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Gene: Bbs7 MGI:1918742

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Bbs7tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating alanine transaminase level Bbs7tm1b(EUCOMM)Wtsi HET Early adult 1.83×10-09
increased circulating sodium level Bbs7tm1b(EUCOMM)Wtsi HET Early adult 1.65×10-06
abnormal lens morphology Bbs7tm1b(EUCOMM)Wtsi HET Early adult 3.38×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Section

20 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

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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
Rod-cone dystrophy, External genital hypoplasia, Obesity OMIM:615984
Bardet-Biedl Syndrome
Cryptorchidism, Pigmentary retinopathy, Hypoplasia of penis, Hypogonadism, Hypoplasia of the ovar... 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
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Bardet-Biedl Syndrome 22
Microcephaly, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:617119
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
Hypogonadism, Retinopathy, Obesity OMIM:615988
Bardet-Biedl Syndrome 12
Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615989
Bardet-Biedl Syndrome 7
Rod-cone dystrophy, External genital hypoplasia, Obesity OMIM:615984
Oliver-Mcfarlane Syndrome
Cryptorchidism, Pigmentary retinopathy, Retinal degeneration, Small for gestational age, Hypoplas... OMIM:275400
Bardet-Biedl Syndrome 5
External genital hypoplasia, Obesity, Hypogonadism, Micropenis, Rod-cone dystrophy, Macular dystr... OMIM:615983
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Micropenis, Retinal dystrophy OMIM:610156
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Bardet-Biedl Syndrome 16
External genital hypoplasia, Retinal degeneration, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615993
Bardet-Biedl Syndrome 10
Hypogonadism, Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615987
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Bardet-Biedl Syndrome 6
External genital hypoplasia, Retinal dystrophy, Hypospadias, Rod-cone dystrophy, Obesity OMIM:605231
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615990
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ventriculomegaly, Cerebral calcification, Retinal degeneration, Decreased response to growth horm... OMIM:225755
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Microcephaly, Bone spicule pigmentatio... OMIM:618889
Bardet-Biedl Syndrome 4
Cryptorchidism, External genital hypoplasia, Retinal degeneration, Hypogonadism, Rod-cone dystrop... OMIM:615982
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Pulverulent cataract, Nuclear cataract OMIM:600886
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal hyperbilirubinemia... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal hyperbilirubinemia... ORPHA:529799
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Mehmo Syndrome
Male hypogonadism, Hypoplasia of the corpus callosum, Ventriculomegaly, Decreased response to gro... OMIM:300148
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Leptin Receptor Deficiency
Polyphagia, Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyro... OMIM:614963
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615995
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:601794
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Overgrowth, Isos... ORPHA:759
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Developmental And Epileptic Encephalopathy 28
Hypoplasia of the corpus callosum, Cerebral atrophy, Retinal degeneration, Microcephaly, Optic at... OMIM:616211
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spastic Paraplegia 11, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Dysphagia, R... OMIM:604360
Bardet-Biedl Syndrome 9
Polyphagia, Attenuation of retinal blood vessels, Irregular menstruation, Polydipsia, Retinal deg... OMIM:615986
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Leptin Deficiency Or Dysfunction
Polyphagia, Primary amenorrhea, Abnormal eating behavior, Decreased testicular size, Hypogonadism... OMIM:614962
Temple Syndrome
Cryptorchidism, Polyphagia, Hydrocephalus, Decreased response to growth hormone stimuation test, ... ORPHA:254516
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis, Obesity ORPHA:85274
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Retinal degeneration OMIM:204500
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy, External genital hypoplasia OMIM:268010
Spinocerebellar Ataxia, Autosomal Recessive 12
Microcephaly, Optic atrophy, Retinal degeneration OMIM:614322
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Bardet-Biedl Syndrome 19
Hypogonadism, Rod-cone dystrophy, External genital hypoplasia, Obesity OMIM:615996
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Cerebral atrophy, Retinal degeneration, Secondary microcephaly, Optic atrop... OMIM:256730
Combined Oxidative Phosphorylation Deficiency 15
Microcephaly, Abnormal cerebral white matter morphology, Optic atrophy, Obesity OMIM:614947
Bardet-Biedl Syndrome 2
External genital hypoplasia, Retinal degeneration, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615981
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Obesity OMIM:615703
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Microcephaly, Truncal obesity, Pigmentary retinopathy OMIM:268050
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus, Obesity ORPHA:2183
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Hypoplasia of the corpus callosum, Cerebral atrophy, Retinal dystrophy, Microcephaly, Obesity OMIM:616756
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Pituitary hypothyroidism, Decreased response to growth hormone stimuation test, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Pituitary hypothyroidism, Decreased response to growth hormone stimuation test, Obesi... ORPHA:71526
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Hyperostosis Frontalis Interna
