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Gene: Bbip1 MGI:1913610

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Gene Summary

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

Order Alleles

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 spine curvature Bbip1em1(IMPC)Ccpcz HET   Early adult 6.27×10-06
kyphosis Bbip1em1(IMPC)Ccpcz HET   Early adult 3.30×10-06
no spontaneous movement Bbip1em1(IMPC)Ccpcz HOM E18.5 0.00
decreased respiratory quotient Bbip1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal pancreas morphology Bbip1em1(IMPC)Ccpcz HET Early adult 0.00

Download data as:  TSV  XLS

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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 Skull Dorso Ventral 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 Forepaw

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 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
Obesity, Pigmentary retinopathy, Hypogonadism, Hypoplasia of the ovary 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
Polyphagia, Abnormal eating behavior, Abnormal hypothalamus morphology, Decreased response to gro... OMIM:614963
Bardet-Biedl Syndrome 22
Polyphagia, Rod-cone dystrophy, Hypogonadism, Macular hypopigmentation, Large for gestational age... OMIM:617119
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Tall stature, Obesity OMIM:618406
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Obesity And Hypopigmentation
Polyphagia, Overgrowth, Obesity OMIM:620195
Leptin Deficiency Or Dysfunction
Polyphagia, Hypogonadism, Primary amenorrhea, Obesity OMIM:614962
Bardet-Biedl Syndrome 11
Retinopathy, Hypogonadism, Obesity OMIM:615988
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... OMIM:615990
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Failu... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Failu... ORPHA:71526
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Retinal degeneration, Irregular menstruation, Polydipsia, Bone spicu... OMIM:615986
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Bardet-Biedl Syndrome 10
Obesity, Rod-cone dystrophy, Hypogonadism, Retinal dystrophy OMIM:615987
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy OMIM:136550
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity ORPHA:329249
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Bardet-Biedl Syndrome 18
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Bardet-Biedl Syndrome 5
Hypogonadism, Rod-cone dystrophy, Macular dystrophy, Obesity OMIM:615983
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Retinal Dystrophy And Obesity
Peripapillary atrophy, Obesity, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... OMIM:616188
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Morm Syndrome
Retinal dystrophy, Truncal obesity, Hyperactivity, Retinal atrophy ORPHA:75858
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Macular dystrophy, Cystoid macular degeneration OMIM:153700
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Perifoveal ring of hyperautofluorescence, Hypoautofluorescen... OMIM:619531
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... ORPHA:85128
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adren... OMIM:609734
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Carcinoma Of Esophagus
Dysphagia, Weight loss, Obesity ORPHA:70482
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Decreased body weight, Failure to thrive OMIM:620085
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity OMIM:616521
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Retinitis Pigmentosa 31
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:609923
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Craniopharyngioma
Polyphagia, Hypopituitarism, Increased circulating prolactin concentration, Abnormal hypothalamus... ORPHA:54595
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Graves Disease, Susceptibility To, 1
Polyphagia, Decreased thyroid-stimulating hormone level, Hyperactivity, Weight loss OMIM:275000
Temple Syndrome
Polyphagia, Small for gestational age, Decreased response to growth hormone stimulation test, Obe... ORPHA:254516
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 4
Obesity, Rod-cone dystrophy, Hypogonadism, Retinal degeneration OMIM:615982
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Oliver-Mcfarlane Syndrome
Small for gestational age, Pigmentary retinopathy, Decreased response to growth hormone stimulati... OMIM:275400
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Bardet-Biedl Syndrome 16
Obesity, Rod-cone dystrophy, Hypogonadism, Retinal degeneration OMIM:615993
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
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Obesity ORPHA:411515
Pick Disease Of Brain
Polyphagia, Disinhibition OMIM:172700
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Cone-Rod Dystrophy 11
Macular atrophy, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Hypergonadotropic hypogonadism, Pituitar... ORPHA:66628
Wagner Vitreoretinopathy
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... OMIM:143200
Chromosome Xq26.3 Duplication Syndrome
Polyphagia, Hypopituitarism, Elevated circulating growth hormone concentration, Increased circula... OMIM:300942
Bardet-Biedl Syndrome 2
Obesity, Rod-cone dystrophy, Hypogonadism, Retinal degeneration OMIM:615981
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Hype... ORPHA:40
X-Linked Acrogigantism
Polyphagia, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality of op... ORPHA:300373
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Overweight, Retinal atrophy, Cone/cone-rod dystrophy, Hyperautofluoresce... OMIM:617406
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Hypergonadotropic hypogonadism, Pituitar... ORPHA:179494
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Frontotemporal Dementia
Polyphagia, Disinhibition OMIM:600274
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Huntington Disease
Polyphagia, Abnormal libido, Decreased body mass index, Agitation, Disinhibition, Alcoholism, Ora... ORPHA:399
Dystonia 30
Hypothalamic hamartoma, Impulsivity OMIM:619291
Gangliocytoma
Polyphagia, Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, ... ORPHA:251937
