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
increased circulating triglyceride level Scribtm1b(NCOM)Mfgc HET   Early adult 2.22×10-05
abnormal placenta size Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal embryo size Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal craniofacial morphology Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal neural tube closure Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal eye morphology 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
preweaning lethality, complete penetrance Scribtm1b(NCOM)Mfgc HOM   Early adult 0.00
pale yolk sac Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal neural tube closure Scribtm1b(NCOM)Mfgc HOM E9.5 0.00
abnormal embryo size Scribtm1b(NCOM)Mfgc HOM E9.5 0.00
abnormal embryo size Scribtm1b(NCOM)Mfgc HOM E15.5 0.00
abnormal hindbrain morphology Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal pericardium morphology Scribtm1b(NCOM)Mfgc HOM E12.5 0.00
abnormal midbrain morphology 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 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

OPT E9.5

Embryo reconstruction

8 Images

Gross Pathology and Tissue Collection

Images

8 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Histopathology

Images

3 Images

Immunophenotyping

Panel A FCS file(s)

3 Images

Immunophenotyping

Panel B FCS file(s)

3 Images

Combined SHIRPA and Dysmorphology

Images

1 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
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Tumor Predisposition Syndrome 1
Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu... OMIM:614327
Lung Cancer
Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma OMIM:211980
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus, Retinal dysplasia, Microphthalmia, Occipital encephalocele ORPHA:324416
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Microphthalmia, Frontal enc... ORPHA:1528
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Optic atrophy ORPHA:352682
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele, Agenesis of corpu... OMIM:218670
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Dandy-Walker malformation, Eyelid coloboma, Microphthalmia, ... OMIM:164180
Lissencephaly 8
Occipital encephalocele, Optic atrophy, Microphthalmia, Ventriculomegaly OMIM:617255
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Optic atrophy OMIM:615191
Leber Congenital Amaurosis
Abnormal optic disc morphology, Encephalocele, Abnormality of retinal pigmentation ORPHA:65
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Hartsfield Syndrome
Downslanted palpebral fissures, Encephalocele, Lobar holoprosencephaly, Ptosis, Microphthalmia, T... ORPHA:2117
Joubert Syndrome 16
Retinal dystrophy, Encephalocele, Dandy-Walker malformation OMIM:614465
Congenital Hydrocephalus
Downslanted palpebral fissures, Ventriculomegaly, Optic atrophy, Macular hypoplasia, Hydrocephalu... ORPHA:2185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Hydrocephalus, Microphthalmia, Ventriculomegaly OMIM:614830
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos, Eyelid coloboma, Telec... OMIM:607597
Joubert Syndrome 9
Retinal dystrophy, Encephalocele, Ventriculomegaly OMIM:612285
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Distal Monosomy 13Q
Aplasia/Hypoplasia affecting the eye, Encephalocele, Optic atrophy, Anencephaly, Holoprosencephaly ORPHA:1590
Joubert Syndrome 14
Meningocele, Downslanted palpebral fissures, Morning glory anomaly, Encephalocele, Optic atrophy,... OMIM:614424
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Meckel Syndrome 13
Occipital encephalocele, Retinopathy OMIM:617562
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Optic atrophy, Hydrocephalus, Optic nerve hypoplasia,... ORPHA:370959
Absent Eyebrows And Eyelashes With Mental Retardation
Absent eyelashes, Absent eyebrow, Encephalocele OMIM:200130
Cocaine Embryofetopathy
Thoracoabdominal eventration, Encephalocele ORPHA:1911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Death in infancy, Hydrocephalus, Optic nerve hypoplasia, Retinal... OMIM:614643
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Isolated Dandy-Walker Malformation
Encephalocele, Dandy-Walker malformation ORPHA:217
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Anencephaly, Microphthalmia, Omphalocele, Intrauterine growth retarda... OMIM:603194
