Gene: Col18a1 MGI:88451

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Gene Summary

Name:
collagen, type XVIII, alpha 1
Synonyms:
endostatin

IMPC Data Collections

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 optic disk morphology Col18a1tm1.1(KOMP)Vlcg HOM Early adult 3.46×10-11
abnormal iris pigmentation Col18a1tm1.1(KOMP)Vlcg HOM Early adult 4.61×10-16
increased circulating triglyceride level Col18a1tm1.1(KOMP)Vlcg HOM   Early adult 2.67×10-06
decreased circulating cholesterol level Col18a1tm1.1(KOMP)Vlcg HOM Early adult 3.69×10-05
increased vertical activity Col18a1tm1.1(KOMP)Vlcg HOM Early adult 9.33×10-09
decreased circulating glucose level Col18a1tm1.1(KOMP)Vlcg HOM   Early adult 4.59×10-05
increased circulating free fatty acids level Col18a1tm1.1(KOMP)Vlcg HOM Early adult 1.58×10-09
irregularly shaped pupil Col18a1tm1.1(KOMP)Vlcg HOM Early adult 1.17×10-07
decreased circulating HDL cholesterol level Col18a1tm1.1(KOMP)Vlcg HOM Early adult 5.83×10-06
increased fasting circulating glucose level Col18a1tm1.1(KOMP)Vlcg HOM Early adult 9.82×10-06
abnormal retinal blood vessel morphology Col18a1tm1.1(KOMP)Vlcg HOM Early adult 6.18×10-15
abnormal lens morphology Col18a1tm1.1(KOMP)Vlcg HOM   Early adult 1.06×10-05
abnormal retina morphology Col18a1tm1.1(KOMP)Vlcg HOM Early adult 6.57×10-05
abnormal retinal vasculature morphology Col18a1tm1.1(KOMP)Vlcg HOM Early adult 2.54×10-16
abnormal placement of pupils Col18a1tm1.1(KOMP)Vlcg HOM Early adult 4.65×10-05
hyperactivity Col18a1tm1.1(KOMP)Vlcg HOM   Early adult 3.08×10-05

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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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (1 of 1)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (1 of 1)
N/A homozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Sleep Wake

Wake state (bmp file)