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Kyphosis, Squared-off platyspondyly, Back pain, Intervertebral space narro... OMIM:271530
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276556
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Small for gestational age, Large for gestational age, Agitation ORPHA:324575
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Bulimia, Overweight, Obesity OMIM:614651
Spermatogenic Failure 25
Cryptozoospermia, Male infertility, Non-obstructive azoospermia, Early spermatogenesis maturation... OMIM:617960
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276575
Usher Syndrome, Type Iv
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... OMIM:618144
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Non Rare In Europe: Central Precocious Puberty
Overgrowth, Hypothalamic hamartoma, Increased circulating gonadotropin level, Increased body weig... ORPHA:759
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276580
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Retinitis Pigmentosa 73
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... OMIM:616544
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity ORPHA:171706
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Schaaf-Yang Syndrome
Polyphagia, Hypogonadism, Failure to thrive in infancy, Impulsivity, Obesity OMIM:615547
Hypotonia-Cystinuria Syndrome
Polyphagia, Decreased response to growth hormone stimulation test, Failure to thrive, Hypergonado... OMIM:606407
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy OMIM:610156
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Short neck, Kyphosis, Spinal rigidity, Hyperlordosis OMIM:300718
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Hypoplasia of the odontoid pro... OMIM:609813
Retinitis Pigmentosa 4
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613731
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy OMIM:615725
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Spermatogenic Failure 30
Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility OMIM:618110
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Narcolepsy Type 1
Obesity ORPHA:2073
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Cortisone Reductase Deficiency 1
Oligomenorrhea, Obesity, Infertility OMIM:604931
Sim1-Related Prader-Willi-Like Syndrome
Polyphagia, Primary amenorrhea, Hypogonadism, Chorioretinal hypopigmentation, Small pituitary gla... ORPHA:398079
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Dysphagia, Decreased thalamic volume, Failure to thrive OMIM:613668
Retinitis Pigmentosa 38
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy OMIM:613862
Chromosome Xq21 Deletion Syndrome
Obesity, Choroideremia, Chorioretinal atrophy, Chorioretinal degeneration OMIM:303110
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Retinal degeneration, Optic atrophy, Reduced sperm motility, Rod-cone dy... OMIM:602271
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Bardet-Biedl Syndrome 7
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615984
Spastic Paraplegia 11, Autosomal Recessive
Dysphagia, Obesity, Macular degeneration, Retinal degeneration OMIM:604360
Luscan-Lumish Syndrome
Polyphagia, Irregular menstruation, Overgrowth, Obesity OMIM:616831
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Overweight, Retinal degeneration, Dysphagia, Obesity ORPHA:2822
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Retinitis Pigmentosa 90
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... OMIM:619007
Bardet-Biedl Syndrome 17
Macular atrophy, Hypogonadism, Cone/cone-rod dystrophy, Retinal degeneration, Polydipsia, Bone sp... OMIM:615994
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615985
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Macular dystrophy, Drusen, Choroidal neovascul... OMIM:608161
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Hypoplasia of the ovary, Primary amenorrhea, Obesity, Pigmentary retinopathy,... ORPHA:2235
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Obesity OMIM:240900
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:613464
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Obesity OMIM:615703
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Rod-cone dystrophy, Hypogonadism, Retinal coloboma OMIM:601794
Achromatopsia
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... ORPHA:49382
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis OMIM:236660
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Insulinoma
Polyphagia, Pituitary prolactin cell adenoma, Increased body weight ORPHA:97279
Xq27.3Q28 Duplication Syndrome
Premature ovarian insufficiency, Failure to thrive, Hypogonadism, Truncal obesity ORPHA:261483
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Retinal coloboma, Hypogonadism, Obesity ORPHA:363741
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Attention deficit hyperactivity disorder, Obesity OMIM:613670
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:601718
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... OMIM:614500
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Microphthalmia, Isolated 5
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... OMIM:611040
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Restlessness, Agitation OMIM:300438
Retinitis Pigmentosa 88
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... OMIM:618826
Spinocerebellar Ataxia 7
Dysphagia, Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Summitt Syndrome
Obesity OMIM:272350
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Familial Peripheral Male-Limited Precocious Puberty
Tall stature, Attention deficit hyperactivity disorder, Oligospermia, Male infertility ORPHA:3000
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... OMIM:613750
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Obesity OMIM:184700
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia, Primary amenorrhea, Hypogonadism, Chorioretinal hypopigmentation, Small pituitary gla... ORPHA:398069
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Abnormal retinal morphology on macular OCT, Macular dystrophy, Obesity ORPHA:251004
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity ORPHA:228402
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:616108
Cebalid Syndrome
Polyphagia OMIM:618774
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Attention deficit hyperactivity disorder, Optic disc... OMIM:618195
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Kyphosis ORPHA:1875
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Attention deficit hyperactivity disorder, Interhypothalamic adhesion, Impulsivity OMIM:618929
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Retinal dystrophy OMIM:616756
Sandhoff Disease
Hepatomegaly, Kyphosis, Splenomegaly ORPHA:796
Winchester Syndrome
Kyphosis OMIM:277950
Bardet-Biedl Syndrome 19
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615996
Senior-Loken Syndrome 9
Retinal dystrophy, Hypogonadism, Macular degeneration, Rod-cone dystrophy, Obesity OMIM:616629
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Small for gestational age, Primary amenorrhea, Decreased response to growth hormone s... ORPHA:98754
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Decreased response to growth hormone stimulation test, Abdominal obesity, Anteri... OMIM:618160
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Retinitis Pigmentosa
Hypogonadism, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic at... ORPHA:791
Mehmo Syndrome
Male hypogonadism, Small for gestational age, Decreased response to growth hormone stimulation te... OMIM:300148
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Alexander Disease Type I
Dysphagia, Abnormal thalamic MRI signal intensity, Cachexia, Failure to thrive ORPHA:363717
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Obesity ORPHA:141333
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Small for gestational age, Primary amenorrhea, Decreased response to growth hormone s... ORPHA:98793
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Retinitis Pigmentosa 84
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:618220
Duplication Of The Pituitary Gland
Decreased body weight, Abnormal hypothalamus morphology, Congenital stationary night blindness, A... ORPHA:314621
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Small for gestational age, Primary amenorrhea, Decreased response to growth hormone s... ORPHA:177904
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Focal T2 hyperintense thalamic lesion, Retinal degener... ORPHA:79264
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Small for gestational age, Primary amenorrhea, Decreased response to growth hormone s... ORPHA:177901
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Obesity OMIM:264120
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Macular Degeneration, Age-Related, 3
Macular degeneration, Drusen, Choroidal neovascularization OMIM:608895
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy, Obesity OMIM:245800
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Hypogonadism, Obesity ORPHA:2233
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:613660
Myopia, High, With Cataract And Vitreoretinal Degeneration
Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema OMIM:180104
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Mehmo Syndrome
Obesity, Agitation ORPHA:85282
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Spermatogenic Failure 38
Abnormal sperm head morphology, Oligospermia, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618433
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormal testis morphology, Scoliosis, Kyphosis ORPHA:1548
Angelman Syndrome
Polyphagia, Hyperactivity, Optic disc pallor, Dysphagia, Delayed menarche, Optic atrophy, Obesity ORPHA:72
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:600151
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Wagro Syndrome
Polyphagia, Obesity, Agitation OMIM:612469
Prader-Willi-Like Syndrome
Polyphagia, Small for gestational age, Primary amenorrhea, Decreased response to growth hormone s... ORPHA:398073
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity ORPHA:444002
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Retinitis Pigmentosa 86
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:618613
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Prader-Willi Syndrome
Polyphagia, Oligomenorrhea, Primary amenorrhea, Failure to thrive in infancy, Attention deficit h... OMIM:176270
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Prader-Willi Syndrome
Polyphagia, Primary amenorrhea, Hypogonadism, Attention deficit hyperactivity disorder, Small pit... ORPHA:739
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Hyperactivity, Failure to thrive ORPHA:525731
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Secondary Short Bowel Syndrome
Polyphagia, Weight loss, Failure to thrive ORPHA:95427
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Cryptorchidism, Scheuermann-like vertebral changes, Kyphosis, Cervical spinal canal st... OMIM:301900
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... OMIM:608553
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Disinhibition, Agitation OMIM:607485
Adiposis Dolorosa
Obesity OMIM:103200
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy OMIM:604393
Obsolete: Early-Onset Schizophrenia
Polyphagia, Restlessness, Decreased male libido, Decreased female libido, Attention deficit hyper... ORPHA:96369
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Horizontal sacrum OMIM:112350
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Small for gestational age, Focal T2 hyperintense thalamic lesion OMIM:619057
Chung-Jansen Syndrome
Obesity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617991
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Scoliosis, Kyphosis, Anterior beaking of lumbar vertebrae OMIM:230650
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Distal 16P11.2 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder, Rod-cone dystrophy, Retinal dystrophy ORPHA:261222
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Inc... OMIM:615300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Secondary amenorrhea, Hypergonadotropic hypogonadism, Abnormality of retinal pigmentation ORPHA:3085
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... OMIM:617460
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis OMIM:618234
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dysphagia, Thalamic calcification OMIM:618317
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... ORPHA:364055
Non-Specific Early-Onset Epileptic Encephalopathy
