein 1
Synonyms:
4930560M04Rik,  2310002J21Rik,  Ncrna00081,  2610002B11Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Bbip1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal pancreas morphology Bbip1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spine curvature Bbip1em1(IMPC)Ccpcz HET   Early adult 6.29×10-06
preweaning lethality, incomplete penetrance Bbip1em1(IMPC)Ccpcz HOM   Early adult 0.00
decreased respiratory quotient Bbip1em1(IMPC)Ccpcz HET Early adult 6.18×10-05
kyphosis Bbip1em1(IMPC)Ccpcz HET   Early adult 3.11×10-06
no spontaneous movement Bbip1em1(IMPC)Ccpcz HOM E18.5 0.00

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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.

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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FCS thumbnail FCS
MicroCT E18.5

Embryo reconstruction

3 Images

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Human diseases caused by Bbip1 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 associated to Bbip1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bardet-Biedl Syndrome 18
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Bardet-Biedl Syndrome
Irregular menstruation, Hypogonadism, Obesity, Cone/cone-rod dystrophy, Childhood-onset truncal o... ORPHA:110

The table below shows human diseases predicted to be associated to Bbip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Abnorma... OMIM:614963
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age, Macular hypopigmentation, Polyphagia, Rod-cone ... OMIM:617119
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Obesity ORPHA:329249
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Tall stature OMIM:618406
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Obesity And Hypopigmentation
Polyphagia, Obesity, Overgrowth OMIM:620195
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Morm Syndrome
Aggressive behavior, Retinal atrophy, Hyperactivity, Truncal obesity, Retinal dystrophy ORPHA:75858
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Retinopathy OMIM:615988
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Primary amenorrhea OMIM:614962
Bardet-Biedl Syndrome 13
Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615990
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Gonadotropin d... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Gonadotropin d... ORPHA:71526
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Obesity, Attenuation of retinal blood vessels, Retinal degene... OMIM:615986
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy OMIM:603649
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy OMIM:136550
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Bardet-Biedl Syndrome 18
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Bardet-Biedl Syndrome 14
Obesity, Rod-cone dystrophy OMIM:615991
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity, Macular dystrophy, Rod-cone dystrophy OMIM:615983
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Retinal Dystrophy And Obesity
Obesity, Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detac... OMIM:616188
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:609923
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Obesity, Aggressive behavior ORPHA:261229
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Obesity, Decreased growth hormone response... OMIM:609734
Dystonia 30
Compulsive behaviors, Aggressive behavior, Hypothalamic hamartoma, Impulsivity OMIM:619291
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Inappropriate laughter, Obesity, Hyperactivity ORPHA:411515
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Retinal degenerati... OMIM:275400
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obes... ORPHA:54595
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Obesity, Small for gestational... ORPHA:254516
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Decreased libido, Sweet craving, Polyphagia, Repetitive com... ORPHA:33543
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Joubert Syndrome 10
Frequent temper tantrums, Obesity, Decreased body weight, Polyphagia, Rod-cone dystrophy OMIM:300804
Spermatogenic Failure 17
Male infertility OMIM:617214
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
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Cone-Rod Dystrophy 11
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy OMIM:610381
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Obesity, Cone/cone-rod dystrophy, Hypoplas... OMIM:617406
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Obesity Due To Congenital Leptin Deficiency
Obesity, Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Pituitary hypothyroidism, Hyper... ORPHA:66628
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ... OMIM:300942
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Hypogonadism, Decreased response to growth hormone stimulation test, Reti... ORPHA:3363
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity OMIM:620270
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Pituitary hypothyroidism, Hyper... ORPHA:179494
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
X-Linked Acrogigantism
Abnormal optic chiasm morphology, Pituitary adenoma, Increased circulating prolactin concentratio... ORPHA:300373
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276556
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
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity, Overweight, Bulimia OMIM:614651
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Large for gestational age, Small for gestational age, Agitation ORPHA:324575
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Skin-picking, Polyphagia, Impulsivity OMIM:615547
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276575
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Polyphagia, Aggressive behavior, Overgrowth OMIM:616831
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Graves Disease
Polyphagia, Weight loss, Hyperactivity OMIM:275000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276580