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ventriculomegaly, Optic disc pallor, Hypoplasia of the iris, Hydrocephalus, Small pituitary gland... OMIM:614195
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Bazex Syndrome
Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Gastroschisis
Gastroschisis ORPHA:2368
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Downslanted palpebral fissures, Lateral ventricle dilatation, Dandy-Walker malformation, Optic ne... OMIM:618736
Frontofacionasal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Encephalocele, Blepharophimosis, Limbal dermoid, Ptosis, Upper... ORPHA:1791
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Epicanthus, Ptosis, Microphthalmia, Agene... OMIM:136760
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Fanconi Renotubular Syndrome 5
Pulmonary fibrosis, Lung adenocarcinoma, Emphysema OMIM:618913
Meckel Syndrome, Type 10
Dilated fourth ventricle, Epicanthus, Anencephaly, Narrow palpebral fissure, Ptosis, Occipital en... OMIM:614175
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Neu-Laxova Syndrome 2
Spina bifida, Intrauterine growth retardation, Ventriculomegaly, Ablepharon OMIM:616038
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Joubert Syndrome 7
Ptosis, Retinal dystrophy, Encephalocele OMIM:611560
Parietal Foramina 3
Encephalocele OMIM:609566
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Chorioretinal coloboma OMIM:611638
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Microphthalmia, Intrauterine growth retar... OMIM:611134
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Partial agenesis of the corpus callosum, Microphthal... OMIM:616171
Joubert Syndrome 8
Ptosis, Occipital encephalocele, Optic disc pallor, Pigmentary retinopathy OMIM:612291
Joubert Syndrome With Oculorenal Defect
Encephalocele, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Ptosis, Chorioretinal col... ORPHA:2318
Meckel Syndrome, Type 8
Microphthalmia, Occipital encephalocele, Encephalocele, Anophthalmia OMIM:613885
Parietal Foramina 2
Encephalocele OMIM:609597
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Ptosis, Highly arched eye... ORPHA:220493
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele OMIM:213010
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Pseudoprogeria Syndrome
Absent eyelashes, Sparse eyebrow, Absent eyebrow, Cranium bifidum occultum ORPHA:2985
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Optic atrophy, Hydrocephalus, Retinal dysplasia, Holoprosencephaly, Microphthalmia... OMIM:253800
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Encephalocele, Limbal dermoid ORPHA:398156
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Retinal dysplasia, Microphthalmia OMIM:615771
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Epicanthus, Anencephaly, Hydrocephalus, Holoprosen... ORPHA:1908
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Absent lacrimal punctum, Upper eyel... OMIM:167730
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation, Upslanted palpebral fissure, Tele... ORPHA:228390
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Anophthalmia Plus Syndrome
Spina bifida, Blepharophimosis, Eyelid coloboma, Anophthalmia ORPHA:1104
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Malignant mesothelioma, Subpleural honeycombing, Lung... ORPHA:2302
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Microphthalmia, Chorioretin... OMIM:251270
Pallister-Hall-Like Syndrome
Death in infancy, Anterior hypopituitarism, Hydrocephalus, Occipital encephalocele, Hypothalamic ... OMIM:241800
Adrenocortical Carcinoma
Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortical carcinoma... ORPHA:1501
Schisis Association
Spina bifida, Omphalocele, Anencephaly, Encephalocele ORPHA:63862
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Lower eyelid coloboma, Blepharophimosis, Absent eyelashes, Ankylobleph... OMIM:263650
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Downslanted palpebral fissures, Ventriculomegaly, Optic atrophy, Macular hypoplasia, Communicatin... OMIM:615219
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Hydrocephalus, Microphthalmia, Retinal coloboma OMIM:601794
Subependymal Nodular Heterotopia
Meningocele, Myelomeningocele, Partial agenesis of the corpus callosum, Occipital encephalocele, ... ORPHA:101030