Attention deficit hyperactivity disorder, Retinal degeneration, Failure to thrive, Optic atrophy,... ORPHA:442835
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Cryptorchidism, Kyphosis OMIM:618512
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinitis Pigmentosa 10
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180105
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Hyperactivity, Obesity OMIM:301013
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Ring Chromosome Y Syndrome
Female infertility, Azoospermia, Streak ovary, Male infertility, Abnormal spermatogenesis, Male h... ORPHA:261529
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Panhypophysitis
Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Decreased ... ORPHA:95513
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness ORPHA:75382
Pseudohypoparathyroidism Type 1C
Polyphagia, Oligomenorrhea, Decreased response to growth hormone stimulation test, Hypergonadotro... ORPHA:79444
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Macular dots, Macular crystals, Retinal pigment epithelia... OMIM:270200
Spermatogenic Failure 77
Elevated circulating follicle stimulating hormone level, Azoospermia, Multiflagellar spermatozoa,... OMIM:620103
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... OMIM:612095
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly,... ORPHA:139507
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin... OMIM:145350
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Alg6-Cdg
Rod-cone dystrophy, Failure to thrive, Retinal degeneration ORPHA:79320
Spermatogenic Failure 14
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:615842
Spermatogenic Failure, X-Linked, 4
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:301077
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Combined Oxidative Phosphorylation Deficiency 54
Primary amenorrhea, Optic disc pallor, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis... OMIM:619737
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonadism OMIM:300869
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Eunuchoid habitus, Hypogonadism, Obesity ORPHA:2234
Perlman Syndrome
Cryptorchidism, Hepatomegaly, Abnormal pancreas morphology ORPHA:2849
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Trisomy 5P
Obesity ORPHA:1742
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Disinhibition, T2 hypointense thalamus OMIM:618193
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Cryptorchidism, Short neck ORPHA:178148
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Obesity ORPHA:480907
Hsd10 Disease, Infantile Type
Restlessness, Retinal degeneration, Dysphagia, Optic atrophy, Rod-cone dystrophy ORPHA:391428
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Growth Hormone Insensitivity Syndrome
Truncal obesity, Hypogonadism, Failure to thrive ORPHA:181393
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618086
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:605231
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Platyspondyly OMIM:313420
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Rod-cone dystrophy, Obesity OMIM:615633
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital stationary night blindness, Obesity ORPHA:352530
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy, Neonatal death OMIM:610127
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Macular coloboma, Attenuation of retina... OMIM:619260
Retinitis Pigmentosa 58
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613617
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Kyphosis, Cryptorchidism, Short neck OMIM:611890
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Hypergonadotropic hypogonadism, Infertility, Tall statu... ORPHA:10
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Tall stature, Azoospermia, Increased cir... ORPHA:8
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility OMIM:108420
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy... ORPHA:52427
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity OMIM:613192
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613581
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Poretti-Boltshauser Syndrome
Retinal dystrophy, Retinal thinning, Retinal atrophy OMIM:615960
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Truncal obesity, Bone spicule pigmentation of the retina, At... OMIM:617547
Exudative Vitreoretinopathy 6
Retinal exudate, Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal... OMIM:616468
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Overweight, Inappropriately normal thyroid-stimulati... OMIM:300888
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Pseudohypoparathyroidism Type 1A
Polyphagia, Oligomenorrhea, Decreased response to growth hormone stimulation test, Hypergonadotro... ORPHA:79443
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Lumbar hyperlordosis, Short neck, Kyphosis, Hump-shaped mound of bone in central and p... OMIM:313400
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Truncal obesity ORPHA:2928
Metatropic Dysplasia
Scoliosis, Kyphosis, Hypoplastic cervical vertebrae, Abnormal intervertebral disk morphology, Abn... ORPHA:2635
Hall-Riggs Mental Retardation Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Amoebiasis Due To Free-Living Amoebae
Restlessness, Abnormal hypothalamus morphology ORPHA:68
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Hyperactivity, Obesity OMIM:618089
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity OMIM:610628
Brachyolmia Type 3
Platyspondyly, Scoliosis, Kyphosis, Short neck OMIM:113500
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Obesity ORPHA:3077
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphoscoliosis, Kyphosis, Cryptorchidism OMIM:618484
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... ORPHA:67042
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Summitt Syndrome
Tall stature, Obesity ORPHA:3210
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Retinal degeneration OMIM:615630
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Mucolipidosis Iii Gamma
Kyphosis, Scoliosis, Hyperlordosis, Short neck OMIM:252605
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness ORPHA:251028
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type