14 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Eye Morphology

Images Ophthalmoscopy

21 Images

Eye Morphology

Images Slit Lamp

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Adult LacZ

LacZ Images Section

40 Images

X-ray

XRay Images Forepaw

12 Images

Embryo LacZ

LacZ images wholemount

12 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Human diseases caused by Col18a1 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 Col18a1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Col18a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Megalencephaly, Polymicrogyria, Macrocephaly, Hydrocephalus OMIM:615938
Megalencephaly, Autosomal Dominant
Macrocephaly, Megalencephaly, Hydrocephalus OMIM:155350
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Ataxia, Partial albinism, Retinopat... ORPHA:79476
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220200
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Developmental cataract, Gait ataxia, Glucose intolerance, Pigmentary retino... OMIM:606721
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Macrocephaly, Hemimegalencep... OMIM:615937
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Fish-Eye Disease
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Opacification of the corneal stro... OMIM:136120
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Choroideremia, Retinal nonattachment ORPHA:99000
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation... OMIM:126070
Aniridia 1
Aniridia, Glucose intolerance, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, ... OMIM:106210
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Tietz Albinism-Deafness Syndrome
White eyebrow, Hypopigmentation of the fundus, White eyelashes, Generalized hypopigmentation, Blu... OMIM:103500
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus, Cerebellar agenesis OMIM:307010
Alexander Disease
Increased CSF protein, Progressive macrocephaly, Hydrocephalus OMIM:203450
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Corneal arcus OMIM:144300
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Macrocephaly, Microcep... OMIM:618709
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplas... OMIM:619165
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Aplasia/Hypoplasia of the cerebellar vermis, Macrocephaly, Agenesis of corpus call... OMIM:300864
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar dysplasia,... OMIM:604213
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Macrocephaly, Subcortical band heterotopia, Agen... OMIM:600348
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology OMIM:160565
B4Galt1-Cdg
Macrocephaly, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Retinal detachment, Insulin-resistant diabetes mellitus ORPHA:436182
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Spastic ataxia, Gait disturbance, Ataxia, Optic atrophy, Corneal dystrophy ORPHA:2572
Dandy-Walker Malformation With Postaxial Polydactyly
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220220
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Macrocephaly, Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Opacification of the corneal stroma, Decreased HDL cholesterol concentratio... OMIM:245900
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles ORPHA:101071
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Fair hair, Cataract, Hyperactivity, Genera... OMIM:261600
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Ventricular septal defect, Ce... ORPHA:79243
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Freckling, Abnormal macular morphology, Giant melanosomes in melanocytes, ... ORPHA:54
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Glutaric aciduria, Dilation of lateral ventricles, Subependymal cysts, D-2-... OMIM:600721
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance, Optic atrophy OMIM:311100
Optic Atrophy 2
Dysdiadochokinesis, Optic atrophy OMIM:311050
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Cerebral atrophy, Cerebellar hypoplasia, Polymicrogyria, Stage 5 chronic ki... OMIM:617730
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Lethargy, Hyperinsulinemic hyp... ORPHA:71212
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance, Optic atrophy OMIM:614296
Atypical Teratoid Rhabdoid Tumor
Macrocephaly, Hydrocephalus, Cerebral calcification ORPHA:99966
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Brain Small Vessel Disease 2
Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Polymicrogyria, Schizencephaly OMIM:614483
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Increased CSF lactate, Cerebellar vermis atrophy, Elevated circulating ... OMIM:619054
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Ribose 5-Phosphate Isomerase Deficiency
Elevated circulating ribitol concentration, Increased level of D-threitol in plasma, Ataxia, Opti... OMIM:608611
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ventriculomegaly, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydroce... OMIM:602200
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Photoreceptor layer loss on macular OCT, Macular scar, Attenua... ORPHA:179
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Ventricular septal defect, Focal segmental glomerulosclerosis, Renal tubula... OMIM:616730
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy, Ataxia ORPHA:2732
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Ventricular septal defect OMIM:616816
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Woolly Hair
Cataract, Hypopigmentation of hair, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Spastic Ataxia 7, Autosomal Dominant
Dysdiadochokinesis, Spastic ataxia, Optic atrophy OMIM:108650
Oliver-Mcfarlane Syndrome
Central heterochromia, Peripheral axonal neuropathy, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Ceroid Lipofuscinosis, Neuronal, 9
Progressive inability to walk, Optic atrophy, Rod-cone dystrophy, Ataxia OMIM:609055
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Type II diabetes mellitus, Decrea... OMIM:615703
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Abnormal circulating phytanic acid concentration, Limb a... ORPHA:247815
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Cerebellar vermis atrophy, Abnormal pons morphology, Microcephaly, Diffu... ORPHA:77299
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Ventricular septal defect, Focal segmental glomerulosclerosis, Renal tubula... OMIM:618348
Galloway-Mowat Syndrome 3
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Glomerular scl... OMIM:617729
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Macrocephaly, Hydrocephalus, Dandy-Walker m... OMIM:617967
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Urocanase Deficiency
Blue irides, Ataxia, Fair hair OMIM:276880
Spastic Paraplegia 57, Autosomal Recessive
Inability to walk, Optic atrophy OMIM:615658
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal cerebell... ORPHA:2703
Congenital Hydrocephalus
Hydrocephalus, Abnormal heart morphology, Ventriculomegaly, Small cerebral cortex, Abnormal corti... ORPHA:2185
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Abnormal macular morphology, Increased LDL cholesterol concentration, Decre... OMIM:607616
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Pierson Syndrome
Hypoplasia of the ciliary body, Hypoproteinemia, Posterior lenticonus, Microcoria, Hypoplasia of ... OMIM:609049
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Hypoglycemia ORPHA:67048
Riboflavin Transporter Deficiency
Iris hypopigmentation, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physi... ORPHA:97229
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220219
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Maturity-onset diabetes of the young, Elevated circulating crea... OMIM:268040
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Cerebella... ORPHA:370959
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus, Hypertension OMIM:166990
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, Ataxia, Wh... OMIM:277580
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Renal insufficiency, Renal cortical cysts, Absent septum pellucidum, Ventriculome... ORPHA:397715
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Methionine Malabsorption Syndrome
White hair, Positive ferric chloride test, Blue irides, Aminoaciduria OMIM:250900
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Hypopigmentation of ... OMIM:203200
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
Lcat Deficiency
Hematuria, Corneal opacity, Hypertriglyceridemia, Renal insufficiency, Proteinuria ORPHA:650
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract, Optic atrophy OMIM:618727
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Macrocephaly, Microcephaly, Agenesis of corpus callosum OMIM:303350
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Cerebellar hypoplasia, Dilated fourth ventricle, Vesicoureteral reflux... ORPHA:3078
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Renal cyst OMIM:614870
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydr... OMIM:613154
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... OMIM:305390
16P13.2 Microdeletion Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Micropenis, P... ORPHA:500055
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes mellitus, Diff... OMIM:610717
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Gait disturbance, Incre... OMIM:616516
Waardenburg Syndrome, Type 4B
White eyebrow, Heterochromia iridis, Premature graying of hair, Aganglionic megacolon, White eyel... OMIM:613265
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyperglycinemia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white ... ORPHA:284417
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Horner Syndrome, Congenital
Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Cach Syndrome
T2 hypointense thalamus, Progressive macrocephaly, Renal hypoplasia, Cerebral atrophy, Nonketotic... ORPHA:135
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 chronic kidney... OMIM:617575
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Gait disturbance, Optic atrophy, Hyperglycinemia OMIM:616859
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar vermis hypoplasia, ... OMIM:615960
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Cataract, Polycystic kidney dysplasia, Hypoplasia of the retina OMIM:263100
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Hydrocephalus OMIM:129850
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy OMIM:618572
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon OMIM:602482
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Hypoalbuminemia, Renal insufficienc... OMIM:256300
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Perivascular spaces, Hyperintensity of cerebral white matter on MRI, ... ORPHA:544488
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Facial paralysis, Hypoplasia of the iris, Ect... OMIM:175780
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar pe... ORPHA:370022
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ... ORPHA:488627
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Hyperactivity, Hypopigmentation of the s... ORPHA:411515
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Hypoglutaminemia, Subependymal cysts, Hyperammonemia, Bradycar... OMIM:610015
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Megalencephaly, Abnormal localization of kidney,... ORPHA:83473
Slc35A2-Cdg
Abnormal renal morphology, Cerebral white matter atrophy, Transient nephrotic syndrome, Abnormal ... ORPHA:356961
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Cerebellar atrophy, Inferior vermis hypoplasia, Retrocerebellar cyst OMIM:614831
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration OMIM:614025
Coach Syndrome 2
Hydrocephalus, Elevated circulating creatinine concentration, Cerebellar vermis hypoplasia, Hyper... OMIM:619111
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract, Ataxia ORPHA:231183
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpu... ORPHA:464738
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus mo... ORPHA:39044
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy OMIM:613672
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus OMIM:614830
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Vitreoretinopathy, Ret... OMIM:193235
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w... OMIM:615191
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Developmental cataract, Hypocholesterolemia OMIM:616834
1Q21.1 Microduplication Syndrome
Macrocephaly, Hypospadias, Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Mandibuloacral Dysplasia
Abnormality of skin pigmentation, Hypercholesterolemia, Glucose intolerance, Hyperinsulinemia, In... ORPHA:2457
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Abnormal glomer... ORPHA:567544
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Microce... OMIM:618606
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Retinal degeneration, Optic atrophy OMIM:614322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Lissencephaly, Cerebellar cyst, Ventriculomegaly, Abnormal cer... OMIM:613153
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Type II lissencephaly, Ventriculomegaly, Macrocephaly at birth, Hydrocep... ORPHA:324416
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, Retinal dystrophy OMIM:614706
Galloway-Mowat Syndrome 1
Renal insufficiency, Pachygyria, Focal segmental glomerulosclerosis, Hypoplasia of the corpus cal... OMIM:251300
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic... ORPHA:26792
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Ataxia ORPHA:231169
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Aganglionic megacolo... ORPHA:2885
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Progressive inability to walk, Optic atrophy, Macular degeneration, Rod-cone dystrophy OMIM:204200
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension, Microscopic hematuria, Stage 5 chron... OMIM:161900
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning, Ataxia OMIM:618970
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Pigmentary retinopathy, Ataxia, Hypocholesterolemia, Decreased LDL choleste... ORPHA:96180
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Microcephaly, Dilation of lateral ventricles OMIM:619278
Hec Syndrome
Developmental cataract, Abnormal pupil morphology, Abnormal retinal vascular morphology ORPHA:2119
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Linear Skin Defects With Multiple Congenital Anomalies 3
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Dilated cardiomyopathy, Agenes... OMIM:300952
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Orthostatic hypotension, Decreased circulating cortisol level, Abnormal autonomic ner... OMIM:231550
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Optic Atrophy 5
Optic atrophy OMIM:610708
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Partial agenesis ... OMIM:304100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Cerebellar hypoplasia, Anen... OMIM:615287
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:565624
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma, Retinal dystrophy, Microcornea OMIM:615147
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Iris neovascularization, Abnor... ORPHA:94058
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Microcephaly, Hydrocephalus ORPHA:398189
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Malan Overgrowth Syndrome
Macrocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles ORPHA:420179
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Ataxia, Cerulean cataract OMIM:616732
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Conjunctivitis, Hypertriglyceridemia OMIM:603552
Congenital Bile Acid Synthesis Defect Type 4
Iris hypopigmentation, Type II diabetes mellitus ORPHA:79095
Glutaric Acidemia I
Glutaric aciduria, Elevated circulating glutaric acid concentration, Macrocephaly, Ketonuria, Dil... OMIM:231670
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis atrophy ORPHA:1170
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Hyperactivity, Diabetes mellitus, Blue irides OMIM:614613
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Iris coloboma, Microcornea, White for... OMIM:601706
Peroxisome Biogenesis Disorder 9B
Elevated levels of phytanic acid, Cataract, Rod-cone dystrophy, Ataxia OMIM:614879
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormal cerebral white matter morphology, Cerebral atrophy, Dilated third ventricle, Urinary inc... ORPHA:314404
Leber Congenital Amaurosis 4
Macular atrophy, Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Opti... OMIM:604393
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Fibronectin Glomerulopathy
Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce... ORPHA:84090
Glycerol Kinase Deficiency
Hypertriglyceridemia, Lethargy, Hypoglycemia OMIM:307030
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Macrocephaly, Abnormal cerebellar vermis morphology, Type II ... ORPHA:300570
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Blue irides, Hyperactivity OMIM:615516
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Progressive macrocephaly, Abnormal caudate nucleus morphology, Pallidal degenerat... ORPHA:25
Paganini-Miozzo Syndrome
Urinary incontinence, Dilation of lateral ventricles OMIM:301025
Peroxisome Biogenesis Disorder 3B
Retinal dystrophy, Rod-cone dystrophy, Steatorrhea, Hypocholesterolemia OMIM:266510
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Macrocephaly, Hy... ORPHA:1931
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Progressive macrocephaly, Ventricular septal defect, Ventriculomegaly, M... OMIM:602501
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia OMIM:609016
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Ataxia, Hypertriglyceridemia, Limb dystonia, H... ORPHA:363400
Spondylo-Ocular Syndrome
Iris hypopigmentation, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens ORPHA:85194
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Hypoplasia of the corpus callosum, Pulmonic stenosis, Patent foramen ovale, Dil... OMIM:618914
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Methanol Poisoning
Basal ganglia necrosis, Bilateral basal ganglia lesions, Abnormal caudate nucleus morphology, Int... ORPHA:31825
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Thick cerebral cortex, Abnormal heart morphology, Ventricular septal defect... ORPHA:261183
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation... ORPHA:79434
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy, Ataxia OMIM:610951
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Nephronophthisis 11
Nephronophthisis, Anisocoria, Polyuria, Retinal degeneration, Renal corticomedullary cysts, Stage... OMIM:613550
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Ataxia, Sensory axonal neuropathy ORPHA:329314
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Familial Dysautonomia
Heterochromia iridis, Orthostatic hypotension, Corneal erosion, Gait disturbance, Hyponatremia, C... ORPHA:1764
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Intracranial hemorrhage, Ventriculomegaly, Meningocele, Arn... ORPHA:2481
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Ataxia, Peripheral axonal neuropathy, Elevated circulating creatine... OMIM:615673
Pseudo-Torch Syndrome 2
Ventriculomegaly, Cerebellar hypoplasia, Polymicrogyria, Cerebral hemorrhage, Petechiae, Cerebral... OMIM:617397
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Partial albinism, Hyp... ORPHA:79477
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Increased CSF lactate, ST segment depression, Hypopituitar... ORPHA:90065
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb... ORPHA:329918
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebellar atrophy, Cerebral ca... OMIM:610333
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Bicuspid aortic valve, Secondary microcephal... ORPHA:397951
Galloway-Mowat Syndrome 5
Pachygyria, Ventriculomegaly, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syn... OMIM:617731
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hyperalaninemia, Hypoglycemia, Optic atrophy OMIM:614702
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Waardenburg Syndrome, Type 2A
Albinism, White eyebrow, Heterochromia iridis, Premature graying of hair, White eyelashes, Hypopl... OMIM:193510
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Retinal detachment, Hyperactivity OMIM:182290
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcep... ORPHA:293725
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebellar hypoplasia, Abnormal lateral ve... ORPHA:488635
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebral calcification ORPHA:85335
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Elevated circulating long chain fatty acid concentratio... OMIM:214110
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Cerebellar vermis hypopla... OMIM:304050
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Abnormal heart morphology, Anterior hypopituitarism, Renal dysplasia, Mac... OMIM:241800
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia OMIM:616222
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral calcification OMIM:116860
Pettigrew Syndrome
Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocephalus, Dandy-... OMIM:304340
Immunodeficiency 8
Hyperactivity OMIM:615401
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Ataxia OMIM:616881
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cardiomyopa... ORPHA:572798
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Proteus-Like Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Cataract, Retinal detachment, Abnormal pupil m... ORPHA:2969
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia ORPHA:251347
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Agenesis o... OMIM:225790
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Aganglionic megacolon,... ORPHA:895
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia ORPHA:280356
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Abnormalit... ORPHA:79431
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Autosomal Recessive Cutis Laxa Type 2A
Abnormal bleeding, Cerebellar malformation, Pachygyria, Thick cerebral cortex, Cerebellar vermis ... ORPHA:357058
Sturge-Weber Syndrome
Conjunctival telangiectasia, Heterochromia iridis, Iris coloboma, Abnormal choroid morphology, Ab... ORPHA:3205
Neurodegeneration With Brain Iron Accumulation
Dystonia, Optic atrophy, Retinopathy ORPHA:385
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Unsteady gait, Type II diabetes mellitus, Hyperglyc... OMIM:520000
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agene... ORPHA:1528
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:1532
Autosomal Recessive Spastic Paraplegia Type 45
Spastic gait, Optic atrophy ORPHA:320396
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Cerebellar vermis hypoplasia... ORPHA:1692
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Ataxia, Abnormality of the optic nerve, Gene... ORPHA:33445
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... OMIM:616188
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Mucolipidosis Iv
Dystonia, Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic atrophy OMIM:252650
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Hypocho... OMIM:618156
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Cardiomegaly, Renal insufficiency, Ureteral duplication, Antenatal int... OMIM:608836
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia OMIM:611726
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Camos Syndrome
Optic atrophy, Ataxia ORPHA:83472
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Heart block, Cerebral calcification, Cardiomegaly, Elevated circulating creatine... ORPHA:228308
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stress urinary incontinence, Intracranial hemorrhage, Recurrent subcortical infa... ORPHA:136
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Hypocholesterolemia, Decreased LDL cholesterol concent... OMIM:256840
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Hypoketotic hypoglycemia, Increased circulating free fat... ORPHA:26793
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Macrocephaly, Atrial septal defect, Abnormal heart morphology, Ventricul... ORPHA:457279
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hyperinsulinemia, Cataract, Abnormal retinal va... ORPHA:791
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Griscelli Syndrome
Iris hypopigmentation, Premature graying of hair, Silver-gray hair, White ha