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Gastroschisis ORPHA:2476
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Synophrys, Hydrocephalus, Semilobar holoprosenceph... OMIM:609637
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Jacobsen Syndrome
Optic atrophy, Epicanthus, Macular hypoplasia, Hydrocephalus, Ptosis, Holoprosencephaly, Eyelid c... OMIM:147791
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus, Abnormality of retinal pigmentation, Microphthalmia, Intrauterin... ORPHA:858
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Cryptophthalmos, Microphthalmia OMIM:123570
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Optic atrophy, Retinal atrophy, Agenesis of corpus callosum, Hydrocephalus, Men... OMIM:236670
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Hypoplasia of the pons, Abnormal midbrain morphology, Rhombencephalosyna... ORPHA:280195
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Intrauterine growth retardation, Agenesis of corpus callosum, Almond-shape... ORPHA:521308
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Encephalocele, Ventriculomegaly ORPHA:93274
Joubert Syndrome 18
Ventricular septal defect, Molar tooth sign on MRI, Arrhinencephaly, Occipital encephalocele, Age... OMIM:614815
Parietal Foramina 1
Encephalocele OMIM:168500
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Cofs Syndrome
Optic atrophy, Death in infancy, Abnormality of retinal pigmentation, Microphthalmia, Intrauterin... ORPHA:1466
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia OMIM:165600
Oculotrichoanal Syndrome
Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Microphthalmia, Nasolacrimal duct obstruction ORPHA:2717
Acromelic Frontonasal Dysplasia
Meningocele, Anterior pituitary hypoplasia, Encephalocele, Ventriculomegaly, Choroid plexus cyst,... ORPHA:1827
Microphthalmia, Isolated 8
Short palpebral fissure, Anophthalmia, Entropion, Hypoplastic optic chiasm, Optic nerve hypoplasi... OMIM:615113
Joubert Syndrome 2
Encephalocele, Retinal dystrophy, Hydrocephalus, Microphthalmia, Chorioretinal coloboma, Optic di... OMIM:608091
Cerebrooculonasal Syndrome
Sparse eyebrow, Encephalocele, Anophthalmia, Ventriculomegaly, Epicanthus, Hydrocephalus, Optic n... OMIM:605627
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventriculomegaly, Death in infancy, Microphthalmia, Optic disc pallor OMIM:613730
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Frontorhiny
Encephalocele, Cranium bifidum occultum, Epicanthus, Basal encephalocele, Hypopituitarism, Ptosis... ORPHA:391474
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Neu-Laxova Syndrome 1
Ventriculomegaly, Spina bifida, Short umbilical cord, Agenesis of corpus callosum, Choroid plexus... OMIM:256520
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Isolated Optic Nerve Hypoplasia/Aplasia
Ventriculomegaly, Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unila... ORPHA:137902
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Eyelid coloboma, Microphthalmia, Nasolacrimal duct obstruction, Omphalocele OMIM:248450
Halperin-Birk Syndrome
Ventriculomegaly, Optic atrophy, Agenesis of corpus callosum, Semilobar holoprosencephaly, Long e... OMIM:618651
Acromelic Frontonasal Dysostosis
Downslanted palpebral fissures, Encephalocele, Ventriculomegaly, Choroid plexus cyst, Hypopituita... OMIM:603671
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Agenesis of corpus callosum, Intrauterine growth retardation, Ventriculomegaly OMIM:616570
Knobloch Syndrome 1
Horizontal eyebrow, Ventriculomegaly, Peripapillary atrophy, Epicanthus, Occipital meningocele, M... OMIM:267750
Holoprosencephaly
Spinal dysraphism, Retinopathy, Optic atrophy, Epicanthus, Anterior hypopituitarism, Synophrys, H... ORPHA:2162
Knobloch Syndrome
Epicanthus, Macular degeneration, Hydrocephalus, Vitreoretinopathy, Retinal detachment, Occipital... ORPHA:1571
Proboscis Lateralis
Abnormal nasolacrimal system morphology, Abnormal location of the eyebrow, Abnormal eyebrow morph... ORPHA:141099
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Ptosis, Microphthalmia, Chorioretinal coloboma, Retinal detachment ORPHA:1473
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia OMIM:615181
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormality of the clitoris, Ambiguous genitalia, Gonadoblastoma, Bifid... ORPHA:325345
