Gene Summary

Name:
Bardet-Biedl syndrome 7 (human)
Synonyms:
8430406N16Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased circulating alanine transaminase level Bbs7tm1b(EUCOMM)Wtsi HET Early adult 1.47×10-09
increased circulating sodium level Bbs7tm1b(EUCOMM)Wtsi HET Early adult 1.05×10-08
preweaning lethality, incomplete penetrance Bbs7tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal lens morphology Bbs7tm1b(EUCOMM)Wtsi HET Early adult 1.87×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote Ambiguous
Spinal cord  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 0.0% (0 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.37% (2 of 547)
aorta 0.0%
brain 0.72% (4 of 556)
brainstem 0.36% (2 of 557)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 553)
cerebellum 0.55% (3 of 546)
cerebral cortex 0.36% (2 of 555)
epididymis 14.49% (20 of 138)
esophagus 1.57% (6 of 383)
eye 0.0%
heart 0.36% (2 of 559)
hippocampus 0.55% (3 of 544)
hypothalamus 0.36% (2 of 550)
kidney 4.83% (27 of 559)
large intestine 5.25% (29 of 552)
liver 0.0%
lower urinary tract 0.18% (1 of 552)
lung 0.36% (2 of 550)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 545)
ovary 0.18% (1 of 560)
oviduct 0.0%
pancreas 0.91% (5 of 550)
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.4% (30 of 556)
spinal cord 0.54% (3 of 557)
spleen 0.55% (3 of 543)
stomach 3.78% (21 of 556)
striatum 0.55% (3 of 546)
submandibular gland 1.53% (2 of 131)
testis 1.09% (6 of 550)
thalamus 0.0%
thymus 0.18% (1 of 551)
thyroid gland 3.1% (17 of 549)
trachea 0.54% (3 of 555)
urinary bladder 0.0%
uterus 0.37% (2 of 541)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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

9 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Adult LacZ

LacZ Images Section

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Bbs7 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 Bbs7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bardet-Biedl Syndrome 7
Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615984
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Pigmentary retinopathy, Hypogonadism, Obesity, Cryp... ORPHA:110

The table below shows human diseases predicted to be associated to Bbs7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Bardet-Biedl Syndrome 11
Obesity, Retinopathy, Hypogonadism OMIM:615988
Bardet-Biedl Syndrome 12
Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615989
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Bardet-Biedl Syndrome 5
Macular dystrophy, External genital hypoplasia, Rod-cone dystrophy, Micropenis, Hypogonadism, Obe... OMIM:615983
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Retinal dystrophy, Truncal obesity, Micropenis OMIM:610156
Bardet-Biedl Syndrome 16
External genital hypoplasia, Rod-cone dystrophy, Retinal degeneration, Hypogonadism, Obesity OMIM:615993
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Bardet-Biedl Syndrome 10
Obesity, Retinal dystrophy, Rod-cone dystrophy, Hypogonadism OMIM:615987
Bardet-Biedl Syndrome 22
Rod-cone dystrophy, Large for gestational age, Polyphagia, Macular hypopigmentation, Hypogonadism... OMIM:617119
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Retinal degeneration, Small for gestational age, Decreased response to growt... OMIM:275400
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... OMIM:615990
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Bardet-Biedl Syndrome 4
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Cry... OMIM:615982
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Bardet-Biedl Syndrome 14
Obesity, Rod-cone dystrophy OMIM:615991
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529808
Morm Syndrome
Retinal dystrophy, Retinal atrophy, Truncal obesity, Micropenis ORPHA:75858
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Pulverulent cataract, Nuclear cataract OMIM:600886
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Bardet-Biedl Syndrome 18
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Bardet-Biedl Syndrome 9
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Irregular menstruation, Attenuation of reti... OMIM:615986
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Abnormal eating behavior, Polyphagia, Decreased testicular size, ... OMIM:614962
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Hypogonadism, Obesity, Cryptorchidism ORPHA:85274
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, External genital hypoplasia, Rod-cone dystrophy OMIM:268010
Bardet-Biedl Syndrome 2
External genital hypoplasia, Rod-cone dystrophy, Retinal degeneration, Hypogonadism, Obesity OMIM:615981
Central Precocious Puberty
Hydrocephalus, Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Overgro... ORPHA:759
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Bardet-Biedl Syndrome 19
Obesity, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism OMIM:615996
