Gene Summary

Name:
major facilitator superfamily domain containing 2A
Synonyms:
1700018O18Rik,  Mfsd2

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal epididymis morphology Mfsd2atm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, incomplete penetrance Mfsd2atm1b(KOMP)Wtsi HOM   Early adult 0.00
enlarged epididymis Mfsd2atm1b(KOMP)Wtsi HET Early adult 0.00
enlarged testis Mfsd2atm1b(KOMP)Wtsi HET Early adult 0.00
abnormal testis morphology Mfsd2atm1b(KOMP)Wtsi HET Early adult 0.00
abnormal embryo size Mfsd2atm1b(KOMP)Wtsi HOM E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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
Brain  Section images heterozygote 25% (1 of 4)
Brainstem  Section images heterozygote 50% (2 of 4)
Cerebellum  Section images heterozygote 50% (2 of 4)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 75% (3 of 4)
Eye  Section images heterozygote 25% (1 of 4)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (4 of 4)
Liver  Section images heterozygote 75% (3 of 4)
Mammary gland  Section images heterozygote 25% (1 of 4)
Midbrain  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (4 of 4)
Stomach  Section images heterozygote 100% (4 of 4)
Sublingual gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 25% (1 of 4)
Tongue  Section images heterozygote 100% (4 of 4)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 50% (2 of 4)
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (2 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 25% (1 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 50% (2 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 50% (2 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A homozygote 0.0% (0 of 2)
Brain N/A homozygote 100% (2 of 2)
Central nervous system ganglion N/A homozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Gut N/A homozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Nose N/A homozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skeleton N/A homozygote 0.0% (0 of 2)
Skin N/A homozygote 100% (2 of 2)
Spinal cord N/A homozygote 100% (2 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)
Trachea N/A homozygote 0.0% (0 of 2)
Urinary system N/A homozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 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)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Adult LacZ

LacZ Images Section

62 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Mfsd2a 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 Mfsd2a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Spastic tetraparesis, Inability to walk, Spastic gait OMIM:616486
Autosomal Recessive Primary Microcephaly
ORPHA:2512

The table below shows human diseases predicted to be associated to Mfsd2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Cryptorchidism OMIM:202150
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... OMIM:615542
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Precocious puberty, Long penis ORPHA:3000
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size, Microphallus OMIM:614840
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Cryptorchidism, Decreased te... ORPHA:1646
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Non-obstructive azoospermia OMIM:619528
Partington Syndrome
Macroorchidism ORPHA:94083
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Babinski sign, Retinal degeneration, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia OMIM:619145
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Microphthalmia, Retinal dysplasia OMIM:615771
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Chorioretinal degeneration OMIM:616311
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Azoospermia ORPHA:98797
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Clonus, Lack of facial subcutaneous fat, Loss of subcutaneo... OMIM:606721
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus, Retinal degeneration OMIM:204500
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Myoclonus, Macular degeneration, Ataxia, Flexion contracture... OMIM:256730
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Ataxia, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Morm Syndrome
Hyperactivity, Retinal dystrophy, Retinal atrophy, Truncal obesity ORPHA:75858
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Laurence-Moon Syndrome
Spastic paraplegia, Ataxia, Pigmentary retinopathy OMIM:245800
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
46,Xy Sex Reversal 10
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... OMIM:616425
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Mental Retardation, Autosomal Dominant 51
Cryptorchidism OMIM:617788
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Decreased testicular size, Cryptorchidism OMIM:146110
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Retinal degeneration, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis OMIM:256731
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity, Pigmentary retinopathy OMIM:614307
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Cryptorchidism OMIM:264600
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling, Lower limb spasticity, Ataxia, Inability ... OMIM:619389
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Knee clonus, Retinal degeneration, Spastic gait, Lower limb spasticity, Macular de... OMIM:604360
