Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (751 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	Osteolysis involving tarsal bones, Corneal opacity, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Bilateral Striopallidodentate Calcinosis	Ventriculomegaly, Corneal opacity, Thrombocytopenia	ORPHA:1980
Peroxisome Biogenesis Disorder 10A (Zellweger)	Epiphyseal stippling, Epicanthus, Cataract, Downslanted palpebral fissures	OMIM:614882
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity, Large for gestational age	ORPHA:2432
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Kleeblattschaedel	Craniosynostosis, Hydrocephalus, Elbow ankylosis, Recurrent corneal erosions	OMIM:148800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Gómez-López-Hernández Syndrome	Telecanthus, Corneal opacity, Hydrocephalus	ORPHA:1532
Mucolipidosis Type Iii	Craniofacial hyperostosis, Corneal opacity, Acne, Joint stiffness, Reduced bone mineral density	ORPHA:577
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Galactosialidosis	Corneal opacity	ORPHA:351
Pineocytoma	Hydrocephalus, Increased CSF protein concentration, Abnormal eyelid morphology	ORPHA:251912
1Q21.1 Microduplication Syndrome	Arthrogryposis multiplex congenita, Failure to thrive, Cataract, Hydrocephalus	ORPHA:250994
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis	ORPHA:1538
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis	ORPHA:1067
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Reduced bone mineral density	ORPHA:2370
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma, Ptosis	ORPHA:1473
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal...	OMIM:618392
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Hydrocephalus, Periodontitis	ORPHA:1008
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Infantile Sialic Acid Storage Disease	Osteopenia, Epicanthus, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Failure to thrive, P...	OMIM:269920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	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
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Radioulnar synostosis, Ab...	ORPHA:2741
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Limitation of joint mobility	ORPHA:99966
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis...	OMIM:602562
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Flynn-Aird Syndrome	Increased bone mineral density, Cataract, Joint stiffness, Osteoporosis, Increased bone density w...	OMIM:136300
Erythrokeratodermia Variabilis	Skin rash, Cataract, Corneal opacity, Weight loss	ORPHA:317
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Corneal opacity, Osteolysis involving tarsal bones, Metatarsal osteolysis, Metacarpal...	OMIM:166300
Sialidosis Type 2	Splenomegaly, Flexion contracture, Corneal opacity, Osteoporosis	ORPHA:87876
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	Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, Arthritis, Chronic otitis med...	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	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Developmental cataract, Ocular anterior segment dysgenesi...	ORPHA:324416
Metatropic Dysplasia	Cataract, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Hydrocephal...	ORPHA:2635
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Telecanthus, Corneal opacity, Craniosynostosis, Developmental glauco...	ORPHA:1064
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Small for gestational age, Opacification of the corneal stroma...	OMIM:215250
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Upslanted palpebral fissu...	OMIM:152950
Congenital Hydrocephalus	Hydrocephalus, Colpocephaly, Downslanted palpebral fissures, Iris coloboma, Ventriculomegaly	ORPHA:2185
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	OMIM:613153
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Flexion contracture, Corneal opacity, Developmental cataract	OMIM:618815
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morphology...	ORPHA:1794
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Skin rash	ORPHA:26
Congenital Rubella Syndrome	Cataract, Corneal opacity, Skin rash, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Throm...	ORPHA:290
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Biemond Syndrome Ii	Hydrocephalus, Iris coloboma	OMIM:210350
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Hurler-Scheie Syndrome	Splenomegaly, Rhinitis, Limitation of joint mobility, Corneal opacity	ORPHA:93476
Alpha-Mannosidosis, Adult Form	Osteopenia, Pancytopenia, Cataract, Corneal opacity, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Synophrys, Hydrocephalus, Lobar holoprosencephaly, Ups...	OMIM:609637
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Corneal opacity, Osteoporosis, Increased susceptibility to fractures	ORPHA:2788
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Martsolf Syndrome 2	Cataract, Camptodactyly of finger, Developmental cataract, Lateral ventricle dilatation, Decrease...	OMIM:619420