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Obesity, Azoospermia OMIM:615703
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Ventriculomegaly, Retinal degeneration OMIM:225755
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Micropenis, Ven... OMIM:300148
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus, Obesity ORPHA:2183
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... OMIM:614963
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Temple Syndrome
Hydrocephalus, Precocious puberty, Decreased response to growth hormone stimulation test, Small f... ORPHA:254516
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Trisomy 5P
Obesity, Hypoplasia of penis, Ventriculomegaly ORPHA:1742
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Biemond Syndrome Type 2
Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Obesity ORPHA:141333
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Reduced sperm motility, Cone/cone-rod dystrophy, Optic ... OMIM:602271
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Macular degeneration, Dysphagia, Obesity, Agenesis of corpus callosum OMIM:604360
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Bardet-Biedl Syndrome 7
Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615984
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Macular degeneration ORPHA:85334
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity, External genital hypoplasia ORPHA:177910
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Decreased testicular size, Hypogonadism, Cryptorchidism, Prem... ORPHA:261483
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Ventriculomegaly, Macular hypoplasia, Colpocephaly ORPHA:2185
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Infertility, Failure to thrive, Precocious puberty, External genital hypoplasi... ORPHA:398079
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Childhood-onset truncal... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Childhood-onset truncal... ORPHA:71526
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus, Polyphagia OMIM:616521
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Hypogonadism, Obesity, Cryptor... ORPHA:363741
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Obesity, Peripapillary... OMIM:616188
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Irregular menstruation OMIM:144800
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... ORPHA:791
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615985
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Hyperauto... OMIM:617406
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Obesity OMIM:614947
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss ORPHA:70482
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Truncal obesity, Hypogonadism OMIM:268050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity OMIM:618160
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Bardet-Biedl Syndrome 17
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Micropenis, Macular atrophy, Cone/cone-rod ... OMIM:615994
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Primary amenorrhea, Optic disc pallor... OMIM:619737
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Elevated circulating thyroid-stimulating hormone concentration ORPHA:171706
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Macular degeneration OMIM:204200
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Craniopharyngioma
Hydrocephalus, Enlarged pituitary gland, Abnormal hypothalamus morphology, Papilledema, Hypogonad... ORPHA:54595
Luscan-Lumish Syndrome
Irregular menstruation, Overgrowth, Polyphagia, Ventriculomegaly, Polycystic ovaries, Obesity OMIM:616831
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Secondary amenorrhea, Decrea... ORPHA:3085
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... ORPHA:3008
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Narcolepsy Type 1
Obesity ORPHA:2073
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Agenesis of corpus callosum, Macular degeneration OMIM:612948
Hsd10 Mitochondrial Disease
Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration OMIM:300438
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia OMIM:248100
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Po... OMIM:609734
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Retinal dystrophy OMIM:616756
48,Xxyy Syndrome
Infertility, Hypoplasia of penis, Tall stature, Hypergonadotropic hypogonadism, Ventriculomegaly,... ORPHA:10
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Familial Male-Limited Precocious Puberty
Precocious puberty, Tall stature, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Temple Syndrome
Hydrocephalus, Small for gestational age, Truncal obesity, Decreased testicular size, Cryptorchid... OMIM:616222
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity OMIM:616629
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Obesity, External genital hypoplasia, Rod-cone dystrophy OMIM:600151