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration OMIM:153700
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Ataxia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Small for gestational age, Pigmentary retinopathy OMIM:275400
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Failure to thrive, Tetraplegia, Hyperactivity, Hypertonia, Lethargy OMIM:274270
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Decreased testicular size, Cryptorchidism OMIM:616030
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Bardet-Biedl Syndrome 13
Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal bloo... OMIM:615990
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Bardet-Biedl Syndrome 16
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615993
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Abnormality of retinal pigmentation ORPHA:2579
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Optic atrophy, Hepatomegaly, Babinski sign, Rod-cone dystrophy, Diffuse hepatic steatos... OMIM:264470
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ataxia, Retinal degeneration, Spasticity OMIM:225755
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Macular degeneration ORPHA:85334
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size OMIM:614858
Hyperreflexia
Abnormality of retinal pigmentation, Ankle clonus OMIM:145290
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Spasticity, Retinal degeneration, Rigidity OMIM:616211
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Ataxia, Optic atrophy, Retinopathy OMIM:610951
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy OMIM:605670
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Ma... OMIM:164500
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Babinski sign, Waddling gait, Spasticity, Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Alg6-Cdg
Retinal degeneration, Failure to thrive, Rod-cone dystrophy, Abnormality of the liver, Ataxia, Ja... ORPHA:79320
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism OMIM:614279
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Pigmentary retinopathy OMIM:609016
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration, Giant cell hepatitis, Cholelithiasis, Ataxia, Camptodactyly ... OMIM:214980
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spasticity, Babinski sign, Hyporeflective spaces on macular OCT, Retinal pigment epit... ORPHA:506353
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Azoospermia, Hypogonadotropic hypogo... ORPHA:52901
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Spastic paraplegia OMIM:236130
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Small scrotum, Urogenital sinus anomaly, Ambiguous genitalia, male, Ambiguous geni... ORPHA:753
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... ORPHA:8
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Decreased testicular size, Cryptorchidism OMIM:614880
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Abnormality... OMIM:251270
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... OMIM:617406
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Splenomegaly OMIM:602271
Senior-Loken Syndrome
Congenital hepatic fibrosis, Ataxia, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Arthrogryposis multiplex cong... ORPHA:1466
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Optic atrophy, Retinal degeneration, Limb hypertonia, Rigidity, Failure to... ORPHA:442835
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Nephronophthisis 15
Obesity, Retinal degeneration, Hepatic failure OMIM:614845
Microphthalmia, Isolated 5
Foveoschisis, Microphthalmia, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone s... OMIM:611040
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Myoclonus, Tremor, Hyperactivity, Ataxia, Hypertriglyceridemia, Tetrapare... OMIM:615924
Fragile X Syndrome
Macroorchidism ORPHA:908
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Bardet-Biedl Syndrome 4
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615982
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy OMIM:616171
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Microphthalmia, Retinal degeneration, Cystoid macular degeneration OMIM:267760
Mucolipidosis Iv
Babinski sign, Dystonia, Optic atrophy, Retinal degeneration, Spastic tetraplegia OMIM:252650
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Abnormality of retinal pigmentation, Microphthalmia, ... ORPHA:858
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Multiple Mitochondrial Dysfunctions Syndrome 5
Spasticity, Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Mental Retardation, X-Linked 92
Decreased testicular size OMIM:300851
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration OMIM:610381
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Decreased testicular size, Cryptorchidism, Azoospermia OMIM:614897
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnorma... ORPHA:99
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Retinal degeneration, Pigmentary retinopathy OMIM:520000
Ceroid Lipofuscinosis, Neuronal, 10
Rigidity, Neonatal death, Rod-cone dystrophy, Ataxia, Spasticity, Retinal atrophy OMIM:610127
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Glutathione Synthetase Deficiency
Spastic tetraparesis, Ataxia, Intention tremor, Pigmentary retinopathy OMIM:266130
