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Gene: Ttc8 MGI:1923510

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
tetratricopeptide repeat domain 8
Synonyms:
0610012F22Rik,  BBS8

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ttc8 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 predicted to be associated to Ttc8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... OMIM:615990
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Bardet-Biedl Syndrome 18
Renal insufficiency, Retinal dystrophy, Obesity, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
Bardet-Biedl Syndrome 10
Renal insufficiency, Retinal dystrophy, Obesity, Renal cyst, Rod-cone dystrophy OMIM:615987
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Bardet-Biedl Syndrome 14
Renal insufficiency, Rod-cone dystrophy, Obesity OMIM:615991
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Bardet-Biedl Syndrome 11
Retinopathy, Obesity OMIM:615988
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe... OMIM:618889
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Bardet-Biedl Syndrome 5
Macular dystrophy, Micropenis, Rod-cone dystrophy, Obesity OMIM:615983
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Bardet-Biedl Syndrome 16
Renal insufficiency, Short stature, Obesity, Renal cyst, Stage 5 chronic kidney disease, Rod-cone... OMIM:615993
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Bardet-Biedl Syndrome 4
Cryptorchidism, Obesity, Renal cyst, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Nephronophthisis 15
Obesity, Retinal degeneration, Nephronophthisis OMIM:614845
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Severe short stature, Small for gestational age, Cryptorchidism, Pigmentary ... OMIM:275400
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polyuria, Anos... OMIM:615994
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, Renal insufficiency, Obesity, Renal hypoplasia, Hyposmia, Rod-cone dystr... OMIM:615996
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Morm Syndrome
Truncal obesity, Micropenis, Retinal atrophy, Retinal dystrophy ORPHA:75858
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Anosmia, Obesity, Hyposmia, Micropenis, Decreased testicular size OMIM:610628
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Autism, Susceptibility To, X-Linked 6
Obesity, Underdeveloped nasal alae OMIM:300872
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Micropenis ORPHA:85274
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Retinal dystrophy, Childhood-onset truncal obesity OMIM:610156
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Hernández-Aguirre Negrete Syndrome
Bulbous nose, Obesity, Delayed puberty ORPHA:2139
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, S... OMIM:616108
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Cryptorchidism, Growth delay, Pigmentary retinopathy, Micropenis, Reti... ORPHA:3363
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia, Delayed puberty OMIM:615271
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Spinocerebellar Ataxia, Autosomal Recessive 12
Growth delay, Optic atrophy, Retinal degeneration OMIM:614322
Xq27.3Q28 Duplication Syndrome
Short stature, Cryptorchidism, Bulbous nose, Truncal obesity, Intrauterine growth retardation, Fa... ORPHA:261483
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Short stature, Delayed puberty OMIM:274190
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Bardet-Biedl Syndrome 7
Rod-cone dystrophy, Depressed nasal bridge, Obesity OMIM:615984
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Intellectual Developmental Disorder, X-Linked 91
Short nose, Obesity OMIM:300577
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Obesity, Retinal degeneration OMIM:615981
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Micropenis, Decreased testicular size, Abnormality of the sense of smell OMIM:146110
Bardet-Biedl Syndrome 22
Rod-cone dystrophy, Macular hypopigmentation, Obesity, Large for gestational age OMIM:617119
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Obesity OMIM:617885
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Short stature, Rhizomelia, Optic atrophy, Disproportionate short-trunk s... OMIM:602271
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Narcolepsy Type 1
Obesity ORPHA:2073
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy, Retinal degeneration OMIM:257970
Laurence-Moon Syndrome
Short stature, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Micropenis OMIM:245800
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Obesity, Enuresis, Short nose OMIM:613670
Chromosome Xq21 Deletion Syndrome
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration OMIM:303110
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Short stature, Obesity OMIM:619058
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory anomaly, Postnatal growth... ORPHA:91412
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Anteverted nares, Abnormal retinal vasc... ORPHA:791
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
11P15.4 Microduplication Syndrome
Anteverted nares, Obesity ORPHA:300305
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... OMIM:613464
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Renal insufficiency, Obesity, Truncal obesity, Rod-cone ... OMIM:615986
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Short stature, Obesity ORPHA:171706
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Obesity OMIM:300209
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Chondrodysplasia Punctata 1, X-Linked Recessive
Short stature, Depressed nasal bridge, Anosmia, Short nose, Short nasal septum OMIM:302950
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Growth delay, Truncal obesity, Delayed puberty ORPHA:140941
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Obesity, Renal hypoplasia OMIM:600151
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Bifid nose, Hyposmia, Micropenis, Decreased testicular size OMIM:614838
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Azoospermia, Decreased motor nerve conduction velocity OMIM:613724
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Hypospadias, Obesity OMIM:615985
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Anosmia, Delayed puberty, Hyposmia, Micropenis OMIM:612702
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Short stature, Obesity ORPHA:276630
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Mehmo Syndrome
Small for gestational age, Broad nasal tip, Obesity, Depressed nasal tip, Birth length less than ... OMIM:300148
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Obesity, Urinary urgency, Macular degeneration, Urinary bladder sphincter d... OMIM:604360
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Retinal dystrophy, Obesity, Short stature OMIM:616756
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Senior-Loken Syndrome 9
Retinal dystrophy, Obesity, Stage 5 chronic kidney disease, Macular degeneration, Tubulointerstit... OMIM:616629
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Rod-cone dystrophy, Retinal coloboma, Obesity OMIM:601794
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell ORPHA:1135
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Obesity OMIM:620270
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Anosmia, Total anosmia OMIM:614879
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Rod-cone dystrophy, Retinal coloboma, Obesity ORPHA:363741
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Summitt Syndrome
Obesity OMIM:272350
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia, Delayed puberty OMIM:615270
Hyperostosis Cranialis Interna
Hyposmia, Anosmia, Optic atrophy, Facial palsy OMIM:144755
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Retinal dystrophy, Prominent nasal bridge, Proteinuria, Chronic kidney dis... ORPHA:261222
Leptin Deficiency Or Dysfunction
Decreased testicular size, Micropenis, Recurrent upper respiratory tract infections, Obesity OMIM:614962
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Short stature, Choanal atresia, Cryptorchidism, Anosmia, Delayed puberty, Hyposmia, Micropenis OMIM:147950
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Papilledema, Obesity ORPHA:238624
Bardet-Biedl Syndrome 6
Hypospadias, Obesity, Renal cyst, Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Short stature, Abnormal cranial nerve morphology ORPHA:2057
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Rod-cone dystrophy, Obesity OMIM:615633
Refsum Disease, Classic
Abnormal renal physiology, Rod-cone dystrophy, Anosmia, Retinal degeneration OMIM:266500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Short stature, Macular atrophy, Prominent nose, Optic atrophy, Intrauterine gr... OMIM:616171
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cryptorchidism, Anosmia, Hyposmia, Micropenis OMIM:244200
Atkin-Flaitz Syndrome
Anteverted nares, Short stature, Broad nasal tip, Obesity, Macroorchidism ORPHA:1193
Temple Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Short stature, Ov... OMIM:616222
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Depressed nasal bridge, Macular coloboma, Macular atrophy, Short stature, Geog... OMIM:619260
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Anosmia, Decreased testicular size OMIM:614858
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge, Short stature, Frontalis muscle weakness OMIM:210745
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Unilateral renal agenesis, Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Mic... OMIM:308700
Trisomy 5P
Hypoplasia of penis, Short stature, Obesity ORPHA:1742
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Scheie Syndrome
Wide nose, Depressed nasal bridge, Retinal degeneration OMIM:607016
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Bulbous nose, Obesity OMIM:300238
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Summitt Syndrome
Wide nose, Depressed nasal ridge, Obesity, Tall stature ORPHA:3210
Rafiq Syndrome
Wide nose, Short stature, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity, Truncal obesi... OMIM:614202
Musk, Inability To Smell
Anosmia OMIM:254150
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Optic atrophy, Obesity OMIM:614651
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Unilateral renal agenesis, Cryptorchidism, Anosmia, Micropenis, Testicular atr... OMIM:308750
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital stationary night blindness, Wide nasal bridge, Obesity ORPHA:352530
Biemond Syndrome Type 2
Short stature, Obesity, Hypospadias, Delayed puberty ORPHA:141333
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Adiposis Dolorosa
Obesity OMIM:103200
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Hypoplasia of penis, Short stature, Optic nerve hypoplasia, Cryptorchidism... ORPHA:3157
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Rod-cone dystrophy, Retinal atrophy, Wide nasal bridge OMIM:610127
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Anosmia, Abnormal nerve conduction velocity, Abnormal autonomic nervous sys... OMIM:243000
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Aural Atresia, Congenital
Hyposmia OMIM:607842
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Small for gestational age, Depressed nasal bridge, Anteverted nares, Short stature, Po... ORPHA:96184
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Wide nasal bridge, Obesity OMIM:616521
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Postnatal growth retardation, Bulbous ... ORPHA:480907
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose, Obesity OMIM:611936
Borjeson-Forssman-Lehmann Syndrome
Short stature, Cryptorchidism, Obesity, Delayed puberty, Micropenis OMIM:301900
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Small for gestational age, Cryptorchidism, Bulbous nose, Abdominal obesity, Intrau... OMIM:300869
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Anosmia OMIM:612370
Mehmo Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Growth delay, Micropenis ORPHA:85282
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Obesity, Short nose, Low hanging columella OMIM:617752
Beta-Mercaptolactate Cysteine Disulfiduria
Anteverted nares, Short stature, Abnormality of the ureter, Obesity, Convex nasal ridge ORPHA:1035
Johnson Neuroectodermal Syndrome
Severe short stature, Choanal atresia, Facial palsy, Bulbous nose, Anosmia, Failure to thrive ORPHA:2316
Developmental And Epileptic Encephalopathy 28
Anteverted nares, Optic atrophy, Retinal degeneration OMIM:616211
Huntington Disease
Weight loss, Decreased body mass index, Abnormality of the sense of smell ORPHA:399
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Micropenis, Anosmia, Decreased testicular size OMIM:614880
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Macular de... OMIM:270200
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Short stature, Cryptorchidism, Optic atrophy, Aminoaciduria, Retinal deg... OMIM:249270
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
11Q22.2Q22.3 Microdeletion Syndrome
Depressed nasal bridge, Obesity ORPHA:444002
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Micropenis, Decreased testicular size OMIM:614897
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Growth delay, Delayed puberty, Failure to thrive, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Growth delay, Delayed puberty, Failure to thrive, Childhood-onset truncal obesity ORPHA:71526
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Intrauterine growth retardation, Wide nose, Obesity ORPHA:254531
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Obesity, Renal hypoplasia,... ORPHA:171839
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Oligozoospermia OMIM:615703
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Prominent nasal bridge, Cryptor... ORPHA:110
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Short stature, Cryptorchidism, Obesity, Decreased testicular... ORPHA:3085
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
6Q16 Microdeletion Syndrome
Bulbous nose, Depressed nasal bridge, Anteverted nares, Obesity ORPHA:171829
Hsd10 Mitochondrial Disease
Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration OMIM:300438
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Anosmia, Optic atrophy OMIM:601152
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Chronic kidney disease, Obesity, Nephronophthisis, Retinal degeneration OMIM:615630
Wilson-Turner Syndrome
Cryptorchidism, Truncal obesity, Short stature, Broad nasal tip ORPHA:3459
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Obesity, Mild short statur... OMIM:614613
Alg6-Cdg
Failure to thrive, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Short nose ORPHA:2429
14Q11.2 Microduplication Syndrome
Depressed nasal bridge, Wide nasal bridge, Obesity ORPHA:261229
Megalencephaly
Macroorchidism, Truncal obesity, Long penis, Wide nasal bridge ORPHA:2477
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Chung-Jansen Syndrome
Cryptorchidism, Short nose, Anteverted nares, Obesity OMIM:617991
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Short stature, Cryptorchidism, Obesity, Displacement of... ORPHA:2377
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... OMIM:617547
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Bulbous nose, Obesity ORPHA:85286
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Short stature,... OMIM:300882
Joubert Syndrome 37
Wide nose, Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Obesity, Hydroneph... OMIM:619185
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Abnormality of the sense of smell ORPHA:3201
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Obesity OMIM:619854
Laron Syndrome
Aplasia/Hypoplasia involving the nose, Hypoplastic nasal bridge, Severe short stature, Hypoplasia... ORPHA:633
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Anosmia, Delayed puberty, Micropenis, Decreased testicular size OMIM:614841
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Immunodeficiency 61
Obesity, Recurrent sinusitis OMIM:300310
X-Linked Intellectual Disability, Stevenson Type
Thick nasal alae, Broad columella, Tall stature, Obesity ORPHA:85325
Clark-Baraitser syndrome
Anteverted nares, Broad nasal tip, Obesity, Macroorchidism, Tall stature OMIM:300602
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Rhizomelic Limb Shortening With Dysmorphic Features
Stage 1 chronic kidney disease, Rhizomelia, Wide nasal bridge, Obesity OMIM:618821
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Anosmia OMIM:618841
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... ORPHA:369873
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Short stature, Anosmia, Pyri... OMIM:147250
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Decreased testicular size, Abnormality of the sense ... OMIM:616113
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity ORPHA:2180
Refsum Disease
Abnormality of retinal pigmentation, Anosmia, Renal insufficiency, Retinopathy ORPHA:773
15Q24 Microdeletion Syndrome
Depressed nasal bridge, Prominent nasal bridge, Small for gestational age, Short stature, Postnat... ORPHA:94065
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Retinal dystrophy, Absent pubertal growth spurt, Urinary incontinence, Short stature, Obesity ORPHA:464282
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Obesity, Short stature OMIM:612463
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Short stature, Obesity ORPHA:2233
Gorlin Syndrome
Cryptorchidism, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell, Azoospermia, Abnormality of the Leydig cells, Delayed puberty,... OMIM:228300
Wagr Syndrome
Cryptorchidism, Short stature, Obesity, Displacement of the urethral meatus ORPHA:893
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Chromosome 16P13.3 Deletion Syndrome, Proximal
Prominent nose, Obesity, Failure to thrive, Convex nasal ridge, Low hanging columella OMIM:610543
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Short stature ORPHA:816
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Obesity ORPHA:329249
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Hypoplasia of penis, Anosmia ORPHA:1295
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Short stature, Obesity ORPHA:2183
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Temple Syndrome
Small for gestational age, Short stature, Postnatal growth retardation, Cryptorchidism, Obesity ORPHA:254516
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Depressed nasal bridge, Prominent nose, Bulbous nose, Obesity, Organic aciduria, Prominent nasal ... OMIM:620191
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity OMIM:264120
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Micropenis, Anosmia, Decreased testicular size OMIM:616030
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Obesity ORPHA:254525
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Anosmia, Azoospermia, Micropenis, Decreased testicular size OMIM:614837
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Short stature, Obesity, Decreased testicular size ORPHA:2234
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short stature, Underdeveloped nasal alae, Cryptorchidism, Renal cyst, Horseshoe kidney, Intrauter... ORPHA:166035
Rabin-Pappas Syndrome
Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Broad nasal tip, Retina... OMIM:620155
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Short stature, Obesity, Delayed puberty OMIM:614963
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short stature, Prominent nasal bridge, Cryptorchidism, Abnormality of the ur... ORPHA:3409
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Combined Oxidative Phosphorylation Deficiency 54
Retrobulbar optic neuritis, Intrauterine growth retardation, Optic disc pallor, Obesity OMIM:619737
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short stature, Underdeveloped nasal alae, Patchy atrophy of the retinal pigment epithelium, Rod-c... ORPHA:436245
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Failure to thrive, Optic atrophy, Retinal degeneration ORPHA:442835
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Obesity OMIM:616562
13Q12.3 Microdeletion Syndrome
Short stature, Underdeveloped nasal alae, Cryptorchidism, Obesity, Low insertion of columella, In... ORPHA:412035
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Chromosome 2Q37 Deletion Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal tip, Obesity OMIM:600430
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Anosmia, Oligozoospermia, Azoospermia, Delayed puberty, Abnormal... ORPHA:52901
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Short stature ORPHA:2928
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity, Short stature ORPHA:85280
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Anteverted nares, Cryptorchidism, Depressed nasal ridge, Obesity, Renal hypoplasia, Vesicouretera... ORPHA:464288
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Wide nose, Anteverted nares, Obesity, Short stature OMIM:619056
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short stature, Underdeveloped nasal alae, Renal cyst, Horseshoe kidney, Hypoautofluorescent retin... OMIM:250410
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Kallmann Syndrome
Hypoplasia of penis, Cryptorchidism, Anosmia, Obesity, Delayed puberty, Hyposmia, Micropenis, Dec... ORPHA:478
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Baralle-Macken Syndrome
Urinary incontinence, Obesity OMIM:619255
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Microtriplication 11Q24.1
Wide nose, Short stature, Obesity ORPHA:289522
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Short stature, Macular scar, Hypercalciuria, Angioid str... OMIM:239000
8P11.2 Deletion Syndrome
Hypoplasia of penis, Depressed nasal bridge, Retinal dystrophy, Short stature, Cryptorchidism, An... ORPHA:251066
Smith-Magenis Syndrome
Retinal detachment, Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Short... ORPHA:819
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Short stature, Postnatal growth retardation, Truncal obesity, Severe p... ORPHA:73272
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Wide nasal bridge OMIM:613192
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Short stature, Depressed nasal bridge, Hypospadias, Cryptorchidism, Bulbous nose, Abdominal obesi... OMIM:300354
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Penile freckling, Large for gestational age, Obesity, Hydrocele testis, O... OMIM:605309
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Urinary urgency, Macular degeneration, Urinary bladder sphincter dysfunctio... OMIM:270700
Prader-Willi Syndrome Due To Imprinting Mutation
Short stature, Obesity ORPHA:177910
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Prom... OMIM:216550
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation, Short stature ORPHA:1573
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Short stature, Obesity OMIM:618124
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Congenital Myopathy 9A
Cryptorchidism, Short stature, Obesity OMIM:618822
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Short stature, Proteinuria, Morning glory anoma... OMIM:120330
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Bulbous nose, Obesity, Short nose, Tall stature OMIM:618430
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Truncal obes... OMIM:300957
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Kleine-Levin Syndrome
Parosmia ORPHA:33543
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Truncal obesity, Disproportionate short stature, Short stature, Obesity OMIM:618363
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Subaortic Stenosis-Short Stature Syndrome
Anteverted nares, Obesity, Short stature ORPHA:3191
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Momo Syndrome
Overgrowth, Retinal coloboma, Wide nasal bridge, Obesity OMIM:157980
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Short stature, Proteinuria, Macroscopic hematuria, Obes... ORPHA:251004
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Mild postnatal growth retardation, Short stat... ORPHA:168549
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Hydrolethalus
Cryptorchidism, Abnormality of the sense of smell ORPHA:2189
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Momo Syndrome
Short stature, Large for gestational age, Obesity, Overgrowth, Chorioretinal coloboma, Wide nasal... ORPHA:2563
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Xp22.13P22.2 Duplication Syndrome
Short stature, Broad nasal tip, Recurrent upper respiratory tract infections, Flared nostrils, Tr... ORPHA:284180
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Kallmann Syndrome-Heart Disease Syndrome
Short stature, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Growth delay, Delayed pu... ORPHA:2326
8Q21.11 Microdeletion Syndrome
Wide nose, Hypoplasia of penis, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sen... ORPHA:284160
Ring Chromosome Y Syndrome
Unilateral cryptorchidism, Short stature, Hypospadias, Cryptorchidism, Obesity, Perineal hypospad... ORPHA:261529
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy, Obesity OMIM:612291
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Rod-cone dystrophy, Optic atrophy, Retinal ... ORPHA:391428
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypospadias, Prominent nose, Postnatal growth retardation, Cryptorchidism... ORPHA:439822
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Anteverted nares, Choanal atresia, Fa... ORPHA:2162
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Cystic renal dysplasia, Rod-cone dystrophy, Hydronephrosis OMIM:615989
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Nephronophthisis 11
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:613550
Schaaf-Yang Syndrome
Failure to thrive in infancy, Short stature, Cryptorchidism, Obesity, Micropenis OMIM:615547
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Short stature, Obesity ORPHA:3077
Mody
Large for gestational age, Overweight, Nephropathy, Obesity, Renal cyst, Glycosuria, Intrauterine... ORPHA:552
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Short stature, Obesity, Pigmentary retinopathy, Delayed puberty, Rod-cone dystrophy ORPHA:2235
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Short stature, Obesity, Tall stature OMIM:618089
Campomelic Dysplasia
Depressed nasal bridge, Hydronephrosis, Short stature, Abnormality of the sense of smell ORPHA:140
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
48,Xxyy Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Azoospermia, Decreased testicular size, Tall stature ORPHA:10
Pseudohypoparathyroidism, Type Ib
Obesity, Low urinary cyclic AMP response to PTH administration OMIM:603233
Kufor-Rakeb Syndrome
Hyposmia, Anosmia OMIM:606693
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Postnatal growth retardation, Bilateral cryptorchidism, Chordee... ORPHA:96179
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Nasal congestion, Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Hypospadias, Cryptorchidism, Obesity, Nephropathy OMIM:194072
Hereditary Late-Onset Parkinson Disease
Hyposmia, Spastic/hyperactive bladder, Orthostatic hypotension due to autonomic dysfunction, Weig... ORPHA:411602
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Short stature, Anteverted nares, Retinal degeneration OMIM:272200
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Man1B1-Cdg
Wide nose, Prominent nose, Wide nasal bridge, Truncal obesity, Underdeveloped nasolabial fold ORPHA:397941
Luscan-Lumish Syndrome
Long nose, Overgrowth, Obesity, Short stature OMIM:616831
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization, Cryptorchidism ORPHA:404451
8P23.1 Microdeletion Syndrome
Short stature, Prominent nasal bridge, Hypospadias, Cryptorchidism, Wide nasal bridge, Obesity, W... ORPHA:251071
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Desbuquois Dysplasia 1
Severe short stature, Depressed nasal bridge, Obesity, Growth delay, Concave nasal ridge, Disprop... OMIM:251450
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Radio-Tartaglia Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Bulbous nose, Wide nasal bridge... OMIM:619312
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Prominent nasal bridge, Proportionate short stature, Obesity, Growth delay, Moderate albuminuria,... OMIM:619269
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Depressed nasal bridge, Anteverted nares, Obesity, Underdeveloped nasal alae OMIM:608624
Joubert Syndrome 6
Retinal degeneration, Stage 5 chronic kidney disease, Chorioretinal coloboma, Nephronophthisis OMIM:610688
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short nose, Overgrowth, Wide nasal bridge, Obesity OMIM:620250
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Abnormality of the sense of smell ORPHA:958
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Prominent nose, Obesity, Severe postnatal growth retardation, Severe intrauterine ... ORPHA:319675
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Broad nasal tip, Bulbous nose, Truncal obesity, Micropenis, Decreased testicular size ORPHA:3041
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Vesicoureteral reflux, Obesity, Hyposmia, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Shox-Related Short Stature
Short stature, Obesity ORPHA:314795
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Cryptorchidism, Obesity, Growth delay... ORPHA:96147
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Promi... ORPHA:193
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Depressed nasal bridge, Obesity, Short sta... OMIM:612462
Marbach-Schaaf Neurodevelopmental Syndrome
Enuresis nocturna, Depressed nasal bridge, Obesity, Broad nasal tip OMIM:619680
Achondroplasia
Rhizomelia, Depressed nasal bridge, Anteverted nares, Disproportionate short stature, Obesity, Sh... ORPHA:15
Hurler Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal tip, Heparan sulfate excreti... OMIM:607014
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Short stature, Underdevel... ORPHA:1001
Werner Syndrome
Short stature, Convex nasal ridge, Retinal degeneration OMIM:277700
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Recurrent upper respiratory tract infections, Obesity, Orthostatic hyp... ORPHA:66628
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal nasal morphology, Truncal obesity, Hypospadias ORPHA:3224
White-Sutton Syndrome
Failure to thrive, Depressed nasal bridge, Optic nerve hypoplasia, Short stature, Broad nasal tip... OMIM:616364
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Depressed nasal bridge, Obesity, Short sta... OMIM:103580
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Obesity, Intrauterine growth ... ORPHA:254346
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Prominent nasal bridge, Unilateral renal agenesis, Broad nasal tip, Long nose, Cry... OMIM:616541
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Recurrent upper respiratory tract infections, Obesity, Orthostatic hyp... ORPHA:179494
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Chops Syndrome
Anteverted nares, Short stature, Cryptorchidism, Optic atrophy, Obesity, Horseshoe kidney, Vesico... OMIM:616368
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Depressed nasal bridge, Optic atrophy, Obesity, Short stature OMIM:618493
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cryptorchidism, Anosmia, Single naris, Absent nares, Hyposmia ORPHA:2250
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Postnatal growth retardation, Reti... ORPHA:1435
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypospadias, Cryptorchidism, Anosmia, Delayed puberty, Micropenis OMIM:619718
Tatton-Brown-Rahman Syndrome
Proportionate short stature, Cryptorchidism, Obesity, Short columella, Proportionate tall stature ORPHA:404443
Sim1-Related Prader-Willi-Like Syndrome
Narrow nasal bridge, Cryptorchidism, Obesity, Chorioretinal hypopigmentation, Abdominal obesity, ... ORPHA:398079
Pseudopseudohypoparathyroidism
Intrauterine growth retardation, Short stature, Obesity ORPHA:79445
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Hypospadias, Postnatal growth retardation,... ORPHA:813
Mucolipidosis Iii Alpha/Beta
Short stature, Retinopathy, Retinal degeneration OMIM:252600
Carpenter Syndrome 1
Hydroureter, Depressed nasal bridge, Short stature, Cryptorchidism, Optic atrophy, Obesity, Hydro... OMIM:201000
Monosomy 13Q34
Prominent nasal bridge, Epistaxis, Broad nasal tip, Prominent nose, Obesity, Growth delay ORPHA:96168
Bardet-Biedl Syndrome 20
Papilledema, Proteinuria, Bilateral cryptorchidism, Obesity, Retinal vascular tortuosity, Micrope... OMIM:619471
Young-Onset Parkinson Disease
Hyposmia, Abnormal autonomic nervous system physiology ORPHA:2828
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Waardenburg Syndrome, Type 2E
Anosmia, Ocular albinism, Hypopigmentation of the fundus OMIM:611584
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Orthostatic hypotension, Obesity, Retinal degeneration ORPHA:2822
Aceruloplasminemia
Retinal degeneration OMIM:604290
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Bdv Syndrome
Cryptorchidism, Micropenis, Obesity, Delayed puberty OMIM:619326
48,Xxxy Syndrome
Hypoplasia of penis, Cryptorchidism, Depressed nasal ridge, Obesity, Azoospermia, Decreased testi... ORPHA:96263
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Depressed nasal bridge, Lattice retinal de... ORPHA:485
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Cockayne Syndrome Type 3
Optic disc pallor, Renal insufficiency, Retinal atrophy, Retinal dystrophy, Mild postnatal growth... ORPHA:90324
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short stature, Cachexia, Prominent nose, Obesity, Decreased testicular size ORPHA:85293
Carpenter Syndrome
Cryptorchidism, Obesity ORPHA:65759
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Short stature, Hypospadias, Cryptorch... ORPHA:261494
Meningioma
Papilledema, Urinary incontinence, Facial palsy, Obesity, Abnormality of the sense of smell ORPHA:2495
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Short stature, Wide nasal bridge, Growth delay, Truncal obesity, Decreased ... OMIM:270450
Craniopharyngioma
Papilledema, Abnormal nasal bone morphology, Proportionate short stature, Postnatal growth retard... ORPHA:54595
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, Cry... ORPHA:191
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Ketonuria, Macular coloboma, Hemolytic-uremic syndrome, Optic atrophy, Methy... ORPHA:79282
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Congenital-Onset Steinert Myotonic Dystrophy
Enuresis, Obesity, Decreased body weight ORPHA:589821
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Anteverted nares, Prominent nasal bridge, Short stature, Obesity OMIM:618443
Kleefstra Syndrome 1
Anteverted nares, Hypospadias, Cryptorchidism, Obesity, Micropenis OMIM:610253
Down Syndrome
Aganglionic megacolon, Depressed nasal bridge, Depressed nasal ridge, Obesity, Short nose ORPHA:870
Mannosidosis, Alpha B, Lysosomal
Growth delay, Depressed nasal ridge, Retinal degeneration OMIM:248500
Superficial Siderosis
Partial anosmia, Functional abnormality of the bladder, Anosmia, Abnormality of the vestibulococh... ORPHA:247245
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Optic atroph... OMIM:619321
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Obesity OMIM:300055
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Abdominal obesity, Increased body weight OMIM:615954
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Truncal obesity, Decreased testicular size ORPHA:127
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Charge Syndrome
Depressed nasal bridge, Choanal atresia, Short stature, Facial palsy, Postnatal growth retardatio... ORPHA:138
Moebius Syndrome
Facial palsy, Abnormality of the sense of smell ORPHA:570
Senior-Loken Syndrome 8
Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Stage 5 chronic kidney disease, Ne... OMIM:616307
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Cryptorchidism, Obesity, Hyposthenuria, Vesicoureteral reflux,... OMIM:615926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Depressed nasal bridge, Broad nasal tip, Dilatation of renal calices, Bulbous nose, Wide nasal br... ORPHA:466950
Leopard Syndrome 1
Short stature, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Depressed nasal ridge, Mic... OMIM:151100
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity OMIM:615980
White-Sutton Syndrome
Depressed nasal bridge, Short stature, Broad nasal tip, Optic atrophy, Obesity, Rod-cone dystrophy ORPHA:468678
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Obesity OMIM:617296
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Neurogenic bladder OMIM:619780
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Retinal atrophy ORPHA:412057
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Cockayne Syndrome A
Slender nose, Renal insufficiency, Retinal atrophy, Short stature, Proteinuria, Abnormal auditory... OMIM:216400
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Wilson Disease
Hyperphosphaturia, Proteinuria, Decreased nerve conduction velocity, Nephrolithiasis, Hypercalciu... OMIM:277900
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Alstrom Syndrome
Cone/cone-rod dystrophy, Renal insufficiency, Short stature, Pigmentary retinopathy, Tubulointers... OMIM:203800
Knobloch Syndrome
Retinal detachment, Depressed nasal bridge, Abnormal vitreous humor morphology, Macular degenerat... ORPHA:1571
Perrault Syndrome 4
Disproportionate tall stature, Obesity OMIM:615300
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Metaphyseal Chondrodysplasia, Schmid Type
Disproportionate short-limb short stature, Obesity ORPHA:174
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Bohring-Opitz Syndrome
Retinal atrophy, Anteverted nares, Depressed nasal bridge, Short stature, Optic atrophy, Wide nas... ORPHA:97297
Magel2-Related Prader-Willi-Like Syndrome
Narrow nasal bridge, Short stature, Cryptorchidism, Increased body weight, Chorioretinal hypopigm... ORPHA:398069
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal tip, Optic disc coloboma, Wi... OMIM:617157
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Cryptorchidism, Anosmia OMIM:613266
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Disproportionate tall stature, Abdominal obesity OMIM:301039
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Wide nose, Short stature, Abnormal foveal morph... ORPHA:580
Prader-Willi Syndrome
Narrow nasal bridge, Failure to thrive in infancy, Short stature, Cryptorchidism, Obesity, Abdomi... OMIM:176270
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Choanal atresia, Cryptorchidism, Anosmia, Aplasia of the nose, Micropenis OMIM:603457
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Abdominal obesity, Obesity OMIM:219090
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short stature, Obesity OMIM:618395
7Q11.23 Microduplication Syndrome
Short stature, Hypospadias, Unilateral renal agenesis, Broad nasal tip, Cryptorchidism, Obesity, ... ORPHA:96121
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity ORPHA:247768
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Obesity ORPHA:261197
White-Kernohan Syndrome
Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Horses... OMIM:619426
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Prominent nasal bridge, Prominent nose, Postnatal growth retardation, Disproportiona... OMIM:210720
Angelman Syndrome
Optic disc pallor, Delayed menarche, Optic atrophy, Obesity ORPHA:72
Narcolepsy 7
Obesity OMIM:614250
3Q29 Microduplication Syndrome
Wide nasal bridge, Obesity ORPHA:251038
Desbuquois Dysplasia 2
Severe short stature, Depressed nasal bridge, Postnatal growth retardation, Truncal obesity, Intr... OMIM:615777
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Short stature, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis, R... OMIM:208500
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Optic atrophy, Obesity, Short stature OMIM:614947
Mucopolysaccharidosis Type 3
Thick nasal alae, Adenoiditis, Heparan sulfate excretion in urine, Optic atrophy, Pigmentary reti... ORPHA:581
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Short stature, Broad nasal tip, Prominent nose, Obesity, I... ORPHA:177907
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Underdeveloped nasal alae, Prominent nose, Disproportionate short stature, Wide nasal bridge, Tru... ORPHA:2637
Distal Deletion 12Q
Anteverted nares, Failure to thrive in infancy, Short stature, Unilateral cryptorchidism, Ectopic... ORPHA:96149
Adiposis Dolorosa
Obesity ORPHA:36397
Farber Disease
Short stature, Recurrent upper respiratory tract infections, Macular degeneration, Cherry red spo... ORPHA:333
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity OMIM:609734
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity, Abnormal neuron morphology ORPHA:163681
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Broad nasal tip, Dilatation of renal calices, Bulbous nose, Obesity, Wide... ORPHA:466943
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98855
Den Hoed-De Boer-Voisin Syndrome
Overweight, Intrauterine growth retardation, Obesity, Decreased body weight OMIM:619229
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Depressed nasal bridge, Wide nasal bridge, Renal cyst, Obesity, Nephrocalcinosis, Hypercalciuria,... ORPHA:369837
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity ORPHA:26793
Trichothiodystrophy
Cryptorchidism, Macular degeneration, Retinal degeneration, Intrauterine growth retardation ORPHA:33364
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
X-Linked Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98853
Generalized Pustular Psoriasis
Overweight, Renal insufficiency, Obesity ORPHA:247353
Wagro Syndrome
Decreased testicular size, Proteinuria, Obesity OMIM:612469
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Anteverted nares, Cryptorchidism, Optic atrophy, Obesity, Moderate albuminuria OMIM:614231
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Failure to thrive, Depressed nasal bridge, Retinal dystrophy, Short stature... OMIM:266920
Ulnar-Mammary Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Renal hypoplasia, Delayed puberty ORPHA:3138
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Failure to thrive, Abnormal fundus morphology ORPHA:94147
1P21.3 Microdeletion Syndrome
Short nose, Obesity, Broad nasal tip ORPHA:293948
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Short stature, Abnormal retinal morphology, Cranial nerve compression, Optic atr... ORPHA:2785
Kabuki Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Short stature, Hypospadias, Cryptorchidism, Obe... ORPHA:2322
Helsmoortel-Van Der Aa Syndrome
Anteverted nares, Short stature, Facial palsy, Broad nasal tip, Cryptorchidism, Wide nasal bridge... OMIM:615873
Angelman Syndrome
Obesity OMIM:105830
Occipital Horn Syndrome
Bladder diverticulum, Abnormality of the sense of smell ORPHA:198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Short nasal bridge, ... OMIM:253280
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Amoebiasis Due To Free-Living Amoebae
Hyposmia, Facial palsy ORPHA:68
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Alport Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Macular degeneration... ORPHA:63
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Short stature, Cryptorchidism, Obesity, Delayed puberty, Failure to th... ORPHA:98754
Bloom Syndrome
Small for gestational age, Oligozoospermia, Growth delay, Severe postnatal growth retardation, Ab... ORPHA:125
Say-Barber-Miller Syndrome
Short stature, Prominent nasal bridge, Broad nasal tip, Cryptorchidism, Optic atrophy, Macular de... ORPHA:3132
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small for gestational age, Short stature, Cryptorchidism, Obesity, Delayed puberty, Failure to th... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small for gestational age, Short stature, Cryptorchidism, Obesity, Delayed puberty, Failure to th... ORPHA:177904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Retin... OMIM:236670
Low Phospholipid-Associated Cholelithiasis
Overweight, Obesity ORPHA:69663
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small for gestational age, Short stature, Cryptorchidism, Obesity, Delayed puberty, Failure to th... ORPHA:177901
22Q11.2 Deletion Syndrome
Short stature, Prominent nasal bridge, Choanal atresia, Aganglionic megacolon, Retinal arteriolar... ORPHA:567
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Anteverted nares, Retinal degeneration OMIM:618479
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Enuresis, Failure to thrive, Convex nasal ridge, Obesity ORPHA:369950
Aromatase Deficiency
Eunuchoid habitus, Macroorchidism, postpubertal, Cryptorchidism, Obesity, Growth delay, Tall stature ORPHA:91
Congenital Analbuminemia
Small for gestational age, Obesity ORPHA:86816
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Urinary incontinence, Abnormal autonomic nervous system physiology, Abnorma... ORPHA:247234
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Wide nose, Obesity OMIM:616078
Xylt1-Cdg
Growth delay, Truncal obesity, Short stature ORPHA:370930
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Hypospadias, Overweight, Bulbous nose, Wide nasal bridge, Obesity, Depressed na... OMIM:619475
Peripartum Cardiomyopathy
Obesity ORPHA:563
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Testicular neoplasm, Fove... ORPHA:71505
Pseudohypoparathyroidism Type 1C
Low urinary cyclic AMP response to PTH administration, Depressed nasal bridge, Obesity, Short sta... ORPHA:79444
1P36 Deletion Syndrome
Hypoplasia of penis, Depressed nasal bridge, Short stature, Hypospadias, Cryptorchidism, Depresse... ORPHA:1606
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Short stature, Abnormal testis morphology, Delayed puberty, ... ORPHA:79474
Charge Syndrome
Choanal atresia, Facial palsy, Postnatal growth retardation, Cryptorchidism, Anosmia, Renal hypop... OMIM:214800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Short stature, Hypospadias, Cryptorchidism, Obesity, Nephrolithiasis, Growth delay, Hydronephrosi... ORPHA:353281
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Diamond-Blackfan Anemia 21
Short stature, Obesity OMIM:620072
45,X/46,Xy Mixed Gonadal Dysgenesis
Short stature, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Cryptorchidism, ... ORPHA:1772
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity OMIM:610475
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Depressed nasal bridge, Bifid nose, Obesity OMIM:301066
Neutral Lipid Storage Disease With Ichthyosis
Short stature, Obesity ORPHA:98907
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Nephrolithiasis, Abdominal obesity, Increased body weight ORPHA:189427
Prader-Willi Syndrome
Narrow nasal bridge, Short stature, Cryptorchidism, Abdominal obesity, Failure to thrive, Decreas... ORPHA:739
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Truncal obesity OMIM:610489
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Obesity, Weight loss, Urinary retention, Abnormality of peripheral n... ORPHA:79102
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Anteverted nares, Depressed nasal bridge, Short stature, Hypospadias, Triangular nasal tip, Crypt... OMIM:309580
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Cryptorchidism, Anosmia, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis ORPHA:2363
Witteveen-Kolk Syndrome
Wide nose, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Underdeveloped nasal... OMIM:613406
Sheehan Syndrome
Orthostatic hypotension, Hyposthenuria, Obesity ORPHA:91355
Pseudohypoparathyroidism Type 1A
Low urinary cyclic AMP response to PTH administration, Depressed nasal bridge, Obesity, Short sta... ORPHA:79443
Myhre Syndrome
Small for gestational age, Prominent nasal bridge, Short stature, Cryptorchidism, Obesity, Birth ... OMIM:139210
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Disproportionate short-limb short stature, Obesity OMIM:250420
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large for gestational age, Cryptorchidism, Nephropathy, Obesity, Nephrolith... ORPHA:116
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Anteverted nares, Short stature, Hypospadias, Obesity, Horseshoe kidney, Vesicoureteral reflux, S... ORPHA:444077
Williams-Beuren Syndrome
Renal insufficiency, Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Broa... OMIM:194050
17Q24.2 Microdeletion Syndrome
Vesicoureteral reflux, Truncal obesity, Failure to thrive in infancy, Wide nasal bridge ORPHA:529962
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Recurrent upper respiratory tract infect... ORPHA:293987
Monosomy 22Q13.3
Bulbous nose, Wide nasal bridge, Obesity, Vesicoureteral reflux, Recurrent pyelonephritis, Hydron... ORPHA:48652
Gaisböck Syndrome
Overweight, Nephrocalcinosis, Obesity, Hypernatriuria ORPHA:90041
Adnp Syndrome
Depressed nasal bridge, Short stature, Urinary incontinence, Cryptorchidism, Recurrent upper resp... ORPHA:404448
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Urinary incontinence, Retinal degeneration OMIM:234200
Rubinstein-Taybi Syndrome 1
Small for gestational age, Short stature, Hypospadias, Prominent nose, Postnatal growth retardati... OMIM:180849
Dysbetalipoproteinemia
Obesity ORPHA:412
Lysinuric Protein Intolerance
Short stature, Oroticaciduria, Stage 5 chronic kidney disease, Truncal obesity, Aminoaciduria, Hy... OMIM:222700
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Depressed nasal bridge, Hypospadias, Ectopic kidney, Cryptorchidism, Optic dis... OMIM:607872
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Obesity, Nephrolithiasi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Obesity, Nephrolithiasi... ORPHA:353277
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Choa... ORPHA:199
Carpenter Syndrome 2
Depressed nasal bridge, Anteverted nares, Bilateral cryptorchidism, Cryptorchidism, Wide nasal br... OMIM:614976
6Q Terminal Deletion Syndrome
Failure to thrive, Hypospadias, Obesity, Phimosis ORPHA:75857
Williams Syndrome
Hypoplasia of penis, Renal insufficiency, Failure to thrive in infancy, Short stature, Proteinuri... ORPHA:904
Cushing Disease
Increased urinary cortisol level, Increased body weight, Truncal obesity, Abdominal obesity, Opti... ORPHA:96253
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Short stature, High urinary gonadotropin level, Ectopic kidney, Pos... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Short stature, High urinary gonadotropin level, Ectopic kidney, Pos... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Short stature, High urinary gonadotropin level, Ectopic kidney, Pos... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Short stature, High urinary gonadotropin level, Ectopic kidney, Pos... ORPHA:99226
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity, Short stature OMIM:301072
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Bulbous nose, T... OMIM:612474
Neutral Lipid Storage Myopathy
Short stature, Obesity ORPHA:98908
Digeorge Syndrome
Renal insufficiency, Short stature, Unilateral renal agenesis, Obesity, Hydrocele testis, Recurre... OMIM:188400
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Micr... ORPHA:64
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Ulnar-Mammary Syndrome
Micropenis, Obesity, Delayed puberty OMIM:181450
Carney Complex
Testicular neoplasm, Increased body weight, Testicular adrenal rest tumor, Oligozoospermia, Neopl... ORPHA:1359
Primrose Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal tip, Bilateral cryptorchidis... OMIM:259050
Pallister-Killian Syndrome
Depressed nasal bridge, Anteverted nares, Rhizomelia, Mesomelic/rhizomelic limb shortening, Hypos... OMIM:601803
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Increased body weight, Weight loss, Truncal obesity, Abdominal ... ORPHA:99889

Histopathology

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

There is no histopathology data for Ttc8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ttc8.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment. PLoS genetics (April 2021) Ttc8tm1c(KOMP)Wtsi PMC8061871
The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina. Scientific reports (May 2020) Ttc8tm1c(KOMP)Wtsi Ttc8tm1d(KOMP)Wtsi PMC7239920
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Ttc8tm1a(KOMP)Wtsi Ttc8tm1d(KOMP)Wtsi 32290105
Absence of BBSome function leads to astrocyte reactivity in the brain. Molecular brain (May 2019) Ttc8tm1c(KOMP)Wtsi Ttc8tm1d(KOMP)Wtsi PMC6509862
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. Human molecular genetics (January 2018) Ttc8tm1c(KOMP)Wtsi Ttc8tm1a(KOMP)Wtsi 29126234
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. PLoS genetics (October 2017) Ttc8tm1c(KOMP)Wtsi Ttc8tm1a(KOMP)Wtsi Ttc8tm1d(KOMP)Wtsi PMC5663628

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ttc8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ttc8tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ttc8tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ttc8tm42343(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ttc8tm42343(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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