Mucolipidosis Iv
Optic atrophy, Dysplastic corpus callosum, Retinal degeneration OMIM:252650
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea, Obesity OMIM:604931
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
Cardiomyopathy, Dilated, 1Ii
Elevated circulating creatine kinase concentration, Cataract OMIM:615184
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Hydrocephalus, Ventriculomegaly, Retinal degeneration OMIM:615630
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Infertility, Failure to thrive, Precocious puberty, External genital hypoplasi... ORPHA:398069
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Polyphagia ORPHA:71529
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Obesity Due To Sim1 Deficiency
Obesity, Polyphagia, Abnormal autonomic nervous system physiology, Postural hypotension with comp... ORPHA:369873
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Tall stature OMIM:618406
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Chromosome Xq21 Deletion Syndrome
Obesity, Chorioretinal atrophy, Choroideremia, Chorioretinal degeneration OMIM:303110
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Orthostatic hypotension due to autonomic... ORPHA:66628
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Rod-cone dystrophy, Reduced circulating prolactin concentration, Hypogon... ORPHA:2235
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Orthostatic hypotension due to autonomic... ORPHA:179494
Autosomal Recessive Spastic Paraplegia Type 11
Retinal degeneration, Orthostatic hypotension, Lateral ventricle dilatation, Dysphagia, Obesity, ... ORPHA:2822
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism ORPHA:2233
X-Linked Acrogigantism
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... ORPHA:300373
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Failure to thrive, Precocious puberty, External genital hypoplasia, Anterior pituita... ORPHA:98754
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity, Ventriculomegaly ORPHA:521390
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia ORPHA:329249
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Failure to thrive, Precocious puberty, External genital hypoplasia, Anterior pituita... ORPHA:98793
Mehmo Syndrome
Hypoplasia of penis, External genital hypoplasia, Micropenis, Obesity, Cryptorchidism ORPHA:85282
Poretti-Boltshauser Syndrome
Retinal thinning, Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy OMIM:615960
47,Xyy Syndrome
Increased circulating gonadotropin level, Hydrocephalus, Congenital stationary night blindness, T... ORPHA:8
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Failure to thrive, Precocious puberty, External genital hypoplasia, Anterior pituita... ORPHA:177904
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Schaaf-Yang Syndrome
Micropenis, Polyphagia, Hypogonadism, Obesity, Cryptorchidism, Failure to thrive in infancy OMIM:615547
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Failure to thrive, Precocious puberty, External genital hypoplasia, Anterior pituita... ORPHA:177901
Borjeson-Forssman-Lehmann Syndrome
Obesity, Cryptorchidism, Micropenis, Hypoplasia of the prostate OMIM:301900
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... OMIM:606407
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia ORPHA:682
Immunodeficiency 61
Obesity OMIM:300310
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Huntington Disease
Decreased body mass index, Polyphagia, Abnormal libido, Weight loss, Choking episodes, Oral-phary... ORPHA:399
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Bardet-Biedl Syndrome 6
External genital hypoplasia, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy, Vaginal atr... OMIM:605231
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Cryptorchidism, Rod-cone dystrophy OMIM:615633
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Cataract 47
Cataract, Microcornea OMIM:612018
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Eunuchoid habitus, Decreased testicular size, Hypogonadism, Obesity, Small s... ORPHA:2234
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Growth Hormone Insensitivity Syndrome
Failure to thrive, Hypoplasia of penis, Truncal obesity, Hypogonadism ORPHA:181393
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Prader-Willi-Like Syndrome
Infertility, Failure to thrive, Precocious puberty, External genital hypoplasia, Anterior pituita... ORPHA:398073
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity ORPHA:3459
Polycystic Ovary Syndrome 1
Amenorrhea, Obesity, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Cornelia De Lange Syndrome 5
Micropenis, Truncal obesity, Ventriculomegaly, Decreased testicular size, Hypogonadism, Cryptorch... OMIM:300882
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Increased body mass index, Truncal obesity, Ventriculomegaly, Cryptorc... OMIM:300957
