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Gene: Frmd5 MGI:2442557

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Gene Summary

Name:
FERM domain containing 5
Synonyms:
1500032A09Rik,  A930004K21Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
female infertility Frmd5tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal lens morphology Frmd5tm1b(EUCOMM)Hmgu HOM Early adult 4.78×10-06
increased body weight Frmd5tm1a(EUCOMM)Hmgu HOM Early adult 5.81×10-05
hyperactivity Frmd5tm1b(EUCOMM)Hmgu HOM Early adult 6.46×10-05
increased bone mineral content Frmd5tm1a(EUCOMM)Hmgu HOM   Early adult 5.45×10-05
increased total body fat amount Frmd5tm1a(EUCOMM)Hmgu HOM Early adult 2.24×10-05
preweaning lethality, incomplete penetrance Frmd5tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased prepulse inhibition Frmd5tm1a(EUCOMM)Hmgu HOM   Early adult 2.53×10-08
decreased grip strength Frmd5tm1a(EUCOMM)Hmgu HOM   Early adult 2.05×10-05
abnormal eye morphology Frmd5tm1a(EUCOMM)Hmgu HOM   Early adult 1.11×10-05
increased startle reflex Frmd5tm1a(EUCOMM)Hmgu HOM Early adult 2.38×10-06
abnormal retina pigmentation Frmd5tm1a(EUCOMM)Hmgu HOM   Early adult 1.90×10-05
increased lean body mass Frmd5tm1a(EUCOMM)Hmgu HOM Early adult 4.61×10-05

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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.

Electrocardiogram (ECG)

Waveform Image

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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Human diseases caused by Frmd5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Frmd5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Dystonia OMIM:620094

The table below shows human diseases predicted to be associated to Frmd5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Schizophrenia 15
Hyperactivity OMIM:613950
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... OMIM:615990
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Bardet-Biedl Syndrome 11
Retinopathy, Obesity OMIM:615988
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Generalized dystonia, Optic disc pallor OMIM:619389
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615995
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Small for gestational age, Retinal degeneration OMIM:275400
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615987
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Ramon Syndrome
Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Failure to thrive, Osteol... ORPHA:3019
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Obesity... ORPHA:791
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Obesity OMIM:615983
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
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
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Dystonia OMIM:264470
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Small for gestational age, Retinal degeneration ORPHA:3363
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Spinocerebellar Ataxia 7
Tremor, Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy, Obesity OMIM:245800
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Abnormality of bone mineral density ORPHA:3156
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... OMIM:613464
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Inguinal hernia, Macular coloboma, Chorioretinal coloboma, U... ORPHA:2196
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:600151
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Intention tremor OMIM:266130
Cofs Syndrome
Arthrogryposis multiplex congenita, Optic atrophy, Abnormality of retinal pigmentation, Camptodac... ORPHA:1466
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Failure to thrive, Osteoporosis OMIM:618234
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... ORPHA:816
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Overweight, ... OMIM:617406
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Abnormality of retinal pigmentation, Obesity ORPHA:3085
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor OMIM:614307
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Juvenile Paget Disease
Abnormality of retinal pigmentation, Cranial hyperostosis, Optic atrophy, Osteoporosis, Melanocyt... ORPHA:2801
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Multiple joint contractures, Abnormality of connective tissue, Fatigable ... ORPHA:370968
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone dystrophy, Retinal de... OMIM:615986
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Bardet-Biedl Syndrome 22
Rod-cone dystrophy, Macular hypopigmentation, Obesity, Large for gestational age OMIM:617119
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels OMIM:204000
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Failure to thrive in infancy ORPHA:858
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:605231
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Increased adipose tissue, Obesity, Red hair, Failure to thrive, Chi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Increased adipose tissue, Obesity, Red hair, Failure to thrive, Chi... ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Weight loss, Opisthotonus, Pigmentary retinopathy, Rod-c... ORPHA:216866
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Flexion contracture, Optic atrophy, Dystonia OMIM:252011
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Chromosome Xq21 Deletion Syndrome
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration OMIM:303110
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina, Hand tremor ORPHA:100996
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes... ORPHA:1873
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Fa... ORPHA:5
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Oculopharyngodistal Myopathy 3
Tremor, Pigmentary retinopathy OMIM:619473
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Limb joint contracture, Optic atrophy, Blepharospasm, Athetosis, Pigmentary re... OMIM:617282
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Obesity, Retinal degeneration OMIM:615982
Birt-Hogg-Dubé Syndrome
Multiple lipomas, Abnormality of retinal pigmentation ORPHA:122
Leigh Syndrome
Pigmentary retinopathy, Failure to thrive, Optic atrophy, Dystonia OMIM:256000
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy, Joint contracture of ... OMIM:609033
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Failur... OMIM:560000
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Canavan Disease
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy ORPHA:141
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Fatigable weakness of respiratory muscles, Pigmentary retinopathy ORPHA:329336
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Obesity, Reduced bone mineral density, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Obesity And Hypopigmentation
Red hair, Overgrowth, Obesity OMIM:620195
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Distal arthrogryposis, Retinal fold, Congenital finger flexi... OMIM:108145
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:616562
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Obesity, Retinal degeneration OMIM:615981
Ataxia With Vitamin E Deficiency
Tremor, Abnormality of retinal pigmentation, Dystonia ORPHA:96
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Rod-c... OMIM:615994
Werner Syndrome
Abnormality of retinal pigmentation, Increased bone mineral density, Lipoatrophy, Lipodystrophy, ... ORPHA:902
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Desmoid Tumor
Abnormality of retinal pigmentation, Osteolysis ORPHA:873
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis ORPHA:88643
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation, Camptodactyly of finger ORPHA:2521
Mulibrey Nanism
Pigmentary retinopathy, Enamel hypoplasia, Thickened cortex of long bones OMIM:253250
Senior-Loken Syndrome 9
Osteopenia, Retinal dystrophy, Obesity, Macular degeneration, Rod-cone dystrophy OMIM:616629
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Flexion contracture OMIM:618201
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cafe-au-lait spot, Increased body weight, Hand tremor ORPHA:589905
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Pigmentary retinopathy, Weight loss ORPHA:3208
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy, Obesity OMIM:612291
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Pantothenate Kinase-Associated Neurodegeneration
Osteopenia, Dystonia, Bull's eye maculopathy, Rod-cone dystrophy, Optic atrophy, Leg dystonia, Ch... ORPHA:157850
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Flexion contracture of finger, Truncal titubation, Pigme... ORPHA:88628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Flexion contracture OMIM:613156
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Obesity OMIM:615985
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... OMIM:216550
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight OMIM:614450
Cln3 Disease
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy ORPHA:228346
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Optic atrophy, Obesity OMIM:614651
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig... ORPHA:2715
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Increased body weight ORPHA:276608
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma, Obesity OMIM:601794
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling, Rickets OMIM:219900
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Tremor, Blepharospasm, Macular degeneration, Dy... ORPHA:48818
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Retinal coloboma, Obesity ORPHA:363741
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Craniosynostosis ORPHA:1496
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Exaggerated startle response, Failure to thrive, Optic atrophy OMIM:616881
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Dystonia OMIM:614105
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rickets, Rod-cone dyst... OMIM:268315
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Small for gestational age, Limb joint contracture, Ac... ORPHA:404454
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Increased body weight, Dorsocervical fat pad OMIM:615830
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... ORPHA:1493
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy OMIM:609541
Bardet-Biedl Syndrome
Pigmentary retinopathy, Obesity ORPHA:110
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Camptodactyly... OMIM:214110
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
47,Xyy Syndrome
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Atten... ORPHA:8
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy ORPHA:320406
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Failure to thrive OMIM:600462
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Fatigable weakness of swallowing muscles, Failure to thrive, Optic atrophy ORPHA:436271
Lowry-Wood Syndrome
Elbow flexion contracture, Pigmentary retinopathy, Small for gestational age OMIM:226960
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Small for gestational age, Increased body weight OMIM:274300
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Overgrowth OMIM:300607
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Optic... ORPHA:193
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Alstrom Syndrome
Cone/cone-rod dystrophy, Truncal obesity, Hyperostosis frontalis interna, Pigmentary retinopathy OMIM:203800
Wolfram Syndrome 1
Tremor, Pigmentary retinopathy, Optic atrophy OMIM:222300
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Tremor, Optic disc pallor, Pigmentary retinopathy, Lipoma ORPHA:502423
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Osteoporosis, Optic atrophy, Disproporti... ORPHA:394
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Cockayne Syndrome Type 1
Foot joint contracture, Scarring, Hypermelanotic macule, Tremor, Optic atrophy, Pigmentary retino... ORPHA:90321
Myopathy, Mitochondrial, And Ataxia
Tremor, Multiple lipomas, Pigmentary retinopathy OMIM:617675
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Osteoporosis, Increased body weight OMIM:615954
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Craniosynostosis ORPHA:2163
Abcd Syndrome
White eyelashes, White eyebrow, Albinism, Large for gestational age, Hypopigmentation of the fundus OMIM:600501
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Failure to thrive, Small for gestational age OMIM:609015
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Pigmentary retinopathy ORPHA:79095
Histidinemia
Hyperactivity ORPHA:2157
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock, Reduced bone mineral density ORPHA:742
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia OMIM:617864
Usher Syndrome
Abnormality of retinal pigmentation, Vestibular areflexia, Abnormal dental enamel morphology ORPHA:886
Mucopolysaccharidosis, Type Ii
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Flexion contracture, Umbilical... OMIM:309900
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... OMIM:209900
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Brushfield spots, Rod-cone dystrophy, Optic nerve dysplasia, Optic atr... OMIM:614866
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Pigmentary retinopathy OMIM:612582
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Cachexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge... ORPHA:1969
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Optic atrophy, Abnormality of retinal pigmentation ORPHA:192
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma ORPHA:2510
Smith-Magenis Syndrome
Retinal detachment, Increased body weight OMIM:182290
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Tremor, Retinal pigment ep... OMIM:216400
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tremor, Hypophosphatemic rickets, Increased body weight, Large for gestational age ORPHA:263455
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:309246
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Small for gestational age, Tremor, Osteoporosis, Optic atrop... OMIM:133540
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Abnormality of retinal pigmentation, Optic disc pallor, Reti... ORPHA:191
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Decreased body weight ORPHA:96180
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Failure to thrive, Optic atrophy OMIM:220110
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Epiphyseal stippling, Pigmentary retinopathy, Failure to thrive OMIM:214100
Trisomy 18
Omphalocele, Abnormality of retinal pigmentation, Camptodactyly of finger, Congenital diaphragmat... ORPHA:3380
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Lipo... ORPHA:79474
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Optic disc coloboma, Opti... ORPHA:50
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy ORPHA:585
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Spotty hypopigmentation, Increased body weight OMIM:300860
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Op... OMIM:617301
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Inguinal hernia, Flexion contracture, Optic atrophy, Reduced bone mine... ORPHA:581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Flexion contracture, Optic atrophy, Retinal dysplasia OMIM:613154
Abetalipoproteinemia
Osteopenia, Abnormality of retinal pigmentation, Failure to thrive, Rod-cone dystrophy, Hypopigme... ORPHA:14
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Tremor, Tongue tremor, Joint contracture of the hand, Congen... ORPHA:466768
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Failure to thrive in infancy ORPHA:746
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Failure to thrive, Abnormal b... ORPHA:175
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Failure to thrive ORPHA:71212
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Pigmentary retinopathy, Failure to thrive OMIM:277400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Enamel hypoplasia, Pigmentary retinopathy, Vitiligo OMIM:240300
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Wrist flexion contracture, Retinal pigment epithelial mottling, Knee flexi... OMIM:618733
Mucopolysaccharidosis Type 2
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Abnormal foveal morphology, Op... ORPHA:580
Insulinoma
Tremor, Increased body weight ORPHA:97279
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Abnorm... ORPHA:744
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Abnormal dental enamel morphology, Congen... ORPHA:2556
Stiff-Person Syndrome
Vitiligo, Exaggerated startle response, Opisthotonus OMIM:184850
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Tremor, Large clumps of pigment ir... ORPHA:167
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Optic atrophy, Pigmentary retinopathy, Dystonia, Rod-cone dystrophy ORPHA:255210
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Contractures of the large joints, Dystonia, Failure ... ORPHA:521426
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Fai... ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Flexion contracture, Optic atrophy, Retinal dys... OMIM:253800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy, Hernia ORPHA:505248
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... ORPHA:636
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Flexion contracture, Osteoporosis, Increased body weight, A... ORPHA:398069
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Failure to thrive, Rickets ORPHA:411629
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy, Joint contracture, Failure to thrive, Corneal scarring OMIM:618460
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Pigmentary retinopathy OMIM:610651
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Melas
Pigmentary retinopathy, Failure to thrive, Optic atrophy, Vitiligo ORPHA:550
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response, Failure to thrive, Optic atrophy OMIM:617527
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Neurodegeneration With Brain Iron Accumulation 1
Hyperpigmentation of the skin, Tremor, Optic atrophy, Blepharospasm, Choreoathetosis, Pigmentary ... OMIM:234200
Cystinosis, Nephropathic
Hypopigmentation of hair, Failure to thrive in infancy, Retinopathy, Retinal pigment epithelial m... OMIM:219800
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Camptodactyly OMIM:614230
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnor... ORPHA:217085
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Weight loss OMIM:607459
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnor... ORPHA:217093
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Osteoporosis, Increased body weight, Dorsocervical fat pad ORPHA:189427
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia OMIM:615574
Tay-Sachs Disease
Exaggerated startle response, Tremor, Optic atrophy, Dystonia, Cherry red spot of the macula, Lar... ORPHA:845
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response, Abnormal odontoid tissue morphology,... ORPHA:79255
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, We... ORPHA:91500
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Decreased body weight OMIM:266270
Joubert Syndrome 39
Overweight, Retinal dystrophy, Joint contracture of the 5th finger OMIM:619562
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature OMIM:117550
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Reduced subcutaneous adipose tissue, Lipoatrophy, Camptodactyly of finger, Increased ... ORPHA:3455
Sandhoff Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Inguinal hernia, Enamel hypoplasia OMIM:272460
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Cushing Disease
Dorsocervical fat pad, Fatiguable weakness of proximal limb muscles, Osteoporosis, Increased body... ORPHA:96253
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Osteoporosis, Increased body weight ORPHA:264580
Hardikar Syndrome
Umbilical hernia, Failure to thrive, Osteoporosis, Pigmentary retinopathy OMIM:301068
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis, Increased body weight ORPHA:79240
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, At... ORPHA:99226
Nijmegen Breakage Syndrome
Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo OMIM:251260
Pearson Syndrome
Pigmentary retinopathy, Cafe-au-lait spot, Small for gestational age, Hyperpigmentation of the skin ORPHA:699
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Congenital diaphragmatic hernia OMIM:309801
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Alagille Syndrome 1
Pigmentary retinopathy, Failure to thrive, Chorioretinal atrophy OMIM:118450
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Optic disc pallor, Exaggerated startle response, Osteoporosis, Dystonia, Uterine prol... ORPHA:438213
Cushing Syndrome Due To Ectopic Acth Secretion
Dorsocervical fat pad, Fatiguable weakness of proximal limb muscles, Osteoporosis, Increased body... ORPHA:99889
Hellp Syndrome
Increased body weight ORPHA:244242
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Carney Complex
Dorsocervical fat pad, Increased body weight, Abdominal obesity, Multiple lentigines, Multiple ca... ORPHA:1359
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Dystonia OMIM:620094

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 Frmd5

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 Frmd5.

No publications found that use IMPC mice or data for Frmd5.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Frmd5tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Frmd5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Frmd5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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