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

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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 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 Hind Leg and Hip

32 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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X-ray

XRay Images Whole Body Lateral Orientation

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
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615995
Bardet-Biedl Syndrome
Cryptorchidism, Obesity, Pigmentary retinopathy, Hypoplasia of the ovary, Hypogonadism 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
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Abnormal e... OMIM:614963
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy, P... OMIM:617119
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Tall stature OMIM:618406
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Leptin Deficiency Or Dysfunction
Obesity, Primary amenorrhea, Hypogonadism, Polyphagia, Decreased testicular size OMIM:614962
Obesity And Hypopigmentation
Overgrowth, Polyphagia, Obesity OMIM:620195
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... OMIM:615990
Bardet-Biedl Syndrome 11
Retinopathy, Hypogonadism, Obesity OMIM:615988
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Pituitar... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Pituitar... ORPHA:71526
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Polydi... OMIM:615986
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Aggressive behavior ORPHA:329249
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity OMIM:615987
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity ORPHA:75858
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615995
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615983
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity, Attention deficit hyperactivity disorder ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... OMIM:609734
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Dystonia 30
Impulsivity, Hypothalamic hamartoma, Compulsive behaviors, Aggressive behavior OMIM:619291
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:254516
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Bardet-Biedl Syndrome 4
Cryptorchidism, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Oliver-Mcfarlane Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypogonadotropi... OMIM:275400
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
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
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Hypogonadism, Obesity, Retinal degeneration OMIM:615993
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Huntington Disease
Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol u... ORPHA:399
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... ORPHA:33543
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... ORPHA:66628
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:3363
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Primary amenorrhea, Hypoplasia... ORPHA:179494
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Overgrowth, Increased circu... OMIM:300942
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Overweight, ... OMIM:617406
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Hypogonadism, Obesity, Retinal degeneration OMIM:615981
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
X-Linked Acrogigantism
Increased body mass index, Enlarged pituitary gland, Abnormal optic chiasm morphology, Elevated c... ORPHA:300373
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276556
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Obesity, Hypogonadism, Skin-picking, P... OMIM:615547
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Obesity ORPHA:85274
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Agitation, Polyphagia, Large for gestational age ORPHA:324575
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Abdominal obesity, Ch... ORPHA:398079
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Optic atrophy, Obesity OMIM:614651
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
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
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Self-injurious behavior, Polyphagi... ORPHA:228402
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276575
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276580
Luscan-Lumish Syndrome
Aggressive behavior, Irregular menstruation, Obesity, Overgrowth, Polyphagia OMIM:616831
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Overgrowth, Hypothal... ORPHA:649929
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity OMIM:610156
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Decreased response to growth hormone stimulation test, Hypergonado... OMIM:606407
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Narcolepsy Type 1
Obesity ORPHA:2073
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea OMIM:604931
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Chromosome Xq21 Deletion Syndrome
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration OMIM:303110
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Failure to thrive, Decreased thalamic volume, Dysphagia OMIM:613668
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy OMIM:601794
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Obesity, Retinal degeneration, Dysphagia OMIM:604360
Bardet-Biedl Syndrome 7
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615984
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Cryptorchidism, Increased body weight, Primary amenorrhea, Abdominal obesity, Chorio... ORPHA:398069
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Reduced sperm m... OMIM:602271
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy ORPHA:363741
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity, Dysphagia, Hypothalamic atrophy, Retinal degeneration ORPHA:2822
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Optic atrophy, Agitation, Retinal degeneration OMIM:300438
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:261483
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... OMIM:300148
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Hypog... OMIM:615994
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615985
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... OMIM:613464
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity ORPHA:3055
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Obesity, Oligozoospermia OMIM:615703
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia, Decreased testicular size OMIM:612469
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
Insulinoma
Pituitary prolactin cell adenoma, Polyphagia, Increased body weight ORPHA:97279
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Duplication Of The Pituitary Gland
Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Decreased body weight, Con... ORPHA:314621