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Micropenis, Hypospadias, Obesity, Cryptorchidism ORPHA:171839
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Decreased nerve conduction velocity, Premature ovarian insufficiency ORPHA:2928
Prader-Willi Syndrome
Abdominal obesity, Infertility, Failure to thrive, Precocious puberty, External genital hypoplasi... ORPHA:739
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Premature ovarian insufficiency OMIM:618124
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Cach Syndrome
Optic neuritis, Primary amenorrhea, Gonadal dysgenesis, T2 hypointense thalamus, Optic atrophy, L... ORPHA:135
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Micropenis, Hypospadias, Ventriculomegaly, Decreased testicular size, Hypogona... OMIM:300354
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Alg6-Cdg
Failure to thrive, Retinal degeneration, Rod-cone dystrophy ORPHA:79320
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Obesity, Dilated third ventricle, Optic nerve dysplasia OMIM:617296
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis, Optic nerve hypoplasia, Septo-optic dysplasia, Obesity, Cryptorc... ORPHA:3157
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Increased circulating gonadotropin level, Small for gestational age, Decreased... OMIM:300869
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Summitt Syndrome
Obesity OMIM:272350
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia ORPHA:411515
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Spinocerebellar Ataxia 7
Optic atrophy, Dysphagia, Pigmentary retinopathy, Macular degeneration OMIM:164500
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Prader-Willi Syndrome
Abdominal obesity, Infertility, Precocious puberty, External genital hypoplasia, Decreased respon... OMIM:176270
Malan Overgrowth Syndrome
Tall stature, Lateral ventricle dilatation, Optic disc pallor, Ventriculomegaly, Optic disc hypop... ORPHA:420179
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy ORPHA:370022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum, Retinal degeneration OMIM:615249
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Retinal degeneration, Pigmentary retinopathy, Optic disc p... ORPHA:79264
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Polyphagia, Small for gestational age ORPHA:324575
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Failure to thrive, Hydrocephalus, Retinal detachment, Optic atrophy, Ventriculomegaly, Colpocephaly OMIM:619833
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular size, Obesity... OMIM:610628
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital stationary night blindness ORPHA:352530
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic disc hypoplasia OMIM:619955
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cryptorchidism, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Wagr Syndrome
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Dilated fourth ventricle, Optic atrophy, Lateral ventricle dilatation,... ORPHA:3078
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79273
Chung-Jansen Syndrome
Obesity, Cryptorchidism OMIM:617991
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Gangliocytoma
Amenorrhea, Abnormality of the pituitary gland, Pituitary null cell adenoma, Impotence, Abnormal ... ORPHA:251937
Bardet-Biedl Syndrome 1
Abdominal obesity, Retinal degeneration, Bone spicule pigmentation of the retina, Micropenis, Rod... OMIM:209900
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Optic atrophy, Ventriculomegaly, Macular hypoplasia, Colpocephaly OMIM:615219
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Infant Botulism
Keratoconjunctivitis sicca, Hyponatremia, Mydriasis ORPHA:178478
Laurence-Moon Syndrome
Displacement of the urethral meatus, Cryptorchidism, Obesity, Hypoplasia of penis ORPHA:2377
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Disproportionate tall statu... OMIM:615300
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Polyphagia ORPHA:276556
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Pigmentary retinopathy, Hypogonadism, Obesity, Cryp... ORPHA:110
Adiposis Dolorosa
Obesity OMIM:103200
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Micropenis OMIM:300209
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Alg8-Cdg
Cataract, Hyponatremia ORPHA:79325
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Polyphagia ORPHA:276575
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity, Macroorchidism OMIM:300238
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Polyphagia ORPHA:276580
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Weight loss, Polyphagia OMIM:275000
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Male pseudohermaphroditism, Obesity, Chorioretinal coloboma OMIM:600122
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity OMIM:614651
Spinocerebellar Ataxia Type 32