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Retinal detachment,... OMIM:613153
Dworschak-Punetha Neurodevelopmental Syndrome
Sparse lateral eyebrow, Optic disc hypoplasia, Ptosis, Peripheral axonal neuropathy, Dysplastic c... OMIM:619955
Coach Syndrome 1
Ptosis, Occipital encephalocele, Optic disc pallor, Encephalocele OMIM:216360
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Holoprosencephaly, Anterior encephalocele OMIM:601357
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Ventriculomegaly, Optic atrophy, Hydrocephalus, Long eyelashes, Re... OMIM:619833
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Ptosis, Highly arched eyebrow, Agenesis of c... ORPHA:220497
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy, Microphthalmia OMIM:267760
Fraser Syndrome 1
Cryptophthalmos, Myelomeningocele, Encephalocele, Anophthalmia, Absent eyelashes, Hydrocephalus, ... OMIM:219000
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Inguinal hernia, Ptosis, Chorioretinal coloboma, Occipital encephalocele, Optic di... ORPHA:1454
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Epicanthus,... ORPHA:397715
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:607616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Optic atrophy, Hydroceph... OMIM:613154
Griscelli Syndrome
Abnormal eyebrow morphology, Hydrocephalus, Encephalocele, Abnormal eyelash morphology ORPHA:381
Joubert Syndrome 10
Growth delay, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly, Microphthalmia, Upslanted palpebral fissure, Omp... OMIM:264480
Foveal Hypoplasia 2
Foveal hyperpigmentation, Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia OMIM:609218
Fraser Syndrome 3
Cryptophthalmos, Hydrocephalus, Stillbirth OMIM:617667
Pai Syndrome
Downslanted palpebral fissures, Encephalocele, Telecanthus ORPHA:1993
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Ptosis, Downslanted palpebral fissures, Eyelid coloboma OMIM:268850
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Legius Syndrome
Nephroblastoma, Multiple lipomas, Ovarian neoplasm, Neoplasm of the central nervous system, Neuro... ORPHA:137605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Hydrocephalus, Microphthalmia, Facial palsy OMIM:613155
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Microphthalmia OMIM:611561
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Hydrocephalus, Ptosis, Highly arched eyebrow ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Ventriculomegaly, Death in infancy, Hydrocephalus, Buphthalmos, Microphthalmia, Ag... OMIM:613150
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly OMIM:614019
Perlman Syndrome
Nephroblastoma, Hypoplasia of penis, Capillary hemangioma, Hepatomegaly, Cryptorchidism, Abnormal... ORPHA:2849
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Adams-Oliver Syndrome 2
Optic atrophy, Lateral ventricle dilatation, Hydrocephalus, Narrow palpebral fissure, Microphthalmia OMIM:614219
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Short stature, Abnormal brainstem morphology, Hydrocephalus, Cere... ORPHA:1532
Barber-Say Syndrome
Aplasia/Hypoplasia of the eyebrow, Ablepharon, Ectropion, Telecanthus, Sparse or absent eyelashes ORPHA:1231
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hydrocephalus, Limbal dermoid, Dandy-Walker malformation, Eyelid coloboma... OMIM:613001
Joubert Syndrome 21
Ptosis, Occipital encephalocele, Retinopathy, Anophthalmia OMIM:615636
Frontonasal Dysplasia 3
Sparse eyelashes, Upper eyelid coloboma, Absent eyebrow, Microphthalmia OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating hydrocephalus,... OMIM:615287
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Frontonasal Dysplasia 2
Short palpebral fissure, Sparse eyebrow, Encephalocele, Blepharophimosis, Microphthalmia, Intraut... OMIM:613451
Opsoclonus-Myoclonus Syndrome
Breast carcinoma, Melanoma, Small cell lung carcinoma, Neoplasm, Ovarian teratoma, Neuroblastoma,... ORPHA:1183
Acrofacial Dysostosis, Cincinnati Type
Downslanted palpebral fissures, Lower eyelid coloboma, Upper eyelid coloboma, Ablepharon OMIM:616462
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:618939
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Optic atrophy, Ptosis, Microphthalmia, Agenesis of corpus callosum OMIM:600118
Cat-Eye Syndrome
Microphthalmia, Downslanted palpebral fissures, Intrauterine growth retardation, Chorioretinal co... ORPHA:195
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Ptosis, Eyelid coloboma, Dandy-Walker malformation ORPHA:1647
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Eyelid coloboma, Microphthalmia, Chorioretinal coloboma, Agenesis of corpus callosum ORPHA:268249
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Gastroschisis, Hyd... ORPHA:63259
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Neonatal death, Int... ORPHA:85284
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Cranium bifidum occultum, Blepharophimosis, Ankyloblepharon, Ptosis,... OMIM:229400
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Short stature ORPHA:166024
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Epicanthus, Retinal dystrophy, Pt... OMIM:608629
Lambert-Eaton Myasthenic Syndrome
Xerostomia, Hypohidrosis, Impotence, Small cell lung carcinoma ORPHA:43393
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Fryns Microphthalmia Syndrome
Abnormality of the ear, Macrotia, Neural tube defect OMIM:600776
Constricting Bands, Congenital
Encephalocele, Gastroschisis, Eyelid coloboma, Bladder exstrophy, Omphalocele OMIM:217100
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Microphthalmia, Syndromic 13
Ptosis, Microphthalmia, Chorioretinal coloboma OMIM:300915
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Momo Syndrome
Downslanted palpebral fissures, Eyelid coloboma, Retinal coloboma, Epicanthus OMIM:157980
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Duplication Of The Pituitary Gland
Encephalocele, Abnormal hypothalamus morphology, Abnormality of the pituitary gland, Congenital s... ORPHA:314621
Fraser Syndrome
Cryptophthalmos, Myelomeningocele, Encephalocele, Anophthalmia, Death in infancy, Lacrimal duct a... ORPHA:2052
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Anophthalmia, Epicanthus, Long eyelashes, Microphthalmia OMIM:615877
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Band Heterotopia
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Meckel Syndrome
Encephalocele, Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Anencephaly, Hydrocep... ORPHA:564
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
46,Xx Sex Reversal 4
Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ... OMIM:617480
Ablepharon Macrostomia Syndrome
Cryptophthalmos, Absent eyelashes, Ablepharon, Absent eyebrow, Omphalocele, Umbilical hernia ORPHA:920
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Intrauterine growth retardation ORPHA:488635
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Orbital cyst OMIM:251505
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Intrauterine growth retardation OMIM:615665
African Iron Overload
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Hepatocellular carcinoma, Hepa... ORPHA:139507
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Burn-Mckeown Syndrome
Short palpebral fissure, Inguinal hernia, Blepharophimosis, Lower eyelid coloboma OMIM:608572
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Ventriculomegaly, Motor axonal neuropathy, Long eyela... ORPHA:48431
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Death in childhood,... OMIM:619517
Arachnoid Cyst
Encephalocele, Cranial nerve compression, Hydrocephalus, Ptosis, Holoprosencephaly, Enlarged foss... ORPHA:2356
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Momo Syndrome
Downslanted palpebral fissures, Epicanthus, Bilateral microphthalmos, Eyelid coloboma, Chorioreti... ORPHA:2563
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele, Pterygium, Miscarriage ORPHA:1865
Cancer-Associated Retinopathy
Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ... ORPHA:71505
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Downslanted palpebral fissures, Ventriculomegaly, Epicanthus, Hydrocephalus, Microphthalmia OMIM:602501
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Epicanthus, Anencephaly, Dandy-Walker malformation, Microphthalmia, Agenesis of co... OMIM:619148
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of eyelid, In... OMIM:619321
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Congenital sensorineural hearing impairment, Facial palsy ORPHA:3456
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele, Shallow orbits OMIM:224400
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Pagod Syndrome
Meningocele, Encephalocele, Optic atrophy, Death in infancy, Spina bifida, Omphalocele ORPHA:991
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Gombo Syndrome
Microphthalmia OMIM:233270
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Abnormal lung lobation, Pulmonary hypoplasia, Overfolded helix ORPHA:2631
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Cranium bifidum occultum, Epicanthus, Ptosis, Eyelid coloboma, Microphthalmia, Sp... ORPHA:306542
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Downslanted palpebral fissures, Lateral ventricle dilatation, Epicanthus, Retinal pigment epithel... OMIM:614105
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Downslanted palpebral fissures, Retinal fold, Optic atrophy, Epicanthus, Microphthalmia, Choriore... OMIM:152950
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Neonatal death, Pterygium OMIM:224410
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele, Microphthalmia ORPHA:974
Joubert Syndrome 39
Retinal dystrophy, Occipital encephalocele OMIM:619562
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Microphthalmia, Anophthalmia ORPHA:85275
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Sparse eyebrow, Encephalocele, Microphthalmia, Stillbirth, Omphalocele, Dandy-Walker malformation OMIM:616300
Pentalogy Of Cantrell
Omphalocele, Anencephaly, Hydrocephalus, Encephalocele ORPHA:1335
Triopia
Blepharophimosis, Abnormal eyebrow morphology, Encephalocele ORPHA:3374
Malan Overgrowth Syndrome
Downslanted palpebral fissures, Ventriculomegaly, Lateral ventricle dilatation, Optic disc hypopl... ORPHA:420179
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Ventriculomegaly, Optic nerve aplasia, Remnants of the hyaloid vascular sy... OMIM:120200
Aicardi Syndrome
Dilated third ventricle, Sparse lateral eyebrow, Lateral ventricle dilatation, Optic atrophy, Spi... OMIM:304050
Walker-Warburg Syndrome
Anophthalmia, Ventriculomegaly, Optic atrophy, Agenesis of corpus callosum, Hydrocephalus, Retina... ORPHA:899
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Ptosis, Thick eyebrow OMIM:619736
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Congenital Primary Aphakia
Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, ... ORPHA:83461
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly, Microphthalmia, Omphalocele, Umbilical hernia ORPHA:2166
Duodenal Atresia
Abnormality of the pancreas, Abnormality of the pulmonary artery, Annular pancreas ORPHA:1203
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Chorioretinal coloboma OMIM:120433
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Rere-Related Neurodevelopmental Syndrome
Ventriculomegaly, Optic atrophy, Epicanthus, Blepharophimosis, Broad eyebrow, Ptosis, Microphthal... ORPHA:494344
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Microphthalmia, Epicanthus ORPHA:2528
Knobloch Syndrome 2
Retinal detachment, Vitreous floaters, Encephalocele, Vitreoretinopathy OMIM:618458
Jacobsen Syndrome
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ventriculomegaly, Death in inf... ORPHA:2308
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Retinal degeneration, Hydrocephalus, Microphthalmia, Agenesis of corpus c... OMIM:615249
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse ... ORPHA:1234
Craniosynostosis 6
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Ptosis, Agenesis o... OMIM:616602
Baraitser-Winter Syndrome 2
Ventriculomegaly, Long palpebral fissure, Ptosis, Microphthalmia, Highly arched eyebrow, Telecant... OMIM:614583
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Downslanted palpebral fissures, Exencephaly, Encephalocele, Ptosis, Eyelid coloboma ORPHA:2211
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on MRI, Dandy-Walker malforma... OMIM:617622
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia ORPHA:141333
Slc35A2-Cdg
Short stature, Abnormal midbrain morphology, Abnormal heart morphology, Cerebellar atrophy, Tetra... ORPHA:356961
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Ablepharon-Macrostomia Syndrome
Cryptophthalmos, Ventral hernia, Absent eyelashes, Ablepharon, Absent eyebrow, Hypoplasia of eyel... OMIM:200110
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Abnormal conjunctiva morphology, Epicanthus, Blepharophimosis, Aganglion... ORPHA:3339
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Microphthalmia, In... OMIM:609053
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... ORPHA:650
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion of lower eyelids, Eyelid coloboma ORPHA:246
Charge Syndrome
Aqueductal stenosis, Anophthalmia, Epicanthus, Optic atrophy, Anterior hypopituitarism, Ptosis, H... ORPHA:138
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619111
Microcephaly 20, Primary, Autosomal Recessive
Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia, Intrauterine growth retardation, Agenesi... OMIM:617914
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation, Synophrys, Long palpebral fissure, Highly... OMIM:617751
Otopalatodigital Syndrome Type 2
Downslanted palpebral fissures, Myelomeningocele, Encephalocele, Hydrocephalus, Omphalocele ORPHA:90652
Joubert Syndrome 5
Ptosis, Occipital encephalocele, Rod-cone dystrophy, Retinal coloboma OMIM:610188
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Omphalocele, Pulmonary hypoplasia OMIM:601163
Acrofrontofacionasal Dysostosis
Downslanted palpebral fissures, Ptosis, Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma ORPHA:1784
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Pleural effusion, Exocrine pancreatic insufficie... OMIM:167800
Vacterl With Hydrocephalus
Anophthalmia, Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Inguinal hernia,... ORPHA:3412
Cach Syndrome
Optic atrophy, Lateral ventricle dilatation, T2 hypointense thalamus, Optic neuritis, Intrauterin... ORPHA:135
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Temtamy Syndrome
Telecanthus, Microphthalmia, Chorioretinal coloboma ORPHA:1777
Temtamy Syndrome
Downslanted palpebral fissures, Ventriculomegaly, Microphthalmia, Chorioretinal coloboma, Highly ... OMIM:218340
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Microphthalmia, Subretinal fluid ORPHA:209956
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Microphthalmia, Retinal coloboma ORPHA:363741
Pierpont Syndrome
Telecanthus, Narrow palpebral fissure, Microphthalmia, Ventriculomegaly ORPHA:487825
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... OMIM:193220
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline OMIM:603471
Oculoectodermal Syndrome
Epicanthus, Pineal cyst, Limbal dermoid, Eyelid coloboma, Chorioretinal atrophy, Bladder exstrophy OMIM:600268
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Optic disc coloboma, Microphthalmia OMIM:169550
Pierpont Syndrome
Unilateral narrow palpebral fissure, Blepharophimosis, Narrow palpebral fissure, Abnormal periphe... OMIM:602342
Pendred Syndrome
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:274600
Limb Body Wall Complex
Abdominal wall defect, Ventral hernia, Myelomeningocele, Encephalocele, Diastasis recti, Spina bi... ORPHA:2369
Baraitser-Winter Syndrome 1
Ventriculomegaly, Epicanthus, Long palpebral fissure, Ptosis, Microphthalmia, Chorioretinal colob... OMIM:243310
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Macular atrophy, Buphthalmos, Microphthalmia, Chorioretinal coloboma, Retinal ... OMIM:212550
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Abnormal eyelid morphology, Umbilical hernia ORPHA:2095
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Pulmonary hypop... ORPHA:2470
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Death in infancy OMIM:618266
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Upslanted palpebral fissure, Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilata... OMIM:613443
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Vacterl/Vater Association
Omphalocele, Occipital encephalocele, Anencephaly, Intrauterine growth retardation ORPHA:887
Alg2-Cdg
Downslanted palpebral fissures, Lateral ventricle dilatation, Epicanthus ORPHA:79326
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Exudative retinopathy, Microphthalmia, Retinal detachment, Abnormal ... ORPHA:2788
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Joubert Syndrome 6
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superio... OMIM:610688
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology ORPHA:99852
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... OMIM:615947
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Epicanthus, Inguinal hernia, Microphthalmia, Umbilical hernia ORPHA:2505
Orofaciodigital Syndrome Xiv
Retinitis, Holoprosencephaly, Partial agenesis of the corpus callosum, Upslanted palpebral fissur... OMIM:615948
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Cone/cone-rod dystrophy, Macular hypoplasia, Retinal d... OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia OMIM:616538
Dermatomyositis
Lymphoma, Breast carcinoma, Abnormal pulmonary interstitial morphology, Lung adenocarcinoma, Neop... ORPHA:221
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Pulmonary hypoplasia ORPHA:2141
Meckel Syndrome, Type 1
Dilated fourth ventricle, Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callos... OMIM:249000
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Nager Syndrome
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis, Sparse lower eyelashes... ORPHA:245
Helsmoortel-Van Der Aa Syndrome
Short palpebral fissure, Downslanted palpebral fissures, Decreased response to growth hormone sti... OMIM:615873
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Igg4-Related Thyroid Disease
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Thyroiditis, Th... ORPHA:64744
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Lens coloboma, Inguinal hernia, Microphthalmia, Umbilical hernia OMIM:618914
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis, Microphthalmia, Retinal detachment, Macular coloboma OMIM:615145
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Treacher-Collins Syndrome
Downslanted palpebral fissures, Blepharospasm, Encephalocele, Absent eyelashes, Eyelid coloboma, ... ORPHA:861
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis, Lateral ventricle dilatation OMIM:619972
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Lateral ventricle dilatation ORPHA:77299
Fraser Syndrome 2
Cryptophthalmos OMIM:617666
2Q24 Microdeletion Syndrome
Downslanted palpebral fissures, Microphthalmia ORPHA:1617
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ... OMIM:617296
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Ptosis, Colpocephaly OMIM:618731
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Weiss-Kruszka Syndrome
Downslanted palpebral fissures, Ventriculomegaly, Epicanthus, Ptosis, Highly arched eyebrow, Agen... OMIM:618619
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Chromosome 6Q24-Q25 Deletion Syndrome
Short palpebral fissure, Hooded eyelid, Medial flaring of the eyebrow, Lateral ventricle dilatati... OMIM:612863
Curry-Jones Syndrome
Agenesis of corpus callosum, Optic disc coloboma, Microphthalmia, Ventriculomegaly ORPHA:1553
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly, Microphthalmia OMIM:619879
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Abnormality of r... ORPHA:290
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Optic atrophy, Dandy-Walker malformation, Lateral ventricle dilatation ORPHA:3078
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Optic atrophy, Lateral ventricle dilatation, Death in infancy, Hydroceph... OMIM:612301
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Downslanted palpebral fissures, Abnormality of thalamus morphology, Normal pressure hydrocephalus... ORPHA:300570
Hydrolethalus
Anophthalmia, Anencephaly, Arrhinencephaly, Hydrocephalus, Microphthalmia, Agenesis of corpus cal... ORPHA:2189
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Lower eyelid coloboma OMIM:616367
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... OMIM:267700
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231183
Sandestig-Stefanova Syndrome
Ventriculomegaly, Epicanthus, Sparse medial eyebrow, Laterally extended eyebrow, Microphthalmia, ... OMIM:618804
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Spondylo-Ocular Syndrome
Retinal detachment, Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:614833
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Downslanted palpebral fissures, Dilated third ventricle, Sparse eyebrow, Lateral ventricle dilata... ORPHA:544488
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Global Developmental Delay With Or Without Impaired Intellectual Development
Long palpebral fissure, Lateral ventricle dilatation OMIM:618330
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy OMIM:207950
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Temple Syndrome