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Decreased response to growth hormone stimulation te... ORPHA:98793
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Cryptorchidism, Interhypothalamic adhesion, Self-injurious behavior, Attention defic... OMIM:618929
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Decreased response to growth hormone stimulation te... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Decreased response to growth hormone stimulation te... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:98754
Angelman Syndrome
Optic disc pallor, Hyperactivity, Aggressive behavior, Tongue thrusting, Optic atrophy, Obesity, ... ORPHA:72
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Oligozoospermia, Attention deficit hyperactivity disorder, Macroorchidism, Tall... ORPHA:3000
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Dysphagia OMIM:164500
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Summitt Syndrome
Obesity OMIM:272350
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Trisomy 18P
Bilateral cryptorchidism, Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Abnormal retinal morphology on macular OCT, Polyphagia, Obesity ORPHA:251004
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Macroorchi... ORPHA:3077
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Polycystic Ovary Syndrome 1
Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity ORPHA:171706
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Focal T2 hyperintense thalamic lesion, Dysphagia, Abno... ORPHA:79264
Mehmo Syndrome
Cryptorchidism, Agitation, Obesity ORPHA:85282
Cebalid Syndrome
Polyphagia OMIM:618774
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Abnormal testis morphology, Hypogonadism, Obesity ORPHA:2233
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Retinal dystrophy, Obesity OMIM:616756
Sandhoff Disease
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:796
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Obesity... ORPHA:791
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
Senior-Loken Syndrome 9
Retinal dystrophy, Obesity, Macular degeneration, Hypogonadism, Rod-cone dystrophy OMIM:616629
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Chung-Jansen Syndrome
Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, Attention deficit hyperactivity disorder OMIM:617991
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Compulsive behaviors ORPHA:397725
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Alexander Disease Type I
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia, Dysphagia ORPHA:363717
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy, Obesity OMIM:245800
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Choroidal neovascularization OMIM:608895
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Prader-Willi Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hypogonadotr... OMIM:176270
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:600151
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Adiposis Dolorosa
Obesity OMIM:103200
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Primary amenorrhea, Abdomi... ORPHA:739
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Sec... ORPHA:3085
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615996
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Pediatric-Onset Graves Disease
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Rod-cone dystrophy, Obesity OMIM:615633
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal st... OMIM:301900
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Focal T2 hyperintense thalamic lesion, Small for gestational age OMIM:619057
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Obsessive-compulsive trait, Hypothalamic hamartoma, Attention deficit hyperactivi... OMIM:619908
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hepatomegaly OMIM:618234
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification, Dysphagia OMIM:618317
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Distal 16P11.2 Microdeletion Syndrome
Rod-cone dystrophy, Retinal dystrophy, Obesity, Attention deficit hyperactivity disorder ORPHA:261222
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Prolonged neonatal jaundice, Cryptorchidism OMIM:618512
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Decreased fertility, Obesity, Hypogonadism, Decreased testicular size ORPHA:2234
48,Xxyy Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Azoospermia, Infertility, Attention defi... ORPHA:10
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Non-Specific Early-Onset Epileptic Encephalopathy
Impulsivity, Optic atrophy, Attention deficit hyperactivity disorder, Failure to thrive, Retinal ... ORPHA:442835
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Nephronophthisis 14
Retinal degeneration OMIM:614844
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnormal repe... OMIM:600430
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification, Motor tics OMIM:615483
Hsd10 Disease, Infantile Type
Restlessness, Optic atrophy, Dysphagia, Rod-cone dystrophy, Paroxysmal bursts of laughter, Retina... ORPHA:391428
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Decreased testicular ... OMIM:610628
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Alg6-Cdg
Rod-cone dystrophy, Failure to thrive, Retinal degeneration ORPHA:79320
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesity, Primary a... OMIM:619737
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Restlessness, Aggressive behavior, Cryptorchidism, Polyphagia, Self-mu... ORPHA:251028
Trisomy 5P
Obesity ORPHA:1742
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
47,Xyy Syndrome
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:8
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity, Oral-pharyngeal dysphagia ORPHA:480907
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Panhypophysitis
Decreased female libido, Reduced circulating prolactin concentration, Decreased male libido, Adre... ORPHA:95513
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration OMIM:249270
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:605231
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Cryptorchidism, Polyphagia, Obesity, Self-inju... ORPHA:96121
Rafiq Syndrome
Truncal obesity, Obesity, Aggressive behavior OMIM:614202
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital stationary night blindness, Obesity ORPHA:352530
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Disinhibition OMIM:618193
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Rod-cone dystrophy, Retinal atrophy OMIM:610127
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Geographic atrophy, Retinal degeneration, A... OMIM:619260
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism, Cryptorchidism ORPHA:3459
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Temple Syndrome
Small for gestational age, Overweight, Cryptorchidism, Obesity, Truncal obesity, Decreased testic... OMIM:616222
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Kyphosis, Scoliosis, Short neck OMIM:611890