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Abnormal temper tantrums, Small pituitary gland, Failure to thriv... ORPHA:398079
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity ORPHA:300305
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Subretinal deposits, Macular degeneration, Choriocapillaris atrophy OMIM:601553
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Failure to thrive, Hypergonado... OMIM:606407
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity, Retinal dystrophy OMIM:610156
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy, Reduced sperm m... OMIM:602271
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Aggressive behavior, Restlessness, Agitation OMIM:300438
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Macular degeneration, Dysphagia, Retinal degeneration OMIM:604360
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea OMIM:604931
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration OMIM:204200
Chromosome Xq21 Deletion Syndrome
Obesity, Chorioretinal degeneration, Chorioretinal atrophy, Choroideremia OMIM:303110
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Dysphagia, Failure to thrive OMIM:613668
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity, Rod-cone dystrophy OMIM:615984
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula... OMIM:608161
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity, Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pi... OMIM:615994
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Rod-cone dystrophy OMIM:615985
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Aggressive beh... OMIM:300148
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Retinitis Pigmentosa 51
Macular degeneration, Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of... OMIM:613464
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Obesity, Retinal degeneration, Overweight, Dysphagia ORPHA:2822
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Pigmentary retinopathy, Obesity, Hypothalamic gonadotropin-r... ORPHA:2235
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Abnormal temper tantrums, Small pituitary gland, Failure to thriv... ORPHA:398069
Morbid Obesity And Spermatogenic Failure
Infertility, Obesity, Azoospermia, Oligozoospermia OMIM:615703
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... OMIM:271630
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Duplication Of The Pituitary Gland
Self-mutilation, Decreased body weight, Abnormal hypothalamus morphology, Congenital stationary n... ORPHA:314621
Insulinoma
Increased body weight, Polyphagia, Pituitary prolactin cell adenoma ORPHA:97279
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration OMIM:256730
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Dysphagia OMIM:164500
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Angelman Syndrome
Self-injurious behavior, Optic atrophy, Delayed menarche, Inappropriate laughter, Obesity, Recurr... ORPHA:72
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Decreased response... ORPHA:98793
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Decreased response... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Decreased response... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Decreased response... ORPHA:98754
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Polycystic Ovary Syndrome 1
Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Interhypothalamic adhesion, Attention deficit hyperactivity disorder, Im... OMIM:618929
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Focal T2 hyperintense thalamic lesion, Retinal degeneration, Motor stereo... ORPHA:79264
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Failure to thrive, Truncal obesity ORPHA:261483
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity, Abnormal retinal morphology on macular OCT, Macular dystrophy ORPHA:251004
Narcolepsy Type 1
Male sexual dysfunction, Female sexual dysfunction, Obesity, Restless legs, Attention deficit hyp... ORPHA:2073
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Nephronophthisis 9
Polydipsia, Retinal degeneration OMIM:613824
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Cebalid Syndrome
Polyphagia OMIM:618774
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity ORPHA:171706
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Familial Peripheral Male-Limited Precocious Puberty
Tall stature, Attention deficit hyperactivity disorder, Oligozoospermia, Male infertility ORPHA:3000
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Attention defi... OMIM:618195
Sandhoff Disease
Hepatomegaly, Splenomegaly, Kyphosis ORPHA:796
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Retinal dystrophy OMIM:616756
Senior-Loken Syndrome 9
Macular degeneration, Hypogonadism, Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Winchester Syndrome
Kyphosis OMIM:277950
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... OMIM:618160
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Obesity ORPHA:444002
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Coasy Protein-Associated Neurodegeneration
Compulsive behaviors, Abnormal thalamus morphology ORPHA:397725
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613660
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Alexander Disease Type I
Cachexia, Dysphagia, Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:363717
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility ORPHA:2233
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Aggressive behavior, Hyperactivity, Anorexia ORPHA:3077
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Obesity, Rod-cone dystrophy OMIM:600151
Laurence-Moon Syndrome
Pigmentary retinopathy, Obesity, Chorioretinal atrophy OMIM:245800
Prader-Willi Syndrome
Self-injurious behavior, Class III obesity, Failure to thrive in infancy, Decreased response to g... OMIM:176270
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Abnormal testis morphology ORPHA:1548
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Mehmo Syndrome
Obesity, Agitation ORPHA:85282