Irregular menstruation, Increased circulating prolactin concentration, Obesity OMIM:144800
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydrocephalus, Obesity ORPHA:141333
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum ORPHA:85334
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Trisomy 5P
Ventriculomegaly, Hypoplasia of penis, Obesity ORPHA:1742
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Macular hypoplasia, Small cerebral cortex, Abnormal cortical gyra... ORPHA:2185
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration OMIM:300438
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Chorioretinal hypopigmentation, Clitoral hypoplasia, Decrease... ORPHA:398079
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy OMIM:153700
Isolated Growth Hormone Deficiency, Type V
Microcephaly, Truncal obesity, Decreased response to growth hormone stimuation test, Abdominal ob... OMIM:618160
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia OMIM:304800
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Bardet-Biedl Syndrome 17
External genital hypoplasia, Retinal degeneration, Cone/cone-rod dystrophy, Hypogonadism, Obesity OMIM:615994
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Decreased response to growth hormone stimuation test, Obesity, Adrenocorticotropic ho... OMIM:609734
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, External genital hypoplasia, Obesity ORPHA:177910
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy,... OMIM:616188
Craniopharyngioma
Polyphagia, Abnormal hypothalamus morphology, Enlarged pituitary gland, Papilledema, Pituitary hy... ORPHA:54595
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 21
Retinal atrophy, Overweight, Retinal thinning, Cone/cone-rod dystrophy, Hyperautofluorescent macu... OMIM:617406
Ceroid Lipofuscinosis, Neuronal, 6
Retinal degeneration OMIM:601780
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Rod-cone dystrophy, Optic disc pallor, Obesity OMIM:616394
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Ceroid Lipofuscinosis, Neuronal, 10
Microcephaly, Cerebral atrophy, Retinal atrophy, Rod-cone dystrophy OMIM:610127
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal testis morphology, Abnormal retinal vascular morpho... ORPHA:791
Mucolipidosis Iv
Retinal degeneration, Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Optic at... OMIM:252650
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Abnormal cerebral white matter morpholog... ORPHA:399
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Decreased testicular size, Hypogonadism, Prem... ORPHA:261483
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Overweight, Orthostatic hypotension, Frontal cortical... ORPHA:2822
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Macular degeneration, Agenesis of corpus callosum OMIM:612948
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Corpus callosum atrophy, Abnormal sperm head morphology, Abn... ORPHA:320391
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Retinal coloboma, External genital hypoplasia, Hypogonadism, Rod-cone dystrophy, ... ORPHA:363741
Nephronophthisis 15
Retinal degeneration, Obesity OMIM:614845
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
Poretti-Boltshauser Syndrome
Retinal atrophy, Abnormal periventricular white matter morphology, Retinal thinning, Retinal dyst... OMIM:615960
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Anterior hypopituitarism, Primary amenorrhea, Hypothalamic gonadotropin-r... ORPHA:2235
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Bardet-Biedl Syndrome 8
Hypospadias, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615985
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Carcinoma Of Esophagus
Dysphagia, Weight loss, Obesity ORPHA:70482
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Obesity ORPHA:521390
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Mehmo Syndrome
Cryptorchidism, External genital hypoplasia, Hypoplasia of penis, Microcephaly, Micropenis, Obesity ORPHA:85282
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Congenital stationary night blindne... ORPHA:352530
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity ORPHA:3055
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Macrosomia Adiposa Congenita
Large for gestational age, Polyphagia, Obesity OMIM:248100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Polycystic o... ORPHA:3085
Polymicrogyria With Optic Nerve Hypoplasia
Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, ... ORPHA:250972
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Infertility, Polyphagia, Premature pubarche, Ventriculomegaly, Scrotal hypoplasia... ORPHA:398069
Narcolepsy Type 1
Obesity ORPHA:2073
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
X-Linked Acrogigantism
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:300373
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Luscan-Lumish Syndrome
Polyphagia, Irregular menstruation, Ventriculomegaly, Polycystic ovaries, Overgrowth, Obesity OMIM:616831
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Rod-cone dystrophy, Cerebral atrophy OMIM:204200
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Hypoplasia of the prostate, Microcephaly, Micropenis, Obesity OMIM:301900
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Cubitus Valgus With Mental Retardation And Unusual Facies
Microcephaly, Truncal obesity OMIM:300471
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Scrotal hypoplasia, Anterior pituitary hypoplasia, Clitoral hypoplasia, Small for... ORPHA:98754
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Hypergonadotropic hypogonadism,... ORPHA:66628
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Hypoplasia of the corpus callosum, Decreased testicular size, Ventriculomegaly, A... OMIM:300354
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Simplified gyral pattern, Microcephaly, Optic atrophy, Retinop... OMIM:616171
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypergonadotropic hypogonadism, Facial palsy, Failure to thrive, Decreased response t... OMIM:606407
Growth Hormone Insensitivity Syndrome
Truncal obesity, Failure to thrive, Hypoplasia of penis, Microcephaly, Hypogonadism ORPHA:181393
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea, Obesity OMIM:604931
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Scrotal hypoplasia, Anterior pituitary hypoplasia, Clitoral hypoplasia, Small for... ORPHA:98793
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Tall stature, Male infertility, Precocious puberty ORPHA:3000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Scrotal hypoplasia, Anterior pituitary hypoplasia, Clitoral hypoplasia, Small for... ORPHA:177904
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Hypergonadotropic hypogonadism,... ORPHA:179494
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Scrotal hypoplasia, Anterior pituitary hypoplasia, Clitoral hypoplasia, Small for... ORPHA:177901
Senior-Loken Syndrome 9
Retinal dystrophy, Hypogonadism, Macular degeneration, Rod-cone dystrophy, Obesity OMIM:616629
48,Xxyy Syndrome
Cryptorchidism, Infertility, Azoospermia, Hypergonadotropic hypogonadism, Ventriculomegaly, Tall ... ORPHA:10
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus, Retinal degeneration, Obesity OMIM:615630
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71529
Temple Syndrome
Cryptorchidism, Overweight, Truncal obesity, Small for gestational age, Decreased testicular size... OMIM:616222
Chromosome Xq21 Deletion Syndrome
Chorioretinal degeneration, Chorioretinal atrophy, Choroideremia, Obesity OMIM:303110
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Partial agenesis of the corpus callosum, Dilation of lateral ventricles, Obesity OMIM:617296
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus, Ventriculomegaly, Abnormal cerebral white matter morphology, Trunca... OMIM:300957
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Polyphagia, Abnormal autonomic nervous system... ORPHA:369873
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Tall stature, Obesity OMIM:618406
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Pigmentary ret... ORPHA:79264
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Cessation of head growth, Obesity ORPHA:411515
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Oligosp... ORPHA:52901
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Abnormality of the septum pellucidum, Cerebral atrophy, Hypospadias, Micropenis, ... ORPHA:171839
Combined Oxidative Phosphorylation Deficiency 37
Secondary microcephaly, Optic atrophy, Failure to thrive, Retinal degeneration OMIM:618329
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cataract, Hyperphosphatemia OMIM:146200
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Rafiq Syndrome
Obesity OMIM:614202
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Retinal dystr... ORPHA:464282
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Bardet-Biedl Syndrome 3
External genital hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy, Obesity OMIM:600151
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity ORPHA:329249
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agenesis of corpus callosum, Type II lissencephaly, Retinal degeneration, Agyria, Microcephaly, P... OMIM:615249
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Wagr Syndrome
Cryptorchidism, Ambiguous genitalia, Microcephaly, Displacement of the urethral meatus, Obesity ORPHA:893
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Anterior pituitary hypoplasia, Clitoral hypoplasia, Small for... ORPHA:398073
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Perisylvian polymicrogyria, Ob... OMIM:618443
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Schaaf-Yang Syndrome
Cryptorchidism, Polyphagia, Failure to thrive in infancy, Hypogonadism, Micropenis, Obesity OMIM:615547
Immunodeficiency 61
Obesity OMIM:300310
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Decreased fertility, Abnormal testis morphology, Obesity ORPHA:2233
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Cortisone Reductase Deficiency 2
Premature pubarche, Obesity OMIM:614662
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Small for gestational age, Abdominal ob... OMIM:300869
Prader-Willi Syndrome
Cryptorchidism, Infertility, Polyphagia, Premature pubarche, Ventriculomegaly, Scrotal hypoplasia... ORPHA:739
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Cornelia De Lange Syndrome 5
Cryptorchidism, Ventriculomegaly, Microcephaly, Truncal obesity, Decreased testicular size, Hypog... OMIM:300882
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Cataract 47
Cataract, Microcornea OMIM:612018
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Rod-cone dystrophy, Obesity OMIM:615633
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Hsd10 Disease, Infantile Type
Dysphagia, Cerebral atrophy, Retinal degeneration, Frontotemporal cerebral atrophy, Abnormality o... ORPHA:391428
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Cach Syndrome
T2 hypointense thalamus, Dysphagia, Cerebral atrophy, Primary amenorrhea, Optic neuritis, Seconda... ORPHA:135
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Fryns Macrocephaly
Truncal obesity, Cerebral atrophy OMIM:600302
Prader-Willi Syndrome
Cryptorchidism, Infertility, Polyphagia, Oligomenorrhea, Ventriculomegaly, Scrotal hypoplasia, De... OMIM:176270
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Retinal degeneration, Abnormal corpus callosum morphology, Failure to thrive, M... ORPHA:442835
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Scrotal hypoplasia, Hypogonadism, Hypoplasia of penis, Decreased testicular size, Decreased ferti... ORPHA:2234
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia, Dilation of lateral vent... OMIM:618890
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity ORPHA:3459
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Absent septum pellucidum, Anterior pituitary hypoplasia, Septo-optic dysplasia, O... ORPHA:3157
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Summitt Syndrome
Obesity OMIM:272350
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Hypoplasia of the corpus callosum, Cerebra... OMIM:619260
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macular ... OMIM:608161
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Hypoplasia of the corpus callosum, Oral-pharyngeal dysphagia, Microcephaly, Obesity ORPHA:480907
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum, Obesity ORPHA:166024
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Ventriculomegaly, Abnormal corpus callosum morphology, Cerebral cortical atrophy, Truncal obesity... ORPHA:3224
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Macular hypoplasia, Simplified gyral pattern, Optic atrophy, Comm... OMIM:615219
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Dandy-Walker malformation, Failure to thrive, Microcephaly, Hydrocephalus, Lissen... OMIM:612938
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Drusen, Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity OMIM:608895
Malan Overgrowth Syndrome
Optic disc hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Tall stature, Optic d... ORPHA:420179
Spinocerebellar Ataxia 7
Dysphagia, Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea, Obesity OMIM:184700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Mic... OMIM:610628
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy ORPHA:370022
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Dispro... OMIM:615300
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
16P13.2 Microdeletion Syndrome
Cryptorchidism, Overweight, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ven... ORPHA:500055
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Premature ovarian insufficiency, Decreased nerve conduction velocity ORPHA:2928
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy ORPHA:404451
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Small for gestational age, Polyphagia ORPHA:324575
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum... OMIM:618736
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Retinal atrophy, Corpus callosum atrophy, Oligomenorrhea, Dysphagia, Parietal cortic... ORPHA:412057
Sjögren-Larsson Syndrome
Macular degeneration, Abnormality of retinal pigmentation, Retinopathy, Microcephaly ORPHA:816
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Abnormal lateral ventricle morphology OMIM:615280
Aniridia 2
Cataract, Aniridia OMIM:617141
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Polyphagia, Hypopituitarism, Tall stature, Ove... OMIM:300942
Angelman Syndrome
Polyphagia, Dysphagia, Obesity, Cerebral cortical atrophy, Precocious puberty in females, Cerebra... ORPHA:72
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification ORPHA:73256
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Abnormal testis morphology, Absent septum pellucidum, Ventriculomegaly, Subcortic... ORPHA:96147
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Small for gestational age, Microcephaly, Optic atrophy, Dandy-Walker ma... ORPHA:3078
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Microcephaly, Truncal obesity ORPHA:85280
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Failure to thrive in infancy, Retina... ORPHA:819
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Retinal deg... OMIM:272200
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Polyphagia ORPHA:276556
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Hypospadias, Microce... OMIM:617751
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Aganglionic megacolon, Retinal degeneration, Retinal dystrophy, Vaginal... OMIM:209900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration OMIM:249270
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Dilation of lateral ... OMIM:607485
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca, Hyponatremia ORPHA:178478
Baralle-Macken Syndrome
Microcephaly, Obesity OMIM:619255
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Hartsfield Syndrome
Hypernatremia OMIM:615465
Adiposis Dolorosa
Obesity OMIM:103200
Insulinoma
Pituitary prolactin cell adenoma, Polyphagia, Increased body weight ORPHA:97279
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Polyphagia ORPHA:276575
Trisomy 18P
Microcephaly, Facial palsy, Bilateral cryptorchidism, Polyphagia ORPHA:1715
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Polyphagia ORPHA:276580
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Thick corpus callosum, Microcephaly, Obesity ORPHA:464288
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy OMIM:615147
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Chung-Jansen Syndrome
Cryptorchidism, Obesity OMIM:617991
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Laurence-Moon Syndrome
Cryptorchidism, Displacement of the urethral meatus, Hypoplasia of penis, Obesity ORPHA:2377
Mental Retardation, Autosomal Recessive 13
Hypoplasia of the corpus callosum, Truncal obesity, Secondary microcephaly OMIM:613192
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Failure to thrive in infancy... ORPHA:284417
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Male pseudohermaphroditism, Obesity OMIM:600122
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Retinal atrophy, Type II lissencephaly, Pachygyria, Agenesis of corpus callosum, ... OMIM:236670
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity OMIM:614651
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Rod-c... OMIM:613750
Spastic Paraplegia 15, Autosomal Recessive
Hypoplasia of the corpus callosum, Macular degeneration, Retinal degeneration OMIM:270700
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Absent septum pellucidum, Decreased body weight, Optic nerve hypopla... OMIM:609053
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Ectopia Lentis Et Pupillae