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... OMIM:618430
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, Truncal obesity, Abnormal temper ... ORPHA:404448
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Cryptorchidism, Obe... ORPHA:3157
13Q12.3 Microdeletion Syndrome
Hyperactivity, Cryptorchidism, Obesity, Failure to thrive, Self-mutilation ORPHA:412035
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Weaver Syndrome
Hydrocele testis, Cryptorchidism, Overgrowth, Polyphagia OMIM:277590
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618089
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Premature ovarian insufficiency ORPHA:2928
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Restlessness ORPHA:68
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Summitt Syndrome
Obesity, Tall stature ORPHA:3210
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism OMIM:618484
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Retinal degeneration OMIM:615630
Laurence-Moon Syndrome
Cryptorchidism, Obesity ORPHA:2377
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Obesity, Bruxism, Macroorchidism, Male hypogonadism OMIM:300055
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Aggressive behavior, Cryptorchidism, Abdominal obesity, Hypogonadism, Decreased te... OMIM:300354
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Hyperactivity, Obesity OMIM:614613
Microtriplication 11Q24.1
Obesity, Bruxism ORPHA:289522
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation ORPHA:816
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... ORPHA:98794
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Optic disc pallor, Dysphagia ORPHA:1947
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Aggressive behavior, Adrenocorticotropic h... ORPHA:293987
Idiopathic Intracranial Hypertension
Papilledema, Obesity ORPHA:238624
Wagr Syndrome
Cryptorchidism, Obesity ORPHA:893
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:616562
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Hypogonadism, Infertility, Oligomenorrhea, Dysphagia, Delayed menarche ORPHA:412057
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Aggressive behavior OMIM:620191
Cach Syndrome
Premature ovarian insufficiency, T2 hypointense thalamus, Optic atrophy, Primary amenorrhea, Seco... ORPHA:135
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Obsessive-compulsive trait, Abnormal repetitive mannerisms, R... ORPHA:168491
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Retinal dystrophy, Obesity ORPHA:464282
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism ORPHA:2617
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Attention ... OMIM:301039
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Aggressive behavior OMIM:619056
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... OMIM:209900
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Clark-Baraitser syndrome
Macroorchidism, Obesity, Tall stature OMIM:300602
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... OMIM:613843
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Baralle-Macken Syndrome
Obesity OMIM:619255
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology, Attention deficit hyperactivity disorder ORPHA:467166
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Mcdonough Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2471
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Obesity, Skin-picking, Abnormal temper tantrums, Self-mutilat... ORPHA:163681
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Scheie Syndrome
Retinal degeneration OMIM:607016
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Adenohypophysitis
Decreased female libido, Reduced circulating prolactin concentration, Decreased male libido, Adre... ORPHA:95512
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Dysphagia OMIM:619780
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... ORPHA:1435
Joubert Syndrome 6
Retinal degeneration, Abnormal repetitive mannerisms, Chorioretinal coloboma OMIM:610688
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Decreased body weight, Obesity, Dysphagia ORPHA:589821
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:600955
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Impulsivity, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Tics,... ORPHA:157850
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Macular degeneration, Choroidal neovascularization ORPHA:404451
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Truncal obesity, Hypogonadism, Attention deficit hypera... ORPHA:73272
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Bardet-Biedl Syndrome
Cryptorchidism, Obesity, Pigmentary retinopathy, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive, Agitation OMIM:619046
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis, Cryptorchidism OMIM:619797
Smith-Magenis Syndrome
Retinal detachment, Failure to thrive in infancy, Obesity, Self-injurious behavior, Attention def... ORPHA:819
Megalencephaly
Macroorchidism, Truncal obesity ORPHA:2477
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Sialidosis Type 2
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:87876
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Supernumerary nipple, Scoliosis ORPHA:64755
48,Xxxy Syndrome
Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Infertility, Attention deficit hyperactivity ... ORPHA:96263
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... ORPHA:478
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Obesity ORPHA:171839
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Decreased fertility, Tall stature, Decreased fertility in females OMIM:269700
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Small for gestational age, Obesity, Cryptorchidism ORPHA:96184
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:94065
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism, Decreased testicular size, Cryptorchidism OMIM:300882
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Biliary tract abnormality, Scoliosis, Short neck ORPHA:3191
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Truncal obesity, Obesity OMIM:618363
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Scoliosis, Cryptorchidism ORPHA:352490
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Dysphagia, A... OMIM:619312
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Optic atrophy, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:485421
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Alpha-Mannosidosis
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Scoliosis ORPHA:61
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:180870
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Tall stature, Decreased fertility in females OMIM:608594
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
1P36 Deletion Syndrome
Cryptorchidism, Polyphagia, Obesity, Optic atrophy, Ocular albinism, Self-injurious behavior, Hyp... ORPHA:1606