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Synophrys, Hydrocephalus, Narrow palpebral fissure, Broad eyebrow	OMIM:618302
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia	OMIM:619302
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Nasu-Hakola Disease	Hydrocephalus, Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral dens...	ORPHA:2770
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Epicanthus, Hydrocephalus, Leukemia, Downslanted palpebral fissures, Ventriculomegaly	OMIM:602501
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Harel-Yoon Syndrome	Upslanted palpebral fissure, Corneal opacity, Developmental cataract	OMIM:617183
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Ventriculomegaly, Corneal opacity, Small for gestational age, Craniosynostosis, Leuk...	OMIM:301056
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Flexion contracture	OMIM:300884
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia, Cataract, Flexion contracture, Ventriculomegaly	OMIM:619851
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Joint stiffness, Splenomegaly, Hydrocephalus, Thick eyebrow	ORPHA:585
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic...	OMIM:614170
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Highly arched eyebrow, Hydrocephalus, Upslanted palpebral fissure, Failure to thrive, D...	OMIM:620157
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Narrow palpebral fissure, Posterior embryotoxon, Dandy-W...	OMIM:220220
Bartsocas-Papas Syndrome	Corneal opacity, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or absent eyelashe...	ORPHA:1234
Short Syndrome	Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal pupil morphology, Weight loss, Hypo...	ORPHA:3163
Lowry-Maclean Syndrome	Osteopenia, Corneal opacity, Craniosynostosis, Developmental glaucoma, Hydrocephalus, Osteoporosi...	ORPHA:2409
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C...	OMIM:603165
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium	OMIM:619339
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Downslanted palpebral fissures, Ventriculomegaly, Neutropenia	ORPHA:2643
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morpholog...	ORPHA:2969
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Wilson Disease	Acute hepatitis, Splenomegaly, Increased body weight, Hepatitis, Weight loss, Anemia, Kayser-Flei...	ORPHA:905
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Epicanthus, Downslanted palpebral fissures, Hydrocephalus, Craniosynostosis	ORPHA:1516
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Camptodactyly of finger, Hydrocephalus, Flexion contracture, Ventriculomegaly	ORPHA:272
Griscelli Syndrome	Encephalocele, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholo...	ORPHA:381
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis	OMIM:602400
8Q21.11 Microdeletion Syndrome	Ptosis, Epicanthus, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Eczema, Ble...	ORPHA:284160
Alexander Disease	Microcoria, Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Cataract	OMIM:615191
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Cataract, Corneal opacity, Pneumonia	ORPHA:1867
Zellweger Syndrome	Epicanthus, Cataract, Corneal opacity, Failure to thrive, Brushfield spots, Upslanted palpebral f...	ORPHA:912
Brachyolmia Type 1, Toledo Type	Precocious costochondral ossification, Opacification of the corneal stroma	OMIM:271630
Edinburgh Malformation Syndrome	Joint stiffness, Brushfield spots, Synophrys, Hydrocephalus, Failure to thrive	ORPHA:1895
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Corneal opacity, Increased susceptibility to fractures, Abnormal cornea...	ORPHA:357058
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Ventriculomegaly, Cataract, Hydrocephalus, Upslanted palpebral fis...	OMIM:619833
Linear Verrucous Nevus Syndrome	Ventriculomegaly, Cataract, Reduced bone mineral density, Abnormal cornea morphology, Iris colobo...	ORPHA:2611
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Corneal opacity, Hydrocephalus, Eyelid coloboma, Iris coloboma, Dandy-Walker ma...	ORPHA:1647
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Telecanthus, Hydrocephalus, Absent extraocular muscles, Ventriculomegaly, Abnorma...	OMIM:109120
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Cataract, Obesity	OMIM:601794
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Abnormality of neutrophils, Hydrocephalus, Ocular albinism, Reduced bone mineral densit...	ORPHA:2720
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Myelomeningocele, Cataract, Hydrocephalus	ORPHA:1914
Congenital Toxoplasmosis	Ventriculomegaly, Failure to thrive in infancy, Hydrocephalus, Anemia, Thrombocytopenia	ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Flexion contracture, Developmental cataract	OMIM:613155
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Coarse metaphyseal trabecularization	OMIM:618961
