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:
N/A

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 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
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration OMIM:311000
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Short stature, Bone spicule pigmentati... OMIM:618889
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Growth delay, Cervical spina bifida, Postnatal growth retardation OMIM:600122
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Caudal Duplication
Spina bifida, Myelomeningocele, Spinal cord lesion ORPHA:1756
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Chiari Malformation Type Ii
Spina bifida, Cervical myelopathy, Syringomyelia, Myelomeningocele, Hydrocephalus OMIM:207950
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Waardenburg Syndrome Type 1
Spina bifida, Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White ey... ORPHA:894
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma, Umbilical hernia ORPHA:2196
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Humero-Radial Synostosis
Meningocele, Chorioretinal coloboma ORPHA:3265
Wildervanck Syndrome
Meningocele, Pseudopapilledema ORPHA:3456
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida, Melanocytic nevus, Short stature ORPHA:1327
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Amish Lethal Microcephaly
Spina bifida, Optic atrophy ORPHA:99742
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Melanocytic nevus, Meningocele, Nume... ORPHA:2481
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Optic atrophy, Hydrocephalus ORPHA:588
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Thoraco-Abdominal Enteric Duplication
Meningocele, Diastomatomyelia ORPHA:1759
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Severe short stature, Retinal degeneration, Delaye... OMIM:275400
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Short stature ORPHA:2515
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Waardenburg Syndrome, Type 1
Spina bifida, Heterochromia iridis, Premature graying of hair, White eyebrow, Hypopigmentation of... OMIM:193500
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Pigmentary retinopathy OMIM:617613
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Short stature, Intrauterine growt... ORPHA:1908
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Diprosopus
Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Cofs Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:1466
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus, Optic atrophy ORPHA:1914
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Fountain Syndrome
Spina bifida, Short stature, Spina bifida occulta ORPHA:3219
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Ring Chromosome 14 Syndrome
Growth delay, Pigmentary retinopathy OMIM:616606
Pelvis-Shoulder Dysplasia
Spina bifida, Mesomelic/rhizomelic limb shortening, Retinal coloboma, Hydranencephaly, Short stat... ORPHA:2839
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Short stature OMIM:619090
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Short stature, Spina bifida occulta OMIM:613686
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Intrauterine growth retardation OMIM:603194
Subependymal Nodular Heterotopia
Meningocele, Myelomeningocele ORPHA:101030
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Congenital Toxoplasmosis
Intrauterine growth retardation, Abnormality of retinal pigmentation, Hydrocephalus ORPHA:858
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Cerebrocostomandibular Syndrome
Spina bifida, Meningocele, Hydranencephaly, Short stature, Intrauterine growth retardation, Myelo... ORPHA:1393
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Moderately short stature, Retinal pigment epithelial mottling, Central retinal vessel vascular to... ORPHA:506353
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Short stature, Generalized hyperpigmentation, Retinopathy, M... ORPHA:816
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Meckel Syndrome, Type 4
Meningocele, Hydrocephalus, Anencephaly, Intrauterine growth retardation OMIM:611134
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Iniencephaly
Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, Syringomyelia, Myelo... ORPHA:63259
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Abnormality of the optic nerve, Intrauterine ... ORPHA:3412
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Tethered cord OMIM:612918
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Hydromyelia, Lipomyelomeningocele, Hydroc... ORPHA:268810
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Short stature, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Chorioretinal coloboma, Short stature ORPHA:2031
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Leber Congenital Amaurosis 1
Growth delay, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus, Intrauterine growth retardation ORPHA:3376
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Short stature, Tethered cord OMIM:617660
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Trisomy 18
Spina bifida, Abnormality of retinal pigmentation, Holoprosencephaly, Growth delay, Anencephaly, ... ORPHA:3380
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Enlarged Parietal Foramina
Myelomeningocele ORPHA:60015