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619680
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:3409
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Truncal obesity, Attention deficit hyperactivity disorder ORPHA:284180
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Decreased testicular size, Truncal obesity, Hypogonadism, Self-mutilation ORPHA:3041
Combined Oxidative Phosphorylation Defect Type 7
Failure to thrive, Optic atrophy, Abnormal thalamic MRI signal intensity, Oral-pharyngeal dysphagia ORPHA:254930
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy, Obesity OMIM:612291
White-Sutton Syndrome
Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Rod-cone dystrophy, Obesity, Self-inj... OMIM:616364
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Sheehan Syndrome
Dyspareunia, Decreased female libido, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Atelosteogenesis Type I
Coronal cleft vertebrae, Platyspondyly, Scoliosis, Absent or minimally ossified vertebral bodies,... ORPHA:1190
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity, Cryptorchidism OMIM:300957
Nephronophthisis 11
Polydipsia, Retinal degeneration OMIM:613550
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity, Aggressive behavior OMIM:620250
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Optic atrophy ORPHA:254881
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Obesity, Proportionate tall stature, Aggressive behavior ORPHA:404443
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity ORPHA:1035
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity ORPHA:254531
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Angioid streaks of the fundus, Failure to thrive, Retinopathy, Retinal degeneration OMIM:239000
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Decreased testicular size, Cryptorchidism OMIM:615433
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsiv... ORPHA:404440
Webb-Dattani Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:615926
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Bilateral... ORPHA:96179
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Kleefstra Syndrome 1
Aggressive behavior, Cryptorchidism, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms OMIM:610253
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... OMIM:216550
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Obesity ORPHA:464288
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Pseudopseudohypoparathyroidism
Obesity OMIM:612463
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Obesity OMIM:619185
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Abnormal thalamic MRI signal intensity... ORPHA:48818
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Rabin-Pappas Syndrome
Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal telangiectasia,... OMIM:620155
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Obesity, Cryptorchidism ORPHA:254346
Bdv Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:619326
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Streak ovary, Obesity OMIM:194072
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Cachexia, Aggressive behavior, Obesity, Hypogonadism, Decreased testicular size ORPHA:85293
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy, Reduced sperm motility OMIM:615434
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Feingold Syndrome
Abnormality of the spleen, Annular pancreas, Abnormal form of the vertebral bodies ORPHA:1305
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Macrocephaly/Autism Syndrome
Hydrocele testis, Overgrowth, Obesity, Large for gestational age OMIM:605309
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Obesity, Optic nerve dysplasia OMIM:617296
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling, Polyphagia, Self-injuriou... OMIM:620330
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Cryptorchidism, Kyphosis, Scoliosis, Hepatic steatosis OMIM:615381
Carpenter Syndrome
Cryptorchidism, Obesity ORPHA:65759
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Aggressive behavior, Cryptorchidism, Optic disc coloboma, Optic atrophy, Obesi... OMIM:607872
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Restless legs, Abnormal fundus morphology, Macular degeneration, Dysphag... ORPHA:94147
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Obesity, Pituitary adenoma, Oligomenorrhea OMIM:219090
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Cryptorchidism, Abnormal form of t... ORPHA:2311
Fucosidosis
Hepatomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar vertebrae, Acr... ORPHA:349
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Kyphosis, Hepatosplenomegaly, Short neck OMIM:608776
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy, Obesity, Self-injurious behavior, Compulsive b... ORPHA:468678
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Momo Syndrome
Large for gestational age, Obesity, Overgrowth, Chorioretinal coloboma, Tall stature ORPHA:2563
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Thoracolumbar kyphosis, Cervica... ORPHA:15
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Congenital Disorder Of Deglycosylation 2
Retinal coloboma, Hypothalamic hamartoma, Dysphagia OMIM:619775
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Momo Syndrome
Overgrowth, Obesity, Retinal coloboma OMIM:157980
Shox-Related Short Stature
Obesity ORPHA:314795
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615989
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Meningioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Reduced circulating prolact... ORPHA:2495
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Abnormal repetitive mannerisms,... OMIM:619229
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Rod-cone dystrophy, Retinal degeneration ORPHA:166035
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Aceruloplasminemia
Retinal degeneration OMIM:604290
Bardet-Biedl Syndrome 20
Papilledema, Bilateral cryptorchidism, Obesity, Retinal vascular tortuosity, Male hypogonadism, R... OMIM:619471
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... OMIM:615710
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Obesity OMIM:105830
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh... ORPHA:1001
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hypoxemia... ORPHA:456312
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Obesity, Attention deficit hyperactivity disorder ORPHA:261197
Flynn-Aird Syndrome
Kyphosis, Scoliosis ORPHA:2047
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... ORPHA:435638
Gm1-Gangliosidosis, Type I
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hypoplastic vertebral bodies, Scoliosis, Beakin... OMIM:230500
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300280
Sialidosis Type 1
Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Decreased response to growth hormone stimulation test ORPHA:324737
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Alstrom Syndrome