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness ORPHA:75382
Chung-Jansen Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Impulsivity OMIM:617991
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Adiposis Dolorosa
Obesity OMIM:103200
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:615996
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Prader-Willi Syndrome
Small pituitary gland, Failure to thrive, Hypogonadism, Decreased response to growth hormone stim... ORPHA:739
Secondary Short Bowel Syndrome
Polyphagia, Weight loss, Failure to thrive ORPHA:95427
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Cryptorchidism, Scheuermann-like vertebral changes, Scoliosis, Ky... OMIM:301900
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Retinitis Pigmentosa
Optic atrophy, Hypogonadism, Obesity, Attenuation of retinal blood vessels, Abnormality of retina... ORPHA:791
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Hyperactivity, Failure to thrive ORPHA:525731
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Nephronophthisis 14
Retinal degeneration OMIM:614844
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis, Cryptorchidism OMIM:618393
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Kyphosis ORPHA:1875
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Focal T2 hyperintense thalamic lesion, Small for gestational age OMIM:619057
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Failure to thrive, Retinal degeneration, Attention deficit hyperactivity disorder,... ORPHA:442835
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Kyphosis, Cryptorchidism OMIM:618512
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Perrault Syndrome 4
Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased circulating gonad... OMIM:615300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Splenomegaly, Hepatomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis OMIM:230650
Clark-Baraitser Syndrome
Aggressive behavior, Obesity, Hyperactivity OMIM:617752
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Secondary amenorrhea, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism ORPHA:3085
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Hsd10 Disease, Infantile Type
Optic atrophy, Retinal degeneration, Paroxysmal bursts of laughter, Rod-cone dystrophy, Restlessn... ORPHA:391428
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis OMIM:618234
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Rod-cone dystrophy, Retinal dystrophy ORPHA:261222
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dysphagia, Thalamic calcification OMIM:618317
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes... ORPHA:261529
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Alg6-Cdg
Failure to thrive, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Macular dots, Retinal pigment epithelial atrophy, Macular... OMIM:270200
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
Basal Ganglia Calcification, Idiopathic, 5
Motor tics, Thalamic calcification OMIM:615483
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Decreased response to growth hormone stimulation test, O... ORPHA:79444
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis, Cryptorchidism ORPHA:178148
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Elevated circulating follicle stimulating hormone level,... OMIM:620103
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hyperactivity ORPHA:397973
48,Xxyy Syndrome
Tall stature, Azoospermia, Obesity, Attention deficit hyperactivity disorder, Infertility, Motor ... ORPHA:10
Panhypophysitis
Secondary growth hormone deficiency, Polydipsia, Decreased male libido, Increased circulating pro... ORPHA:95513
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Primary amenorrhea, Optic disc pallor, Retrobulbar optic neuritis, Hypergonadotropic hyp... OMIM:619737
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Attenuation of retinal blood vessels, Retinal degeneration, Macular atrophy, Geographic atrophy, ... OMIM:619260
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Decreased fertility, Obesity, Eunuchoid habitus ORPHA:2234
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity OMIM:300869
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Trisomy 5P
Obesity ORPHA:1742
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy, Neonatal death OMIM:610127
Angelman Syndrome Due To A Point Mutation
Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Obesity, Tongue thrust... ORPHA:411511
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity, Oral-pharyngeal dysphagia ORPHA:480907
Rafiq Syndrome
Aggressive behavior, Obesity, Truncal obesity OMIM:614202
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Obesity, Rod-cone dystrophy OMIM:605231
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning OMIM:615960
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Disinhibition OMIM:618193
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital stationary night blindness ORPHA:352530
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Rod-cone dystrophy OMIM:615633
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spermatogenic Failure 28
Non-obstructive azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating... OMIM:618086
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Scoliosis, Kyphosis, Cryptorchidism OMIM:611890
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me... ORPHA:67042
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Bone spicule pigmentat... OMIM:617547
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy OMIM:618430
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Abnormal optic disc morphology, Aggressive behavior, Polyphagia... ORPHA:96121
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness, Aggressive behavior, Self-mutilation ORPHA:251028
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis, Cryptorchidism, Kyphoscoliosis OMIM:618484
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Neurodevelopmental Disorder With Language Delay And Seizures
Attention deficit hyperactivity disorder, Hypothalamic hamartoma, Obsessive-compulsive tr