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Oculorenocerebellar Syndrome
Spastic diplegia, Retinal degeneration, Choreoathetosis OMIM:257970
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Rod-cone dystrophy, Macul... OMIM:204200
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Leigh Syndrome With Leukodystrophy
Dystonia, Optic atrophy, Failure to thrive, Progressive cerebellar ataxia, Spasticity, Pigmentary... ORPHA:255241
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Large for gestational age ORPHA:356996
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Cone dystrophy, Macular degeneration OMIM:600977
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Peripheral retinal atrophy, Macular dystrophy, Drusen OMIM:136550
Autosomal Recessive Spastic Paraplegia Type 15
Gait disturbance, Babinski sign, Upper limb spasticity, Pseudobulbar paralysis, Hand tremor, Abno... ORPHA:100996
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... ORPHA:816
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Retinal detachment OMIM:212550
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Microphthalmia, Retinal fold, Subretinal fluid ORPHA:209956
Kearns-Sayre Syndrome
Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis ORPHA:480
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Macular Degeneration, Age-Related, 3
Drusen, Choroidal neovascularization, Decreased nerve conduction velocity, Macular degeneration, ... OMIM:608895
Aceruloplasminemia
Involuntary movements, Dystonia, Abnormality of retinal pigmentation, Retinal degeneration, Eleva... ORPHA:48818
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Optic disc pallor, Opisthotonus, Frequent falls, Weight loss, Rod-cone dystroph... ORPHA:216866
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Increa... ORPHA:325124
Polyembryoma
Macroorchidism, Isosexual precocious puberty ORPHA:180229
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Poor motor coordination, Myoclonus, Reduced subcutaneous adipose tissue, Reduced in... ORPHA:363400
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Pigmentary retinopathy, Optic atrophy, Attenuation of retinal blood vess... OMIM:609033
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Optic disc pallor, Retinal degeneration, Myoclonic spasms, Poor motor coordination, S... ORPHA:79264
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Abnormality of retinal pigmentation, Dysmetria, Tremor, Ataxia, Hyper... ORPHA:96
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Optic atrophy, Babinski sign, Myoclonus, Ataxia, Flexion contracture, Pigmentary retino... OMIM:252011
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Choreoathetosis, Spastic tetraplegia, Spasticity OMIM:300438
Narp Syndrome
Babinski sign, Retinal arteriolar tortuosity, Optic disc pallor, Myoclonic spasms, Retinal pigmen... ORPHA:644
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... ORPHA:91348
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Spastic Paraplegia 15, Autosomal Recessive
Babinski sign, Clonus, Retinal degeneration, Paraplegia, Spastic gait, Lower limb spasticity, Mac... OMIM:270700
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Microphthalmia, Spastic ... OMIM:615663
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Retinal Dystrophy And Obesity
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... OMIM:616188
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia OMIM:616657
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Bardet-Biedl Syndrome 2
Obesity, Retinal degeneration, Rod-cone dystrophy OMIM:615981
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryptorchidism, M... ORPHA:752
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Leigh Syndrome
Dystonia, Optic atrophy, Hepatocellular necrosis, Failure to thrive, Ataxia, Spasticity, Pigmenta... OMIM:256000
Leber Congenital Amaurosis 1
Eye poking, Hepatomegaly, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Congenital Muscular Dystrophy With Intellectual Disability
Poor gross motor coordination, Abnormality of connective tissue, Facial palsy, Loss of ability to... ORPHA:370968
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Progressive gait ataxia, Fasciculations, Macular degeneration, Intention tremor, Progr... ORPHA:284289
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait, Elbow f... OMIM:619470
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Hyperactivity, Ataxia, Spasticity OMIM:300983
Hsd10 Disease, Infantile Type
Dystonia, Optic atrophy, Retinal degeneration, Choreoathetosis, Poor coordination, Rod-cone dystr... ORPHA:391428
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Atypica... ORPHA:791
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Retinal degeneration, Hepatic fibrosis, Splenomegaly, Oculomotor apraxia, Cholestas... OMIM:615630
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Cryptorchidism, ... OMIM:614837
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Large for gestational age OMIM:248110
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Azoospermia OMIM:309120
Non-Functioning Pituitary Adenoma
Macroorchidism, Macroorchidism, postpubertal, Adrenocorticotropic hormone deficiency, Hypogonadot... ORPHA:91349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy, Hemiplegia ORPHA:2743
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... ORPHA:215