Cone/cone-rod dystrophy, Hypergonadotropic hypogonadism, Decreased response to growth hormone sti... OMIM:203800
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Retinal degeneration, Optic atrophy, Phonic tics, Pigmentary retinopathy, Dysphagi... OMIM:234200
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Attention d... OMIM:616078
Mody
Overweight, Retinopathy, Obesity, Large for gestational age ORPHA:552
Arthrogryposis, Distal, Type 4
Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy ORPHA:436245
Genitopalatocardiac Syndrome
Kyphosis, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism, Scoliosis ORPHA:2075
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Kleefstra Syndrome
Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Abnormal repetitive manner... ORPHA:261494
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Compulsive behaviors OMIM:618443
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Borjeson-Forssman-Lehmann Syndrome
Truncal obesity, Hypogonadism, Decreased testicular size, Cryptorchidism ORPHA:127
Mucopolysaccharidosis Type 3
Hyperactivity, Aggressive behavior, Hypersexuality, Optic atrophy, Pigmentary retinopathy, Disinh... ORPHA:581
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity OMIM:615980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
8P23.1 Microdeletion Syndrome
Cryptorchidism, Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Agitation, Secondary amenorrhea OMIM:610489
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism ORPHA:3121
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Short neck ORPHA:3082
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis ORPHA:98863
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Agitation OMIM:219080
Mucopolysaccharidosis Type 2
Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Impulsivity, Aggressive behavior... ORPHA:580
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea ORPHA:247768
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98855
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Agitation OMIM:610475
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Crypt... ORPHA:193
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:157846
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Obesity ORPHA:439822
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Obesity OMIM:612462
Laron Syndrome
Truncal obesity ORPHA:633
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Premature ovarian insufficiency, Small for gestational age, Hypergo... ORPHA:2959
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size ORPHA:813
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Retinal detachment, Optic atrophy, Decreased thalamic volume ORPHA:370959
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas, Abnormal vertebral morphology ORPHA:210122
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behav... ORPHA:369950
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Obesity OMIM:103580
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:300570
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Carpenter Syndrome 1
Cryptorchidism, Optic atrophy, Obesity OMIM:201000
Insulin-Like Growth Factor I, Resistance To
Truncal obesity, Agitation, Decreased body weight OMIM:270450
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98853
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac... ORPHA:466950
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Marinesco-Sjogren Syndrome
Kyphosis, Scoliosis OMIM:248800
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Mucopolysaccharidosis Type 6
Splenomegaly, Kyphosis, Ovoid vertebral bodies, Short neck ORPHA:583
Hurler-Scheie Syndrome
Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly OMIM:607015
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:444013
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Desbuquois Dysplasia 1
Obesity OMIM:251450
Werner Syndrome
Hypogonadism, Retinal degeneration OMIM:277700
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Harrod Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2115
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoi... OMIM:253220
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Failure to thrive, Obesity, Abnormal testis morphology ORPHA:96147
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Scoliosis, Spinal rigidity OMIM:254090
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Complete Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Testicular neoplasm, Bilateral ... ORPHA:99429
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Fai... ORPHA:79282
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli... ORPHA:2789
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, C... ORPHA:649
Down Syndrome
Decreased fertility, Obesity ORPHA:870
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Abnormal thalamic MRI signal intensity ORPHA:309155
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Cockayne Syndrome Type 2
Cryptorchidism, Kyphosis, Scoliosis, Hepatomegaly ORPHA:90322
Narcolepsy 7
Obesity OMIM:614250
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Cowden Syndrome 5
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Goiter OMIM:615108
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Short neck, Hepatic fibrosis, Polysplenia OMIM:200995
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Obesity OMIM:618493
Gaucher Disease Type 1
Hepatomegaly, Hypersplenism, Kyphosis, Splenomegaly, Cirrhosis, Vertebral compression fracture, B... ORPHA:77259
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Trisomy 13
Kyphosis, Scoliosis, Cryptorchidism ORPHA:3378
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Irregular menstruation, Increased body weight, Abdominal obesity, Abnormal libido ORPHA:189427
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Adiposis Dolorosa
Obesity ORPHA:36397
Campomelia, Cumming Type
Pancreatic cysts, Hepatomegaly, Abnormally ossified vertebrae, Abnormality of the pancreas ORPHA:1318
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Scoliosis, Cryptorchidism ORPHA:364028
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... ORPHA:529962
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepat... OMIM:610199
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Dysphagia ORPHA:247234
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Distal Deletion 12Q
Hyperactivity, Failure to thrive in infancy, Unilateral cryptorchidism, Pituitary adenoma, Obesit... ORPHA:96149
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity ORPHA:26793
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Congenital Myopathy 22A, Classic
Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity OMIM:620351
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Trichothiodystrophy
Cryptorchidism, Macular degeneration, Retinal degeneration ORPHA:33364
Cowden Syndrome 6
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Goiter OMIM:615109
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Acute Disseminated Encephalomyelitis
Optic neuritis, Abnormal thalamic MRI signal intensity, Aggressive behavior ORPHA:83597
Marden-Walker Syndrome
Cryptorchidism, Kyphosis, Scoliosis, Short neck OMIM:248700
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Hepatosplenomegaly,... ORPHA:354
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90793
Monosomy 13Q34
Metrorrhagia, Obesity ORPHA:96168
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En... ORPHA:449432
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:466943
Leigh Syndrome
Optic atrophy, Abnormal thalamic MRI signal intensity, Abnormal optic nerve morphology, Dysphagia... ORPHA:506
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Bohring-Opitz Syndrome
Sacral dimple, Supernumerary nipple, Hyperechogenic pancreas OMIM:605039
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Supernumerary nipple, Scoliosis, Cryptorchidism OMIM:619951
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Hypergonadotropic... ORPHA:64
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cache... ORPHA:191
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Failure to thrive, Impulsivity, Aggressive behavior, Overwei... OMIM:619475
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis OMIM:617190
Emanuel Syndrome
Kyphosis, Sacral dimple, Scoliosis, Cryptorchidism OMIM:609029
Chops Syndrome
Cryptorchidism, Optic atrophy, Obesity OMIM:616368
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Primary amenorrhea ORPHA:319675
Hurler Syndrome
Retinal degeneration OMIM:607014
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology, Anorexia ORPHA:79139
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Ocular albinism ORPHA:2720
Trisomy 20P
Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebral segmentati... ORPHA:261318
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Retin... OMIM:236670
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Parathyroid hyperplasia, Nodular goiter OMIM:162300
Tay-Sachs Disease
Cherry red spot of the macula, Optic atrophy, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:845
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Abdominal situs inversus, Cryptorchidism OMIM:619123
3C Syndrome
Kyphosis, Hemivertebrae, Scoliosis, Short neck ORPHA:7
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration, Aggressive behavior OMIM:618479
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617052
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Low Phospholipid-Associated Cholelithiasis
Overweight, Obesity ORPHA:69663
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Alveolar Echinococcosis
Low back pain, Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesent... ORPHA:284
Pycnodysostosis
Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepatosplenomegal... ORPHA:763
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis ORPHA:96169
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Biconcave vertebral bodies OMIM:130720
Generalized Pustular Psoriasis
Overweight, Obesity ORPHA:247353
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Oligozoospermia, Az... ORPHA:125
Cowden Syndrome 1
Kyphosis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scoliosis, Goiter OMIM:158350
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Ulnar-Mammary Syndrome
Decreased fertility, Cryptorchidism, Obesity ORPHA:3138
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia ORPHA:59315
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Optic atrophy, Obesity OMIM:614947
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis OMIM:617988
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... ORPHA:1772
Cancer-Associated Retinopathy
Optic disc pallor, Retinal pigment epithelial atrophy, Retinal atrophy, Testicular neoplasm, Fove... ORPHA:71505
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Kyphoscoliosis ORPHA:488642
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353281
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Microphthalmia, Lenz Type
Cryptorchidism, Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Retinal degeneration ORPHA:90324
Peripartum Cardiomyopathy
Obesity ORPHA:563
Hydranencephaly
Optic nerve hypoplasia, Thalamic edema, Chorioretinal atrophy, Dysgenesis of the thalamus, Atroph... ORPHA:2177
Micro Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2510
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Abnormal repetitive mannerisms, Obesity OMIM:618653
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hepatosplenomegaly OMIM:309900
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis, Cryptorchidism OMIM:619718
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Abnormal repetitive mannerisms, Obesity, Aggressive behavior OMIM:301066
Triosephosphate Isomerase Deficiency
Kyphosis, Jaundice, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis OMIM:615512
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body OMIM:618476
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hepatocellular carcinoma, Pancreatitis OMIM:232220
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Shwachman-Diamond Syndrome 2
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Cockayne Syndrome A
Retinal atrophy, Cryptorchidism, Retinal pigment epithelial mottling, Irregular menstruation, Opt... OMIM:216400
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... ORPHA:1724
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Attention deficit hyperactivity disorder ORPHA:2637
Cushing Disease
Pituitary corticotropic cell adenoma, Increased body weight, Secondary amenorrhea, Truncal obesit... ORPHA:96253
Farber Disease
Macular degeneration, Cherry red spot of the macula, Failure to thrive ORPHA:333
Congenital Analbuminemia
Small for gestational age, Obesity ORPHA:86816
Alport Syndrome
Macular degeneration, Retinal flecks, Dysphagia ORPHA:63
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:2479
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Decreased fertility, Second... ORPHA:79474
Primary Ciliary Dyskinesia
Male infertility, Rod-cone dystrophy, Abnormal sperm motility, Female infertility ORPHA:244
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Annular pancreas, Kyphoscoliosis OMIM:268400
3Q29 Microduplication Syndrome
Obesity ORPHA:251038
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... OMIM:616263
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis OMIM:616449
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2215
Distal Triplication 15Q
Hydrocele testis, Kyphosis, Scoliosis ORPHA:314588
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:261250
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Cryptorchidism, Scoliosis, Spondylolisthesis OMIM:610443
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Annular pancreas, Lumbar hyperlordosis, Scoliosis OMIM:616975
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Platyspondyly, Hepatic fibrosis OMIM:263520
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:617602
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Noonan Syndrome 14
Cryptorchidism, Kyphosis, Short neck OMIM:619745
Microphthalmia, Syndromic 3