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Fundus atrophy OMIM:204100
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Short stature, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Cervical cord compression, Mild short stature, Papilledema, ... OMIM:309900
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Narp Syndrome
Retinal pigment epithelial mottling, Short stature, Retinal arteriolar tortuosity, Rod-cone dystr... ORPHA:644
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Nail-Patella Syndrome
Spina bifida, Short stature, Lester's sign OMIM:161200
Retinopathy, Pigmentary, And Mental Retardation
Moderately short stature, Pigmentary retinopathy OMIM:268050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Short stature OMIM:603546
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Spina bifida, Proportionate short stature OMIM:234100
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Heterochromia iridis, Premature grayi... ORPHA:3440
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Phaver Syndrome
Intrauterine growth retardation, Myelomeningocele ORPHA:2876
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Pagod Syndrome
Meningocele, Spina bifida, Optic atrophy, Short stature ORPHA:991
Neurofibromatosis, Type I
Spina bifida, Inguinal freckling, Aqueductal stenosis, Short stature, Multiple cafe-au-lait spots... OMIM:162200
Jeune Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:474
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Short stature OMIM:252011
Arnold-Chiari Malformation Type Ii
Aqueductal stenosis, Meningocele, Syringomyelia, Myelomeningocele, Hydrocephalus ORPHA:1136
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Dural ectasia, Syringomyelia, Short stature OMIM:130720
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Congenital Rubella Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Short stature ORPHA:290
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:3085
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly ORPHA:2211
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Laurence-Moon Syndrome
Pigmentary retinopathy, Short stature OMIM:245800
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Abnormality of retinal pigmentation, Short stature ORPHA:2163
Juvenile Paget Disease
Melanocytic nevus, Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:2801
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Lateral Meningocele Syndrome
Meningocele, Dural ectasia, Syringomyelia, Umbilical hernia ORPHA:2789
Fibular Hemimelia
Spina bifida ORPHA:93323
Posterior Column Ataxia With Retinitis Pigmentosa
Pigmentary retinopathy, Hyperintensity of MRI T2 signal of the spinal cord, Attenuation of retina... OMIM:609033
Aicardi Syndrome
Chorioretinal lacunae, Spina bifida, Postnatal growth retardation, Retinal detachment, Optic atrophy OMIM:304050
Focal Dermal Hypoplasia
Abnormality of skin pigmentation, Chorioretinal coloboma, Spina bifida, Umbilical hernia ORPHA:2092
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:44
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:2518
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormality of the spinocerebellar tracts, Pigmentary retinopathy ORPHA:329336
Limb Body Wall Complex
Spina bifida, Short umbilical cord, Anencephaly, Spina bifida occulta, Myelomeningocele, Hydrocep... ORPHA:2369
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Zika Virus Disease
Macular atrophy, Myelitis, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Re... ORPHA:448237
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Short stature OMIM:108145
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Sacral Defect With Anterior Meningocele
Meningocele OMIM:600145
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Mulibrey Nanism
Intrauterine growth retardation, Growth delay, Pigmentary retinopathy, Short stature OMIM:253250
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Aqueductal stenosis ORPHA:1496
15Q24 Microdeletion Syndrome
Myelomeningocele, Short stature, Postnatal growth retardation ORPHA:94065
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... OMIM:605549
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:1173
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Hydrocephalus, Short stature ORPHA:585
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Retinal coloboma, Optic nerve hypoplasia, Short stature, Abnormality of the optic disc ORPHA:508498
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Stillbirth, Hydranencephaly, Intrauterine growth retardation,... OMIM:256520
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Joubert Syndrome 1
Chorioretinal coloboma, Retinal dystrophy, Retinal dysplasia, Optic disc pallor, Occipital myelom... OMIM:213300
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Short stature OMIM:619059
Fanconi Anemia
Abnormality of skin pigmentation, Spina bifida, Irregular hyperpigmentation, Growth delay, Umbili... ORPHA:84
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Jacobsen Syndrome
Intrauterine growth retardation, Spina bifida, Short stature, Growth delay ORPHA:2308
22Q11.2 Deletion Syndrome
Spina bifida, Arrhinencephaly, Umbilical hernia, Meningocele, Short stature, Hypopigmented skin p... ORPHA:567
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretinal atrophy, Re... ORPHA:5
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Short stature, Optic atrophy, H... ORPHA:1493
Acromelic Frontonasal Dysplasia
Meningocele ORPHA:1827
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic arm shortening, Retinal dystrophy, Meningocele, Rhizomelic leg shortening, Short statu... ORPHA:397715
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Short stature OMIM:274000
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Isolated Succinate-Coq Reductase Deficiency
Intrauterine growth retardation, Pigmentary retinopathy, Severe short stature, Proportionate shor... ORPHA:3208
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Koolen-De Vries Syndrome Due To A Point Mutation
Vitiligo, Spina bifida, Postnatal growth retardation, Fair hair, Dural ectasia, Cafe-au-lait spot... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Vitiligo, Spina bifida, Postnatal growth retardation, Fair hair, Dural ectasia, Cafe-au-lait spot... ORPHA:363958
Trisomy 8Q
Myelomeningocele ORPHA:1752
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Micro Syndrome
Abnormality of retinal pigmentation, Retinal coloboma, Delayed puberty, Short stature, Intrauteri... ORPHA:2510
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Lathosterolosis
Meningocele, Intrauterine growth retardation ORPHA:46059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Holoprosencephaly
Chorioretinal coloboma, Branchial anomaly, Holoprosencephaly, Spinal dysraphism, Spinal cord tumo... ORPHA:2162
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Short stature, Hypopig... ORPHA:2715
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Split Cord Malformation
Cervical spina bifida, Spinal cord tumor, Hydromyelia, Meningocele, Hyperpigmentation of the skin... ORPHA:573278
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Rod-cone dystrophy, Pigmentary retinopathy, Short stature OMIM:268020
Phocomelia, Schinzel Type
Meningocele, Disproportionate short stature, Intrauterine growth retardation ORPHA:2879
Cartilage-Hair Hypoplasia
Rhizomelia, Abnormality of retinal pigmentation, Spinal dysraphism, Disproportionate short-limb s... ORPHA:175
Cohen Syndrome
Bull's eye maculopathy, Delayed puberty, Short stature, Optic atrophy, Bone spicule pigmentation ... OMIM:216550
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Hydrocephalus, Umbilical hernia OMIM:612582
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Non-Syndromic Anorectal Malformation
Myelomeningocele, Syringomyelia, Tethered cord ORPHA:557
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy OMIM:606721
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular hyper... OMIM:120970
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy, Abnormality ... ORPHA:88628
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Growth delay, Papilledema, Abnormal foveal morphology, Umbil... ORPHA:580
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... OMIM:600132
Vater/Vacterl Association
Spina bifida, Postnatal growth retardation, Patent urachus, Intrauterine growth retardation, Teth... OMIM:192350
Arima Syndrome
Chorioretinal coloboma, Retinal dystrophy, Occipital meningocele OMIM:243910
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrauterine growth retardation, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy OMIM:214110
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor ORPHA:216866
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Growth delay, Atrophy of the spinal cord, Retinal degeneration, Abnormali... ORPHA:79282
Cohen Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Delayed puberty, Short sta... ORPHA:193
Lowry-Wood Syndrome
Intrauterine growth retardation, Pigmentary retinopathy, Short stature OMIM:226960
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Blotching pigmentation of the... OMIM:560000
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:1824
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Delayed puberty, Pigmentary retinopathy, Short stature ORPHA:2235
Wolfram Syndrome 1
Growth delay, Optic atrophy, Pigmentary retinopathy OMIM:222300
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus ORPHA:90652
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:192
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Growth delay, Papilledema, Abnormal foveal morphology, Umbil... ORPHA:217085
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Vitreoretinopathy, Pigmentary retinopathy OMIM:268100
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Growth delay, Papilledema, Abnormal foveal morphology, Umbil... ORPHA:217093
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Short stature OMIM:311200
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Postnatal growth retardation, Short stature, Optic atrophy, Rod-cone dyst... ORPHA:96180
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, A... ORPHA:2556
Autosomal Dominant Cerebellar Ataxia
Long-tract signs, Macular degeneration, Pigmentary retinopathy, Retinal degeneration ORPHA:99
Aceruloplasminemia
Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration ORPHA:48818
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Growth delay, Optic disc pallor, Pigmentary retinopathy, Short stature ORPHA:502423
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Hydrocephalus, Umbilical hernia, Retinal degeneration, Optic atrophy, Rod... ORPHA:581
Marfan Syndrome
Meningocele, Dural ectasia, Retinal detachment ORPHA:558
Kearns-Sayre Syndrome
Pigmentary retinopathy, Short stature OMIM:530000
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Pigmentary retinopathy, Short stature OMIM:610651
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Short statur... ORPHA:1969
Myopathy, Mitochondrial, And Ataxia
Growth delay, Pigmentary retinopathy, Short stature OMIM:617675
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Pigmentary retinopathy, Proportionate short stature ORPHA:71212
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy, Hydrocephalus ORPHA:505248
Werner Syndrome
Abnormality of retinal pigmentation, White forelock, Short stature, Premature graying of hair ORPHA:902
Hardikar Syndrome
Chorioretinal degeneration, Growth delay, Mottled pigmentation, Pigmentary retinopathy OMIM:612726
Lathosterolosis
Growth delay, Myelomeningocele OMIM:607330
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Growth delay, Spinal dysraphism, Large placenta, Postnatal growth retardation, Short stature, Per... ORPHA:96334
Cockayne Syndrome A
Abnormality of skin pigmentation, Pigmentary retinopathy, Normal pressure hydrocephalus, Retinal ... OMIM:216400
Neurofibromatosis Type 1
Chorioretinal coloboma, Abnormality of retinal pigmentation, Freckling, Heterochromia iridis, Mel... ORPHA:636
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy, Short stature OMIM:203800
Bardet-Biedl Syndrome
Pigmentary retinopathy, Short stature ORPHA:110
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Pigmentary retinopathy OMIM:277400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Severe short stature, Retinal dystr... ORPHA:2526
Aicardi Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Op... ORPHA:50
Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Retinal flecks, Retinal degeneration, Optic atrophy, Bull's eye maculopat... ORPHA:157850
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Cockayne Syndrome
Abnormality of retinal pigmentation, Retinal atrophy, Pigmentary retinopathy, Growth delay, Postn... ORPHA:191
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clump... ORPHA:167
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Cockayne Syndrome B
Abnormality of skin pigmentation, Pigmentary retinopathy, Normal pressure hydrocephalus, Severe s... OMIM:133540
Cockayne Syndrome Type 1
Optic atrophy, Hypermelanotic macule, Pigmentary retinopathy, Postnatal growth retardation ORPHA:90321
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Hydrocephalus, Short stature OMIM:309801
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy OMIM:240300
Proteus Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Central heterochromia, Abnormality of r... ORPHA:744
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic disc pallor OMIM:214100
Focal Dermal Hypoplasia
Chorioretinal coloboma, Reticular hyperpigmentation, Umbilical hernia, Short stature, Spina bifid... OMIM:305600
Khan-Khan-Katsanis Syndrome
Intrauterine growth retardation, Pigmentary retinopathy, Short stature OMIM:618460
Oeis Complex
Myelomeningocele, Hydrocephalus, Tethered cord OMIM:258040
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Atrophy of the spinal cord ORPHA:466768
Melas
Vitiligo, Optic atrophy, Pigmentary retinopathy, Short stature ORPHA:550
Classic Homocystinuria
Abnormality of retinal pigmentation, Optic atrophy, Retinal detachment ORPHA:394
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling OMIM:618733
Abetalipoproteinemia
Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy ORPHA:14
Cystinosis, Nephropathic
Hypopigmentation of hair, Pigmentary retinopathy, Growth delay, Retinal pigment epithelial mottli... OMIM:219800
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Heterochromia irid... ORPHA:790
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus OMIM:219000
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:255210
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Pigmentary retinopathy ORPHA:404454
Semilobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Hydrocephalus, Short stature, Neural tube defect ORPHA:93924
Fraser Syndrome
Myelomeningocele, Umbilical hernia ORPHA:2052
Tibial Hemimelia
Myelomeningocele ORPHA:93322
Infantile Nephropathic Cystinosis
Growth delay, Pigmentary retinopathy ORPHA:411629
Pearson Syndrome
Pigmentary retinopathy, Growth delay, Postnatal growth retardation, Hyperpigmentation of the skin... ORPHA:699
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Short stature OMIM:266270
Spondylocarpotarsal Synostosis Syndrome
Disproportionate short-trunk short stature, Abnormality of retinal pigmentation OMIM:272460
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Premature graying of hair, Patchy hypo- and hyperpigmentatio... ORPHA:79474
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Disproportionate short stature, Occipital meningocele OMIM:276820
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Choroidal neovasculariza... ORPHA:91500
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Optic disc hypoplasia, Growth delay, Severe intrauterine growth retardati... ORPHA:3455
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Hyperpigmentation of the skin, Pigmentary retinopathy, Retinal degeneration OMIM:234200
Alagille Syndrome 1
Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450

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.

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