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Aceruloplasminemia
Retinal degeneration, Torticollis, Chorea, Abnormality of extrapyramidal motor function, Cogwheel... OMIM:604290
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Endometrial carcinoma, Female external genitalia in individu... ORPHA:90790
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Choroidal neovascularization, Macular dystrophy, Vitelliform-like macula... OMIM:608161
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation OMIM:609218
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Sjogren-Larsson Syndrome
Macular degeneration, Retinal pigment epithelial atrophy, Enamel hypoplasia, Spasticity, Retinal ... OMIM:270200
Leber Congenital Amaurosis 2
Eye poking, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Pantothenate Kinase-Associated Neurodegeneration
Retinal flecks, Rod-cone dystrophy, Gait disturbance, Choreoathetosis, Intention tremor, Slurred ... ORPHA:157850
Bardet-Biedl Syndrome 9
Retinal degeneration, Bone spicule pigmentation of the retina, Truncal obesity, Rod-cone dystroph... OMIM:615986
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Microphthalmia, Aplasia/Hypoplasia of the iris... ORPHA:290
Ramon Syndrome
Failure to thrive, Abnormality of retinal pigmentation, Abnormal dental enamel morphology ORPHA:3019
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Joubert Syndrome 28
Oculomotor apraxia, Ataxia, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Gait disturbance, Postural tremor, Rigidity, Hand tremor, Head tremor, P... ORPHA:412057
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ataxia, Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Hypobetalipoproteinemia, Familial, 1
Ataxia, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... ORPHA:891
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia, Large for gestational age ORPHA:2432
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Gait imbalance, Limb dysmetria, Loss of ability to walk, Pigmentary retinopathy, Abnormal pyramid... ORPHA:329336
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ... ORPHA:1390
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Microphthalmia, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreou... OMIM:305390
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Exudative vitreoretinopathy, Loss of ability to walk, Retinal detachment, Waddlin... ORPHA:2788
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Pigmentary retinopathy OMIM:619473
Joubert Syndrome 6
Chorioretinal coloboma, Hepatic fibrosis, Retinal degeneration, Bile duct proliferation, Ataxia, ... OMIM:610688
Maternal Uniparental Disomy Of Chromosome 4
Impaired proprioception, Optic atrophy, Hypocholesterolemia, Dysmetria, Spastic gait, Rod-cone dy... ORPHA:96180
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity, Pigmentary retinopathy OMIM:268050
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Head titubation, Retinal dystrophy, Oculomotor apraxia, Ataxia, Retinal atrophy ORPHA:370022
Retinitis Pigmentosa 7
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:608133
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Poor coordination, Bone spicule pigmentation of the retina... OMIM:615994
Isolated Succinate-Coq Reductase Deficiency
Babinski sign, Frequent falls, Weight loss, Knee flexion contracture, Loss of ability to walk, At... ORPHA:3208
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Failure to thrive, Cholestatic liver disease, ... ORPHA:5
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Babinski sign, Abnormality of retinal pigmentation, Abnormal pyramidal sign, Spasticity ORPHA:397951
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex OMIM:615147
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Keloids, Abnormality of retinal pigmentation ORPHA:3085
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Abetalipoproteinemia
Impaired proprioception, Rod-cone dystrophy, Steatorrhea, Abnormality of retinal pigmentation, He... ORPHA:14
Refsum Disease, Classic
Ataxia, Retinal degeneration, Rod-cone dystrophy, Somatic sensory dysfunction OMIM:266500
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Smith-Magenis Syndrome
Impaired pain sensation, Stereotypy, Hypercholesterolemia, Hyperactivity, Retinal detachment, Hyp... OMIM:182290
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Chorioretinal coloboma, Inguinal hernia, Macular coloboma, U... ORPHA:2196
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Retinal dysplasia ORPHA:324416
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Abnormal auditory evoked potentials, At... OMIM:619260
Bardet-Biedl Syndrome 1
Aganglionic megacolon, Gait imbalance, Retinal degeneration, Hepatic fibrosis, Poor coordination,... OMIM:209900
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Microphthalmia, Chorioretinal coloboma ORPHA:1473
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Hepatomegaly, Failure to thrive, Myoclonus, Ataxia, P... OMIM:560000
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Retinal degeneration, Myoclonus, Cortical myoclonus, Stereotypy, Hyperactivity,... ORPHA:168491
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Gait disturbance, Pigmentary retinopathy, Bone spicule pigmentation of t... ORPHA:88628
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Warburg Micro Syndrome 1
Failure to thrive, Optic atrophy, Spastic diplegia, Microphthalmia OMIM:600118
Senior-Loken Syndrome 9
Hepatic fibrosis, Retinal dystrophy, Rod-cone dystrophy, Macular degeneration, Cholestasis, Obesity OMIM:616629
Joubert Syndrome 8
Hepatomegaly, Optic disc pallor, Ataxia, Oculomotor apraxia, Hypertonia, Pigmentary retinopathy, ... OMIM:612291
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc, Hemiplegia/hemiparesis ORPHA:65
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Refsum Disease
Abnormality of retinal pigmentation, Microphthalmia, Splenomegaly, Ataxia, Retinopathy, Abnormal ... ORPHA:773
Jeune Syndrome
Abnormality of the liver, Abnormality of retinal pigmentation ORPHA:474
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Cerebellar Ataxia-Hypogonadism Syndrome
Ataxia, Abnormality of retinal pigmentation, Optic atrophy, Hemiplegia/hemiparesis ORPHA:1173
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Macular edema, Rod-cone dystrophy, Choriore... OMIM:613750
Retinitis Pigmentosa 2
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism OMIM:618874
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Gait disturbance, Arm dystonia, Retinal degeneration, Babinski sign, Speech ... ORPHA:79244
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Bilateral microphthalmos OMIM:611638
Poretti-Boltshauser Syndrome
Oculomotor apraxia, Retinal dystrophy, Retinal thinning, Retinal atrophy OMIM:615960
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Babinski sign, Retinal degeneration, Decreased circulating antibody level, Splenome... OMIM:248500
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Abetalipoproteinemia
Ataxia, Retinal degeneration, Retinopathy OMIM:200100
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Hypertonia, Flexion contracture ORPHA:141
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic necrosis, Increased circulating free fatty acid level, Hepatic steatos... ORPHA:71212
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia, Chorioretinal coloboma OMIM:616428
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Distal sensory impairment, Ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Trun... OMIM:617675
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Microphthalmia, Chorioretinal dysplasia, Chorioretinal lacunae, Reti... OMIM:152950
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Mccune-Albright Syndrome
Macroorchidism, Goiter, Abnormal testis morphology, Hyperplasia of the Leydig cells, Elevated cir... ORPHA:562
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Nephronophthisis 14
Retinal degeneration OMIM:614844
Androgen Insensitivity, Partial
Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorchidism, Perine... OMIM:312300
Optic Atrophy 11
Optic atrophy, Dysmetria, Facial diplegia, Hyperactivity, Ataxia, Hyperkinetic movements OMIM:617302
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613660
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Retinal degeneration, Opisthotonus OMIM:616896
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Gait disturbance, Optic atrophy, Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis, Atax... ORPHA:436271
Aromatase Deficiency
Macroorchidism, postpubertal, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Female... ORPHA:91
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Cafe-au-lait spot ORPHA:436151
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Dystonia, Gait disturbance, Pigmentary retinopathy, Optic atrophy, Retinal degenera... OMIM:234200
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Joubert Syndrome 22
Oculomotor apraxia, Microphthalmia, Retinal dysplasia OMIM:615665
Gombo Syndrome
Microphthalmia OMIM:233270
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Oguchi Disease
Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness, Rod-cone dystrophy ORPHA:75382
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia, Retinal degeneration, Flexion contracture OMIM:615249
Mucolipidosis Type Iv
Gait disturbance, Abnormality of retinal pigmentation, Ataxia, Retinopathy ORPHA:578
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Microphthalmia, Optic nerve hypoplasia OMIM:617914
Norrie Disease
Optic atrophy, Retinal fold, Microphthalmia, Retinal dysplasia, Hypoplasia of the iris, Retinal d... OMIM:310600
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Hyperactivity, Progressive cere... ORPHA:248111
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Dysmetria, Tremor, Progressive cerebellar ataxia, Dysdiadochokinesis, Lipoma, ... ORPHA:502423
Warburg Micro Syndrome 3
Optic atrophy, Microphthalmia, Spastic tetraplegia, Ankle clonus, Flexion contracture OMIM:614222
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Chorioretinal atrophy OMIM:210370
Trisomy 20P
Hypospadias, Macroorchidism, Cryptorchidism ORPHA:261318
Mitochondrial Trifunctional Protein Deficiency
Small for gestational age, Failure to thrive, Elevated circulating aspartate aminotransferase con... OMIM:609015
Autosomal Recessive Spastic Paraplegia Type 11
Progressive spasticity, Gait disturbance, Parkinsonism, Retinal degeneration, Orthostatic hypoten... ORPHA:2822
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Paresthesia, Dysmetria, Intention tremor, Ataxia, Camptodactyly of finger, Abnorm... ORPHA:48431
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Scheie Syndrome