banner
Genes Phenotypes Help, News, Blog

Gene: Supt20 MGI:1929651

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SPT20 SAGA complex component
Synonyms:
p38 interacting protein,  D3Ertd300e,  Fam48a,  p38IP

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 Supt20 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Supt20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Retinal dysplasia OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Spina bifida, Chorioretinal degeneration OMIM:311000
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Joubert Syndrome 15
Retinopathy, Retinal dystrophy, Exencephaly OMIM:614464
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Diprosopus
Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe... OMIM:618889
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Meningocele, White hair, ... ORPHA:894
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Leber Congenital Amaurosis
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida, Melanocytic nevus ORPHA:1327
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Umbilical hernia, Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Spina bifida, Myelomeningocele, Blue irides, Pr... OMIM:193500
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Wildervanck Syndrome
Meningocele, Pseudopapilledema ORPHA:3456
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Amish Lethal Microcephaly
Optic atrophy, Spina bifida ORPHA:99742
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Humero-Radial Synostosis
Meningocele, Chorioretinal coloboma ORPHA:3265
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Short stature, Intrauterine growth retardation ORPHA:2515
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Oliver-Mcfarlane Syndrome
Central heterochromia, Severe short stature, Pigmentary retinopathy, Delayed puberty, Retinal deg... OMIM:275400
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Moderately short stature, Central retinal vessel vascular to... ORPHA:506353
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Cerebrocostomandibular Syndrome
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... ORPHA:1393
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Pigmentary retinopathy OMIM:617613
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Short stature OMIM:619090
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Short stature, Intrauterine growth retardation ORPHA:1466
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... ORPHA:63259
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Meningocele ORPHA:1759
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, S... OMIM:616108
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly ORPHA:588
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hydrocephalus, Intrauterine growth retardation ORPHA:858
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Hydrocephalus, Abnormal optic nerve morphology, Intrauterine g... ORPHA:3412
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Trisomy 18
Abnormality of retinal pigmentation, Short stature, Spina bifida, Anencephaly, Growth delay, Holo... ORPHA:3380
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Macular degene... ORPHA:816
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Growth delay, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Short stature, Spinal dysraphism OMIM:617660
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Optic atrophy, Hydrocephalus ORPHA:1914
Leber Congenital Amaurosis 1
Fundus atrophy, Optic disc drusen, Growth delay, Pigmentary retinopathy, Attenuation of retinal b... OMIM:204000
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Phakomatosis Pigmentokeratotica
Spina bifida, Melanocytic nevus ORPHA:2874
Ring Chromosome 14 Syndrome
Growth delay, Pigmentary retinopathy OMIM:616606
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Short stature ORPHA:3156
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Nail-Patella Syndrome
Short stature, Spina bifida, Lester's sign OMIM:161200
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Meningocele, Optic atrophy ORPHA:991
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... OMIM:600145
Joubert Syndrome 8
Occipital encephalocele, Pigmentary retinopathy, Optic disc pallor OMIM:612291
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism OMIM:612918
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Short stature, Spinal dysraphism OMIM:603546
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Narp Syndrome
Optic disc pallor, Short stature, Retinal arteriolar tortuosity, Retinal pigment epithelial mottl... ORPHA:644
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... ORPHA:2369
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Neurofibromatosis, Type I
Inguinal freckling, Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Axillary fre... OMIM:162200
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Focal Dermal Hypoplasia
Abnormality of skin pigmentation, Umbilical hernia, Spina bifida, Chorioretinal coloboma ORPHA:2092
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Aicardi Syndrome
Retinal detachment, Spina bifida, Postnatal growth retardation, Chorioretinal lacunae, Optic disc... OMIM:304050
Hallermann-Streiff Syndrome
Proportionate short stature, Optic disc coloboma, Spina bifida, Chorioretinal coloboma OMIM:234100
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Fibular Hemimelia
Spina bifida ORPHA:93323
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature, Chorioretinal coloboma ORPHA:2031
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Severe short stature, Short stature, Hydrocepha... OMIM:309900
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Bone spicule pigmentation of the retina, Opti... OMIM:609033
Joubert Syndrome 14
Encephalocele, Morning glory anomaly, Hydrocephalus, Meningocele, Optic atrophy, Growth delay OMIM:614424
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... ORPHA:573278
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Optic nerve hypoplasia, Spina bifida, Abnormal optic disc morphology, Retinal colo... ORPHA:508498
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, Abnormality of the spinocerebellar tracts ORPHA:329336