Optic nerve aplasia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Optic nerve hy... OMIM:206900
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae, Scoliosis OMIM:301040
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retinopathy, Obesity OMIM:619269
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Kyphosis, Supernumerary nipple, Scoliosis ORPHA:261349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal degeneration OMIM:253280
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Cryptorchidism, Optic atrophy, Hypogonadism, Obesity OMIM:614231
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Jacobsen Syndrome
Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Annular pancreas ORPHA:2308
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Cryptorchidism OMIM:616541
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Scoliosis, Cryptorchidism ORPHA:500055
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypothalamic hamartoma, Ne... OMIM:146510
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Orofaciodigital Syndrome Type 6
Bilateral cryptorchidism, Failure to thrive, Hypothalamic hamartoma ORPHA:2754
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Fused cervical vertebrae, Hypoplas... OMIM:265000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Lumbar hyperlordosis, Kyphosis, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis OMIM:300966
Neutral Lipid Storage Disease With Ichthyosis
Obesity ORPHA:98907
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Hepatitis, Decreased response to growth hormone stimulation test ORPHA:1855
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
White-Kernohan Syndrome
Obesity, Attention deficit hyperactivity disorder OMIM:619426
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Optic disc hypoplasia OMIM:619306
Xylt1-Cdg
Truncal obesity ORPHA:370930
Cystinosis, Nephropathic
Male infertility, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Retinal pigment epithe... OMIM:219800
2Q31.1 Microdeletion Syndrome
Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:251014
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity ORPHA:369837
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Trisomy 8P
Sacral dimple, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Annular pancreas ORPHA:264450
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Abdominal obesity, Hypoplasia of the ov... OMIM:619321
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:212065
Jacobsen Syndrome
Cryptorchidism, Annular pancreas, Short neck OMIM:147791
Bohring-Opitz Syndrome
Severe failure to thrive, Retinal atrophy, Optic atrophy ORPHA:97297
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Pancreatic fibrosis, Decreased response to growth hormone stimu... ORPHA:699
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Prima... ORPHA:90797
22Q11.2 Deletion Syndrome
Retinal arteriolar tortuosity, Cryptorchidism, Optic atrophy, Obesity, Attention deficit hyperact... ORPHA:567
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Streak ovary, Kyphoscoliosis, Short neck, Scoliosis, Hepatoblastoma, Ann... ORPHA:798
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:476126
Dysbetalipoproteinemia
Obesity ORPHA:412
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Pancreatic fibrosis, Macronodular cirrhosis, Exocrine pancreatic insufficiency OMIM:557000
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Cryptorchidism ORPHA:536532
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Kyphosis, Scoliosis, Hepatomegaly OMIM:619005
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s... ORPHA:800
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Cholelithiasis, Scoliosis ORPHA:464738
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis ORPHA:1969
Say-Barber-Miller Syndrome
Cryptorchidism, Optic atrophy, Macular degeneration, Hypogonadism, Rod-cone dystrophy ORPHA:3132
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Pan... ORPHA:564
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Obesity, Bruxism ORPHA:48652
Marshall-Smith Syndrome
Thoracic scoliosis, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia of the odontoid process,... OMIM:602535
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Scoliosis OMIM:616894
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Mgat2-Cdg
Kyphosis, Hypoplastic nipples, Scoliosis ORPHA:79329
Alexander Disease
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:58
Osteopetrosis With Renal Tubular Acidosis
Abnormal retinal morphology, Failure to thrive, Optic atrophy, Retinal atrophy ORPHA:2785
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ... ORPHA:251510
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353277
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Increased circ... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Increased circ... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Increased circ... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Increased circ... ORPHA:881
Carney Complex
Sertoli cell neoplasm, Elevated circulating growth hormone concentration, Testicular neoplasm, In... ORPHA:1359
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Vitreous hemorrhage, Retinal hemorrhage ORPHA:464321
Kabuki Syndrome
Cryptorchidism, Failure to thrive, Obesity ORPHA:2322
Orofaciodigital Syndrome Vi
Failure to thrive, Hypothalamic hamartoma OMIM:277170
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... ORPHA:3042
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidis... ORPHA:116
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Abnorm... ORPHA:93111
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Ovarian fibroma, Short neck ORPHA:77301
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Wolf-Hirschhorn Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Abnormality of the gallbladder, Abnormal form of the ver... ORPHA:280
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Failure to thrive, Retinal dystrophy, Macular degeneration, Rod-cone dystrophy, Attenuation of re... OMIM:266920
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Cdags Syndrome
Kyphosis OMIM:603116
Classic Homocystinuria
Kyphosis, Scoliosis, Hepatomegaly ORPHA:394
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity OMIM:210720
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis OMIM:618050
Neutral Lipid Storage Myopathy
Obesity, Pineal cyst ORPHA:98908
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Cryptorchidism, Posterior pituitary hypoplasia, Scoliosis, Abnormality of the cervical ... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Kyphosis, Cryptorchidism, Scoliosis, Abnormality of the cervical s... ORPHA:464306
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Cryptorchidism, Paroxysmal bursts of laughter, Optic atrophy, Obesity, Hypogonadis... OMIM:309580
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Pituitary corticotropic cell adenoma, Increased body weight, Secondary amenorrhea, Weig... ORPHA:99889
Gaisböck Syndrome
Overweight, Obesity ORPHA:90041
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age OMIM:227650
Fryns Syndrome
Cryptorchidism, Ectopic pancreatic tissue, Polysplenia, Short neck OMIM:229850
Williams Syndrome
Failure to thrive in infancy, Hypogonadotropic hypogonadism, Retinal arteriolar tortuosity, Crypt... ORPHA:904
Myhre Syndrome
Cryptorchidism, Small for gestational age, Obesity OMIM:139210
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Annular pancreas OMIM:227646
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis OMIM:619194
Hajdu-Cheney Syndrome
Hepatomegaly, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomegaly, Scoliosis, Bi... ORPHA:955
Poland Syndrome
Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Vertebral segmentation defect, Abnormality o... ORPHA:2911
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Aspartylglucosaminuria
Hepatomegaly, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of verte... OMIM:208400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Obesity, Decreased response to growth hormone stimulation test ORPHA:444077
Rubinstein-Taybi Syndrome 1
Hyperactivity, Small for gestational age, Impulsivity, Bilateral cryptorchidism, Cryptorchidism, ... OMIM:180849
Witteveen-Kolk Syndrome
Hyperactivity, Small for gestational age, Decreased response to growth hormone stimulation test, ... OMIM:613406
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis ORPHA:1507
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Kyphosis ORPHA:521426
Pallister-Hall Syndrome
Decreased testicular size, Large for gestational age, Cryptorchidism, Adrenocorticotropic hormone... ORPHA:672
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Camurati-Engelmann Disease
Hepatomegaly, Hyperlordosis, Kyphosis, Splenomegaly, Abnormality of the vertebral column, Scoliosis ORPHA:1328
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Optic disc coloboma, Failure to thrive, Obesity OMIM:617157
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Decreased response to growth hormone stimulation test, Testicular neoplasm, Hyperl... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Decreased response to growth hormone stimulation test, Testicular neoplasm, Hyperl... ORPHA:363958
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Butterfly vertebrae OMIM:265380
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis OMIM:619708
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity OMIM:301072
Ramon Syndrome
Kyphosis, Scoliosis OMIM:266270
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Smith-Lemli-Opitz Syndrome
Short neck, Cryptorchidism, Kyphosis, Abnormality of the gallbladder, Abnormal form of the verteb... ORPHA:818
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Obesity, Anterior pituitary hypoplasia OMIM:181450
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis ORPHA:198
Marden-Walker Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2461
Lysinuric Protein Intolerance
Truncal obesity, Failure to thrive OMIM:222700
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Cryptorchidism, Kyphosis, Pineal cyst, Scoliosis OMIM:300967
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
Cowden Syndrome
Enlarged polycystic ovaries, Kyphosis, Adenoma sebaceum, Scoliosis, Goiter ORPHA:201
Mend Syndrome
Kyphosis, Sacral dimple, Cryptorchidism ORPHA:401973
Mend Syndrome
Kyphosis, Sacral dimple, Cryptorchidism OMIM:300960
Mucolipidosis Type Ii
Splenomegaly, Kyphosis, Hepatosplenomegaly ORPHA:576
Primrose Syndrome
Restlessness, Hypergonadotropic hypogonadism, Aggressive behavior, Bilateral cryptorchidism, Cryp... OMIM:259050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Failure to thrive, Abnormal repetitive mannerisms, Truncal obesity OMIM:612474
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, P... ORPHA:268261
Cornelia De Lange Syndrome
Cryptorchidism, Primary amenorrhea, Truncal obesity, Compulsive behaviors, Attention deficit hype... ORPHA:199
Carpenter Syndrome 2
Bilateral cryptorchidism, Cryptorchidism, Obesity OMIM:614976
Zttk Syndrome
Kyphosis, Hemivertebrae, Scoliosis, Absent gallbladder OMIM:617140
Williams-Beuren Syndrome
Failure to thrive in infancy, Retinal arteriolar tortuosity, Obesity, Attention deficit hyperacti... OMIM:194050
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Orofaciodigital Syndrome I
Hypothalamic hamartoma OMIM:311200
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Somatomammotropinoma
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Spinal canal sten... ORPHA:314769
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2658
Cockayne Syndrome B
Cryptorchidism, Kyphosis, Splenomegaly, Hepatomegaly OMIM:133540
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... ORPHA:666
Digeorge Syndrome
Hydrocele testis, Obesity, Attention deficit hyperactivity disorder OMIM:188400
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Kyphosis, Cryptorchidism, Platyspondyly, Scoliosis ORPHA:534
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Kyphosis, Cryptorchidism, Biliary tract abnorm... OMIM:194190
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Coffin-Lowry Syndrome
Kyphosis, Acrocyanosis, Scoliosis, Lumbar kyphosis OMIM:303600
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
Acromegaly
Elevated circulating growth hormone concentration, Kyphosis, Spinal canal stenosis, Pituitary pro... ORPHA:963
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:828
Marfan Syndrome
Kyphosis, Scoliosis, Spondylolisthesis ORPHA:558
Neurofibromatosis Type 1
Kyphosis, Pheochromocytoma, Scoliosis, Cryptorchidism ORPHA:636
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Scoliosis, Cryptorchidism OMIM:309000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ... ORPHA:2273
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Abn... ORPHA:744
Coffin-Siris Syndrome 1
Sacral dimple, Kyphosis, Cryptorchidism, Scoliosis, Spina bifida occulta OMIM:135900
17Q11 Microdeletion Syndrome
Kyphosis, Abnormality of the vertebral column, Pheochromocytoma, Beaking of vertebral bodies T12-... ORPHA:97685
Wrinkly Skin Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:278250
Branchiooculofacial Syndrome
Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis OMIM:113620
Pallister-Killian Syndrome
Cryptorchidism, Stillbirth, Obesity OMIM:601803
Sotos Syndrome
Sacrococcygeal teratoma, Cryptorchidism, Kyphosis, Hydrocele testis, Scoliosis, Prolonged neonata... ORPHA:821
Viss Syndrome
Kyphosis, Butterfly vertebrae, Scoliosis OMIM:619472
Yunis-Varon Syndrome
Absent nipple, Anterior concavity of thoracic vertebrae, Kyphosis, Cryptorchidism, Hypoplastic ni... OMIM:216340

Histopathology

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

There is no histopathology data for Bbip1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bbip1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance. EMBO reports (January 2021) Bbip1em1(IMPC)Ccpcz 33426789

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MGI Allele Allele Type Produced
Bbip1em1(IMPC)Ccpcz Whole-gene deletion Mice

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