Gene Summary

Name:
Bardet-Biedl syndrome 10 (human)
Synonyms:
1300007O09Rik

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 sodium level Bbs10tm1.1(KOMP)Vlcg HET Early adult 3.61×10-06
preweaning lethality, complete penetrance Bbs10tm1.1(KOMP)Vlcg HOM   Early adult 0.00

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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
Aorta  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus 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)
Uterus 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)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

19 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Sleep Wake

Wake state (bmp file)

15 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

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

7 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Bbs10 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 Bbs10 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Bbs10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Renal agenesis, Abnormality of the kidney, Renal dyspla... OMIM:615993
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Abnormality of the kidney, Retinal dystrophy, Renal cyst, Renal insufficiency... OMIM:615987
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism, Abnormality of the kidney, Retinopathy OMIM:615988
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Bardet-Biedl Syndrome 22
Rod-cone dystrophy, Large for gestational age, Polyphagia, Macular hypopigmentation, Hypogonadism... OMIM:617119
Bardet-Biedl Syndrome 12
Obesity, Abnormality of the kidney, Rod-cone dystrophy, Hypogonadism OMIM:615989
Bardet-Biedl Syndrome 9
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Trunc... OMIM:615986
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Retinal dystrophy, Truncal obesity, Micropenis OMIM:610156
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... OMIM:615990
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Micropenis, Hypogonadism, Obesity OMIM:615983
Bardet-Biedl Syndrome 17
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Micropenis, Polyuria, Cone/cone-rod dystrop... OMIM:615994
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Abnormality of the kidney, Renal cyst, Hypogonadism, Ob... OMIM:615982
Leptin Deficiency Or Dysfunction
Micropenis, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity OMIM:614962
Bardet-Biedl Syndrome 14
Obesity, Rod-cone dystrophy OMIM:615991
Morm Syndrome
Micropenis, Abnormality of the kidney, Retinal dystrophy, Truncal obesity, Retinal atrophy ORPHA:75858
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Failure to thrive, Ketonuria, Retinopathy, Abnormality of the upper ur... ORPHA:99885
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Retinopathy, Moderate albuminuria, Type I diabetes mellitus, Hydronephrosis, ... OMIM:619269
Senior-Loken Syndrome 4
Polydipsia, Rod-cone dystrophy, Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Retinal degeneration,... OMIM:275400
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Abnormal autonomic nervous system physiology, Polyphagia, ... ORPHA:369873
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Bardet-Biedl Syndrome 19
Obesity, Renal insufficiency, Rod-cone dystrophy, Hypogonadism OMIM:615996
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71529
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Nephronophthisis 15
Obesity, Retinal degeneration, Nephronophthisis OMIM:614845
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia, Diabetes mellitus, Hyperglycemia OMIM:222100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Hyperauto... OMIM:617406
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Polyuria, Pigmentary retinopathy, Type I diabetes mellitus, Proximal tubulopathy OMIM:560000
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Spastic Paraplegia 11, Autosomal Recessive
Urinary bladder sphincter dysfunction, Cerebral cortical atrophy, Retinal degeneration, Macular d... OMIM:604360
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia, Tall stature OMIM:618406
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Oculorenocerebellar Syndrome
Nephropathy, Retinal degeneration, Glomerular sclerosis OMIM:257970
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Polyphagia, Cystinuria ORPHA:163690
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia, Adrenocortical adenoma OMIM:248100
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Orthostati... ORPHA:66628
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Abnormal retinal morphology on macular OCT, Brain atrophy, Macroscopic hematur... ORPHA:251004
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Abnormal retinal vascular morph... ORPHA:791
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:179494
Senior-Loken Syndrome 9
Rod-cone dystrophy, Nephronophthisis, Macular degeneration, Retinal dystrophy, Tubulointerstitial... OMIM:616629
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Cystinuria, Decreased response to growth hormone stimulation ... OMIM:606407
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... OMIM:204500
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy, Renal cyst, Diabetes mellitus, Obesity OMIM:605231
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... OMIM:614963
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Hypospadias, Renal dysplasia, Hypogonadism, Obesity OMIM:615985
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Obesity, Peripapillary... OMIM:616188
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Hypogonadism, Diabetes mellitus, Moderate albuminuria OMIM:614231
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Polyuria, Hypercalciuria, Medullary nephrocalcinosis,... OMIM:616963
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Temple Syndrome
Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormone stimulation t... ORPHA:254516
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Polyphagia, Insulin resistance, Obesity OMIM:617885
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Cerebellar atrophy OMIM:614322
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
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Nephronophthisis 11
Polydipsia, Retinal degeneration, Nephronophthisis, Renal tubular atrophy, Polyuria, Tubular base... OMIM:613550
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty ORPHA:140941
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism, Hypoplasia of penis, Micropenis ORPHA:85274
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... ORPHA:54370
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Cerebral atrophy, Increased extra... OMIM:204200
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Retinopathy, Abnormal chorioretinal morphology, Renal insufficiency, P... ORPHA:225
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Diabete... OMIM:613845
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Cerebral atrophy, Retinal degeneration OMIM:616211
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Increased neuronal a... OMIM:256730
Bardet-Biedl Syndrome 3
Obesity, Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, S... OMIM:619468
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Weight loss, Nephrocalcinosis OMIM:143880
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Rod-cone dystrophy, Renal agenesis, Abnormality of the kidney, Retinal dy... ORPHA:261222
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration, Hyperglycemia OMIM:520000
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Obesity OMIM:614947
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Chronic kidney disease, Retinal degeneration, Nephronophthisis, Impaired glu... OMIM:615630
Cystinosis, Nephropathic
Polydipsia, Retinal pigment epithelial mottling, Glycosuria, Hematuria, Proteinuria, Weight loss,... OMIM:219800
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Galactosemia I
Increased level of galactitol in urine, Failure to thrive, Aminoaciduria, Hypergonadotropic hypog... OMIM:230400
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Retinal dystrophy, ... OMIM:266900
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
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
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Small pituit... ORPHA:398079
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Abnormal retinal vascular morphology, Increased urinary pot... OMIM:607364
Bardet-Biedl Syndrome 7
Obesity, Rod-cone dystrophy, Hypogonadism OMIM:615984
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Hypergonadotrop... ORPHA:3085
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Cerebral atrophy OMIM:616521
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Diabetes mellitus OMIM:249270
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Retinal degeneration OMIM:225755
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Cerebral atrophy, Retinal dystrophy OMIM:616756
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chromosome Xq21 Deletion Syndrome
Obesity, Chorioretinal atrophy, Choroideremia, Chorioretinal degeneration OMIM:303110
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Goite... OMIM:275000
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Truncal obesity, Hypogonadism OMIM:268050
Schaaf-Yang Syndrome
Micropenis, Polyphagia, Hypogonadism, Obesity, Failure to thrive in infancy OMIM:615547
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Cerebellar atrophy, Hypergastrinemia OMIM:252650
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Nephrocalcinosis, Rod-cone dystrophy OMIM:615633
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Failure to thrive, Renal tubular ... OMIM:248250
Alg6-Cdg
Failure to thrive, Retinal degeneration, Rod-cone dystrophy, Puberty and gonadal disorders, Incre... ORPHA:79320
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss ORPHA:70482
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Cerebral cortical atrophy, Aminoaciduria, Hypospadias, Pigmentary retinopathy,... OMIM:214100
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Obesity, Rod-cone dystrophy, Hypogonadism ORPHA:363741
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Ceroid Lipofuscinosis, Neuronal, 5
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Cerebellar atrophy OMIM:256731
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Obesity, Rod-cone dystrophy, Hypogonadism OMIM:601794
Cystinosis
Renal tubular dysfunction, Failure to thrive, Polydipsia, Nephrogenic diabetes insipidus, Aminoac... ORPHA:213
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity OMIM:618160
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Polyphagia OMIM:600274
Cednik Syndrome
Nephrotic syndrome, Optic atrophy, Proteinuria, Hypogonadism, Abnormality of peripheral nerve con... ORPHA:66631
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Retinal dystrophy, Obesity, Puberty and gonadal disorders, Urinary incontinence ORPHA:464282
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Wolfram-Like Syndrome
Glucose intolerance, Abnormality of the upper urinary tract, Optic atrophy, Hypothyroidism, Male ... ORPHA:411590
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Micropenis, Hyp... OMIM:300148
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia ORPHA:411515
Huntington Disease
Cerebral atrophy, Caudate atrophy, Decreased body mass index, Polyphagia, Degeneration of the str... ORPHA:399
Mehmo Syndrome
Diabetes mellitus, Obesity, Hypoplasia of penis, Micropenis ORPHA:85282
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Membranoproliferative glomerulonephritis, Moderate albuminuria, Type I diabete... OMIM:619525
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Rod-cone dystrophy, Retinal degeneration, C... ORPHA:391428
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Polydipsia, Aminoaciduria, Elevated circulating parathyroid hormone level, Pri... OMIM:239200
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal... OMIM:602522
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Small pituit... ORPHA:398069
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Hypoplasia of penis ORPHA:3055
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Diabetes mellitus OMIM:144800