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy, Short stature OMIM:245800
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy, Short stature OMIM:252011
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:44
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Short stature, Intrauterine growth retardation ORPHA:290
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:3085
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Short stature, Retinal fold OMIM:108145
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Short stature, Melanocytic nevus ORPHA:2801
Jeune Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:474
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Fanconi Anemia
Short stature, Spina bifida, Hydrocephalus, Hypopigmented skin patches, Abnormality of skin pigme... ORPHA:84
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Neu-Laxova Syndrome 1
Spina bifida, Stillbirth, Neonatal death, Small placenta, Short umbilical cord, Hydranencephaly, ... OMIM:256520
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
22Q11.2 Deletion Syndrome
Short stature, Spina bifida, Retinal arteriolar tortuosity, Hydrocephalus, Meningocele, Optic atr... ORPHA:567
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Jacobsen Syndrome
Growth delay, Intrauterine growth retardation, Short stature, Spina bifida ORPHA:2308
Mulibrey Nanism
Growth delay, Pigmentary retinopathy, Short stature, Intrauterine growth retardation OMIM:253250
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Alg3-Cdg
Neural tube defect, Hypopigmentation of the skin ORPHA:79321
Koolen-De Vries Syndrome Due To A Point Mutation
Fair hair, Spina bifida, Postnatal growth retardation, Hydrocephalus, Optic atrophy, Dural ectasi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fair hair, Spina bifida, Postnatal growth retardation, Hydrocephalus, Optic atrophy, Dural ectasi... ORPHA:363958
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Short stature, Intrauterine growth retardation ORPHA:2518
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:1173
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... OMIM:617547
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Spina bifida, Postnatal growth retardation, Patent urachu... OMIM:192350
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Abnormality of retinal pigmentation ORPHA:1496
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Short stature, Holoprosencephaly ORPHA:2163
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Holoprosencephaly
Encephalocele, Hydrocephalus, Optic atrophy, Spinal cord tumor, Spinal dysraphism, Branchial anom... ORPHA:2162
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Severe short stature, Proportionate short stature, Intrauterine growth re... ORPHA:3208
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Short stature OMIM:619059
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida OMIM:619480
Thrombocytopenia-Absent Radius Syndrome
Syringomyelia, Short stature, Spina bifida OMIM:274000
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Pigmentary retinopathy OMIM:612582
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Rhizomelia, Disproportionate short-limb short stature, Spina... ORPHA:175
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat... OMIM:114290
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Short stature ORPHA:585
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Waardenburg Syndrome
Hypopigmentation of hair, Myelomeningocele, Hypopigmented skin patches, Abnormality of skin pigme... ORPHA:3440
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Lateral Meningocele Syndrome
Tethered cord, Short stature, Hydrocephalus, Meningocele, Dural ectasia, Syringomyelia, Umbilical... OMIM:130720
Cln3 Disease
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy ORPHA:228346
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Syringomyelia, Dural ectasia ORPHA:2789
Vici Syndrome
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Hypopigmentation of the skin, ... ORPHA:1493
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Micro Syndrome
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Retinal coloboma, Delayed pube... ORPHA:2510
Rubinstein-Taybi Syndrome 1
Short stature, Spina bifida, Postnatal growth retardation, Spina bifida occulta, Growth delay, Ca... OMIM:180849
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Short stature, Abnormal retinal vascular morphology, Optic a... ORPHA:2715
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal spi... ORPHA:88628
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy, Short stature OMIM:268020
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Chromosome Xp11.3 Deletion Syndrome
Short stature, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal ... OMIM:300578
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short stature, Bull's eye macul... OMIM:216550
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Retinal dystrophy, Short stature, Rhizomelic leg shortening, Subretinal ... ORPHA:397715
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Umbilical h... OMIM:304120
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Short stature OMIM:617102
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Knobloch Syndrome 1
Occipital encephalocele, Retinal detachment, Optic disc pallor, Chorioretinal atrophy, Iris trans... OMIM:267750
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Pigmentary retinopathy, Delayed puberty OMIM:600462
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Retinal coloboma OMIM:616546
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Short stature, Abn... ORPHA:580
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Short stature, Optic atrophy, Abnor... ORPHA:193
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Optic atrophy, Rod-con... OMIM:268315
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia, Intrauterine growth retardation OMIM:214110
Lowry-Wood Syndrome
Pigmentary retinopathy, Short stature, Intrauterine growth retardation OMIM:226960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Hydrocephalus, Optic atrophy, Retinal dysplasia OMIM:613154
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Atrophy of the spinal cord, Hydrocephalus, Optic atrophy, Growth delay, Pigment... ORPHA:79282
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Short stature, Postnatal growth retardation, Large placenta,... ORPHA:96334
Wolfram Syndrome 1
Growth delay, Pigmentary retinopathy, Optic atrophy OMIM:222300
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:1824
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock, Short stature ORPHA:902
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:192
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Short stature, Delayed puberty ORPHA:2235
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Short stature, Abnormal foveal morphology, Spin... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Short stature, Abnormal foveal morphology, Spin... ORPHA:217093
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Growth delay, Optic disc pallor, Short stature, Pigmentary retinopathy ORPHA:502423
Bardet-Biedl Syndrome
Pigmentary retinopathy, Short stature ORPHA:110
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Postnatal growth retardation, Optic atrophy, Pigmentary retinopathy, Rod-cone dyst... ORPHA:96180
Mucopolysaccharidosis Type 3
Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Umbilical hernia, Rod-cone dystrophy, Retin... ORPHA:581
Myopathy, Mitochondrial, And Ataxia
Growth delay, Pigmentary retinopathy, Short stature OMIM:617675
Kearns-Sayre Syndrome
Pigmentary retinopathy, Short stature OMIM:530000
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Severe short stature, Retinal dystrophy, Chorioretinal dyspl... ORPHA:2556
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Proportionate short stature, Intrauterine growth retardation ORPHA:71212
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Severe short stature, Retinal dystrophy,... ORPHA:2526
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy, Short stature OMIM:203800
Arima Syndrome
Retinal dystrophy, Optic atrophy, Growth delay, Chorioretinal coloboma, Occipital meningocele OMIM:243910
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Short stature, Melanocytic nevus, Multiple cafe-au-lait spot... ORPHA:1969
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Pigmentary retinopathy, Short stature OMIM:610651
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Cockayne Syndrome A
Retinal atrophy, Short stature, Retinal pigment epithelial mottling, Optic atrophy, Abnormality o... OMIM:216400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopathy, Intrauterine grow... OMIM:614866
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy ORPHA:505248
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Hydrocephalus,... ORPHA:636
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Atrophy of the spinal cord, Large ... ORPHA:167
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Sever... ORPHA:191
Cockayne Syndrome Type 1
Postnatal growth retardation, Pigmentary retinopathy, Optic atrophy, Hypermelanotic macule ORPHA:90321
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy, Tethered cord, Short stature, Intrauterine growth retardation OMIM:618460
Orofaciodigital Syndrome Vi
Occipital meningocele, Short stature OMIM:277170
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Hydrocephalus OMIM:277400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo OMIM:240300
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Optic disc pallor, Pigmentary retinopathy OMIM:214100
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Optic atrophy, Abnormality of skin pigmentati... OMIM:133540
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... ORPHA:744
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Pigmentary retinopathy OMIM:614230
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atrophy of the spinal cord, Abnormality of retinal pigmentation ORPHA:466768
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Hydrocephalus, Short stature OMIM:309801
Marfan Syndrome
Retinal detachment, Meningocele, Dural ectasia ORPHA:558
Melas
Pigmentary retinopathy, Optic atrophy, Short stature, Vitiligo ORPHA:550
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling OMIM:618733
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... OMIM:209900
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Nijmegen Breakage Syndrome
Short stature, Retinal pigment epithelial mottling, Progressive vitiligo, Intrauterine growth ret... OMIM:251260
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord OMIM:607459
Abetalipoproteinemia
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus ORPHA:14
Hardikar Syndrome
Growth delay, Umbilical hernia, Short stature, Pigmentary retinopathy OMIM:301068
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy ORPHA:404454
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Retinal pigment epithelial... OMIM:219800
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Disproportionate short-trunk short stature OMIM:272460
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Short stature, Patchy hypo- and hyperpigmentation, Premature... ORPHA:79474
Infantile Nephropathic Cystinosis
Growth delay, Pigmentary retinopathy ORPHA:411629
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... ORPHA:91500
Pearson Syndrome
Postnatal growth retardation, Growth delay, Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigme... ORPHA:699
Ramon Syndrome
Optic disc pallor, Short stature, Pigmentary retinopathy OMIM:266270
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Short stature, Hydrocephalus, Optic atrophy, Growth delay, Pigmentary reti... ORPHA:3455
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Hyperpigmentation of the skin, Retinal degeneration OMIM:234200
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature OMIM:276820
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy OMIM:606721

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 Supt20

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 Supt20.

No publications found that use IMPC mice or data for Supt20.

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.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter