Gene Summary

Name:
scribbled planar cell polarity
Synonyms:
Crc,  Scrb1

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 retina morphology Scribtm1b(NCOM)Mfgc HET Early adult 6.47×10-07
abnormal craniofacial morphology Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
increased circulating triglyceride level Scribtm1b(NCOM)Mfgc HET   Early adult 2.25×10-05
abnormal eye morphology Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
preweaning lethality, complete penetrance Scribtm1b(NCOM)Mfgc HOM   Early adult 0.00
abnormal embryo size Scribtm1b(NCOM)Mfgc HOM E9.5 0.00
abnormal neural tube closure Scribtm1b(NCOM)Mfgc HOM E9.5 0.00
pale yolk sac Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal hindbrain morphology Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
decreased grip strength Scribtm1b(NCOM)Mfgc HET   Early adult 6.02×10-05
abnormal gait Scribtm1b(NCOM)Mfgc HET Early adult 8.72×10-05
abnormal midbrain morphology Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal embryo size Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal pericardium morphology Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal embryo size Scribtm1b(NCOM)Mfgc HOM E15.5 0.00
abnormal neural tube closure Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal craniofacial morphology Scribtm1b(NCOM)Mfgc HOM E15.5 0.00
embryonic growth retardation Scribtm1b(NCOM)Mfgc HOM E9.5 0.00
abnormal placenta size Scribtm1b(NCOM)Mfgc HOM E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 100% (2 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 100% (2 of 2)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)

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 Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Histopathology

Images

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

6 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Immunophenotyping

Panel A FCS file(s)

3 Images

Immunophenotyping

Panel B FCS file(s)

3 Images

Human diseases caused by Scrib mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Tumor Predisposition Syndrome 1
Malignant mesothelioma, Uveal melanoma, Renal cell carcinoma, Meningioma, Lung adenocarcinoma, Cu... OMIM:614327
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia, Retinal dysplasia, Hydrocephalus, Ventriculomegaly ORPHA:324416
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum,... ORPHA:1528
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus ORPHA:352682
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele, Agenesis of corpus callosum OMIM:218670
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbital cyst, Orbital encephalocele, Age... OMIM:164180
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Lissencephaly 8
Optic atrophy, Ventriculomegaly, Occipital encephalocele, Microphthalmia OMIM:617255
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Encephalocele, Abnormal optic disc morphology ORPHA:65
Lissencephaly 5
Optic atrophy, Occipital encephalocele, Hydrocephalus OMIM:615191
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hartsfield Syndrome
Microphthalmia, Telecanthus, Encephalocele, Lobar holoprosencephaly, Downslanted palpebral fissur... ORPHA:2117
Joubert Syndrome 16
Dandy-Walker malformation, Encephalocele, Retinal dystrophy OMIM:614465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Microphthalmia, Retinal dysplasia OMIM:614830
Congenital Hydrocephalus
Optic atrophy, Hydrocephalus, Downslanted palpebral fissures, Colpocephaly, Ventriculomegaly, Mac... ORPHA:2185
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Telecanthus, Ethmoidal encephalocele, Optic nerve hypoplasia, Eyelid co... OMIM:607597
Joubert Syndrome 9
Ventriculomegaly, Encephalocele, Retinal dystrophy OMIM:612285
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Joubert Syndrome 14
Optic atrophy, Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformati... OMIM:614424
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Meckel Syndrome 13
Retinopathy, Occipital encephalocele OMIM:617562
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Microphthalmia, Retinal detachment, Optic nerve hypoplasi... ORPHA:370959
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Distal Deletion 13Q
Optic atrophy, Anencephaly, Encephalocele, Aplasia/Hypoplasia affecting the eye, Holoprosencephaly ORPHA:1590
Absent Eyebrows And Eyelashes With Mental Retardation
Absent eyelashes, Encephalocele, Absent eyebrow OMIM:200130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Death in childhood, Retinal dysplasia, Encephalocele, Retinal detachment, Optic n... OMIM:614643
Cocaine Embryofetopathy
Thoracoabdominal eventration, Encephalocele ORPHA:1911
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Encephalocele ORPHA:217
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Small pituitary gland, Hydrocephalus, Hypoplasia of the iris, Ventricu... OMIM:614195
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hypocholesterolemia, ... OMIM:615558
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Omphalocele, ... OMIM:603194
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Bazex Syndrome
Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Frontofacionasal Dysplasia
Microphthalmia, Upper eyelid coloboma, Encephalocele, Telecanthus, Absent inner eyelashes, Ptosis... ORPHA:1791
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Malignant mesothelioma, Atelectas... ORPHA:2302
Frontonasal Dysplasia 1
Microphthalmia, Anterior basal encephalocele, Ptosis, Agenesis of corpus callosum, Epicanthus, Cr... OMIM:136760
Joubert Syndrome 7
Ptosis, Encephalocele, Retinal dystrophy OMIM:611560
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Optic nerve hypoplasia, Dandy-Walker malformation, Ptosis, Downslanted palp... OMIM:618736
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Neu-Laxova Syndrome 2
Ablepharon, Ventriculomegaly, Intrauterine growth retardation, Spina bifida OMIM:616038
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Parietal Foramina 3
Encephalocele OMIM:609566
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation... OMIM:611134
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt... OMIM:611040
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly, Chorioretinal coloboma OMIM:611638
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Retinopathy, Partial agenesis of the corpus callosum, Intrauterine... OMIM:616171
Joubert Syndrome 8
Occipital encephalocele, Ptosis, Pigmentary retinopathy, Optic disc pallor OMIM:612291
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Encephalocele, Retinal dystrophy, Hydrocephalus, Highly arched eyebrow, Pt... ORPHA:2318
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia OMIM:613885
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Corneopalpebral synechiae, Anophthalmia, Omphalocele, Cryptophthalmos, Eyelid col... OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Microphthalmia, Encephalocele, Retinal dysplasia, Hydrocephalus, Retinal detachmen... OMIM:253800
Parietal Foramina 2
Encephalocele OMIM:609597
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Microphthalmia, Partial agenesis of the corpus callosum, Retinal dysplasia OMIM:615771
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Dilated fourth ventricle, Ptosis... OMIM:614175
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele OMIM:213010
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Encephalocele, Retinal dystrophy, Hydrocephalus, Highly arched eyebrow, Re... ORPHA:220493
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Upper eyelid coloboma, Telecanthus, Conjunctival hyperemia, Absent lacrimal punct... OMIM:167730
Pseudoprogeria Syndrome
Cranium bifidum occultum, Absent eyelashes, Sparse eyebrow, Absent eyebrow ORPHA:2985
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Abnormality of reproductive system physiology, Adrenocorticotrop... ORPHA:1501
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Upper eyelid coloboma, Encephalocele ORPHA:398156
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Epicanthus, Intrauteri... ORPHA:1908
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Telecanthus, Encephalocele, Agenesis of corpus callosum, Intrauterine growth reta... ORPHA:228390
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Anophthalmia Plus Syndrome
Anophthalmia, Blepharophimosis, Eyelid coloboma, Spina bifida ORPHA:1104
Pallister-Hall-Like Syndrome
Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma, Death i... OMIM:241800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chori... OMIM:251270
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia OMIM:615924
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Schisis Association
Omphalocele, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Bartsocas-Papas Syndrome 1
Ectropion, Axillary pterygium, Popliteal pterygium, Microphthalmia, Inguinal hernia, Pterygium, A... OMIM:263650
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Abnormal macular morphology, Increased LDL cholesterol concentration, Decre... OMIM:607616
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Myelomeningocele, Partial agenes... ORPHA:101030
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Occipital encephalocele, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal d... OMIM:236670
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morpho... ORPHA:280195
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Abnormality of retinal pigmentation, Intrauterine growth retardati... ORPHA:858
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Jacobsen Syndrome
Optic atrophy, Microphthalmia, Telecanthus, Hydrocephalus, Abnormal eyelash morphology, Ptosis, H... OMIM:147791
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Microphthalmia, Ankyloblepharon OMIM:123570
Joubert Syndrome 2
Microphthalmia, Retinal dystrophy, Encephalocele, Hydrocephalus, Enlarged fossa interpeduncularis... OMIM:608091
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Synophrys,... OMIM:609637
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Death in childhood, Hydrocephalus, Death in infancy, Colpocephaly, Intrauterine gr... OMIM:616034
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Telecanthus, Anterior pituitary hypoplasia, Choroid plexus cyst, Ptos... ORPHA:1827
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Cofs Syndrome
Optic atrophy, Microphthalmia, Death in infancy, Abnormality of retinal pigmentation, Intrauterin... ORPHA:1466
Parietal Foramina 1
Encephalocele OMIM:168500
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Oculotrichoanal Syndrome
Microphthalmia, Upper eyelid coloboma, Anophthalmia, Cryptophthalmos, Nasolacrimal duct obstruction ORPHA:2717
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia OMIM:165600
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Anencephaly, Spina bifida ORPHA:2476
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Death in infancy, Neonatal death, Ventriculomegaly, Optic disc pallor OMIM:613730
Microphthalmia, Isolated 8
Short palpebral fissure, Microphthalmia, True anophthalmia, Entropion, Anophthalmia, Retinal deta... OMIM:615113
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Hydrocephalus, Optic nerve hypoplasia, Dandy-Walker malformation, Sp... OMIM:605627
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Microphthalmia/Coloboma 10
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic pit OMIM:616428
Neu-Laxova Syndrome 1
Short umbilical cord, Microphthalmia, Stillbirth, Small placenta, Hydranencephaly, Pterygium, Dan... OMIM:256520
Knobloch Syndrome 1
Occipital encephalocele, Spina bifida occulta, Telecanthus, Retinal detachment, Chorioretinal atr... OMIM:267750
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina... ORPHA:891
Frontorhiny
Microphthalmia, Encephalocele, Ptosis, Basal encephalocele, Epicanthus, Hypopituitarism, Cranium ... ORPHA:391474
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Knobloch Syndrome
Occipital encephalocele, Abnormal vitreous humor morphology, Retinal detachment, Macular degenera... ORPHA:1571
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Retinal fold, Exudative retinal detachment, Subretinal fluid ORPHA:209956
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Microtia, first de... OMIM:620444
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Death in childhood, Inguinal hernia, Long eyelashes, ... OMIM:618651
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Ventriculomegaly, Microphthalmia, Agenesis of corpus callosum OMIM:616570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Hydrocephalus OMIM:615181
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Joubert Syndrome 18
Occipital encephalocele, Molar tooth sign on MRI, Agenesis of cerebellar vermis, Intrauterine gro... OMIM:614815
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Retinal detachment, Ptosis, Chorioretinal coloboma ORPHA:1473
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Congenital Herpes Simplex Virus Infection
Hydranencephaly ORPHA:293
Holoprosencephaly
Microphthalmia, Highly arched eyebrow, Retinopathy, Optic atrophy, Encephalocele, Hydrocephalus, ... ORPHA:2162
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Dysdiadochokinesis, Increased L... OMIM:277460
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Orbital cyst, Abnormal nasolacrimal system ... ORPHA:141099
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Intrauterine growth retardation, Frontal encephalocele, Agenesis of corpus callosum, Almond-shape... ORPHA:521308
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Death in childhood, Retinal detachment, Dandy-Walker malformation, Hydrocephalus,... OMIM:613153
46,Xy Ovotesticular Difference Of Sex Development
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... ORPHA:325345
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro... ORPHA:137605
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Coach Syndrome 1
Ptosis, Occipital encephalocele, Encephalocele, Optic disc pallor OMIM:216360
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Optic disc hypoplasia, Peripheral axonal neuropathy, Sparse lateral e... OMIM:619955
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Microphthalmia, Macular atrophy OMIM:267760
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Retinal dystrophy, Meningocele, Dandy-Walker malformation, Dilated third... ORPHA:397715
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly, Omphalocele OMIM:601357
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opaci... OMIM:305390
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Inguinal hernia, Hydrocephalus, Highly arched eyebrow, Ptosis, Chorioret... ORPHA:1454
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Medial flaring of the eyebrow, Retinal detachment, Hydrocephalus, Long eyelashes, ... OMIM:619833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microphthalmia, Facial palsy, Retinal dystrophy OMIM:613155
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Encephalocele, Hydrocephalus, Highly arched eyebrow, Ptosis, Agenesis of c... ORPHA:220497
Fraser Syndrome 1
Bilateral microphthalmos, Upper eyelid coloboma, Encephalocele, Anophthalmia, Hydrocephalus, Abse... OMIM:219000
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Megalopapilla, Encephalocele, Anophthalmia, Retinopathy, ... OMIM:615636
Griscelli Syndrome
Hydrocephalus, Abnormal eyebrow morphology, Encephalocele, Abnormal eyelash morphology ORPHA:381
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Communicating hydrocephalus, Downslanted palpebral fissures, Colpoc... OMIM:615219
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Foveal Hypoplasia 2
Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia, Foveal hyperpigmentation OMIM:609218
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Hydrocephalus, Dandy-Walker malformation, Dilated third ventric... OMIM:613154
Pai Syndrome
Downslanted palpebral fissures, Telecanthus, Encephalocele ORPHA:1993
Fraser Syndrome 3
Hydrocephalus, Cryptophthalmos, Stillbirth OMIM:617667
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia, Hydrocephalus, Lateral ventricle dilatation, Narrow palpebral fissure OMIM:614219
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Pseudotrisomy 13 Syndrome
Microphthalmia, Encephalocele, Hydrocephalus, Omphalocele, Holoprosencephaly, Agenesis of corpus ... OMIM:264480
Gómez-López-Hernández Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum m... ORPHA:1532
Richieri-Costa/Guion-Almeida Syndrome
Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Spina bifida occulta OMIM:268850
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Buphthalmos, Encephalocele, Hydrocephalus, Death in infancy, Agenesis of corpus c... OMIM:613150
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis, Capillary hemangioma, Nephroblas... ORPHA:2849
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Joubert Syndrome
Aganglionic megacolon, Encephalocele, Hydrocephalus, Highly arched eyebrow, Ptosis ORPHA:475
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the iris, Agenesis of cor... OMIM:613001
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Breas... ORPHA:1183
Frontonasal Dysplasia 2
Short palpebral fissure, Microphthalmia, Telecanthus, Encephalocele, Sparse eyelashes, Sparse eye... OMIM:613451
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Barber-Say Syndrome
Ectropion, Sparse or absent eyelashes, Telecanthus, Ablepharon, Aplasia/Hypoplasia of the eyebrow ORPHA:1231
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Occipital encephalocele OMIM:607361
Microphthalmia/Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma OMIM:614497
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia, Enlarged sylvian cistern, Ptosis, Agenesis of corpus callosum OMIM:600118
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Frontonasal Dysplasia 3
Sparse eyelashes, Microphthalmia, Upper eyelid coloboma, Absent eyebrow OMIM:613456
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Cat-Eye Syndrome
Intrauterine growth retardation, Downslanted palpebral fissures, Microphthalmia, Chorioretinal co... ORPHA:195
Lambert-Eaton Myasthenic Syndrome
Hypohidrosis, Small cell lung carcinoma, Impotence, Xerostomia ORPHA:43393
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Microphthalmia, Telecanthus, Absent inner eyelashes, Ptosis, Eyelid ... OMIM:229400
Treacher Collins Syndrome 4
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:618939
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum, Eyelid coloboma ORPHA:268249
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Joubert Syndrome 3
Retinal dystrophy, Highly arched eyebrow, Ptosis, Enlarged fossa interpeduncularis, Lateral ventr... OMIM:608629
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Overfolded helix, Pulmonary hypoplasia, Low-set, posteriorly rotated ears ORPHA:2631
Oculocerebrocutaneous Syndrome
Hydrocephalus, Dandy-Walker malformation, Ptosis, Eyelid coloboma, Ventriculomegaly ORPHA:1647
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Short stature, Molar tooth sign on MRI ORPHA:166024
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Neonatal death, Int... ORPHA:85284
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Occipital encephalocele, Anencephaly, Retinal dysplasia, Hydrocephalus, Da... OMIM:615287
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Duplication Of The Pituitary Gland
Congenital stationary night blindness, Encephalocele, Abnormal pituitary gland morphology, Abnorm... ORPHA:314621
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Microphthalmia, Syndromic 13
Ptosis, Microphthalmia, Chorioretinal coloboma OMIM:300915
Hydrolethalus Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Anencephaly OMIM:614120
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Constricting Bands, Congenital
Encephalocele, Omphalocele, Eyelid coloboma, Bladder exstrophy, Gastroschisis OMIM:217100
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Long eyelashes, Cryptophthalmos, Epicanthus OMIM:615877
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Momo Syndrome
Downslanted palpebral fissures, Eyelid coloboma, Epicanthus, Retinal coloboma OMIM:157980
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Meckel Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Anencephaly, Encephalocele, Ano... ORPHA:564
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology ORPHA:488635
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
46,Xx Sex Reversal 4
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... OMIM:617480
Acrofacial Dysostosis, Cincinnati Type
Aqueductal stenosis, Upper eyelid coloboma, Inguinal hernia, Pterygium, Hydrocephalus, Dandy-Walk... OMIM:616462
Ablepharon Macrostomia Syndrome
Absent eyelashes, Ablepharon, Absent eyebrow, Cryptophthalmos, Omphalocele, Umbilical hernia ORPHA:920
Joubert Syndrome 22
Intrauterine growth retardation, Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Microphthalmia/Coloboma 4
Orbital cyst, Microphthalmia OMIM:251505
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Death in childhood, Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum,... OMIM:619517
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Miscarriage, Encephalocele, Pterygium ORPHA:1865
Acromelic Frontonasal Dysostosis
Encephalocele, Telecanthus, Optic nerve hypoplasia, Choroid plexus cyst, Remnants of the hyaloid ... OMIM:603671
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neoplasm, Female reproductive sys... ORPHA:71505
Burn-Mckeown Syndrome
Short palpebral fissure, Lower eyelid coloboma, Blepharophimosis, Inguinal hernia OMIM:608572
Momo Syndrome
Bilateral microphthalmos, Downslanted palpebral fissures, Chorioretinal coloboma, Eyelid coloboma... ORPHA:2563
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Ventriculomegaly OMIM:602501
Arachnoid Cyst
Encephalocele, Hydrocephalus, Facial palsy, Cranial nerve compression, Ptosis, Enlarged fossa int... ORPHA:2356
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Lateral ventricle dilatation OMIM:618890
Gastroschisis
Intrauterine growth retardation, Gastroschisis ORPHA:2368
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele, Shallow orbits OMIM:224400
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Encephalocele, Dandy-Walker malformation, Agenesis of corpus callosu... OMIM:619148
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... OMIM:609583
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Hydrocephalus, Optic nerve hypoplasia, Intrauterine growth reta... OMIM:619321
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Duodenal Atresia
Abnormality of the pulmonary artery, Annular pancreas, Abnormality of the pancreas ORPHA:1203
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Pagod Syndrome
Optic atrophy, Encephalocele, Meningocele, Omphalocele, Spina bifida, Death in infancy ORPHA:991
Gombo Syndrome
Microphthalmia OMIM:233270
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Neonatal death, Pterygium OMIM:224410
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microphthalmia, Retinal detachment, Downslanted palpebral fissures, Chorioretinal ... OMIM:152950
Griscelli Syndrome Type 1
Retinopathy, Hyperlipidemia, Ataxia ORPHA:79476
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Malformed lacrimal duct, Omphaloce... ORPHA:2052
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Sparse eyelashes, Ptosis, Sparse eyebrow, Epicanthus, Eyelid coloboma, Agenesis o... ORPHA:306542
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Joubert Syndrome 39
Occipital encephalocele, Retinal dystrophy OMIM:619562
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Microphthalmia, Encephalocele, Dandy-Walker malformation, Omphalocele, Sparse eyebrow OMIM:616300
Adams-Oliver Syndrome
Hydrocephalus, Microphthalmia, Encephalocele ORPHA:974
Walker-Warburg Syndrome
Optic atrophy, Microphthalmia, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Hydrocep... ORPHA:899
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele, Omphalocele ORPHA:1335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Malan Overgrowth Syndrome
Optic disc hypoplasia, Downslanted palpebral fissures, Lateral ventricle dilatation, Ventriculome... ORPHA:420179
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Downslanted palpebral fissures, Epicanthus, Lateral ventricle dilatation, Retinal... OMIM:614105
Unilateral Ocular Duplication
Abnormal eyebrow morphology, Blepharophimosis, Encephalocele ORPHA:3374
Microphthalmia/Coloboma 12
Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob... OMIM:120200
Teebi Hypertelorism Syndrome 2
Ptosis, Thick eyebrow, Upper eyelid coloboma OMIM:619736
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Pulmonary hypoplasia, Omphalocele OMIM:601163
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Encephalocele, Hydrocephalus, Omphalocele, Holoprosencephaly, Umbilical hernia ORPHA:2166
Wildervanck Syndrome
Pseudopapilledema, Facial palsy, Congenital sensorineural hearing impairment, Meningocele ORPHA:3456
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Agenesis of corpus callosum, Microphthalmia, Optic disc pallor OMIM:300887
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Aicardi Syndrome
Optic atrophy, Microphthalmia, Retinal detachment, Dandy-Walker malformation, Choroid plexus cyst... OMIM:304050
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Broad eyebrow, Ptosis, Chorioretinal coloboma, Epicanthus, Intraut... ORPHA:494344
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Chorioretinal coloboma OMIM:120433
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI, Hypertrophic cardiomyopathy OMIM:617757
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Upslanted palpebral fissure, Epicanthus ORPHA:2528
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Hydrocephalus, Agenesis of corpus callosum, Retinal degen... OMIM:615249
Knobloch Syndrome 2
Retinal detachment, Vitreoretinopathy, Vitreous floaters, Encephalocele OMIM:618458
Bartsocas-Papas Syndrome
Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypoplasia of the eyebr... ORPHA:1234
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Jacobsen Syndrome
Ectropion, Inguinal hernia, Spina bifida, Death in infancy, Ptosis, Downslanted palpebral fissure... ORPHA:2308
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Exencephaly ORPHA:2211
Slc35A2-Cdg
Dandy-Walker malformation, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Abno... ORPHA:356961
Baraitser-Winter Syndrome 2
Microphthalmia, Telecanthus, Highly arched eyebrow, Long palpebral fissure, Ptosis, Agenesis of c... OMIM:614583
Charge Syndrome
Optic atrophy, Aqueductal stenosis, Microphthalmia, Anterior hypopituitarism, Anophthalmia, Abnor... ORPHA:138
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia ORPHA:141333
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Ptosis, Agenesis of corpus callosum, Lateral ven... OMIM:616602
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatitis, Pleural effusion, Exocrine pancreatic insufficiency, Pancrea... OMIM:167800
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:617127
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Almond-shaped palpebral fissure, Long palpebral fissure, Colpocephaly, Agenesis of... OMIM:620352
Joubert Syndrome 5
Ptosis, Occipital encephalocele, Rod-cone dystrophy, Retinal coloboma OMIM:610188
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Aganglionic megacolon, Telecanthus, Eyelid coloboma, Epicanthus, Agenesi... ORPHA:3339
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Omphalocele ORPHA:2141
Ablepharon-Macrostomia Syndrome
Ventral hernia, Absent eyelashes, Absent eyebrow, Ablepharon, Cryptophthalmos, Omphalocele, Hypop... OMIM:200110
Intellectual Developmental Disorder, Autosomal Dominant 48
Highly arched eyebrow, Synophrys, Dilated fourth ventricle, Long palpebral fissure, Lateral ventr... OMIM:617751
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination, Microphthalmia, Intrauterine growth retardation, Ventriculomegaly, Ab... ORPHA:48431
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele, Omphalocele, Downslanted palpebral fissures ORPHA:90652
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion of lower eyelids, Eyelid coloboma ORPHA:246
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Optic atrophy, Pulmonary hypoplasia OMIM:618174
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Ataxia, Gait ataxia ORPHA:363400
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Acrofrontofacionasal Dysostosis
Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Cerebellar atrophy, Molar tooth sign on... OMIM:617622
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Microphthalmia, Optic nerve hypoplasia, Co... OMIM:609053
Coach Syndrome 2
Hydrocephalus, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma, Telecanthus ORPHA:1777
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Cach Syndrome
Optic atrophy, T2 hypointense thalamus, Optic neuritis, Lateral ventricle dilatation, Intrauterin... ORPHA:135
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Pierpont Syndrome
Ventriculomegaly, Narrow palpebral fissure, Microphthalmia, Telecanthus ORPHA:487825
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Temtamy Syndrome
Microphthalmia, Highly arched eyebrow, Downslanted palpebral fissures, Chorioretinal coloboma, Ag... OMIM:218340
Vacterl With Hydrocephalus
Aqueductal stenosis, Microphthalmia, Inguinal hernia, Anophthalmia, Hydrocephalus, Abnormal optic... ORPHA:3412
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Optic disc coloboma OMIM:169550
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormal lung m... ORPHA:2470
Pierpont Syndrome
Microphthalmia, Telecanthus, Unilateral narrow palpebral fissure, Narrow palpebral fissure, Abnor... OMIM:602342
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar... OMIM:193220
Baraitser-Winter Syndrome 1
Microphthalmia, Highly arched eyebrow, Long palpebral fissure, Ptosis, Chorioretinal coloboma, Ep... OMIM:243310
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Oculoectodermal Syndrome
Bladder exstrophy, Chorioretinal atrophy, Eyelid coloboma, Epicanthus, Limbal dermoid, Pineal cyst OMIM:600268
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Buphthalmos, Macul... OMIM:212550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Limb Body Wall Complex
Short umbilical cord, Ventral hernia, Anencephaly, Encephalocele, Spina bifida occulta, Hydroceph... ORPHA:2369
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly OMIM:612284
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Microphthalmia, Buphthalmos, Retinal dystrophy, Hydrocephalus, Ventriculomegaly OMIM:616538
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:98855
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Ex... ORPHA:2788
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Retinal detachment, Chorioretinal atrophy, Ret... OMIM:612109
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Upper eyelid coloboma, Umbilical hernia ORPHA:2095
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Death in infancy OMIM:618266
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Telecanthus, Dandy-Walker malformation, Retinal coloboma, Holoprosenceph... OMIM:615948
Vacterl/Vater Association
Intrauterine growth retardation, Occipital encephalocele, Anencephaly, Omphalocele ORPHA:887
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Ataxia, Abetalipoproteinemia OMIM:200100
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Synophrys, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Narrow pal... OMIM:620156
Helsmoortel-Van Der Aa Syndrome
Bilateral ptosis, Decreased response to growth hormone stimulation test, Short palpebral fissure,... OMIM:615873
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Alg2-Cdg
Downslanted palpebral fissures, Epicanthus, Lateral ventricle dilatation ORPHA:79326
Fraser Syndrome 2
Cryptophthalmos, Microphthalmia OMIM:617666
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Short stature, Growth delay OMIM:300804
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Inguinal hernia, Retinopathy, Epicanthus, Umbilical hernia ORPHA:2505
Smith-Magenis Syndrome
Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Upslanted palpebral fissure, Lateral ventricle dilata... OMIM:613443
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Nager Syndrome
Ptosis, Downslanted palpebral fissures, Sparse lower eyelashes, Aplasia/Hypoplasia of the eyebrow... ORPHA:245
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Microphthalmia/Coloboma 9
Macular coloboma, Microphthalmia, Retinal detachment, Ptosis, Narrow palpebral fissure OMIM:615145
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Hydrocephalus, Dandy-Walker... OMIM:249000
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia OMIM:603471
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ... OMIM:617296
Joubert Syndrome 6
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Di... OMIM:610688
Treacher-Collins Syndrome
Microphthalmia, Encephalocele, Absent eyelashes, Blepharospasm, Downslanted palpebral fissures, E... ORPHA:861
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Inguinal hernia, Umbilical hernia, Lens coloboma, Lateral ventricle dilatation OMIM:618914
Treacher Collins Syndrome 3
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:248390
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Gait disturbance OMIM:604484
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Lateral ventricle dilatation ORPHA:77299
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:98853
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis, Lateral ventricle dilatation OMIM:619972
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Curry-Jones Syndrome
Ventriculomegaly, Microphthalmia, Agenesis of corpus callosum, Optic disc coloboma ORPHA:1553
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Ptosis, Colpocephaly OMIM:618731
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Weiss-Kruszka Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Colpocephaly, Epicanthus, Agenesis... OMIM:618619
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Holoprosencephaly OMIM:619879
Congenital Primary Aphakia
Microphthalmia, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of... ORPHA:83461
Tropical Calcific Pancreatitis