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Gene: Tmem161b MGI:1919995

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Gene Summary

Name:
transmembrane protein 161B
Synonyms:
2810446P07Rik

Order Alleles

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
preweaning lethality, complete penetrance Tmem161btm2b(EUCOMM)Hmgu HOM   Early adult 0.00
increased total body fat amount Tmem161btm2b(EUCOMM)Hmgu HET Early adult 3.81×10-08
decreased circulating total protein level Tmem161btm2b(EUCOMM)Hmgu HET Early adult 1.67×10-05
decreased circulating serum albumin level Tmem161btm2b(EUCOMM)Hmgu HET Early adult 3.44×10-05
decreased lean body mass Tmem161btm2b(EUCOMM)Hmgu HET Early adult 5.05×10-05
decreased bone mineral content Tmem161btm2b(EUCOMM)Hmgu HET Early adult 7.81×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

63 Images

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Adult LacZ

LacZ Images Wholemount

21 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

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Download thumbnail Download
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

1 Images

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Human diseases caused by Tmem161b 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 Tmem161b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Obesity ORPHA:88643
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Diarrhea 13
Hypoalbuminemia, Failure to thrive OMIM:620357
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to... OMIM:613752
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... OMIM:619868
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cerebral atrophy, Abnormality of retinal pigmentation, Cerebellar hypoplasia, Micro... OMIM:251270
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Microcephaly, Bone spicule pigmentatio... OMIM:618889
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Osteoporosis, Hypop... ORPHA:398063
Genitourinary And/Or Brain Malformation Syndrome
Chiari malformation, Polymicrogyria, Secondary microcephaly, Micrognathia, Absent septum pellucid... OMIM:618820
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Retinal pigment epithelial mottling, Eye of the tiger anomaly of globus palli... OMIM:619389
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy ORPHA:1178
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia ORPHA:2494
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cerebellar hypoplasia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Retinopathy OMIM:610951
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Cofs Syndrome
Wide nasal bridge, Cerebral cortical atrophy, Optic atrophy, Cerebral calcification, Micrognathia... ORPHA:1466
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Microcephaly, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Periostosis OMIM:614441
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... ORPHA:247585
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased circulating ferritin con... OMIM:603553
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Micrognathia, Abnormality of retinal pigmentation, Microcephaly, Mandibular prognathia ORPHA:2521
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Turricephaly, Agenesis of corpus callosum, Microcephaly, Cra... ORPHA:1496
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia OMIM:608093
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Failure to thrive, Increased circulating f... OMIM:616050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hyperammonemia, Hypocalcemia, Elevated circ... ORPHA:26793
Multiple Mitochondrial Dysfunctions Syndrome 5
Pachygyria, Microcephaly, Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Failure to thrive ORPHA:79320
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Ring Chromosome 14 Syndrome
Microcephaly, Pigmentary retinopathy, Dolichocephaly, Flat occiput OMIM:616606
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Microcephaly, Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hy... ORPHA:506353
Dengue Fever
Hypoproteinemia ORPHA:99828
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Attenuation of retinal blood vessels, Malar flattening, Bone spicule pigment... OMIM:616108
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Lateral ventricle dilatation, Abnormal dentate nucleus morph... OMIM:619517
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Leber Congenital Amaurosis 2
Cerebellar vermis hypoplasia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundu... OMIM:204100
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Wide nasal bridge, Optic atrophy, Cerebral cortical atrophy, Abnormality of retinal pigmentation,... ORPHA:2518
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin... OMIM:242150
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy, Failure to thrive OMIM:608776
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Microcephaly, Pigmentary retinopathy, Frontal bossing, Retinal degeneration ORPHA:3363
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Peroxisomal Acyl-Coa Oxidase Deficiency
Wide nasal bridge, Optic atrophy, Pigmentary retinopathy, Brachycephaly, Rod-cone dystrophy, Fron... OMIM:264470
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Johanson-Blizzard Syndrome
Hypoproteinemia, Failure to thrive ORPHA:2315
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypoproteinemia, Hypocalcemia OMIM:235255
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Omenn Syndrome
Hypoproteinemia, Failure to thrive OMIM:603554
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly, Failure to thrive OMIM:608104
Sjögren-Larsson Syndrome
Macular degeneration, Abnormal dental enamel morphology, Generalized hyperpigmentation, Abnormali... ORPHA:816
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Mpi-Cdg
Hypoalbuminemia, Failure to thrive ORPHA:79319
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia ORPHA:2070
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Retinal pigment epithelial mottling, Atte... OMIM:217080
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:615895
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Pigmentary retinopathy, Abnormal periven... ORPHA:370968
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Retrognathia, Malar flattening, Abnormality of retinal pigmentation, Heterochromia... ORPHA:1390
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Hypoproteinemia, Hypocalcemia ORPHA:1655
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive OMIM:226990
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent... ORPHA:88618
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Hypoplasia of the corpus callosum, Abnormality of retinal pigmentation, C... ORPHA:397951
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Jalili Syndrome
Optic atrophy, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenes... ORPHA:1873
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Joubert Syndrome 3
Wide nasal bridge, Cerebellar vermis hypoplasia, Pigmentary retinopathy, Lateral ventricle dilata... OMIM:608629
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Neonatal Adrenoleukodystrophy
Wide nasal bridge, Optic atrophy, Abnormality of retinal pigmentation, Macrocephaly, Dolichocephaly ORPHA:44
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Eem Syndrome
Carious teeth, Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Failure to thrive OMIM:602579
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Small for gestational age OMIM:617021
Generalized Pustular Psoriasis
Hypoalbuminemia, Obesity, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive protein con... ORPHA:247353
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Olivopontocerebellar atrophy OMIM:164500
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Flexion contracture, Failure to thrive ORPHA:367
Xfe Progeroid Syndrome
Hypoalbuminemia, Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Cachexia, Enam... OMIM:610965
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Micro Syndrome
Wide nasal bridge, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Optic atrophy, Aplasi... ORPHA:2510
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirub... OMIM:617093
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Aplasia Cutis-Myopia Syndrome
Calvarial skull defect, Abnormality of retinal pigmentation ORPHA:1117
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Leber Congenital Amaurosis
Abnormal optic disc morphology, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of retin... ORPHA:65
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia ORPHA:1667
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Lateral ventricle dilatation, Hypoplasia of the corpus callo... OMIM:614105
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... ORPHA:89842
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Heimler Syndrome 1
Amelogenesis imperfecta, Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia OMIM:234580
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Mulibrey Nanism
Wide nasal bridge, Pigmentary retinopathy, Dental malocclusion, Absent frontal sinuses, Enamel hy... OMIM:253250
Juvenile Paget Disease
Optic atrophy, Cranial hyperostosis, Melanocytic nevus, Abnormality of retinal pigmentation, Macr... ORPHA:2801
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Abnormal cerebellum morphology, Hypoplasia of the corpus callosum, Retina... ORPHA:100996
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Pigmentary retinopathy, Hypoplasia of th... OMIM:613156
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat ti... OMIM:212065
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Narp Syndrome
Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Ro... ORPHA:644
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Hypopigmented skin patches, Hypoplasia of the zygomatic bone, Malar prominence, Ab... ORPHA:2715
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Abnormal bone ossification... ORPHA:79324
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, Hyperca... ORPHA:29073
Vici Syndrome
Cerebral cortical atrophy, Optic atrophy, Hypopigmentation of the skin, Hypoplasia of the pons, A... ORPHA:1493
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Hypernatremia OMIM:615508
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Juvenile Polyposis Syndrome
Hypoalbuminemia, Failure to thrive, Hypokalemia OMIM:174900
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Osteoporosis, Weight loss, Failure to thrive OMIM:619487
Mucolipidosis Type Iv
Microcephaly, Abnormality of retinal pigmentation, Biparietal narrowing, Retinopathy ORPHA:578
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of retinal pigmentation ORPHA:3019
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Small for gestational age, Failure to thrive, Elevated circulating creatine kina... OMIM:619055
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-fetoprotein co... OMIM:251880
Waardenburg-Shah Syndrome
Wide nasal bridge, Abnormal macular morphology, Premature graying of hair, White forelock, Abnorm... ORPHA:897
Retinitis Pigmentosa 2
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... OMIM:312600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Hypoplasia of the pons, Lateral ventricle dilatation, Type... OMIM:613154
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con... OMIM:617156
Congenital Toxoplasmosis
Microcephaly, Cerebral calcification, Abnormality of retinal pigmentation ORPHA:858
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, Failure to thrive OMIM:618329
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem... ORPHA:36234
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Joubert Syndrome 28
Wide nasal bridge, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Neurocutaneous Melanocytosis
Chiari malformation, Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Ab... ORPHA:2481
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Failure to thrive, Atrophic scars, Scarring, Enamel hypoplasia, Craniosynostosis ORPHA:79396
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Carious teeth, Retinal pigment epithelial mottling, Hypoplasia of the corpus c... OMIM:617102
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Camptodactyly, Hiatus hernia, Failure to thrive OMIM:617729
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Abnormality of retinal pigmentation, Microcephaly, Brachycephaly, Craniosynostosis ORPHA:2163
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... ORPHA:14
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Umbilical hernia, Campt... OMIM:235510
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen OMIM:204000
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Flexion contracture OMIM:617303
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Slender build, Hypocalcemia, Inguinal he... OMIM:613658
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Weight loss ORPHA:67
Liver Disease, Severe Congenital
Failure to thrive, Increased circulating ferritin concentration, Umbilical hernia, Hyperbilirubin... OMIM:619991
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Cohen Syndrome
Optic atrophy, Hypoplasia of the maxilla, Macrodontia of permanent maxillary central incisor, Bul... OMIM:216550
Diprosopus
Anencephaly, Abnormality of retinal pigmentation ORPHA:1681
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, Decreased circulatin... ORPHA:37042
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Gaisböck Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,... ORPHA:90041
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Prominent occiput, Abnormality of retinal pigmentation ORPHA:1259
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration, Weight loss ORPHA:85443
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Focal T2 hyperintense basal ganglia... ORPHA:79264
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Hiatus hernia, Camptodactyly, Small for gestation... OMIM:251300
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Abnormality of retinal pigmentation ORPHA:1264
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Macrocephaly ORPHA:141
Zika Virus Disease
Congenital intracerebral calcification, Optic disc hypoplasia, Retinal pigment epithelial mottlin... ORPHA:448237
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Brachycephaly, Abnormality of retinal pigmentation ORPHA:1173
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Retinitis Pigmentosa 83
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... OMIM:618173
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Aicardi Syndrome
Optic atrophy, Plagiocephaly, Chorioretinal coloboma, Polymicrogyria, Optic disc coloboma, Abnorm... ORPHA:50
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Decreased body we... ORPHA:2298
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy, Cerebellar atrophy, Cerebral atrophy OMIM:268020
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Osteoporosis, Co... ORPHA:186
Pierson Syndrome
Hypoproteinemia OMIM:609049
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Wilson Disease
Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Osteomalacia, Hyperbilirubinemia, Increased cir... OMIM:277900
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Microcephaly, Pigmentary retinopathy OMIM:619059
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Leukoencephalopathy, Optic atrophy, Pigmentary retinopathy, Progressive leukoencephalopathy OMIM:252011
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... OMIM:605549
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Coffin-Lowry Syndrome
Cerebral cortical atrophy, Optic atrophy, Craniofacial hyperostosis, Hypoplasia of the maxilla, D... ORPHA:192
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Malar flattening, Agenesis of corpus callosum, Brachycephaly, Macrocephal... OMIM:612582
Retinitis Pigmentosa 51
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Juvenile Polyposis Syndrome
Rectocele, Multiple lipomas, Hypoproteinemia, Failure to thrive ORPHA:2929
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Oculopharyngodistal Myopathy 3
Leukoencephalopathy, Pigmentary retinopathy OMIM:619473
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Flexion contracture, Hernia ORPHA:505248
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Cachexia, Subcutaneous lipoma ORPHA:79076
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Microcephaly, Rod-co... OMIM:300578
Congenital Rubella Syndrome
Microcephaly, Abnormality of retinal pigmentation ORPHA:290
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Micrognathia, Aprosencephaly, Craniosynostosis, Retinal dysplasia, Poorly f... OMIM:601374
Primary Sclerosing Cholangitis
Hypoalbuminemia, Osteopenia, Weight loss, Osteoporosis ORPHA:171
Usher Syndrome
Cerebral cortical atrophy, Carious teeth, Abnormal dental enamel morphology, Abnormality of retin... ORPHA:886
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Basal ganglia calcification, Microceph... OMIM:610651
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:609033
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Scaphocephaly, Abnormality of retinal pigmentation, Papilledema, Macro... OMIM:309900
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy, Focal substantia nigra T2 hyperintensity OMIM:256000
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m... ORPHA:5
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Arthrogryposis, Distal, Type 5
Retinal fold, Abnormality of retinal pigmentation OMIM:108145
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcephaly, Pigmentary retinopathy, Micrognathia OMIM:600462
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Pigmentary retinopathy, Micrognathia, Microcephaly, Colpocephaly, F... OMIM:618460
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Retinal Dystrophy With Or Without Macular Staphyloma
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... OMIM:617547
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Lowry-Wood Syndrome
Microcephaly, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the corpus callosum ORPHA:1824
Choroidal Atrophy-Alopecia Syndrome
Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation ORPHA:1433
Trisomy 18
Microretrognathia, Chiari malformation, Aplasia/Hypoplasia of the corpus callosum, Prominent occi... ORPHA:3380
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... OMIM:120970
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Micrognathia, Optic nerve dysplasia, Turricephaly, Dolichocephaly, Brushf... OMIM:214110
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Eye of the tiger anomaly of globus... ORPHA:216866
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Multiple Sulfatase Deficiency
Microcephaly, Optic atrophy, Abnormality of retinal pigmentation, Macrocephaly ORPHA:585
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Osteomalacia, Weight loss, Elevated circulating C-reactive protein concentration... OMIM:619381
Microphthalmia With Linear Skin Defects Syndrome
Wide nasal bridge, Hypopigmented skin patches, Retrognathia, Abnormal dental enamel morphology, M... ORPHA:2556
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Epiphyseal stippling, Elevated circulati... OMIM:270400
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Cohen Syndrome
Optic atrophy, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Abnorma... ORPHA:193
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Mild microcephaly ORPHA:3208
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Carious teeth, Cerebellar atrophy, Retinal pigment epithel... OMIM:216400
Cockayne Syndrome
Carious teeth, Basal ganglia calcification, Cerebral calcification, Subcortical white matter calc... ORPHA:191
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Polymicrogyria, Cerebellar vermis atro... OMIM:614866
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypoplastic olfactory lobes, Cerebral cortical atrophy, Pigmentary retinopathy, Brachyturricephal... OMIM:214100
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Pigmentary retinopathy, Micrognathia, Cerebellar hypoplasia, Hyperintensity of cerebral white mat... ORPHA:502423
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Prolidase Deficiency
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, White forelock, Abnormality of ret... ORPHA:742
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Aceruloplasminemia
Macular degeneration, Abnormal corpus striatum morphology, Abnormality of retinal pigmentation, R... ORPHA:48818
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2331
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Bardet-Biedl Syndrome 17
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615994
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Carious teeth, Dental malocclusion, Cerebral atrophy, Basa... OMIM:133540
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Kearns-Sayre Syndrome
Basal ganglia calcification, Pigmentary retinopathy, Microcephaly OMIM:530000
Lowry-Wood Syndrome
Microcephaly, Pigmentary retinopathy OMIM:226960
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Failure to thrive, Increased circulating ferritin concentration, Ele... OMIM:619534
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Basal ganglia calcification, Hypoplasia of the primary tee... ORPHA:90321
Chromosome 8Q21.11 Deletion Syndrome
Wide nasal bridge, Pigmentary retinopathy, Micrognathia, Hypoplasia of the corpus callosum OMIM:614230
Cone-Rod Dystrophy 6
Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul... OMIM:601777
Nijmegen Breakage Syndrome
Progressive vitiligo, Retinal pigment epithelial mottling, Malar prominence, Micrognathia, Microc... OMIM:251260
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T... OMIM:619649
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling, Agenesis of corpus callosum OMIM:618733
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nasal bridge, Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of re... ORPHA:2526
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy ORPHA:88628
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:222300
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Abnormality of retinal pigmentation, Enamel hypoplasia, P... OMIM:272460
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Micrognathia, Mandibular prognathia OMIM:617675
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Eye of the tiger anomaly of globus pallidus, Pallidal dege... ORPHA:157850
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colp... OMIM:309801
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Leptospirosis
Hyperproteinemia ORPHA:509
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Periventricular leukomalacia, Abnormality of retinal pigmentation, Microcepha... ORPHA:466768
Mucopolysaccharidosis Type 2
Wide nasal bridge, Optic atrophy, Temporomandibular joint ankylosis, Retinopathy, Abnormality of ... ORPHA:580
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal corpus callosum morphology, Optic atrophy, Wide nasal bridge, Temporomandibular joint an... ORPHA:217093
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Enamel hypoplasia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy OMIM:240300
Werner Syndrome
White forelock, Abnormality of retinal pigmentation, Premature graying of hair ORPHA:902
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Cachexia ORPHA:75565
Melas
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebral white matter, Pigmentary retinopath... ORPHA:550
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Leukoencephalopathy, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, ... ORPHA:79282
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy, Progressive leukoencephalopathy ORPHA:436271
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Pigmentary retinopathy, Optic atrophy OMIM:617282
Mucopolysaccharidosis Type 2, Severe Form
Wide nasal bridge, Optic atrophy, Temporomandibular joint ankylosis, Retinopathy, Abnormality of ... ORPHA:217085
Pmm2-Cdg
Hypoalbuminemia, Osteopenia, Failure to thrive, Multiple joint contractures, Reduced thy