Gorlin Syndrome	Vertebral fusion, Epicanthus, Cataract, Telecanthus, Hydrocephalus, Iris coloboma	ORPHA:377
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Aicardi-Goutieres Syndrome 4	Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic ...	OMIM:610333
Crouzon Syndrome	Hydrocephalus, Multiple suture craniosynostosis, Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Acute leukemia	ORPHA:281090
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Joint hypermobility, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rh...	ORPHA:85410
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Corneal opacity, Small for gestational age, Minimal change glomerulonephritis,...	ORPHA:1830
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Epicanthus, Telecanthus, Dandy-Walker malformation, Hydrocephalus, Axenfeld anomaly...	OMIM:612582
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint laxity, Hydrocephalus	OMIM:236660
Farber Disease	Corneal opacity, Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthrit...	ORPHA:333
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Elbow flexion contracture	OMIM:619470
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Eczema, Increased T cell count, Chronic mucocutaneous candidiasis, Inflammation of th...	ORPHA:98813
Hurler Syndrome	Corneal opacity, Joint stiffness, Bilateral ptosis, Splenomegaly, Flexion contracture, Cranial hy...	OMIM:607014
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Upslanted palpebral fissure, Cataract, Corneal opacity	ORPHA:496790
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Microcornea, Iris transillumination defect, Osteopetros...	OMIM:617306
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Microcornea, Elbow ankylosis	ORPHA:2557
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Scheie Syndrome	Corneal opacity, Joint stiffness, Splenomegaly, Limitation of joint mobility, Rhinitis	ORPHA:93474
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Frontofacionasal Dysplasia	Encephalocele, Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, ...	ORPHA:1791
Sjogren-Larsson Syndrome	Astigmatism, Flexion contracture, Opacification of the corneal epithelium	OMIM:270200
Tenorio Syndrome	Osteopenia, Joint laxity, Telecanthus, Ventriculomegaly, Hydrocephalus, Recurrent pneumonia, Kera...	OMIM:616260
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Cataract, Corneal opacity, Communicating hydrocephalus, C...	ORPHA:309282
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Hydrocephalus, Long eyelashes, Horizontal eyebrow, Chronic otitis medi...	OMIM:609757
Greig Cephalopolysyndactyly Syndrome	Telecanthus, Hydrocephalus, Craniosynostosis	ORPHA:380
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Ventriculomegaly, Thr...	OMIM:259720
Rabin-Pappas Syndrome	Cataract, Failure to thrive in infancy, Highly arched eyebrow, Hydrocephalus, Obesity, Upslanted ...	OMIM:620155
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Wagro Syndrome	Cataract, Corneal opacity, Obesity, Aniridia, Downslanted palpebral fissures, Ptosis	OMIM:612469
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Cystinosis	Failure to thrive, Corneal opacity, Rickets	ORPHA:213
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Long eyelashes, Unilambdoid synostosis, Ventriculomegaly	OMIM:618577
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Craniosynostosis, Obesity, Aniridia, Iris coloboma, Downslanted palpebral...	ORPHA:251038
Congenital Sialidosis Type 2	Cataract, Corneal opacity, Hydrocephalus, Hepatosplenomegaly, Developmental cataract	ORPHA:93400
Temple Syndrome	Small for gestational age, Overweight, Hydrocephalus, Flexion contracture, Obesity, Truncal obesi...	OMIM:616222
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Ectopia lentis, Lens luxation, Hydrocephalus, Limitation of joint mobility, Advanc...	OMIM:224400
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration, Abnormal eyelid morphology	ORPHA:251915
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col...	OMIM:615145
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalan...	OMIM:259600
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switc...	OMIM:614878
Greig Cephalopolysyndactyly Syndrome	Craniosynostosis, Hydrocephalus, Camptodactyly of toe, Joint contracture of the hand, Downslanted...	OMIM:175700
Multiple Sulfatase Deficiency	Corneal opacity, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Decreased skull ossification, Aniridia, Hypoplastic spleen, Failure to t...	OMIM:602361
Sialidosis Type 1	Splenomegaly, Cataract, Corneal opacity	ORPHA:812
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Craniosynostosis, Hydrocephalus, Obesity, Radioulnar synostosis, Blepharophimosis	ORPHA:171839
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Failure t...	OMIM:616034
Fried Syndrome	Hydrocephalus	ORPHA:85335
Cole-Carpenter Syndrome 1	Osteopenia, Communicating hydrocephalus, Recurrent fractures, Hydrocephalus, Reduced bone mineral...	OMIM:112240
Scheie Syndrome	Corneal opacity	OMIM:607016
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ectropion, Limitation of joint mobility, Ocular albinism, Dandy-Walker...	ORPHA:2719
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis, Keratoconjunc...	OMIM:617388
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Hydrocephalus, Osteoporosis, Increased mean corpuscular volume, ...	ORPHA:2169
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Muscle-Eye-Brain Disease	Hydrocephalus, Cataract, Meningocele, Holoprosencephaly	ORPHA:588
Walker-Warburg Syndrome	Ventriculomegaly, Cataract, Corneal opacity, Hydrocephalus, Microcornea, Iris coloboma, Dandy-Wal...	ORPHA:899
Krabbe Disease	Hydrocephalus, Failure to thrive, Increased CSF protein concentration, Autoimmune thrombocytopenia	OMIM:245200
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Gm1 Gangliosidosis	Corneal opacity, Camptodactyly of finger, Joint stiffness, Splenomegaly, Hepatosplenomegaly, Weig...	ORPHA:354
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Corneal opacity, Joint laxity, Developmental cataract	OMIM:616603
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim...	OMIM:614700
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
H Syndrome	Abnormal eyebrow morphology, Psoriasiform dermatitis, Recurrent fractures, Microcytic anemia, Hyd...	ORPHA:168569
Gm1-Gangliosidosis, Type Iii	Ventriculomegaly, Opacification of the corneal stroma	OMIM:230650
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Hydrocephalus, Hypoplasia of the iris, Anterior synechiae of the anterior chamb...	OMIM:614195
Mucopolysaccharidosis Type 7	Corneal opacity, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling	ORPHA:584
Adams-Oliver Syndrome 2	Narrow palpebral fissure, Hydrocephalus, Lateral ventricle dilatation, Developmental cataract	OMIM:614219
Mucopolysaccharidosis, Type Vii	Epicanthus, Corneal opacity, Joint stiffness, Splenomegaly, Hydrocephalus, Flexion contracture, L...	OMIM:253220
Microphthalmia, Syndromic 16	Ankyloblepharon, Sclerocornea	OMIM:611038
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Craniosynostosis	ORPHA:1528
Fish-Eye Disease	Splenomegaly, Corneal opacity	ORPHA:79292
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Small for gestational age, Hydrocephalus, Flexion contracture, De...	OMIM:613330
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Failure to thrive, Brushfield spots, Upslanted palpebral f...	OMIM:214110
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Emanuel Syndrome	Ventriculomegaly, Hydrocephalus, Upslanted palpebral fissure, Astigmatism, Recurrent sinusitis, C...	OMIM:609029
Crouzon Syndrome	Sagittal craniosynostosis, Keratitis, Hydrocephalus, Conjunctivitis, Lambdoidal craniosynostosis,...	OMIM:123500
Axenfeld-Rieger Syndrome, Type 2	Telecanthus, Hydrocephalus, Microcornea, Opacification of the corneal stroma, Anterior chamber sy...	OMIM:601499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Cataract	OMIM:615181
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ...	ORPHA:141099
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Cataract, Hydrocephalus, Abnormality iris morp...	ORPHA:370959
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Hydrocephalus, Flexion contracture, Nasolac...	OMIM:147791
Sanjad-Sakati Syndrome	Ventriculomegaly, Astigmatism, Corneal opacity, Patchy osteosclerosis	ORPHA:2323
Pseudo-Torch Syndrome 1	Ventriculomegaly, Cataract, Splenomegaly, Opacification of the corneal stroma, Failure to thrive,...	OMIM:251290
Triploidy	Cataract, Hydrocephalus, Meningocele, Holoprosencephaly, Decreased skull ossification, Iris coloboma	ORPHA:3376
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Incontinentia Pigmenti	Cataract, Corneal opacity, Camptodactyly of finger, Eosinophilia, Skin rash, Keratitis, Osteolysi...	ORPHA:464
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Cachexia	ORPHA:363717
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Hydrocephalus, Microcornea, Stillbirth, Peters anomaly,...	OMIM:243605
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyelashes, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Blepharitis	OMIM:612843
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Familial Dysautonomia	Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal erosion, Osteolysis, Acr...	ORPHA:1764
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Telecanthus, Hydrocephalus	ORPHA:83473
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Cataract, Corneal opacity, Joint stiffness, Splenomegaly, Synophrys, F...	ORPHA:581
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Small for gestational age, Thrombocytopenia, Abnormal T cell morphology...	OMIM:242900
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Upper eyelid coloboma, Astigmatism, Coronal craniosynos...	ORPHA:2095
Mucopolysaccharidosis, Type Ivb	Joint laxity, Corneal opacity, Joint stiffness, Osteoporosis, Cervical myelopathy, Opacification ...	OMIM:253010
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Corneal opacity, Recurrent fractures, ...	ORPHA:355