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Papilledema, ... ORPHA:54595
Narcolepsy Type 1
Obesity ORPHA:2073
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy OMIM:615147
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Enuresis, Failure to thrive in infancy OMIM:613670
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Polyuria, Hydronephrosis, Polydipsia OMIM:304900
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral... ORPHA:2377
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circulating renin level, Hyperaldost... OMIM:612780
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Al Amyloidosis
Nephrotic syndrome, Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology,... ORPHA:85443
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98754
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hsd10 Mitochondrial Disease
Hypoglycemia, Optic atrophy, Cerebral cortical atrophy, Retinal degeneration OMIM:300438
Nephronophthisis 1
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... OMIM:256100
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98793
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of the ovary, Hypoplasia of penis, Multicystic kidney dysplasia, P... ORPHA:110
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, H... OMIM:613090
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Diabetes me... OMIM:608709
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177904
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Increased bod... ORPHA:2298
Preeclampsia
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Increased body mass... ORPHA:275555
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177901
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Dysphagia, Proteinuria, Rena... OMIM:254900
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Gitelman Syndrome
Failure to thrive, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Salt craving, Increased circula... OMIM:263800
Spastic Paraplegia 15, Autosomal Recessive
Urinary bladder sphincter dysfunction, Retinal degeneration, Macular degeneration, Urinary urgenc... OMIM:270700
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital stationary night blindness, Congenital hypothyroidism, Cerebral cortical atrophy ORPHA:352530
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... ORPHA:3008
Spinocerebellar Ataxia 7
Optic atrophy, Dysphagia, Pigmentary retinopathy, Macular degeneration OMIM:164500
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Prader-Willi-Like Syndrome
Central adrenal insufficiency, Decreased inhibin B level, Occipital cortical atrophy, Abnormality... ORPHA:398073
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Trisomy 5P
Obesity, Renal hypoplasia/aplasia, Hypoplasia of penis ORPHA:1742
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:375
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Retinal degeneration, Bone spicule pigmentatio... OMIM:209900
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Delayed puberty, Hypogonadism, Obesity ORPHA:141333
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus OMIM:615703
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephronophthisis 4
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:606966
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atrophy OMIM:616171
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephronophthisis 3
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:604387
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Abnormality of the thyroid gland, Eunuchoid habitus, Hypoplasia of pen... ORPHA:2234
Pick Disease Of Brain
Polyphagia, Neuronal loss in central nervous system OMIM:172700
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hyp... OMIM:613677
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Optic disc pallor, Retrobulbar optic neuritis, Obesity, Hyperglyc... OMIM:619737
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty, Micropenis OMIM:301900
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Failure to thrive, Retinal degeneration, Macular scar, Retinopathy, Hypercalci... OMIM:239000
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity OMIM:614651
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy, Abnormal renal physiology OMIM:266500
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Obesity, Polyphagia, Nephroblastoma, Proteinuria OMIM:612469
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism, Low urinary cy... OMIM:603233
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Rod-cone dystrophy, Reduced circulating prolactin concentration, Hypogon... ORPHA:2235
Ceroid Lipofuscinosis, Neuronal, 10
Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Retinal atrophy, I... OMIM:610127
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Angelman Syndrome
Precocious puberty in females, Cerebral cortical atrophy, Delayed menarche, Optic atrophy, Optic ... ORPHA:72
Immunodeficiency 61
Obesity OMIM:300310
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Macul... OMIM:120330
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Diabetes mellitus, Ob... OMIM:610628
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Small for gestational age, Unilateral renal agenesis, Abnorma... ORPHA:93101
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... OMIM:606995
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Galloway-Mowat Syndrome 6
Decreased body weight, Nephrotic syndrome, Cerebellar vermis atrophy, Decreased response to growt... OMIM:618347
Baralle-Macken Syndrome
Obesity, Global brain atrophy, Urinary incontinence OMIM:619255
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Graves disease, Increased circulating free T3, Increased circulati... ORPHA:525731
Oligomeganephronia
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Small for gestational ag... ORPHA:2260
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... ORPHA:94086
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Failure to thrive, Small for gestational age, Orthostatic hypotension, Polyu... OMIM:606721
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Abnormal penis morphology, Hematuria, Moderate albuminuria, Acute kidney injury, Renal t... ORPHA:95455
Central Precocious Puberty
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... ORPHA:759
Alport Syndrome
Macular degeneration, Glomerular C3 deposition, Hematuria, Retinal flecks, Thickened glomerular b... ORPHA:63
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Hypogonadism ORPHA:261483
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Primary hypothyroidism, Weight loss, Aganglionic megacolon, Centra... ORPHA:95427
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration, Stage 5 chronic kidney disease OMIM:613819
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... OMIM:615954
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis, Optic nerve hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:3157
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Failure to thrive, Increased urinar... OMIM:601678
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Tall stature, Overgrowth, I... OMIM:300942
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cerebral cortical atrophy, Retinal degeneration, Rod-cone dy... ORPHA:166035
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Pigmentary retinopathy, ... ORPHA:436271
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Failure to thrive, Polydipsia, Incr... OMIM:241200
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... ORPHA:79264
Oguchi Disease
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy ORPHA:75382
Prader-Willi Syndrome
Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious... OMIM:176270
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
2Q23.1 Microdeletion Syndrome
Polyphagia, Hypoplasia of penis ORPHA:228402
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Acute kid... ORPHA:567544
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Brain atrophy, Cerebral atrophy, Attenuation of retinal blood vessels, Geog... OMIM:619260
Alstrom Syndrome
Hyperinsulinemia, Nephritis, Decreased response to growth hormone stimulation test, Hypergonadotr... OMIM:203800
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Aceruloplasminemia
Retinal degeneration, Diabetes mellitus OMIM:604290
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Overgrowth, Renal insufficiency, Enuresis, Nephro... OMIM:204690
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... ORPHA:739
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Membranoproliferative glomerulonephritis, Type I diabetes mellitus, Proteinuria OMIM:619858
Summitt Syndrome
Obesity OMIM:272350
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Frontal cortical atrophy, Retinal degeneration, Abnormality of pattern... ORPHA:2822
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Polyphagia, Patent ductus arteriosus, Abnormal optic disc... ORPHA:96121
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Idiopathic Intracranial Hypertension
Papilledema, Obesity ORPHA:238624
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy OMIM:212550
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... ORPHA:449395
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Brain atrophy, Cerebral atrophy, Retinal degeneration, Optic atrophy ORPHA:442835
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Cerebral cortical atrophy, Nephropathy, Type I diabetes mellitus, Proteinuria ORPHA:1192
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia, Patent ductus arteri... ORPHA:171839
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Joubert Syndrome 6
Chorioretinal coloboma, Retinal degeneration, Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Dysphagia, Cerebellar atrophy, Neurogenic bladder, Macular degeneration OMIM:619780
Temple Syndrome
Maturity-onset diabetes of the young, Overweight, Truncal obesity, Small for gestational age OMIM:616222
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Retinal pigment epithelial atrophy, Macular crystals, Mac... OMIM:270200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Pigmentary retinopathy, ... OMIM:220110
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Rod-cone dystrophy, Hypergonadotropic hypogonadism, ... OMIM:607426
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Luscan-Lumish Syndrome
Obesity, Polyphagia, Overgrowth OMIM:616831
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Liddle Syndrome 3
Hypokalemia OMIM:618126
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Helix Syndrome
Nephrolithiasis, Polydipsia, Polyuria, Hypocalciuria, Renal insufficiency, Hyperparathyroidism OMIM:617671
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... ORPHA:567548
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Multicystic kidney dysplasia, Micropenis OMIM:300209
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cranial nerve compression, Hypertensive retinopathy, Elevated urinary dopamine, Paraganglioma of ... ORPHA:276621
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Retinal degeneration, Decreased response to growth hormone stimulation test, Hypospadias... ORPHA:96179
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Myoglobinuria, Pigmen... ORPHA:71212
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Abnormality of the kidney, Hypoglycemia, Proteinuria, Delayed puberty ORPHA:369
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia ORPHA:682
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hyperinsulinemia, Tall stature, Decreased serum leptin, Insulin-resistant diabet... OMIM:608594
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Obesity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Sjögren-Larsson Syndrome
Retinopathy, Abnormality of retinal pigmentation, Macular degeneration ORPHA:816
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Proteinuria, Diabetes mellitu... OMIM:616026
Scheie Syndrome
Retinal degeneration OMIM:607016
Trisomy 18P
Polyphagia, Facial palsy ORPHA:1715
Hereditary Pheochromocytoma-Paraganglioma
Cranial nerve compression, Hypertensive retinopathy, Elevated urinary dopamine, Paraganglioma of ... ORPHA:29072
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers