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

IMPC Data Collections

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

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.

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
Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615990
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Bardet-Biedl Syndrome 10
Obesity, Renal insufficiency, Renal cyst, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency, Rod-cone dystrophy OMIM:615991
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Bardet-Biedl Syndrome 11
Obesity, Retinopathy OMIM:615988
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy OMIM:603649
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Morm Syndrome
Micropenis, Retinal atrophy, Truncal obesity, Retinal dystrophy ORPHA:75858
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Bone spicule pigmentation of the retin... OMIM:618889
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy OMIM:136550
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Retinal Dystrophy And Obesity
Obesity, Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detac... OMIM:616188
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Bardet-Biedl Syndrome 16
Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Retinal degeneration, Renal cyst, R... OMIM:615993
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Bardet-Biedl Syndrome 5
Micropenis, Obesity, Macular dystrophy, Rod-cone dystrophy OMIM:615983
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Nephronophthisis 15
Obesity, Nephronophthisis, Retinal degeneration OMIM:614845
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:609923
Bardet-Biedl Syndrome 21
Retinal thinning, Horseshoe kidney, Obesity, Hyperautofluorescent macular lesion, Cone/cone-rod d... OMIM:617406
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Bardet-Biedl Syndrome 4
Renal cyst, Obesity, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Bardet-Biedl Syndrome 17
Anosmia, Obesity, Stage 5 chronic kidney disease, Cone/cone-rod dystrophy, Retinal degeneration, ... OMIM:615994
Bardet-Biedl Syndrome 19
Renal hypoplasia, Obesity, Renal insufficiency, Cone/cone-rod dystrophy, Hydronephrosis, Rod-cone... OMIM:615996
Oliver-Mcfarlane Syndrome
Severe short stature, Pigmentary retinopathy, Retinal degeneration, Delayed puberty, Hypoplasia o... OMIM:275400
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
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
Autism, Susceptibility To, X-Linked 6
Obesity, Underdeveloped nasal alae OMIM:300872
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Underdeveloped nasal alae, Attenuation of retinal blood vessels, Bone spicule pigmentation of the... OMIM:616108
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy OMIM:610156
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Cone-Rod Dystrophy 11
Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy OMIM:610381
Hernández-Aguirre Negrete Syndrome
Bulbous nose, Obesity, Delayed puberty ORPHA:2139
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Delayed puberty, Hyposmia OMIM:615271
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Senior-Loken Syndrome 7
Nephronophthisis, Retinal degeneration OMIM:613615
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Anosmia, Obesity, Hyposmia OMIM:610628
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration, Micropenis, Growth delay, Small for gestational age ORPHA:3363
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Bardet-Biedl Syndrome 2
Obesity, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Obesity, Rod-cone dystrophy OMIM:615984
Syndromic X-Linked Intellectual Disability 7
Short stature, Obesity, Micropenis, Hypoplasia of penis ORPHA:85274
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Thumb Agenesis, Short Stature, And Immunodeficiency
Short stature, Anosmia, Delayed puberty OMIM:274190
Intellectual Developmental Disorder, X-Linked 91
Obesity, Short nose OMIM:300577
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rhizomelia, Cone/cone-rod dystrophy, Retinal degeneration, Disproportionate short-... OMIM:602271
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia, Obesity OMIM:619755
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Bulbous nose, Intrauterine growth retardation, Truncal obesity, Short stature ORPHA:261483
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis, Retinal degeneration OMIM:257970
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Bardet-Biedl Syndrome 22
Macular hypopigmentation, Obesity, Large for gestational age, Rod-cone dystrophy OMIM:617119
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Growth delay, Retinal degeneration OMIM:614322
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Body Mass Index Quantitative Trait Locus 19
Anosmia, Obesity, Hyposmia OMIM:617885
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Subretinal deposits, Macular degeneration, Choriocapillaris atrophy OMIM:601553
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Failure to thrive in infancy, Obesity, Enuresis, Short nose OMIM:613670
Chromosome Xq21 Deletion Syndrome
Obesity, Chorioretinal degeneration, Chorioretinal atrophy, Choroideremia OMIM:303110
Laurence-Moon Syndrome
Pigmentary retinopathy, Obesity, Chorioretinal atrophy, Micropenis, Short stature OMIM:245800
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Short stature, Obesity OMIM:619058
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Choanal atresia, Postnatal growth retardation, Abnormali... ORPHA:91412
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Bardet-Biedl Syndrome 9
Obesity, Attenuation of retinal blood vessels, Renal insufficiency, Retinal degeneration, Bone sp... OMIM:615986
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration OMIM:204200
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
11P15.4 Microduplication Syndrome
Obesity, Anteverted nares ORPHA:300305
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Retinal degenerat... OMIM:613824
Retinitis Pigmentosa 51
Macular degeneration, Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of... OMIM:613464
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Micropenis, Abnormality of the sense of smell OMIM:146110
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Recurrent upper respiratory tract infections OMIM:300209
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Obesity, Growth delay ORPHA:171706
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Short stature, Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration OMIM:614844
Bardet-Biedl Syndrome 3
Renal hypoplasia, Obesity, Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Depressed nasal bridge, Short nasal septum, Short stature, Short nose OMIM:302950
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Growth delay ORPHA:140941
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula... OMIM:608161
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Short stature, Obesity, Hypoplasia of penis ORPHA:3055
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Urinary bladder sphincter dysfunction, Obesity, Retinal degeneration, Urina... OMIM:604360
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Rod-cone dystrophy OMIM:615985
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Obesity, Wide nose ORPHA:276630
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration OMIM:256730
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Mehmo Syndrome
Broad nasal tip, Obesity, Depressed nasal tip, Birth length less than 3rd percentile, Delayed pub... OMIM:300148
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell ORPHA:1135
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Decreased motor nerve conduction velocity, Hyposmia OMIM:613724
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Short stature, Obesity, Retinal dystrophy OMIM:616756
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Bifid nose, Anosmia, Micropenis, Hyposmia OMIM:614838
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Senior-Loken Syndrome 9
Macular degeneration, Nephronophthisis, Obesity, Stage 5 chronic kidney disease, Rod-cone dystrop... OMIM:616629
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Micropenis, Anosmia, Delayed puberty, Hyposmia OMIM:612702
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia, Rod-cone dystrophy OMIM:614879
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Obesity OMIM:620270
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Obesity, Prominent nasal bridge, Vesicoureteral reflux, Proteinuria, Agan... ORPHA:261222
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy, Anosmia, Hyposmia OMIM:144755
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia, Delayed puberty OMIM:615270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Intrauterine growth retardation, Prominent nose, Retinopathy, Macular atrophy, Sho... OMIM:616171
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Idiopathic Intracranial Hypertension
Obesity, Papilledema, Focal sensory seizure with olfactory features ORPHA:238624
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Obesity, Renal cyst, Rod-cone dystrophy, Hypospadias OMIM:605231
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Depressed nasal bridge, Abnormal auditory evoked potentials, Geographic atrophy, Attenuation of r... OMIM:619260
Non-Acquired Isolated Growth Hormone Deficiency
Depressed nasal bridge, Microphallus, Delayed puberty, Abdominal obesity, Short stature, Growth d... ORPHA:631
Refsum Disease, Classic
Anosmia, Abnormal renal physiology, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Short stature, Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Leptin Deficiency Or Dysfunction
Micropenis, Obesity, Recurrent upper respiratory tract infections OMIM:614962
Immunodeficiency 61
Obesity, Recurrent sinusitis OMIM:300310
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Delayed puberty, Micropenis, Short stature, Hyposmia OMIM:147950
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Obesity, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Rafiq Syndrome
Wide nasal bridge, Bulbous nose, Obesity, Prominent nose, Underdeveloped nasolabial fold, Truncal... OMIM:614202
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Short stature, Anosmia, Frontalis muscle weakness, Wide nasal bridge OMIM:210745
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Trisomy 5P
Short stature, Obesity, Hypoplasia of penis ORPHA:1742
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Ceroid Lipofuscinosis, Neuronal, 10
Wide nasal bridge, Retinal atrophy, Rod-cone dystrophy, Neonatal death OMIM:610127
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613660
Atkin-Flaitz Syndrome
Short stature, Obesity, Broad nasal tip, Anteverted nares ORPHA:1193
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity, Overweight OMIM:614651
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Summitt Syndrome
Depressed nasal ridge, Obesity, Tall stature, Wide nose ORPHA:3210
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Anosmia, Unilateral renal agenesis, Hyposmia OMIM:244200
Temple Syndrome
Depressed nasal bridge, Intrauterine growth retardation, Obesity, Anteverted nares, Truncal obesi... OMIM:616222
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Wide nasal bridge, Obesity, Congenital stationary night blindness ORPHA:352530
Joubert Syndrome 10
Wide nasal bridge, Obesity, Decreased body weight, Rod-cone dystrophy, Short stature, Growth delay OMIM:300804
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
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
Biemond Syndrome Type 2
Short stature, Hypospadias, Obesity, Delayed puberty ORPHA:141333
Musk, Inability To Smell
Anosmia OMIM:254150
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Nephrocalcinosis, Rod-cone dystrophy OMIM:615633
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Obesity, Wide nasal bridge OMIM:616521
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Obesity, Short nose OMIM:611936
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Broad nasal tip, Postnatal growth retardation, Obesity, Bulbous nose, Ant... ORPHA:480907
Hsd10 Mitochondrial Disease
Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration OMIM:300438
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Anosmia, Abnormal autonomic nervous system physiology, Urinar... OMIM:243000
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Bulbous nose, Obesity OMIM:300238
Aural Atresia, Congenital
Hyposmia OMIM:607842
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Clark-Baraitser Syndrome
Depressed nasal bridge, Obesity, Anteverted nares, Low hanging columella, Short nose OMIM:617752
Adiposis Dolorosa
Obesity OMIM:103200
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Obesity, Anteverted nares, Convex nasal ridge, Short stature ORPHA:1035
Septo-Optic Dysplasia Spectrum
Anosmia, Obesity, Short stature, Hypoplasia of penis, Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Huntington Disease
Weight loss, Abnormality of the sense of smell, Decreased body mass index ORPHA:399
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Depressed nasal bridge, Postnatal growth retardation, Obesity, Intrauterine growth retardation, A... ORPHA:96184
Johnson Neuroectodermal Syndrome
Severe short stature, Choanal atresia, Anosmia, Failure to thrive, Bulbous nose, Facial palsy ORPHA:2316
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness ORPHA:75382
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Macular dots, Short stature, Retinal pigment epithelial a... OMIM:270200
Wilson-Turner Syndrome
Short stature, Broad nasal tip, Truncal obesity ORPHA:3459
11Q22.2Q22.3 Microdeletion Syndrome
Depressed nasal bridge, Obesity ORPHA:444002
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Obesity ORPHA:329249
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Unilateral renal agenesis, Azoospermia, Eunuchoid habitus, Micropenis, Hyposmia OMIM:308700
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Childhood-onset truncal obesity, Delayed puberty, Growth delay ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Childhood-onset truncal obesity, Delayed puberty, Growth delay ORPHA:71526
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Anosmia, Unilateral renal agenesis, Eunuchoid habitus OMIM:308750
Alg6-Cdg
Failure to thrive, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Obesity, Intrauterine growth retardation, Wide nose ORPHA:254531
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis, Obesity, Retinal degeneration, Short stature OMIM:615630
Borjeson-Forssman-Lehmann Syndrome
Short stature, Obesity, Delayed puberty, Micropenis OMIM:301900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy, Short stature OMIM:249270
Morbid Obesity And Spermatogenic Failure
Obesity, Azoospermia, Oligozoospermia OMIM:615703
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Renal hypoplasia, Obesity, Anteverted nares, Short columella, Micropenis,... ORPHA:171839
6Q16 Microdeletion Syndrome
Depressed nasal bridge, Bulbous nose, Obesity, Anteverted nares ORPHA:171829
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Mehmo Syndrome
Micropenis, Obesity, Growth delay, Hypoplasia of penis ORPHA:85282
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
14Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Obesity ORPHA:261229
Chromosome Xq27.3-Q28 Duplication Syndrome
Bulbous nose, Intrauterine growth retardation, Abdominal obesity, Short stature, Small for gestat... OMIM:300869
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Short nose ORPHA:2429
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy OMIM:601152
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Intrauterine growth retardation, Obesity, Anteverted nares, Hypospadias, ... OMIM:614613
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Bone spicule pigmentat... OMIM:617547
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Postnatal growth retardation, Truncal obesity, Abdominal obesity OMIM:618160
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Chung-Jansen Syndrome
Obesity, Anteverted nares, Short nose OMIM:617991
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity, Anteverted nares, Short nose OMIM:619854
Laron Syndrome
Severe short stature, Depressed nasal ridge, Hypoplastic nasal bridge, Aplasia/Hypoplasia involvi... ORPHA:633
Rhizomelic Limb Shortening With Dysmorphic Features
Wide nasal bridge, Obesity, Rhizomelia, Stage 1 chronic kidney disease OMIM:618821
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Micropenis, Anosmia OMIM:614880
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Bulbous nose, Obesity, Tall stature, Micropenis OMIM:620439
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
X-Linked Intellectual Disability, Stevenson Type
Thick nasal alae, Tall stature, Obesity, Broad columella ORPHA:85325
Megalencephaly
Wide nasal bridge, Long penis, Truncal obesity ORPHA:2477
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Abnormality of the sense of smell ORPHA:3201
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Anosmia, Azoospermia, Hyposmia OMIM:614897
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Retinitis Pigmentosa
Optic atrophy, Obesity, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation... ORPHA:791
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Midnasal stenosis, Short stature, Abnormal nasopharynx morphology, Pyri... OMIM:147250
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Abnormality of the sense of smell OMIM:229070
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Broad nasal tip, Postnatal growth retardation, Anteverted nares, Prominen... OMIM:300882
Obesity Due To Sim1 Deficiency
Obesity, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system ph... ORPHA:369873
Sjögren-Larsson Syndrome
Short stature, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy ORPHA:816
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Absent pubertal growth spurt, Obesity, Short stature, Retinal dystrophy ORPHA:464282
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Obesity, Prominent nose, Anteverted nares ORPHA:2180
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Obesity, Abnormality of retinal pigmentation ORPHA:3085
Clark-Baraitser syndrome
Tall stature, Obesity, Broad nasal tip, Anteverted nares OMIM:300602
X-Linked Intellectual Disability, Shashi Type
Bulbous nose, Obesity ORPHA:85286
Pseudopseudohypoparathyroidism
Short stature, Depressed nasal bridge, Obesity OMIM:612463
Joubert Syndrome 37
Wide nasal bridge, Obesity, Anteverted nares, Hydronephrosis, Micropenis, Short stature, Wide nose OMIM:619185
Laurence-Moon Syndrome
Obesity, Renal insufficiency, Displacement of the urethral meatus, Short stature, Hypoplasia of p... ORPHA:2377
Refsum Disease
Anosmia, Abnormality of retinal pigmentation, Renal insufficiency, Retinopathy ORPHA:773
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Hypoplasia of penis, Abnormal nostril morphology, Short nose ORPHA:1295
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Obesity, Azoospermia ORPHA:2183
15Q24 Microdeletion Syndrome
Wide nasal base, Depressed nasal bridge, Failure to thrive, Microphallus, Postnatal growth retard... ORPHA:94065
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Broad columella, Underdeveloped nasal alae, Horseshoe kidney, Intrauterine growth retardation, Re... ORPHA:166035
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Prominent nose, Convex nasal ridge, Low hanging columella OMIM:610543
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Depressed nasal bridge, Organic aciduria, Bulbous nose, Obesity, Prominent nose, Underdeveloped n... OMIM:620191
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning OMIM:615960
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Optic atrophy, Failure to thrive, Retinal degeneration ORPHA:442835
Rabin-Pappas Syndrome
Wide nasal bridge, Broad nasal tip, Failure to thrive in infancy, Obesity, Overgrowth, Retinal de... OMIM:620155
Polyendocrine-Polyneuropathy Syndrome
Short stature, Postnatal growth retardation, Abnormality of the sense of smell OMIM:616113
Hypogonadotropic Hypogonadism 25 With Anosmia
Micropenis, Anosmia OMIM:618841
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Obesity, Intrauterine growth retardation ORPHA:254525
Leptin Receptor Deficiency
Short stature, Obesity, Delayed puberty, Recurrent upper respiratory tract infections OMIM:614963
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Micropenis, Anosmia, Delayed puberty OMIM:614841
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Broad columella, Hypoautofluorescent retinal lesion, Underdeveloped nasal alae, Horseshoe kidney,... OMIM:250410
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Combined Oxidative Phosphorylation Deficiency 54
Intrauterine growth retardation, Obesity, Retrobulbar optic neuritis, Optic disc pallor OMIM:619737
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Anteverted nares, Retinal degeneration OMIM:616211
Retinitis Pigmentosa 74
Optic disc pallor, Obesity, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Chromosome 2Q37 Deletion Syndrome
Depressed nasal bridge, Broad nasal tip, Obesity, Anteverted nares, Short stature, Wide nose OMIM:600430
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Urinary bladder sphincter dysfunction, Retinal degeneration, Urinary incont... OMIM:270700
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Obesity, Prominent nasal bridge, Short stature, Hypoplasia of penis ORPHA:3409
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Hydroxyprolinuria, Retinopathy, Angioid streaks of the fundus, Retinal degener... OMIM:239000
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Short stature, Truncal obesity ORPHA:85280
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Broad columella, Underdeveloped nasal alae, Rod-cone dystrophy, Short stature, Patchy atrophy of ... ORPHA:436245
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Micropenis, Azoospermia, Delayed puberty, Abnormality of the sense of smell OMIM:228300
Microtriplication 11Q24.1
Short stature, Obesity, Wide nose ORPHA:289522
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Decreased nerve conduction velocity, Truncal obesity ORPHA:2928
Pseudopseudohypoparathyroidism
Short stature, Intrauterine growth retardation, Obesity ORPHA:79445
Wagr Syndrome
Short stature, Obesity, Displacement of the urethral meatus ORPHA:893
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Short stature, Obesity ORPHA:2233
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me... ORPHA:67042
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Temple Syndrome
Short stature, Postnatal growth retardation, Obesity, Small for gestational age ORPHA:254516
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Short stature, Obesity, Anteverted nares, Wide nose OMIM:619056
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Failure to thrive in infancy, Abnormality of the urete... ORPHA:819
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Renal hypoplasia, Obesity, Anteverted nares, Vesicoureteral reflux ORPHA:464288
13Q12.3 Microdeletion Syndrome
Failure to thrive, Underdeveloped nasal alae, Intrauterine growth retardation, Obesity, Low inser... ORPHA:412035
Hypotrichosis With Juvenile Macular Degeneration
Short stature, Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Baralle-Macken Syndrome
Urinary incontinence, Obesity OMIM:619255
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe postnata... ORPHA:73272
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Obesity, Eunuchoid habitus, Hypoplasia of penis ORPHA:2234
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Scheie Syndrome
Depressed nasal bridge, Wide nose, Retinal degeneration OMIM:607016
Intellectual Developmental Disorder, Autosomal Recessive 13
Wide nasal bridge, Truncal obesity OMIM:613192
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Prader-Willi Syndrome Due To Imprinting Mutation
Short stature, Obesity ORPHA:177910
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Prominent nasal bridge, Chorioretinal dystrophy, Childhood... OMIM:216550
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Anosmia OMIM:616030
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Obesity, Penile freckling, Large for gestational age, Overgrowth, Short nose OMIM:605309
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Micropenis, Anosmia, Azoospermia OMIM:614837
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Macular degeneration, Renal hypoplasia, Opt... OMIM:120330
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge, Azoospermia, Short stature, Hypoplasia of penis, Growth delay, R... ORPHA:251066
Kallmann Syndrome
Anosmia, Obesity, Delayed puberty, Micropenis, Hypoplasia of penis, Hyposmia ORPHA:478
Bardet-Biedl Syndrome 1
Obesity, Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degen... OMIM:209900
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
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Nasal congestion, Rod-cone dystrophy, Macular atrophy OMIM:615434
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Depressed nasal bridge, Bulbous nose, Delayed puberty, Micropenis, Abdominal obesity, Short statu... OMIM:300354
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Bulbous nose, Obesity, Tall stature, Short nose OMIM:618430
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... OMIM:605549
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Abs... OMIM:300424
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Mild postnatal growth retardation, Disproportiona... ORPHA:168549
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Retinal Cone Dystrophy 3B
Macular atrophy, Cone/cone-rod dystrophy OMIM:610356
Combined Oxidative Phosphorylation Deficiency 59
Dicarboxylic aciduria, Failure to thrive, Retinal degeneration OMIM:620646
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Large for gestational age, N... OMIM:600501
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Retinal degeneration OMIM:616896
Mody
Nephropathy, Glycosuria, Intrauterine growth retardation, Obesity, Large for gestational age, Ret... ORPHA:552
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Optic atrophy, Rod-cone dystrophy, Retinal ... ORPHA:391428
Kleine-Levin Syndrome
Parosmia ORPHA:33543
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Short stature, Obesity, Disproportionate short stature, Truncal obesity OMIM:618363
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Momo Syndrome
Wide nasal base, Chorioretinal coloboma, Tall stature, Obesity, Large for gestational age, Overgr... ORPHA:2563
Subaortic Stenosis-Short Stature Syndrome
Short stature, Obesity, Anteverted nares ORPHA:3191
Momo Syndrome
Wide nasal bridge, Overgrowth, Obesity, Retinal coloboma OMIM:157980
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Absent outer dynein arms, Chronic rhinitis OMIM:244400
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Delayed puberty, Macular dystrophy, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... OMIM:120970
Nephronophthisis 11
Nephronophthisis, Stage 5 chronic kidney disease, Retinal degeneration, Renal corticomedullary cy... OMIM:613550
Multiple Sulfatase Deficiency
Short stature, Anteverted nares, Mucopolysacchariduria, Retinal degeneration OMIM:272200
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Hydronephrosis, Rod-cone dystrophy, Cystic renal dysplasia OMIM:615989
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Joubert Syndrome 8
Optic disc pallor, Obesity, Pigmentary retinopathy OMIM:612291
Xp22.13P22.2 Duplication Syndrome
Flared nostrils, Recurrent upper respiratory tract infections, Broad nasal tip, Truncal obesity, ... ORPHA:284180
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Intellectual Developmental Disorder, X-Linked 12
Microphallus, Truncal obesity, Increased body mass index, Short stature, Small for gestational age OMIM:300957
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Postnatal growth retardation, Obesity, Intrauterine growth retardation, P... ORPHA:439822
Holoprosencephaly
Optic atrophy, Choanal atresia, Depressed nasal ridge, Anosmia, Aplasia/Hypoplasia involving the ... ORPHA:2162
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Osteogenesis Imperfecta, Type Xxiii
Short stature, Truncal obesity OMIM:620639
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose ORPHA:284160
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Obesity, Delayed puberty, Rod-cone dystrophy, Short stature ORPHA:2235
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Campomelic Dysplasia
Short stature, Depressed nasal bridge, Hydronephrosis, Abnormality of the sense of smell ORPHA:140
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Short stature, Tall stature, Obesity OMIM:618089
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis, Chorioretinal coloboma, Retinal degeneration OMIM:610688
Man1B1-Cdg
Wide nasal bridge, Prominent nose, Underdeveloped nasolabial fold, Truncal obesity, Wide nose ORPHA:397941
Congenital Myopathy 9A
Short stature, Obesity OMIM:618822
Kufor-Rakeb Syndrome
Anosmia, Hyposmia OMIM:606693
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Bulbous nose, Obesity, Hydronephrosis OMIM:620511
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Obesity, Prominent nasal bridge, Retinopathy, Proportionate short stature, ... OMIM:619269
Luscan-Lumish Syndrome
Short stature, Long nose, Obesity, Overgrowth OMIM:616831
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Delayed puberty, Total anosmia, Micropenis, Short stature, Growth delay ORPHA:2326
Narcolepsy Type 1
Obesity, Nocturia ORPHA:2073
48,Xxyy Syndrome
Tall stature, Obesity, Azoospermia, Hypoplasia of penis ORPHA:10
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Short stature, Micropenis OMIM:615547
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Depressed nasal bridge, Obesity, Anteverted nares, Underdeveloped nasal alae OMIM:608624
Desbuquois Dysplasia 1
Severe short stature, Depressed nasal bridge, Disproportionate short-limb short stature, Intraute... OMIM:251450
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Intrauterine growth retardation, Renal insufficiency, Retinal degen... ORPHA:96179
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Spastic/hyperactive bladder, Weight loss, H... ORPHA:411602
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Radio-Tartaglia Syndrome
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Obesity, Anteverted nares, Prominent nas... OMIM:619312
Ring Chromosome Y Syndrome
Obesity, Azoospermia, Urogenital sinus anomaly, Short stature, Perineal hypospadias, Hypospadias ORPHA:261529
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Heparan sulfate excretion in urine, A... OMIM:607014
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Hypospadias, Intrauterine growth retardation, Obesity, Prominent nasal bridge,... ORPHA:251071
Xq21 Microdeletion Syndrome
Optic atrophy, Reticular pigmentary degeneration, Postnatal growth retardation, Obesity, Renal ar... ORPHA:1435
Werner Syndrome
Short stature, Convex nasal ridge, Retinal degeneration OMIM:277700
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Overgrowth, Obesity, Short nose OMIM:620250
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Short stature, Obesity ORPHA:3077
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Multicystic kidney dysplasia, Broad columella, Underdeveloped nasal alae,... ORPHA:1001
Achondroplasia
Depressed nasal bridge, Rhizomelia, Disproportionate short stature, Obesity, Anteverted nares, Sh... ORPHA:15
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Abnormality of the sense of smell ORPHA:958
Bardet-Biedl Syndrome
Chronic kidney disease, Depressed nasal bridge, Horseshoe kidney, Obesity, Prominent nasal bridge... ORPHA:110
Shox-Related Short Stature
Short stature, Obesity ORPHA:314795
Pseudohypoparathyroidism, Type Ic
Short stature, Depressed nasal bridge, Obesity, Low urinary cyclic AMP response to PTH administra... OMIM:612462
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Prominent nose, Severe postnatal growth retardation, Severe intrauterine growth retardat... ORPHA:319675
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology OMIM:605808
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Marbach-Schaaf Neurodevelopmental Syndrome
Enuresis nocturna, Depressed nasal bridge, Obesity, Broad nasal tip OMIM:619680
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Micropenis, Bulbous nose, Broad nasal tip, Truncal obesity ORPHA:3041
Cohen Syndrome
Optic atrophy, Failure to thrive in infancy, Intrauterine growth retardation, Obesity, Prominent ... ORPHA:193
Pseudohypoparathyroidism, Type Ia
Short stature, Depressed nasal bridge, Obesity, Low urinary cyclic AMP response to PTH administra... OMIM:103580
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Hypospadias, Abnormal nasal morphology, Truncal obesity ORPHA:3224
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Vesicoureteral reflux, Hydronephrosis, Micropenis, Pelvic kidney, Hyposmia OMIM:618653
White-Sutton Syndrome
Depressed nasal bridge, Broad nasal tip, Failure to thrive, Intrauterine growth retardation, Obes... OMIM:616364
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Short stature, Optic atrophy, Obesity, Depressed nasal bridge OMIM:618493
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Hypospadias, Obesity, Renal insufficiency OMIM:194072
Kniest Dysplasia
Depressed nasal bridge, Disproportionate short stature, Vitreoretinopathy, Keratan sulfate excret... ORPHA:485
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Anteverted nares, Obesity, Renal insufficiency, Vesicoureteral reflux, Hypopla... ORPHA:96147
Chops Syndrome
Optic atrophy, Horseshoe kidney, Obesity, Anteverted nares, Vesicoureteral reflux, Short stature,... OMIM:616368
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Obesity, Narrow nasal bridge, Anteverted nares, Hypospadias ORPHA:254346
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Monosomy 13Q34
Epistaxis, Broad nasal tip, Obesity, Prominent nose, Prominent nasal bridge, Growth delay ORPHA:96168
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Broad nasal tip, Disproportionate short-limb short s... OMIM:616541
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Obesity, Recurrent upper respiratory tract ... ORPHA:66628
Aceruloplasminemia
Retinal degeneration OMIM:604290
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Narrow nose, Mild po... ORPHA:90324
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Obesity, Short columella, Proportionate short stature ORPHA:404443
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight, Orthostatic hypotension, Retinal degeneration ORPHA:2822
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Carpenter Syndrome 1
Optic atrophy, Depressed nasal bridge, Hydroureter, Obesity, Hydronephrosis, Short stature OMIM:201000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Postnatal... OMIM:608940
Young-Onset Parkinson Disease
Abnormal autonomic nervous system physiology, Hyposmia ORPHA:2828
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Intrauterine growth retardation, Chor... ORPHA:448237
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Obesity, Recurrent upper respiratory tract ... ORPHA:179494
Cockayne Syndrome
Postnatal growth retardation, Cachexia, Urinary incontinence, Nephrotic syndrome, Optic disc pall... ORPHA:191
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Hyposmia, Absent nares, Hypoplasia of penis, Single naris ORPHA:2250
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Failure to thrive, Obesity, Narrow nasal bridge, Abdominal obesit... ORPHA:398079
Mucolipidosis Iii Alpha/Beta
Short stature, Mucopolysacchariduria, Retinopathy, Retinal degeneration OMIM:252600
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypospadias, Anosmia, Micropenis, Delayed puberty OMIM:619718
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Depressed nasal bridge, Unilateral renal agenesis, Renal hypoplasia, Retinal coloboma, Bulbous no... OMIM:620654
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ketonuria, Failure to... ORPHA:79282
Waardenburg Syndrome, Type 2E
Anosmia, Hypopigmentation of the fundus, Ocular albinism OMIM:611584
Mannosidosis, Alpha B, Lysosomal
Depressed nasal ridge, Growth delay, Retinal degeneration OMIM:248500
Craniopharyngioma
Optic atrophy, Postnatal growth retardation, Obesity, Proportionate short stature, Papilledema, D... ORPHA:54595
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Wide nasal bridge, Intrauterine growth retardation, Decreased body weight, ... OMIM:270450
Meningioma
Obesity, Abnormality of the sense of smell, Papilledema, Urinary incontinence, Facial palsy ORPHA:2495
Kleefstra Syndrome
Obesity, Anteverted nares, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Renal cyst... ORPHA:261494
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Short stature, Obesity, Prominent nasal bridge, Anteverted nares OMIM:618443
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Obesity, Proteinuria, Papilledema, Rod-cone dystrophy, Micropenis OMIM:619471
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Severe short stature, Rhizomelia, Retinal thinning, Abnormality of retinal pigmentation, Cone/con... ORPHA:85167
Silver-Russell Syndrome
Failure to thrive in infancy, Postnatal growth retardation, Obesity, Intrauterine growth retardat... ORPHA:813
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Senior-Loken Syndrome 8
Nephronophthisis, Stage 5 chronic kidney disease, Global glomerulosclerosis, Rod-cone dystrophy, ... OMIM:616307
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Enuresis, Decreased body weight ORPHA:589821
48,Xxxy Syndrome
Depressed nasal ridge, Tall stature, Obesity, Azoospermia, Hypoplasia of penis ORPHA:96263
X-Linked Intellectual Disability, Cabezas Type
Obesity, Prominent nose, Cachexia, Short stature, Hypoplasia of penis ORPHA:85293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Pseudoxanthoma Elasticum
Choroidal neovascularization, Macular degeneration, Angioid streaks of the fundus, Retinal peau d... OMIM:264800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Aganglionic me... OMIM:609136
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491
Superficial Siderosis
Anosmia, Partial anosmia, Functional abnormality of the bladder, Abnormality of the vestibulococh... ORPHA:247245
Choroidal Atrophy-Alopecia Syndrome
Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation ORPHA:1433
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Obesity, Truncal obesit... ORPHA:466950
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Increased urinary cortisol level, Abdominal obesity OMIM:615954