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Gene: Prmt3 MGI:1919224

Gene Summary

Name:

protein arginine N-methyltransferase 3

Synonyms:

2010005E20Rik, Hrmt1l3, 2410018A17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	Ambiguous
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	Not available
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	Not available
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	Not available
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	Not available
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

4 Images

View images

Legacy Phenotype Associated Images

Prmt3^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

Prmt3^{tm1a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

Prmt3^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Prmt3^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

Prmt3^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

View all 163 images

Prmt3^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Prmt3^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

View all 6 images

Prmt3^{tm1a(EUCOMM)Wtsi}
eye, narrow eye opening, HOM, Male, WTSI

Prmt3^{tm1a(EUCOMM)Wtsi}
eye, corneal opacity, HET, Female, WTSI

Prmt3^{tm1a(EUCOMM)Wtsi}
eye, narrow eye opening, corneal opacity, HOM, Female, WTSI

Prmt3^{tm1a(EUCOMM)Wtsi}
abnormal snout morphology, abnormal head shape, HOM, Male, WTSI

Human diseases caused by Prmt3 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.

Human diseases associated with Prmt3 (0 diseases)
Human diseases predicted to be associated with Prmt3 (759 diseases)

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

The table below shows human diseases predicted to be associated to Prmt3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertrophic Neuropathy And Cataract	Cataract, Increased CSF protein concentration	OMIM:239900
Winchester Syndrome	Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity	OMIM:277950
Bilateral Striopallidodentate Calcinosis	Ventriculomegaly, Thrombocytopenia, Corneal opacity	ORPHA:1980
Peroxisome Biogenesis Disorder 10A (Zellweger)	Epicanthus, Epiphyseal stippling, Cataract, Downslanted palpebral fissures	OMIM:614882
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Microcornea, Corneal opacity	ORPHA:2432
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Gómez-López-Hernández Syndrome	Telecanthus, Hydrocephalus, Corneal opacity	ORPHA:1532
Kleeblattschaedel	Recurrent corneal erosions, Craniosynostosis, Elbow ankylosis, Hydrocephalus	OMIM:148800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density, Corneal opacity, Acne	ORPHA:577
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Galactosialidosis	Corneal opacity	ORPHA:351
Pineocytoma	Increased CSF protein concentration, Abnormal eyelid morphology, Hydrocephalus	ORPHA:251912
1Q21.1 Microduplication Syndrome	Hydrocephalus, Cataract, Arthrogryposis multiplex congenita, Failure to thrive	ORPHA:250994
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Orbital craniosynostosis, Dandy-Walker malformation	ORPHA:1538
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Corneal opacity	ORPHA:2370
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Conjunctival dermolipoma, Corneal...	OMIM:180550
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Decreased body weight, Reduced bone mineral density, Small for gestational age, Delayed...	OMIM:618392
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Ptosis, Corneal opacity, Iris coloboma	ORPHA:1473
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Periodontitis, Hydrocephalus	ORPHA:1008
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Infantile Sialic Acid Storage Disease	Osteopenia, Failure to thrive, Splenomegaly, Epicanthus, Ptosis, Hydrocephalus, Vacuolated lympho...	OMIM:269920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Morquio Syndrome C	Corneal opacity	OMIM:252300
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Hydrocephalus, Autosomal Dominant	Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Corneal Dystrophy, Reis-Bucklers Type	Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal...	OMIM:608470
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Ophthalmomandibulomelic Dysplasia	Synostosis of carpal bones, Limitation of joint mobility, Camptodactyly of finger, Megalocornea, ...	ORPHA:2741
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Flynn-Aird Syndrome	Cataract, Increased CSF protein concentration, Joint stiffness, Increased bone density with cysti...	OMIM:136300
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ...	OMIM:602562
Brachyolmia Type 1, Hobaek Type	Osteopenia, Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Atypical Teratoid Rhabdoid Tumor	Limitation of joint mobility, Hydrocephalus	ORPHA:99966
Erythrokeratodermia Variabilis	Cataract, Weight loss, Skin rash, Corneal opacity	ORPHA:317
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Sialidosis Type 2	Osteoporosis, Flexion contracture, Splenomegaly, Corneal opacity	ORPHA:87876
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Osteolysis involving...	OMIM:166300
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia	OMIM:166990
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Alpha-Mannosidosis	Synostosis of joints, Cataract, Craniofacial hyperostosis, Splenomegaly, Arthritis, Corneal opaci...	ORPHA:61
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Small for gestational age, Generalized bone demineralization...	OMIM:215250
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Ocular anterior segment dysgenesis, Dev...	ORPHA:324416
Metatropic Dysplasia	Cataract, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly o...	ORPHA:2635
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Telecanthus, Corneal opacity, Craniosynostosis, Communicating hydrocephalus, Developmen...	ORPHA:1064
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Congenital Hydrocephalus	Ventriculomegaly, Downslanted palpebral fissures, Colpocephaly, Hydrocephalus, Iris coloboma	ORPHA:2185
Limbal Stem Cell Deficiency	Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s...	ORPHA:171673
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Flexion contracture, Developmental cataract, Corneal opacity	OMIM:618815
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Downslanted palpebral fissures, Upslanted palpebral fi...	OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Ventriculomegaly, Hydrocephalus, Corneal opacity, Dandy-Walker malformation	OMIM:613153
Al-Gazali Syndrome	Osteopenia, Recurrent pneumonia, Failure to thrive, Recurrent fractures, Wrist flexion contractur...	OMIM:609465
Congenital Rubella Syndrome	Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Skin rash, Thrombocytopenia, Corneal opac...	ORPHA:290
Methylmalonic Acidemia With Homocystinuria	Skin rash, Hydrocephalus, Failure to thrive	ORPHA:26
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy	OMIM:217800
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid...	ORPHA:1794
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Hurler-Scheie Syndrome	Rhinitis, Limitation of joint mobility, Splenomegaly, Corneal opacity	ORPHA:93476
Biemond Syndrome Ii	Iris coloboma, Hydrocephalus	OMIM:210350
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Corneal opacity, Osteopor...	ORPHA:2788
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss of eyelash...	ORPHA:163934
Alpha-Mannosidosis, Adult Form	Pneumonia, Cataract, Osteopenia, Hepatosplenomegaly, Pancytopenia, Corneal opacity	ORPHA:309288
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Martsolf Syndrome 2	Cataract, Lateral ventricle dilatation, Camptodactyly of finger, Decreased body weight, Developme...	OMIM:619420
Intellectual Developmental Disorder, Autosomal Recessive 68	Broad eyebrow, Hydrocephalus, Narrow palpebral fissure, Small for gestational age, Synophrys	OMIM:618302
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Chudley-Mccullough Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:604213
Pontocerebellar Hypoplasia, Type 15	Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly, Neonatal death	OMIM:273680
Nasu-Hakola Disease	Ventriculomegaly, Acute leukemia, Limitation of joint mobility, Bone cyst, Hydrocephalus, Reduced...	ORPHA:2770
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Downslanted palpebral fissures, Joint hypermobility, Epicanthus, Hydrocephalus,...	OMIM:602501
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 112	Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Increased T cell count, Dec...	OMIM:620449
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventriculomegaly, Downslanted palpebral fissures, Leukopenia, Telecanthus, Astigmatism, Thrombocy...	OMIM:301056
Harel-Yoon Syndrome	Upslanted palpebral fissure, Developmental cataract, Corneal opacity	OMIM:617183
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Multiple Sulfatase Deficiency	Cataract, Joint stiffness, Thick eyebrow, Splenomegaly, Hydrocephalus, Corneal opacity	ORPHA:585
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa...	OMIM:259710
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Developmental And Epileptic Encephalopathy 36	Flexion contracture, Hydrocephalus	OMIM:300884
Leukodystrophy, Hypomyelinating, 24	Cataract, Flexion contracture, Ventriculomegaly, B lymphocytopenia	OMIM:619851
Mucolipidosis Iv	Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract	OMIM:618660
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Dermatitis, Atopic	Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Conjunctiviti...	OMIM:603165
Short Syndrome	Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil morphology, Joint hypermobility...	ORPHA:3163
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Joint hypermobility, Keratoglobus, Sclerocornea, ...	OMIM:614170
Bartsocas-Papas Syndrome	Synostosis of joints, Popliteal pterygium, Ankyloblepharon, Sparse or absent eyelashes, Eyelid co...	ORPHA:1234
Intellectual Developmental Disorder, Autosomal Dominant 70	Highly arched eyebrow, Short palpebral fissure, Cataract, Failure to thrive, Downslanted palpebra...	OMIM:620157
Lowry-Maclean Syndrome	Osteopenia, Megalocornea, Downslanted palpebral fissures, Hydrocephalus, Corneal opacity, Osteopo...	ORPHA:2409
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Ventriculomegaly, Neutropenia, Downslanted palpebral fissures	ORPHA:2643
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Posterior embryotoxon, Hydrocephalus, Narrow palpebral fissure, Dandy-W...	OMIM:220220
Proteus-Like Syndrome	Cataract, Thymus hyperplasia, Downslanted palpebral fissures, Abnormal pupil morphology, Hyperost...	ORPHA:2969
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Bartsocas-Papas Syndrome 2	Axillary pterygium, Ankyloblepharon, Popliteal pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Epicanthus, Craniosynostosis, Hydrocephalus, Downslanted palpebral fissures	ORPHA:1516
Wilson Disease	Failure to thrive, Kayser-Fleischer ring, Hepatitis, Pathologic fracture, Acute hepatitis, Spleno...	ORPHA:905
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Corneal opacity, Blepharitis	OMIM:602400
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Flexion contracture	ORPHA:272
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Eczematoid dermatitis, Downslanted palpebral fissures, Camptodac...	ORPHA:284160
Alexander Disease	Increased CSF protein concentration, Microcoria, Hydrocephalus	OMIM:203450
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Generalized osteosclerosi...	ORPHA:53
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture...	OMIM:259700
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Cataract, Reduced bone mineral density, Recurrent fractures	ORPHA:2410
Griscelli Syndrome	Iris hypopigmentation, Hepatitis, Abnormal eyebrow morphology, Leukopenia, Splenomegaly, Encephal...	ORPHA:381
Nasopalpebral Lipoma-Coloboma Syndrome	Hamartoma of the orbital region, Sparse eyebrow, Cataract, Lacrimal punctal atresia, Telecanthus,...	ORPHA:2399
Mucolipidosis Type Iii Alpha/Beta	Recurrent otitis media, Joint stiffness, Epicanthus, Corneal opacity, Generalized osteoporosis, F...	ORPHA:423461
Lissencephaly 5	Cataract, Occipital encephalocele, Hydrocephalus	OMIM:615191
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Cataract, Acrocyanosis, Corneal opacity	ORPHA:1867
Zellweger Syndrome	Cataract, Failure to thrive, Epiphyseal stippling, Upslanted palpebral fissure, Epicanthus, Poste...	ORPHA:912
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Edinburgh Malformation Syndrome	Failure to thrive, Joint stiffness, Hydrocephalus, Brushfield spots, Synophrys	ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Flexion contracture, Hydrocephalus, Developmental cataract	OMIM:613155
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cataract, Ventriculomegaly, Failure to thrive, Long eyelashes, Thick eyebrow, Upslanted palpebral...	OMIM:619833
Linear Verrucous Nevus Syndrome	Cataract, Iris coloboma, Abnormal cornea morphology, Ventriculomegaly, Reduced bone mineral densi...	ORPHA:2611
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Obesity, Hydrocephalus	OMIM:601794
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, Hypochromic anemia, Ocular albinism, Hydrocephalus, Abnormality ...	ORPHA:2720
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus, Astigmatism	OMIM:248000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Abnormally prominent line of Schwalbe, Telecanthus, Rieger anomaly, Hydrocephal...	OMIM:109120
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Eyelid coloboma, Ptosis, Hydrocephalus, Corneal opacity, Iris coloboma, Dandy-W...	ORPHA:1647
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Long palpebral fissure, Highly arched eyebrow, Ptosis, Corneal opacity	OMIM:620469
Crouzon Syndrome	Multiple suture craniosynostosis, Ptosis, Hydrocephalus, Conjunctivitis, Iris coloboma	ORPHA:207
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Cataract, Epiphyseal stippling, Hydrocephalus	ORPHA:1914
Congenital Toxoplasmosis	Ventriculomegaly, Failure to thrive in infancy, Hydrocephalus, Thrombocytopenia, Anemia	ORPHA:858
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Hepatosplenomegaly, Pancytopenia, Splenomegaly, CSF lymphocytic pleiocytosis, H...	OMIM:610333
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Corneal opacity	ORPHA:281090
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Corneal opacity	OMIM:618961
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Abnormal proportion of naive CD4 T cells, Failure to thrive, L...	ORPHA:1830
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma, Precocious costochondral ossification	OMIM:271630
Chromosome 6Pter-P24 Deletion Syndrome	Short palpebral fissure, Peters anomaly, Downslanted palpebral fissures, Telecanthus, Axenfeld an...	OMIM:612582
Diencephalic Syndrome	Cachexia, Hydrocephalus, Decreased body weight	ORPHA:1672
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Elbow flexion contracture, Hydrocephalus	OMIM:619470
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Inflammation of the large intestine, Failure to thrive, Eczematoid dermatitis, Chroni...	ORPHA:98813
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus, Joint hypermobility	OMIM:236660
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Upslanted palpebral fissure, Corneal opacity	ORPHA:496790
Hurler Syndrome	Cranial hyperostosis, Bilateral ptosis, Calvarial hyperostosis, Recurrent otitis media, Hepatospl...	OMIM:607014
Greig Cephalopolysyndactyly Syndrome	Keratoconus, Joint contracture of the hand, Ventriculomegaly, Downslanted palpebral fissures, Cam...	OMIM:175700
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Rheumatoid arthritis, Band keratopathy, Failure to thrive, Joint hypermobility, Knee os...	ORPHA:85410
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Decreased body weight, Shallow orbits, Osteopetrosis, Iris transilluminati...	OMIM:617306
Farber Disease	Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia, Arthritis, Flex...	ORPHA:333
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Scheie Syndrome	Limitation of joint mobility, Joint stiffness, Splenomegaly, Corneal opacity, Rhinitis	ORPHA:93474
Frontofacionasal Dysplasia	Iris coloboma, Microcornea, Cataract, Telecanthus, Absent inner eyelashes, Encephalocele, Upper e...	ORPHA:1791
Mietens Syndrome	Cataract, Microcornea, Joint stiffness, Elbow ankylosis, Corneal opacity, Sclerocornea	ORPHA:2557
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Masa Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:303350
Tenorio Syndrome	Osteopenia, Ventriculomegaly, Recurrent pneumonia, Telecanthus, Thick eyebrow, Recurrent aphthous...	OMIM:616260
Alpha-Mannosidosis, Infantile Form	Pneumonia, Highly arched eyebrow, Cataract, Osteopenia, Cranial hyperostosis, Hepatosplenomegaly,...	ORPHA:309282
Greig Cephalopolysyndactyly Syndrome	Craniosynostosis, Telecanthus, Hydrocephalus	ORPHA:380
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Sjogren-Larsson Syndrome	Flexion contracture, Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Horizontal eyebrow, Failure to thrive, Long eyelashes, Hydrocephalus, Chronic o...	OMIM:609757
Congenital Syphilis	Pneumonia, Cataract, Periostitis, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Sy...	ORPHA:499009
Osteopetrosis, Autosomal Recessive 5	Mydriasis, Ventriculomegaly, Stillbirth, Extramedullary hematopoiesis, Cranial hyperostosis, Hepa...	OMIM:259720
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly, Long eyelashes, Unilambdoid synostosis	OMIM:618577
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Ectopia lentis, Limitation of joint mobility, Encephalocele, Shall...	OMIM:224400
Wagro Syndrome	Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Ptosis, Corneal opacity	OMIM:612469
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Shallow orbits, Hydrocephalus, Co...	OMIM:112240
Rabin-Pappas Syndrome	Highly arched eyebrow, Short palpebral fissure, Cataract, Tracheomalacia, Downslanted palpebral f...	OMIM:620155
Distal Deletion 6P	Ventriculomegaly, Ectopia pupillae, Hypoplasia of the iris, Downslanted palpebral fissures, Epica...	ORPHA:96125
3Q29 Microduplication Syndrome	Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Camptodactyly of toe, Sclerocornea, ...	ORPHA:251038
Cystinosis	Rickets, Failure to thrive, Corneal opacity	ORPHA:213
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Splenomegaly, Hydrocephalus, Corneal opacity	OMIM:272200
Gm1-Gangliosidosis, Type Iii	Ventriculomegaly, Opacification of the corneal stroma, Splenomegaly	OMIM:230650
Congenital Sialidosis Type 2	Cataract, Hepatosplenomegaly, Hydrocephalus, Developmental cataract, Corneal opacity	ORPHA:93400
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Ankle flexion contracture, Ankylosis of feet small joints, Carpal osteolysis, Periphe...	OMIM:259600
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Microphthalmia/Coloboma 9	Microcornea, Ptosis, Ocular anterior segment dysgenesis, Narrow palpebral fissure, Sclerocornea, ...	OMIM:615145
Temple Syndrome	Recurrent otitis media, Obesity, Joint hypermobility, Hydrocephalus, Truncal obesity, Flexion con...	OMIM:616222
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Abnormal eyelid morphology, Hydrocephalus	ORPHA:251915
Gracile Bone Dysplasia	Failure to thrive, Aniridia, Decreased skull ossification, Hydrocephalus, Asplenia, Hypoplastic s...	OMIM:602361
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ventriculomegaly, Band keratopathy, Hypoplasia of the iris, Hydrocephalus, Ocular anterior segmen...	OMIM:614195
Fried Syndrome	Hydrocephalus	ORPHA:85335
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic ...	ORPHA:2169
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Limitation of joint mobility, Ocular albinism, Ectropion, Cornea...	ORPHA:2719
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Obesity, Radioulnar synostosis, Hydrocephalus, Blepharophimosis, Craniosynostosis	ORPHA:171839
Walker-Warburg Syndrome	Cataract, Microcornea, Ventriculomegaly, Hydrocephalus, Corneal opacity, Iris coloboma, Dandy-Wal...	ORPHA:899
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Interstitial pneumonitis, Enterocolitis, Decreased proportion of class-switched memory ...	OMIM:614878
Sialidosis Type 1	Cataract, Splenomegaly, Corneal opacity	ORPHA:812
Mucopolysaccharidosis Type 7	Hepatitis, Joint stiffness, Epiphyseal stippling, Splenomegaly, Corneal opacity	ORPHA:584
Cutis Laxa, Autosomal Dominant 3	Joint hypermobility, Osteopenia, Developmental cataract, Corneal opacity	OMIM:616603
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Muscle-Eye-Brain Disease	Cataract, Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Corneal neovascu...	OMIM:617388
H Syndrome	Corneal arcus, Bronchiectasis, Osteolysis, Microcytic anemia, Abnormal eyebrow morphology, Hepato...	ORPHA:168569
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Failure to thrive, Increased CSF lactate, Increased CSF lysine concentration, C...	OMIM:616034
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Generalized Eruptive Keratoacanthoma	Ectropion, Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology	ORPHA:411777
Gm1 Gangliosidosis	Coarse metaphyseal trabecularization, Failure to thrive, Camptodactyly of finger, Aspiration pneu...	ORPHA:354
Adams-Oliver Syndrome 2	Hydrocephalus, Developmental cataract, Lateral ventricle dilatation, Narrow palpebral fissure	OMIM:614219
Mucopolysaccharidosis, Type Vii	Limitation of joint mobility, Recurrent otitis media, Joint stiffness, Thick eyebrow, Splenomegal...	OMIM:253220
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Keratitis, Shallow orbits, Sagittal cranio...	OMIM:123500
Microphthalmia, Syndromic 16	Sclerocornea, Ankyloblepharon	OMIM:611038
Craniotelencephalic Dysplasia	Craniosynostosis, Hydrocephalus, Frontal encephalocele	ORPHA:1528
Fish-Eye Disease	Splenomegaly, Corneal opacity	ORPHA:79292
Pseudo-Torch Syndrome 1	Cataract, Ventriculomegaly, Increased CSF protein concentration, Failure to thrive, Splenomegaly,...	OMIM:251290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Hydrocephalus	OMIM:615181
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Delayed pubic bone ossification, Hydrocephalus, Flexion contractu...	OMIM:613330
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Joint contracture of the hand, Failure to thrive, Opacification of the corneal stroma, ...	OMIM:214110
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit...	ORPHA:98957
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy	ORPHA:1806
Emanuel Syndrome	Ventriculomegaly, Failure to thrive, Recurrent otitis media, Astigmatism, Upslanted palpebral fis...	OMIM:609029
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Telecanthus, Hydrocephalus, Opacification of the corneal stroma, Anterior chamber sy...	OMIM:601499
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Ventriculomegaly, Abnormality iris morphology, Occipital encephalocele, Megalocornea, D...	ORPHA:370959
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Joint stiffness, Joint hypermobility, Corneal opacity, Osteoporosis, Opacifi...	OMIM:253010
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Microcornea, Cataract,...	ORPHA:141099
Mucopolysaccharidosis Type 3	Cataract, Craniofacial hyperostosis, Ventriculomegaly, Aspiration pneumonia, Joint stiffness, Spl...	ORPHA:581
Incontinentia Pigmenti	Cataract, Keratitis, Camptodactyly of finger, Skin rash, Infectious encephalitis, Eosinophilia, C...	ORPHA:464
Jacobsen Syndrome	Microcornea, Failure to thrive, Telecanthus, Eyelid coloboma, Epicanthus, Ptosis, Hydrocephalus, ...	OMIM:147791
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia, Failure to thrive	OMIM:245200
Triploidy	Cataract, Decreased skull ossification, Hydrocephalus, Meningocele, Holoprosencephaly, Iris coloboma	ORPHA:3376
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Conjunctivitis, Blepharitis	OMIM:612843
Familial Dysautonomia	Osteolysis, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Acrocyanosis, Recur...	ORPHA:1764
Alexander Disease Type I	Hydrocephalus, Cachexia, Failure to thrive	ORPHA:363717
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Ventriculomegaly, Astigmatism, Corneal opacity	ORPHA:2323
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Telecanthus, Hydrocephalus	ORPHA:83473
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Decreased proport...	ORPHA:911
Stromme Syndrome	Accessory spleen, Cataract, Microcornea, Peters anomaly, Hydrocephalus, Stillbirth, Sclerocornea,...	OMIM:243605
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Ventriculomegaly, Bone cyst, Abnormal nasolacrimal system morphology, ...	ORPHA:2396
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Schimke Immunoosseous Dysplasia	Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Astigmatism, Thrombocytopenia,...	OMIM:242900
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Hydrocephalus	OMIM:612247
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Astigmatism, Upper eyelid coloboma, Abnormal eyelid morphology, Scleroc...	ORPHA:2095
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Developmental cataract	OMIM:600559
Biemond Syndrome Type 2	Obesity, Hydrocephalus	ORPHA:141333
Mosaic Variegated Aneuploidy Syndrome	Cataract, Ventriculomegaly, Downslanted palpebral fissures, Epicanthus, Corneal opacity, Holopros...	ORPHA:1052
Lcat Deficiency	Hemolytic anemia, Corneal opacity	ORPHA:650
Gaucher Disease	Pancytopenia, Abnormal bone structure, Osteopenia, Osteomyelitis, Splenic rupture, Corneal opacit...	ORPHA:355
6P22 Microdeletion Syndrome	Epicanthus, Hydrocephalus	ORPHA:251046
Emanuel Syndrome	Ventriculomegaly, Failure to thrive, Hooded eyelid, Recurrent otitis media, Astigmatism, Upslante...	ORPHA:96170
Tbck-Related Intellectual Disability Syndrome	Ventriculomegaly, Eczematoid dermatitis, Thick eyebrow, Upslanted palpebral fissure, Epicanthus, ...	ORPHA:488632
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Inflammation of the large intestine, Failure to thrive, Pancytopenia, Splenomeg...	OMIM:614576
De Barsy Syndrome	Cataract, Osteopenia, Failure to thrive, Downslanted palpebral fissures, Generalized joint hyperm...	ORPHA:2962
Hurler-Scheie Syndrome	Camptodactyly of finger, Joint stiffness, Contracture of the distal interphalangeal joint of the ...	OMIM:607015
Brittle Cornea Syndrome 1	Keratoconus, Abnormal cornea morphology, Joint hypermobility, Epicanthus, Decreased corneal thick...	OMIM:229200
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Recurrent fractures, Corneal opacity	OMIM:163200
Distal Triplication 15Q	Telecanthus, Large for gestational age, Hydrocephalus, Camptodactyly, Craniosynostosis, Flexion c...	ORPHA:314588
Fucosidosis	Acrocyanosis, Failure to thrive, Corneal opacity	ORPHA:349
Lathosterolosis	Cataract, Microcornea, Failure to thrive, Downslanted palpebral fissures, Epicanthus, Abnormal pl...	ORPHA:46059
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Corneal stromal edema, Flexion contracture of finger, Shallow orbits, Joint co...	OMIM:601812
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Malar rash, Splenomegaly, Skin rash, Hydrocephalus, Neutropenia, T...	ORPHA:398124
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Cataract, Osteopenia, Thick eyebrow, Joint hypermobility, Ptosis...	OMIM:616007
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Craniofacial osteosclerosis, Increased skull ossification, Long eyelashes, Epic...	OMIM:618476
B4Galt1-Cdg	Inflammatory abnormality of the skin, Splenomegaly, Hydrocephalus, Small for gestational age, Dan...	ORPHA:79332
Juvenile Sialidosis Type 2	Cataract, Hepatosplenomegaly, Corneal opacity	ORPHA:93399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Ventriculomegaly, Peters anomaly, Congenital contracture, Occipital encephalocele, Mega...	OMIM:236670
3Mc Syndrome 3	Highly arched eyebrow, Radioulnar synostosis, Ptosis, Blepharophimosis, Corneal opacity, Epicanth...	OMIM:248340
Hurler Syndrome	Limitation of joint mobility, Camptodactyly of finger, Thick eyebrow, Splenomegaly, Hydrocephalus...	ORPHA:93473
Trisomy 17P	Cataract, Downslanted palpebral fissures, Broad eyebrow, Ptosis, Hydrocephalus, Flexion contracture	ORPHA:261290
Mucopolysaccharidosis Type 1	Joint stiffness, Splenomegaly, Sinusitis, Hydrocephalus, Corneal opacity, Chronic otitis media	ORPHA:579
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Olmsted Syndrome 1	Flexion contracture, Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Sagittal craniosynostosis, Hydrocepha...	ORPHA:459061
Otopalatodigital Syndrome Type 2	Cataract, Synostosis of carpal bones, Failure to thrive, Downslanted palpebral fissures, Carpal s...	ORPHA:90652
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Ventriculomegaly, Failure to thrive, Corneal opacity, Anemia, Craniosynostosis, Recurrent skin in...	ORPHA:79396
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Inflammatory abnormality of the eye, Ptosis, Hydrocephalus	ORPHA:93262
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Spina bifida occul...	OMIM:612109
Thanatophoric Dysplasia	Ventriculomegaly, Downslanted palpebral fissures, Joint stiffness, Joint hypermobility, Hydroceph...	ORPHA:2655
Aymé-Gripp Syndrome	Cataract, Ventriculomegaly, Limitation of joint mobility, Bilateral ptosis, Downslanted palpebral...	ORPHA:1272
Mirage Syndrome	Aspiration pneumonia, Radial club hand, Lymphopenia, Leukopenia, Decreased body weight, Hydroceph...	OMIM:617053
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss...	OMIM:617321
Mosaic Trisomy 9	Ventriculomegaly, Limitation of joint mobility, Camptodactyly of finger, Upslanted palpebral fiss...	ORPHA:99776
Ciliary Dyskinesia, Primary, 1	Pneumonia, Abnormal cornea morphology, Chronic otitis media, Chronic sinusitis, Chronic rhinitis,...	OMIM:244400
Tangier Disease	Ectropion, Opacification of the corneal stroma, Splenomegaly, Cicatricial ectropion	OMIM:205400
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Coronal craniosynostosis, Microcornea, Joint contracture of the hand...	OMIM:201000
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Aniridia 1	Cataract, Ectopia lentis, Ectopia pupillae, Bilateral ptosis, Hypoplasia of the iris, Aniridia, C...	OMIM:106210
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Eyelid coloboma, Hydrocephalus, Sclerocornea, Limbal dermoid, Dandy-Walke...	OMIM:613001
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Pterygium, Hydrocephalus, Joint contracture, Dandy-Walker malf...	OMIM:225790
Alkuraya-Kucinskas Syndrome	Cataract, Ventriculomegaly, Upslanted palpebral fissure, Hydrocephalus, Camptodactyly, Arthrogryp...	OMIM:617822
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Hydrocephalus, Iris coloboma, Abnormally ossified vertebrae	ORPHA:3301
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Irregular tarsal ossification, Corneal dystrophy, Subepithelial corne...	OMIM:221800
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Hydrocephalus	ORPHA:2183
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Downslanted palpebral fissures...	OMIM:616294
Hajdu-Cheney Syndrome	Osteopenia, Foot acroosteolysis, Failure to thrive, Downslanted palpebral fissures, Pathologic fr...	OMIM:102500
Adams-Oliver Syndrome	Cataract, Failure to thrive, Leukopenia, Encephalocele, Hydrocephalus, Thrombocytopenia	ORPHA:974
Hajdu-Cheney Syndrome	Cataract, Osteopenia, Coarse metaphyseal trabecularization, Failure to thrive, Periodontitis, Dow...	ORPHA:955
Mucopolysaccharidosis Type 6	Failure to thrive, Joint stiffness, Splenomegaly, Sinusitis, Opacification of the corneal stroma,...	ORPHA:583
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Hydrocephalus	OMIM:616521
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Epicanthus, Hydrocephalus, Aplasia/Hypoplasia of the eyebrow	ORPHA:2701
Whipple Disease	Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Cachexia, Hydrocephalus, Arthritis, Myo...	ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Posterior synechiae of the anterior chamber, Lateral v...	OMIM:613154
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Highly arched eyebrow, Camptodactyly of finger, Downslanted palpebral fissures, Bicoronal synosto...	OMIM:619951
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Flexion contracture, Hydrocephalus	ORPHA:99947
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Upslanted palpebral fissure	OMIM:300558
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Failure to thrive, Downslanted palpebral fissures, Joint hypermobility, Hydrocephalus	OMIM:612940
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Temple Syndrome	Hydrocephalus, Obesity, Small for gestational age	ORPHA:254516
Thanatophoric Dysplasia Type 2	Ventriculomegaly, Limitation of joint mobility, Encephalocele, Joint hypermobility, Hydrocephalus...	ORPHA:93274
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanthus, Sclerocornea	OMIM:615877
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hydrocephalus, Anemia, Pericarditis	ORPHA:163596
Congenital Disorder Of Deglycosylation 1	Decreased CSF 5-hydroxyindolacetic acid concentration, Decreased CSF albumin concentration, Decre...	OMIM:615273
Mucopolysaccharidosis Type 4	Joint hypermobility, Reduced bone mineral density, Corneal opacity	ORPHA:582
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Ptosis, Camptodact...	OMIM:614230
Congenital Myopathy 22A, Classic	Bilateral ptosis, Downslanted palpebral fissures, Hip contracture, Neonatal death, Ptosis, Achill...	OMIM:620351
Neurotrophic Keratopathy	Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e...	ORPHA:137596
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Bresek Syndrome	Iris coloboma, Hydrocephalus, Neonatal death	ORPHA:85284
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Peroxisome Biogenesis Disorder 12A (Zellweger)	Epicanthus, Abnormal cortical bone morphology, Hydrocephalus, Decreased body weight	OMIM:614886
Marfanoid-Progeroid-Lipodystrophy Syndrome	Ectopia lentis, Downslanted palpebral fissures, Keratoconjunctivitis sicca, Hydrocephalus, Cranio...	OMIM:616914
Sturge-Weber Syndrome	Hyperostosis, Conjunctival telangiectasia, Heterochromia iridis, Hydrocephalus, Iris coloboma, Co...	ORPHA:3205
Vacterl Association With Hydrocephalus	Radial club hand, Aqueductal stenosis, Hydrocephalus, Stillbirth	OMIM:276950
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Failure to thrive, Thin eyebrow, Telecanthus, Corneal opacity, Synophrys	ORPHA:364577
Mosaic Variegated Aneuploidy Syndrome 1	Cataract, Ventriculomegaly, Upslanted palpebral fissure, Epicanthus, Hydrocephalus, Leukemia, Sma...	OMIM:257300
Houge-Janssens Syndrome 2	Joint hypermobility, Ventriculomegaly, Hydrocephalus, Downslanted palpebral fissures	OMIM:616362
Ophthalmomandibulomelic Dysplasia	Decreased mobility 3rd-5th fingers, Opacification of the corneal stroma, Megalocornea	OMIM:164900
Muenke Syndrome	Coronal craniosynostosis, Carpal synostosis, Ptosis, Hydrocephalus, Tarsal synostosis	ORPHA:53271
Dubowitz Syndrome	Cataract, Sparse lateral eyebrow, Eczematoid dermatitis, Telecanthus, Joint hypermobility, Spina ...	ORPHA:235
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Cataract, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Corneal neovasculari...	OMIM:158310
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Holoprosencephaly, Iris coloboma, Hydrocephalus	ORPHA:77298
Microphthalmia/Coloboma 12	Ventriculomegaly, Peters anomaly, Corneal opacity	OMIM:120200
Shigellosis	Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Failure to thrive in infancy, L...	ORPHA:810
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Immunodeficiency 92	Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp...	OMIM:619652
Desmosterolosis	Ventriculomegaly, Failure to thrive, Downslanted palpebral fissures, Splenomegaly, Epicanthus, Os...	ORPHA:35107
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Periodontitis, Ectropion, Camptodactyly of finger...	ORPHA:2908
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Downslanted palpebral fissures, Colpocephaly, Hydrocephalus, Communicating hydr...	OMIM:615219
Pelvis-Shoulder Dysplasia	Microcornea, Short palpebral fissure, Hydranencephaly, Camptodactyly of finger, Hydrocephalus, Sp...	ORPHA:2839
Microphthalmia With Brain And Digit Anomalies	Sclerocornea, Cataract, Microcornea, Iris coloboma	ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Flexion contracture, Hydrocephalus	OMIM:615249
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Cogan Syndrome	Keratitis, Leukocytosis, Episcleritis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt...	ORPHA:1467
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Spondyloepiphyseal Dysplasia, Maroteaux Type	Generalized osteoporosis, Opacification of the corneal stroma, Small joint hypermobilty	OMIM:184095
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Posterior subcapsular cataract, Megalocornea, Downslanted palpebral fissures, Elbow f...	ORPHA:536471
Neurocardiofaciodigital Syndrome	Cataract, Sparse eyebrow, Failure to thrive, Lateral ventricle dilatation, Dilated fourth ventric...	OMIM:619869
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Opacification of the corneal stroma, Downslanted palpebral fissures	OMIM:601853
Houge-Janssens Syndrome 1	Ventriculomegaly, Ptosis, Hydrocephalus, Downslanted palpebral fissures	OMIM:616355
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn...	OMIM:256800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Failure to thrive, Eczematoid dermatitis, Camptodactyly of finger, Thin eyebrow, Episc...	ORPHA:2273
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly, Obesity, Splenomegaly	OMIM:615630
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Communicating hydrocephalus, Thrombocytopenia	ORPHA:1237
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Aase-Smith Syndrome I	Flexion contracture, Ptosis, Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Downslanted palpebral fissures, Hip contracture, Hydrocephalus, Anemia, Flexion contrac...	ORPHA:3042
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Blau Syndrome	Cataract, Flexion contracture of toe, Band keratopathy, Uveitis, Eczematoid dermatitis, Nongranul...	OMIM:186580
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L...	ORPHA:139402
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss, Hydrocephalus, Anemia, Reduced bone mineral density, Recurrent fr...	OMIM:619377
Desmosterolosis	Joint contracture of the hand, Ventriculomegaly, Failure to thrive, Downslanted palpebral fissure...	OMIM:602398
Plasminogen Deficiency, Type I	Nephritis, Ventriculomegaly, Periodontitis, Hydrocephalus, Conjunctivitis, Dandy-Walker malformation	OMIM:217090
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Moebius Syndrome	Epicanthus, Ptosis, Corneal opacity, Arthrogryposis multiplex congenita, Blepharitis	ORPHA:570
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Knee flexion contracture, Long palpebral fissure, Ptosis, Hydrocephalus	OMIM:603387
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Ventriculomegaly, Chronic otitis media, Periodontitis, Failure to thrive, ...	ORPHA:534
Fabry Disease	Cataract, Conjunctival telangiectasia, Corneal opacity, Arthritis, Cornea verticillata, Anemia, R...	ORPHA:324
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Congenital contracture, Colpocephaly, Hydrocephalus, Narrow palpebral fissure, ...	OMIM:620156
Dyssegmental Dysplasia, Silverman-Handmaker Type	Limitation of joint mobility, Pterygium, Encephalocele, Hydrocephalus, Developmental cataract, Fl...	ORPHA:1865
Chime Syndrome	Acute leukemia, Upslanted palpebral fissure, Epicanthus, Ptosis, Corneal opacity, Osteolysis	ORPHA:3474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Ventriculomegaly, Congenital contracture, Peters anomaly, Encephalocele, Hydrocephalus,...	OMIM:613150
Ifap Syndrome 2	Cataract, Posterior blepharitis, Keratitis, Angular cheilitis, Keratoconjunctivitis sicca	OMIM:619016
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Hydranencephaly, Dilated third ventricle, Tracheomalacia, Lateral ventricl...	OMIM:620371
Cardiofaciocutaneous Syndrome 1	Osteopenia, Palpebral thickening, Atopic dermatitis, Failure to thrive, Downslanted palpebral fis...	OMIM:115150
Icf Syndrome	Lymphopenia, Communicating hydrocephalus, Epicanthus, Anemia, Abnormality of neutrophils	ORPHA:2268
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Phacoanaphylactic Uveitis	Anterior chamber flare grade 1+, Posterior uveitis, Hypopyon, Panuveitis, Posterior synechiae of ...	ORPHA:209959
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Generalized osteoporosis, Osteopenia, Downslanted palpebral fissures, Elbow flexion contracture, ...	OMIM:245600
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Lateral ventricle dilatation, Failure to thrive, Lacrimal duct atresia	OMIM:300952
Coccidioidomycosis	Hypoglycorrhachia, Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Folli...	ORPHA:228123
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Pneumonia, Joint stiffness, Splenomegaly, Hydrocephalus, Corneal opacity, Fl...	OMIM:253200
Histiocytoid Cardiomyopathy	Failure to thrive, Megalocornea, Cyanosis, Corneal opacity, Hydrocephalus, Congenital aphakia	ORPHA:137675
Chromosome 17P13.1 Deletion Syndrome	Highly arched eyebrow, Downslanted palpebral fissures, Elbow flexion contracture, Telecanthus, Kn...	OMIM:613776
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Ventriculomegaly, Abnormality of the spleen, Hepatosplenomegaly, Pancytop...	ORPHA:2072
Thrombocytopenia-Absent Radius Syndrome	Cataract, Carpal synostosis, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Ptosis, Seborrheic d...	OMIM:274000
Joubert Syndrome With Oculorenal Defect	Highly arched eyebrow, Encephalocele, Ptosis, Hydrocephalus, Iris coloboma	ORPHA:2318
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Joint stiffness, Holoprosencephaly, Hydrocephalus	ORPHA:2182
Generalized Pustular Psoriasis	Cheilitis, Lymphopenia, Obesity, Leukocytosis, Palmoplantar pustulosis, Pustule, Erythroderma, Ar...	ORPHA:247353
1Q44 Microdeletion Syndrome	Ventriculomegaly, Telecanthus, Upslanted palpebral fissure, Epicanthus, Hydrocephalus, Synophrys	ORPHA:238769
Acrodysostosis 1 With Or Without Hormone Resistance	Epiphyseal stippling, Epicanthus, Neonatal epiphyseal stippling, Blue irides, Hydrocephalus, Calv...	OMIM:101800
Joubert Syndrome 14	Highly arched eyebrow, Downslanted palpebral fissures, Encephalocele, Epicanthus, Ptosis, Hydroce...	OMIM:614424
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Osteopenia, Osteolysis, Erythroid hyperplasia, Splenomegaly, Loss of eye...	ORPHA:95159
Neurofibromatosis Type 1	Chronic myelogenous leukemia, Cataract, Osteopenia, Joint stiffness, Heterochromia iridis, Lisch ...	ORPHA:636
1Q21.1 Microdeletion Syndrome	Cataract, Failure to thrive, Joint hypermobility, Epicanthus, Hydrocephalus, Iris coloboma	ORPHA:250989
Osteogenesis Imperfecta	Osteopenia, Ventriculomegaly, Fractures of the long bones, Recurrent fractures, Abnormal cortical...	ORPHA:666
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Encephalocele, Epicanthus, Hydrocephalus, Meningocele, Holoprosencephaly, Anen...	ORPHA:1908
Fanconi Anemia	Cataract, Short palpebral fissure, Ventriculomegaly, Leukopenia, Upslanted palpebral fissure, Alm...	ORPHA:84
Joubert Syndrome With Renal Defect	Highly arched eyebrow, Encephalocele, Ptosis, Hydrocephalus, Iris coloboma	ORPHA:220497
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Hydrocephalus	OMIM:304100
Hec Syndrome	Communicating hydrocephalus, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Cousin Syndrome	Short palpebral fissure, Joint contracture of the hand, Microcornea, Hydranencephaly, Humeroradia...	OMIM:260660
Rodrigues Blindness	Sclerocornea, Microcornea	OMIM:268320
Cerebrooculonasal Syndrome	Sparse eyebrow, Ventriculomegaly, Encephalocele, Sparse eyelashes, Epicanthus, Ptosis, Hydrocepha...	OMIM:605627
Joubert Syndrome	Highly arched eyebrow, Encephalocele, Ptosis, Hydrocephalus, Iris coloboma	ORPHA:475
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Intellectual Developmental Disorder, Autosomal Dominant 65	Thin eyebrow, Upslanted palpebral fissure, Narrow palpebral fissure, Noncommunicating hydrocephal...	OMIM:619320
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Joint hypermobility	ORPHA:2181
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Monosomy 9Q22.3	Cataract, Ventriculomegaly, Downslanted palpebral fissures, Large for gestational age, Joint hype...	ORPHA:77301
Onychotrichodysplasia And Neutropenia	Curly eyelashes, Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Chronic neutropen...	OMIM:258360
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Failure to thrive, Lateral ventricle dilatation, Recurrent otitis media,...	OMIM:619575
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Tetrasomy 5P	Failure to thrive, Cyanosis, Upslanted palpebral fissure, Epicanthus, Hydrocephalus	ORPHA:3309
Focal Dermal Hypoplasia	Ectopia lentis, Coarse metaphyseal trabecularization, Hypoplasia of the iris, Camptodactyly of fi...	ORPHA:2092
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Mucolipidosis Ii Alpha/Beta	Osteopenia, Sparse eyebrow, Recurrent pneumonia, Limitation of joint mobility, Failure to thrive,...	OMIM:252500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Cataract, Ventriculomegaly, Buphthalmos	OMIM:616538
Galactosialidosis	Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma	OMIM:256540
Knobloch Syndrome	Cataract, Ectopia lentis, Occipital encephalocele, Joint hypermobility, Epicanthus, Hydrocephalus	ORPHA:1571
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Recurrent otitis media, Hepatosplenomegaly, Splenomegaly, Ptosis, Hydrocepha...	OMIM:309900
Peho Syndrome	Ventriculomegaly, Limitation of joint mobility, Epicanthus, Hydrocephalus, Palpebral edema, Flexi...	ORPHA:2836
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Cyanosis, Hydrocephalus, Spina bifida	OMIM:207950
Dyrk1A-Related Intellectual Disability Syndrome	Ventriculomegaly, Failure to thrive, Eczematoid dermatitis, Astigmatism, Multiple joint contractu...	ORPHA:464306
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Osteopenia, Osteolysis, Leukopenia, Erythroid hyperplasia, Reticulocytos...	ORPHA:79277
Pfeiffer Syndrome	Coronal craniosynostosis, Downslanted palpebral fissures, Humeroradial synostosis, Elbow ankylosi...	OMIM:101600
Achondroplasia	Hip joint hypermobility, Obesity, Limited elbow extension, Knee joint hypermobility, Hydrocephalu...	ORPHA:15
Galloway-Mowat Syndrome 1	Cataract, Joint contracture of the hand, Ventriculomegaly, Hypoplasia of the iris, Epicanthus, Pt...	OMIM:251300
3C Syndrome	Ventriculomegaly, Downslanted palpebral fissures, Hydrocephalus, Iris coloboma, Dandy-Walker malf...	ORPHA:7
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Ventriculomegaly, Failure to thrive, Astigmatism, Flexion contracture ...	ORPHA:464311
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Nocturnal lagophthalmos, Limited hip movement, Joint stiffness, Lim...	ORPHA:740
Gaucher Disease, Type Iiic	Hydrocephalus, Pancytopenia, Opacification of the corneal stroma, Splenomegaly	OMIM:231005
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Decreased calvarial ossification, Epicanthus, Choroid plexus cyst, Hydrocephalus	OMIM:617866
Xeroderma Pigmentosum	Cataract, Craniofacial hyperostosis, Ankyloblepharon, Keratitis, Failure to thrive, Pterygium, Co...	ORPHA:910
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Encephalocele, Ptosis, Hydrocephalus, Iris coloboma	ORPHA:220493
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Failure to thrive, Hepatosplenomegaly, Opacification of the corneal stroma, Epiphyseal ...	OMIM:614866
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Recurrent otitis media, Joint stiffness, Corneal opacity, Lens subluxation	OMIM:608940
Chromosome 6Q24-Q25 Deletion Syndrome	Short palpebral fissure, Lateral ventricle dilatation, Hooded eyelid, Upslanted palpebral fissure...	OMIM:612863
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Recurrent pneumonia, Lateral ventricle dilatation, Splenomeg...	OMIM:612301
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus	OMIM:614120
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Leukopenia, Long eyelashes, Telecanthus, Joint stiffness, Epicanthus, Hydroce...	ORPHA:505248
Lateral Meningocele Syndrome	Downslanted palpebral fissures, Telecanthus, Sclerosis of skull base, Joint hypermobility, Ptosis...	OMIM:130720
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Recurrent pneumonia, Joint hypermobility, Osteoporosis, Opacification of the...	OMIM:253000
Fg Syndrome Type 1	Ventriculomegaly, Downslanted palpebral fissures, Slender build, Limited elbow extension and supi...	ORPHA:93932
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Holoprosencephaly	Highly arched eyebrow, Spinal dysraphism, Failure to thrive in infancy, Abnormality of the spleen...	ORPHA:2162
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Long eyelashes, Broad eyebrow, Keratoconjunctivitis sicca, Corneal opacity, Bupht...	ORPHA:495875
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Failure to thrive, Opacification of the corneal stroma, Epiphyseal stippling, Upslanted...	OMIM:214100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Failure to thrive, Joint hypermobility	ORPHA:60040
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Limbal dermoid, Hydrocephalus	ORPHA:1834
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Telecanthus, Joint hypermobility, Epicanthus, Hydrocephalus	OMIM:618590
Granulomatosis With Polyangiitis	Keratitis, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis m...	OMIM:608710
Intermediate Uveitis	Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Psoriasiform dermatitis,...	ORPHA:279914
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Frontofacionasal Dysplasia	Cataract, Microcornea, Ankyloblepharon, Cranium bifidum occultum, Telecanthus, Absent inner eyela...	OMIM:229400
Sarcoidosis	Weight loss, Erythema nodosum, Tubulointerstitial nephritis, Abnormal cerebrospinal fluid morphol...	ORPHA:797
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Acquired Aneurysmal Subarachnoid Hemorrhage	Increased CSF lactate, Leukocytosis, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Kabuki Syndrome	Eversion of lateral third of lower eyelids, Highly arched eyebrow, Microcornea, Ventriculomegaly,...	ORPHA:2322
Primary Ciliary Dyskinesia	Ventriculomegaly, Bronchiectasis, Polysplenia, Recurrent otitis media, Chronic sinusitis, Chronic...	ORPHA:244
Scheie Syndrome	Corneal opacity	OMIM:607016
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Entropion, Keratoconjunctivitis sicca, Ectropion...	OMIM:278730
22Q11.2 Deletion Syndrome	Epicanthus, Posterior embryotoxon, Chronic otitis media, Cataract, Multiple suture craniosynostos...	ORPHA:567
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma, Chronic mucocutaneous candidiasis	ORPHA:3453
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Ventricul...	OMIM:101200
Tetrasomy 15Q26	Camptodactyly, Hydrocephalus, Dandy-Walker malformation, Downslanted palpebral fissures	OMIM:614846
Tangier Disease	Ectropion, Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia	ORPHA:31150
Fanconi Anemia, Complementation Group R	Anemia, Hydrocephalus, Radial dysplasia	OMIM:617244
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Decreased skull ossification	OMIM:300863
Pettigrew Syndrome	Ventriculomegaly, Hydrocephalus, Calvarial osteosclerosis, Aqueductal stenosis, Flexion contractu...	OMIM:304340
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint contracture of the hand, Downslanted palpebral fissures, Telecanthus, Joint hyp...	OMIM:182212
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Downslanted palpebral fissures	OMIM:220210
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Cataract, Stomatocytosis, Hypoglycorrhachia, Hepatosplenomegaly, Zo...	ORPHA:168577
Apert Syndrome	Ventriculomegaly, Downslanted palpebral fissures, Cervical C5/C6 vertebrae fusion, Hydrocephalus,...	ORPHA:87
Larsen Syndrome	Tracheomalacia, Joint hypermobility, Multiple carpal ossification centers, Spina bifida occulta, ...	OMIM:150250
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Upslanted palpebral fissure, Long palpebral fissure, Hydrocephalus, Delaye...	OMIM:239300
Mosaic Trisomy 8	Arthrogryposis multiplex congenita, Limitation of joint mobility, Camptodactyly of finger, Cornea...	ORPHA:96061
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr...	ORPHA:580
Joubert Syndrome With Hepatic Defect	Highly arched eyebrow, Occipital encephalocele, Splenomegaly, Ptosis, Hydrocephalus, Iris coloboma	ORPHA:1454
Shprintzen-Goldberg Syndrome	Osteopenia, Ventriculomegaly, Failure to thrive, Downslanted palpebral fissures, Camptodactyly of...	ORPHA:2462
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Horizontal eyebrow, Tracheomalacia, Long eyelashes, Obesity, Astigmatism, Joint...	ORPHA:96121
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Abnormal nasolacrimal system morphology, Posterior embryotoxon, Abnormal eyeli...	ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Encephalocele, Hydrocephalus, Flexion contracture, Holoprosencephaly	OMIM:253800
Basal Cell Nevus Syndrome 1	Cataract, Orbital cyst, Hydrocephalus, Spina bifida, Irregular ossification of hand bones, Verteb...	OMIM:109400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Downslanted palpebral fissures, Epicanthus, Abnormal eyelid morphology, Hydroce...	ORPHA:1812
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Failure to thrive, Downslanted palpebral fissures, Megalocornea, Epicanthu...	ORPHA:280
Mend Syndrome	Cataract, Failure to thrive, Upslanted palpebral fissure, Anterior polar cataract, Hydrocephalus,...	OMIM:300960
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Cryptophthalmos, Absent eyelashes, Absent eyebrow, Corneal opacity, Able...	ORPHA:920
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity, Hydrocephalus	ORPHA:2180
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Iritis, Myeloproliferative disorder, Blepharitis, Uveitis	ORPHA:158000
Fryns Syndrome	Ventriculomegaly, Dandy-Walker malformation, Corneal opacity	ORPHA:2059
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Meckel Syndrome	Accessory spleen, Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Encephalocele, Hydroceph...	ORPHA:564
Gorlin Syndrome	Cataract, Telecanthus, Epicanthus, Hydrocephalus, Vertebral fusion, Iris coloboma	ORPHA:377
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Opacification of the corneal stroma, Iris coloboma	OMIM:169550
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Mucolipidosis Iii Gamma	Joint stiffness, Claw hand deformity, Finger joint contracture, Shoulder contracture, Opacificati...	OMIM:252605
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus	OMIM:615862
Cockayne Syndrome B	Microcornea, Limitation of joint mobility, Failure to thrive, Hypoplasia of the iris, Ivory epiph...	OMIM:133540
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P...	OMIM:175780
Alexander Disease	Osteopenia, Failure to thrive, Infectious encephalitis, Ptosis, Hydrocephalus, Aqueductal stenosis	ORPHA:58
Hemangioblastoma	Retinal capillary hemangioma, Hydrocephalus	ORPHA:252054
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Ventriculomegaly, Peters anomaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:614643
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, Failure to thrive, Thin eyebrow, Telecanthus, Corneal opacity, Synophrys	OMIM:608670
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Opacification of the corneal stroma, Limitation of joint mobility	OMIM:313400
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Bartsocas-Papas Syndrome 1	Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Arthrogryposis multiplex congenita, Pte...	OMIM:263650
Relapsing Polychondritis	Cataract, Uveitis, Limitation of joint mobility, Keratitis, Hepatitis, Recurrent aphthous stomati...	ORPHA:728
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Failure to thrive, Hydrocephalus, Flexion contracture,...	ORPHA:500055
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Failure to thrive, Corneal opacity	OMIM:620519
Myopathy, Centronuclear, X-Linked	Flexion contracture, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczematoid dermatitis, Elbow contracture, Sclerosis of skull base, Delayed pub...	OMIM:618162
Nocardiosis	Pneumonia, Brain abscess, Cutaneous abscess, Keratitis, Lymphadenitis, Osteomyelitis, Pericarditi...	ORPHA:31204
Trisomy 1Q	Ventriculomegaly, Hydrocephalus, Camptodactyly of finger, Downslanted palpebral fissures	ORPHA:261344
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Chronic mucocutaneous candidiasis, Hepatitis, Keratoconjunctivitis, I...	OMIM:269200
Cardiofaciocutaneous Syndrome	Downslanted palpebral fissures, Failure to thrive in infancy, Sparse or absent eyelashes, Long pa...	ORPHA:1340
Raine Syndrome	Highly arched eyebrow, Downslanted palpebral fissures, Neonatal death, Subperiosteal bone formati...	OMIM:259775
Autosomal Dominant Cutis Laxa	Osteopenia, Pyelonephritis, Joint hypermobility, Ptosis, Developmental cataract, Corneal opacity,...	ORPHA:90348
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Perito...	ORPHA:32960
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Microcornea, Tracheomalacia, Multiple joint contractures, Joint hypermobility, Radiou...	ORPHA:536467
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Peters anomaly, Colpocephaly, Hydrocephalus, Sclerocornea, Iris coloboma	OMIM:309801
Koolen-De Vries Syndrome Due To A Point Mutation	Short palpebral fissure, Ventriculomegaly, Tracheomalacia, Eczematoid dermatitis, Recurrent otiti...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Short palpebral fissure, Ventriculomegaly, Tracheomalacia, Eczematoid dermatitis, Recurrent otiti...	ORPHA:363958
Mend Syndrome	Cataract, Failure to thrive, Telecanthus, Upslanted palpebral fissure, Hydrocephalus, Dandy-Walke...	ORPHA:401973
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Hydrocephalus	OMIM:218350
Phace Syndrome	Cataract, Heterochromia iridis, Ptosis, Sclerocornea, Abnormality of the orbital region, Lens col...	ORPHA:42775
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Joint stiffness, Knee osteoarthritis, Synovitis, Weight l...	ORPHA:85408
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Ptosis, Hydrocephalus, Downslanted palpebral fissures	ORPHA:1555
Autoinflammatory Disease, Systemic, With Vasculitis	Atopic dermatitis, Failure to thrive, Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ...	OMIM:620376
Pontocerebellar Hypoplasia, Type 7	Epicanthus, Ventriculomegaly, Hydrocephalus, Synophrys	OMIM:614969
Fraser Syndrome 1	Lacrimal duct aplasia, Myelomeningocele, Cryptophthalmos, Encephalocele, Absent eyelashes, Upper ...	OMIM:219000
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Recurrent otitis media, Brain abscess, Hydrocephalus, Neonatal death	OMIM:616482
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Failure to thrive, Bilateral ptosis, Downslanted palpebral fissures, Thick eyebrow, Almond-shaped...	OMIM:619512
Arachnoid Cyst	Mydriasis, Enlarged fossa interpeduncularis, Encephalocele, Ptosis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Mosaic Trisomy 1	Lateral ventricle dilatation, Camptodactyly of finger, Downslanted palpebral fissures, Congenital...	ORPHA:1692
Marshall-Smith Syndrome	Highly arched eyebrow, Ventriculomegaly, Failure to thrive, Aspiration pneumonia, Thick eyebrow, ...	OMIM:602535
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Anencephaly, Hydrocephalus, Spina bifida, Corneal opacity, Lens ...	ORPHA:2369
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Failure...	OMIM:617718
Fetal Akinesia Deformation Sequence 1	Short palpebral fissure, Congenital contracture, Camptodactyly of finger, Elbow contracture, Tele...	OMIM:208150
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals, Rickets	OMIM:219900
Czeizel-Losonci Syndrome	Myelomeningocele, Upslanted palpebral fissure, Spina bifida, Hydrocephalus, Spina bifida occulta	ORPHA:2437
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Ankle flexion contracture, Stillbirth, Downslanted palpebral fissures...	OMIM:268300
Functioning Gonadotropic Adenoma	Osteoporosis, Osteopenia, Hydrocephalus	ORPHA:91348
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Downslanted palpebral fissures, Epicanthus, Ptosis, Hydrocephalus, Narrow palpe...	OMIM:613603
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Failure to thrive, Dandy-Walker malformation	OMIM:612938
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Camptodactyly of 2nd-5th fingers, Elbow flexion contracture, Abnor...	OMIM:600920
Monosomy 18Q	Failure to thrive, Downslanted palpebral fissures, Slender build, Joint hypermobility, Epicanthus...	ORPHA:1600
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Long eyelashes, Thick eyebrow, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Cryptococcosis	Pneumonia, Osteomyelitis, Prostatitis, Peritonitis, Hydrocephalus, Lymphoid leukemia, Osteolysis	ORPHA:1546
Wilson Disease	Sunflower cataract, Kayser-Fleischer ring, Osteomalacia, Splenomegaly, Joint hypermobility, Atypi...	OMIM:277900
Apolipoprotein A-I Deficiency	Xanthelasma, Opacification of the corneal stroma	ORPHA:425
Wiedemann-Rautenstrauch Syndrome	Cataract, Osteopenia, Failure to thrive, Camptodactyly of finger, Recurrent otitis media, Slender...	ORPHA:3455
Antiphospholipid Syndrome, Familial	Scleritis, Autoimmune thrombocytopenia, Keratitis, Iritis	OMIM:107320
Dural Sinus Malformation	Chemosis, Myelopathy, Hydrocephalus	ORPHA:97339
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Downslanted palpebral fissur...	ORPHA:314585
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Downslanted palpebral fissures, Limited elbow extension, Ptosis, Hydrocephalus,...	OMIM:123790
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation, Failure to thrive	OMIM:231670
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Ventriculomegaly, Splenic cyst, Subperiosteal bone formation, Communic...	OMIM:618188
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Anterior uveitis, Sacroiliac arthritis, Psoriasiform derma...	ORPHA:85436
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Bilateral ptosis, Congenital fibrosis of extraocular muscles, Downs...	ORPHA:300570
Mucolipidosis Iii Alpha/Beta	Craniosynostosis, Opacification of the corneal stroma, Limitation of joint mobility, Hyperopic as...	OMIM:252600
Peters Plus Syndrome	Cataract, Microcornea, Short palpebral fissure, Peters anomaly, Ventriculomegaly, Upslanted palpe...	ORPHA:709
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Cataract, Ventriculomegaly, Failure to thrive, Osteomyelitis, Obesity, Thick eyebrow, Upslanted p...	OMIM:619475
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Humeroradial synostosis, Hydrocephalus, Ca...	OMIM:207410
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Aplastic anemia, Hydrocephalus, Thrombocytopenia	OMIM:300514
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Cataract, Sparse eyebrow, Failure to thrive, Downslanted palpebral fissures, Upslanted...	OMIM:264090
Thanatophoric Dysplasia Type 1	Ventriculomegaly, Joint stiffness, Hydrocephalus	ORPHA:1860
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemia, Reticulocytopenia, Blepharophimosis, Neutropenia, Thrombocytopenia, Leukemi...	OMIM:227646
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Stuve-Wiedemann Syndrome 1	Short palpebral fissure, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture...	OMIM:601559
Williams Syndrome	Synostosis of joints, Cataract, Osteopenia, Megalocornea, Failure to thrive in infancy, Obesity, ...	ORPHA:904
Thanatophoric Dysplasia, Type I	Hydrocephalus, Neonatal death	OMIM:187600
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalacia, Failure to thrive, Sc...	OMIM:300373
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Occipital meningocele, Upslanted palpebral...	OMIM:610828
Acrofacial Dysostosis, Cincinnati Type	Ventriculomegaly, Failure to thrive, Downslanted palpebral fissures, Pterygium, Recurrent otitis ...	OMIM:616462
Wolf-Hirschhorn Syndrome	Accessory spleen, Highly arched eyebrow, Ventriculomegaly, Failure to thrive, Ectopia pupillae, R...	OMIM:194190
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m...	ORPHA:2658
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Tracheomalacia, Iris coloboma, Eyelid coloboma	ORPHA:268249
Smith-Lemli-Opitz Syndrome	Cataract, Ventriculomegaly, Downslanted palpebral fissures, Upslanted palpebral fissure, Epicanth...	ORPHA:818
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Norrie Disease	Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abnormal pupil morphology, C...	ORPHA:649
Hydrocephaly-Low Insertion Umbilicus Syndrome	Epicanthus, Communicating hydrocephalus	ORPHA:2184
Cockayne Syndrome A	Cataract, Ventriculomegaly, Limitation of joint mobility, Failure to thrive, Splenomegaly, Hip co...	OMIM:216400
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Otitis media, Chronic rhinitis, Osteopetrosis, Hydrocephalus, Anemia, Craniosynosto...	ORPHA:667
Cole-Carpenter Syndrome	Joint hypermobility, Communicating hydrocephalus, Recurrent fractures, Downslanted palpebral fiss...	ORPHA:2050
Mucopolysaccharidosis Type 2, Severe Form	Limitation of joint mobility, Camptodactyly of finger, Hepatosplenomegaly, Splenomegaly, Arthriti...	ORPHA:217085
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Myelomeningocele, Spina bifida occulta, Hydrocephalus, Vertebral fusion	OMIM:613686
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Vacterl With Hydrocephalus	Aqueductal stenosis, Microcornea, Hydrocephalus, Spina bifida	ORPHA:3412
Mucopolysaccharidosis Type 2, Attenuated Form	Limitation of joint mobility, Camptodactyly of finger, Hepatosplenomegaly, Splenomegaly, Arthriti...	ORPHA:217093
Smith-Lemli-Opitz Syndrome	Cataract, Failure to thrive, Eczematoid dermatitis, Recurrent otitis media, Epiphyseal stippling,...	OMIM:270400
Diabetic Embryopathy	Spinal dysraphism, Hydrocephalus	ORPHA:1926
Pseudoaminopterin Syndrome	Highly arched eyebrow, Synostosis of carpal bones, Limited elbow movement, Epicanthus, Sagittal c...	ORPHA:221120
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Cataract, Posterior uveitis, Nongranulomatous uveitis, Posterior synechiae of ...	ORPHA:91500
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Hereditary Acrokeratotic Poikiloderma	Eczematoid dermatitis, Camptodactyly of finger, Joint hypermobility, Pustule, Keratoconjunctiviti...	ORPHA:2907
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Neonatal death, Epicanthus, Hydrocephalus, Holoprosencephaly, Anencephaly	OMIM:269860
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Bronchiectasis, Pancytopenia, Splenomegaly, Weight loss, Iri...	OMIM:181000
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Ciliary Dyskinesia, Primary, 43	Chronic sinusitis, Bronchiectasis, Noncommunicating hydrocephalus, Chronic rhinitis	OMIM:618699
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Megaloblastic anemia, Hydrocephalus, Thrombocytopenia, Neutropenia, Small for ...	OMIM:277400
Yunis-Varon Syndrome	Cataract, Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Decreased skull ossifica...	ORPHA:3472
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Ptosis, Hydrocephalus, Downslanted palpebral fissures	OMIM:104350
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Sparse eyebrow, Ventriculomegaly, Limitation of joint mobility, Downslanted palpebral fissures, S...	ORPHA:457359
Oculoectodermal Syndrome	Microcornea, Astigmatism, Eyelid coloboma, Epicanthus, Opacification of the corneal stroma, Limba...	OMIM:600268
Campomelic Dysplasia	Delayed epiphyseal ossification, Short palpebral fissure, Spinal dysraphism, Tracheomalacia, Fail...	OMIM:114290
Marden-Walker Syndrome	Short palpebral fissure, Failure to thrive, Camptodactyly of finger, Joint stiffness, Radioulnar ...	ORPHA:2461
Kabuki Syndrome 1	Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse eyebrow, Prominent eyel...	OMIM:147920
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Bilateral ptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Hydrocephalus, Thr...	ORPHA:163979
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of eyelid, Leukocytosis, Hydrocephalus, Abdominal obesity, Flexion contracture	OMIM:619321
Hydrolethalus	Anencephaly, Hydrocephalus	ORPHA:2189
Meckel Syndrome, Type 1	Accessory spleen, Ventriculomegaly, Occipital encephalocele, Camptodactyly of finger, Dilated fou...	OMIM:249000
Joubert Syndrome 2	Hydrocephalus, Encephalocele, Enlarged fossa interpeduncularis, Failure to thrive	OMIM:608091
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis, Limitation of joint mobility, Tracheomalacia	ORPHA:93259
Achondroplasia	Recurrent otitis media, Limited elbow extension, Generalized joint hypermobility, Hydrocephalus, ...	OMIM:100800
Genitopalatocardiac Syndrome	Hydrocephalus, Downslanted palpebral fissures	ORPHA:2075
Fryns Syndrome	Joint contracture of the hand, Polysplenia, Large for gestational age, Blepharophimosis, Narrow p...	OMIM:229850
Trisomy 8P	Astigmatism, Multiple joint contractures, Upslanted palpebral fissure, Heterochromia iridis, Hydr...	ORPHA:264450
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Neonatal death	OMIM:314390
Cerebral Visual Impairment	Hydrocephalus, Infectious encephalitis	ORPHA:447788
Pseudotrisomy 13 Syndrome	Hydrocephalus, Encephalocele, Holoprosencephaly, Upslanted palpebral fissure	OMIM:264480
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Downslanted palpebral fissures, Multiple joint contractures, Epica...	OMIM:305450
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Cataract, Cyanosis	OMIM:261740
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Sparse eyebrow, Ventriculomegaly, Downslanted palpebral fissures, Large for gestational age, Upsl...	OMIM:617011
Digeorge Syndrome	Short palpebral fissure, Recurrent pneumonia, Recurrent otitis media, Obesity, Splenomegaly, Recu...	OMIM:188400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Limitation of joint mobility, Elbow flexion contracture, Proximal tibial and fibular fusion, Hume...	ORPHA:95699
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Megaloblastic anemia, Hydrocephalus, Thrombocytopenia, Neutropenia, Stomatitis	ORPHA:79282
Arachnoiditis	Hydrocephalus	ORPHA:137817
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Myelopathy, Hydrocephalus, Cortical cataract, Retinal hamartoma	ORPHA:637
Endocrine-Cerebroosteodysplasia	Holoprosencephaly, Ventriculomegaly, Ankyloblepharon, Hydrocephalus	OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Communicating hydrocephalus, Opacificat...	OMIM:615287
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Failure to thrive	ORPHA:395
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia, Hydrocephalus	ORPHA:220295
Microphthalmia With Limb Anomalies	Synostosis of joints, Synostosis of carpal bones, Failure to thrive, Camptodactyly of 2nd-5th fin...	ORPHA:1106
Rhombencephalosynapsis	Ventriculomegaly, Hydrocephalus	ORPHA:59315
Neurooculorenal Syndrome	Highly arched eyebrow, Ventriculomegaly, Iris atrophy, Hydrocephalus, Aqueductal stenosis	OMIM:620305
Fontaine Progeroid Syndrome	Coronal craniosynostosis, Short palpebral fissure, Aplastic/hypoplastic lacrimal glands, Failure ...	OMIM:612289
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Downslanted palpebral fissures, Carpal syn...	OMIM:218600
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Long palpebral fissure, Communicating hydrocephalus, Upslanted p...	ORPHA:1780
Acrofacial Dysostosis 1, Nager Type	Downslanted palpebral fissures, Lower eyelid coloboma, Limited elbow extension, Radioulnar synost...	OMIM:154400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Hooded eyelid, Downslanted palpebr...	OMIM:619841
Fraser Syndrome 3	Cryptophthalmos, Hydrocephalus, Stillbirth	OMIM:617667
Microphthalmia, Syndromic 3	Sclerocornea, Cataract, Vertebral fusion	OMIM:206900
Loeys-Dietz Syndrome 1	Ectopia lentis, Downslanted palpebral fissures, Joint hypermobility, Eosinophilic infiltration of...	OMIM:609192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Ventriculomegaly, Megalocornea, Hydrocephalus, Buphthalmos, Opacification of the cornea...	OMIM:253280
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly...	OMIM:619895
Heterotaxy, Visceral, 1, X-Linked	Block vertebrae, Failure to thrive, Polysplenia, Myelomeningocele, Cyanosis, Aqueductal stenosis,...	OMIM:306955
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly, Encephalocele, Polysplenia	ORPHA:1335
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Sparse eyebrow, Shoulder flexion contracture, Failure to thrive,...	OMIM:210710
Distal 22Q11.2 Microduplication Syndrome	Downslanted palpebral fissures, Camptodactyly of finger, Upslanted palpebral fissure, Camptodacty...	ORPHA:261337
Orofaciodigital Syndrome Ii	Telecanthus, Hydrocephalus	OMIM:252100
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Anencephaly, Hydrocephalus, Spina bifida, Hol...	ORPHA:63259
Laurin-Sandrow Syndrome	Tarsal synostosis, Limitation of joint mobility, Hydrocephalus	ORPHA:2378
Costello Syndrome	Ventriculomegaly, Failure to thrive, Tracheomalacia, Downslanted palpebral fissures, Limited elbo...	OMIM:218040
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Granuloma, Joint hypermobility, Epicanthus, Lisch nodules, Hydrocephalus, Sinusitis, Bone cyst	ORPHA:363700
Chromosome 1P36 Deletion Syndrome, Distal	Cataract, Horizontal eyebrow, Lateral ventricle dilatation, Downslanted palpebral fissures, Campt...	OMIM:607872
Peters-Plus Syndrome	Cataract, Ventriculomegaly, Peters anomaly, Upslanted palpebral fissure, Decreased body weight, L...	OMIM:261540
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Otopalatodigital Syndrome, Type Ii	Cataract, Stillbirth, Elbow contracture, Downslanted palpebral fissures, Sclerosis of skull base,...	OMIM:304120
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Microcornea, Ventriculomegaly, Failure to thrive, Orbital cyst, Scle...	OMIM:607932
Fanconi Anemia, Complementation Group L	Anemia, Hydrocephalus, Upslanted palpebral fissure	OMIM:614083
Dextrocardia	Abnormality of the spleen, Hydrocephalus	ORPHA:1666
Orofaciodigital Syndrome I	Downslanted palpebral fissures, Myelomeningocele, Telecanthus, Epicanthus, Hydrocephalus	OMIM:311200
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Ectopia lentis, Joint hypermobility, Eosinophilic infiltration of ...	OMIM:610168
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Ventriculomegaly, Hydrocephalus	ORPHA:228308
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Upper eyelid entropion, Ventriculomegaly, Hydrocephalus, Joint hypermobility	ORPHA:457284
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus, Cataract	OMIM:273395
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hydrocephalus	OMIM:219730
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ventriculomegaly, Keratitis, Eczematoid dermatitis, Recurrent skin infections, Corneal neovascula...	OMIM:308205
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Hydrocephalus	ORPHA:157
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Coffin-Siris Syndrome 12	Highly arched eyebrow, Failure to thrive, Downslanted palpebral fissures, Long eyelashes, Thick e...	OMIM:619325
Isotretinoin-Like Syndrome	Hydrocephalus, Upslanted palpebral fissure	ORPHA:2306
Yunis-Varon Syndrome	Cataract, Sparse eyebrow, Aspiration pneumonia, Failure to thrive in infancy, Upslanted palpebral...	OMIM:216340
Craniopharyngioma	Hydrocephalus, Obesity, Increased susceptibility to fractures	ORPHA:54595
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules	ORPHA:25
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Holoprosencephaly 9	Alobar holoprosencephaly, Absent lacrimal punctum, Epicanthus, Ptosis, Hydrocephalus, Holoprosenc...	OMIM:610829
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Meningocele, Dermal sinus tract	OMIM:600145
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Anencephaly, Hydrocephalus, Occipital meningocele	OMIM:616546
Neurofibromatosis, Type I	Lisch nodules, Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Medulloblastoma	Hydrocephalus	ORPHA:616
Tetrasomy 9P	Downslanted palpebral fissures, Glue ear, Myositis, Epicanthus, Hydrocephalus, Arthritis, Dandy-W...	ORPHA:3310
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Semilobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia, Hydrocephalus, Flexion contracture, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia, Hydrocephalus, Flexion contracture, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Failure to thrive, Aspiration pneumonia, Hydrocephalus, Flexion contracture, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia, Hydrocephalus, Flexion contracture, Neural tube defect	ORPHA:93924
Focal Dermal Hypoplasia	Ectopia lentis, Myelomeningocele, Aniridia, Joint hypermobility, Hydrocephalus, Spina bifida occu...	OMIM:305600
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:2166
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Failure to thrive, Lateral ventricle dilatation, Upslanted palpebral fissure, Splenom...	OMIM:619534
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Hypoplasminogenemia	Cervicitis, Periodontitis, Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Meningioma	Obesity, Hydrocephalus	ORPHA:2495
Lymphangioleiomyomatosis	Hydrocephalus, Retinal hamartoma	ORPHA:538
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus	OMIM:313850
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Simpson-Golabi-Behmel Syndrome, Type 1	Polysplenia, Downslanted palpebral fissures, Splenomegaly, Epicanthus, Hydrocephalus, Two carpal ...	OMIM:312870
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Tuberous Sclerosis Complex	Subependymal nodules, Retinal astrocytic hamartoma, Retinal hamartoma, Noncommunicating hydroceph...	ORPHA:805
Hydrolethalus Syndrome 1	Accessory spleen, Stillbirth, Anencephaly, Dandy-Walker malformation, Severe hydrocephalus	OMIM:236680
Craniofacial Microsomia 1	Block vertebrae, Occipital encephalocele, Upper eyelid coloboma, Ptosis, Blepharophimosis, Hydroc...	OMIM:164210
Townes-Brocks Syndrome 1	Hydrocephalus, Metatarsal synostosis, Holoprosencephaly, Small for gestational age	OMIM:107480
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Exstrophy-Epispadias Complex	Abnormality of the orbital region, Hydrocephalus, Spina bifida	ORPHA:322

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prmt3

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prmt3.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Prmt3^{tm1a(EUCOMM)Wtsi} Prmt3^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Prmt3^{tm1a(EUCOMM)Wtsi}	PMC6459510
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.	PLoS genetics (October 2014)	Prmt3^{tm1a(EUCOMM)Wtsi}	PMC4207618

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Prmt3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Prmt3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Prmt3 MGI:1919224

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Prmt3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data