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Corneal opacity, Recurrent fractures	OMIM:163200
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Biemond Syndrome Type 2	Hydrocephalus, Obesity	ORPHA:141333
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
6P22 Microdeletion Syndrome	Epicanthus, Hydrocephalus	ORPHA:251046
Lcat Deficiency	Hemolytic anemia, Corneal opacity	ORPHA:650
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Developmental cataract	OMIM:600559
Mosaic Variegated Aneuploidy Syndrome	Epicanthus, Cataract, Corneal opacity, Ventriculomegaly, Osteolysis, Acute lymphoblastic leukemia...	ORPHA:1052
Hurler-Scheie Syndrome	Corneal opacity, Camptodactyly of finger, Joint stiffness, Splenomegaly, Contracture of the dista...	OMIM:607015
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Inflammation of the larg...	OMIM:614576
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Ventriculomegaly, Corneal opacity, Eczema, Synophrys, Osteoporosis, Upslanted palpebr...	ORPHA:488632
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eye...	ORPHA:2396
Emanuel Syndrome	Ventriculomegaly, Multiple joint contractures, Hooded eyelid, Hydrocephalus, Upslanted palpebral ...	ORPHA:96170
Distal Triplication 15Q	Telecanthus, Corneal dystrophy, Craniosynostosis, Large for gestational age, Hydrocephalus, Flexi...	ORPHA:314588
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis	OMIM:612247
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Ventriculomegaly, Increased skull ossification, Craniofacial osteosclerosis, Hydrocep...	OMIM:618476
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Radioulnar synostosis, Blepharophimosis, Epicanthus inver...	OMIM:248340
Brittle Cornea Syndrome 1	Keratoconus, Joint laxity, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased cornea...	OMIM:229200
De Barsy Syndrome	Osteopenia, Epicanthus, Cataract, Corneal opacity, Generalized joint laxity, Failure to thrive, D...	ORPHA:2962
Lathosterolosis	Epicanthus, Cataract, Meningocele, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea...	ORPHA:46059
Central Precocious Puberty In Male	Hydrocephalus, Acne	ORPHA:649929
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:93399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Cataract, Corneal opacity, Meningoencephalocele, Hydro...	OMIM:236670
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Corneal opacity, Recurrent fractures, Osteoporosis, Corneal stromal edema, Ost...	OMIM:601812
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Thick eyebrow, Cataract, Delayed epiphyseal ossification, Flexion contracture, Hydroc...	OMIM:616007
B4Galt1-Cdg	Inflammatory abnormality of the skin, Small for gestational age, Splenomegaly, Hydrocephalus, Dan...	ORPHA:79332
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash, Splenomegaly...	ORPHA:398124
Fucosidosis	Failure to thrive, Acrocyanosis, Corneal opacity	ORPHA:349
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Epicanthus, Sagittal craniosynostosis, Sparse eyebrow, Hydrocephalus, Tubulointerstitial nephriti...	ORPHA:459061
Hurler Syndrome	Corneal opacity, Camptodactyly of finger, Splenomegaly, Hydrocephalus, Limitation of joint mobili...	ORPHA:93473
Otopalatodigital Syndrome Type 2	Encephalocele, Increased bone mineral density, Cataract, Failure to thrive, Tarsal synostosis, Ca...	ORPHA:90652
Trisomy 17P	Cataract, Hydrocephalus, Flexion contracture, Downslanted palpebral fissures, Broad eyebrow, Ptosis	ORPHA:261290
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Asplenia, Bronchiectasis, Abnormal cornea morphology, Chr...	OMIM:244400
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Inflammatory abnormality of the eye, Ptosis	ORPHA:93262
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Ventriculomegaly, Corneal opacity, Recurrent skin infections, Craniosynostosis, Failure to thrive...	ORPHA:79396
Aymé-Gripp Syndrome	Pericarditis, Cataract, Craniosynostosis, Bilateral ptosis, Hydrocephalus, Limitation of joint mo...	ORPHA:1272
Mosaic Trisomy 9	Ventriculomegaly, Corneal opacity, Camptodactyly of finger, Spina bifida, Asplenia, Limitation of...	ORPHA:99776
Thanatophoric Dysplasia	Joint stiffness, Hydrocephalus, Joint hyperflexibility, Downslanted palpebral fissures, Ventricul...	ORPHA:2655
Mucopolysaccharidosis Type 6	Sinusitis, Joint stiffness, Splenomegaly, Opacification of the corneal stroma, Chronic otitis med...	ORPHA:583
Tangier Disease	Splenomegaly, Ectropion, Opacification of the corneal stroma, Cicatricial ectropion	OMIM:205400
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Cataract, Hydrocephalus, Upslanted palpebral fissure, Camptodactyly, Arthrogryp...	OMIM:617822
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Cataract, Hydrocephalus, Microcornea, Iris coloboma	ORPHA:3301
Oculoauricular Syndrome	Cataract, Sclerocornea, Spina bifida occulta, Nasolacrimal duct obstruction, Developmental catara...	OMIM:612109
Mirage Syndrome	Radial club hand, Thrombocytopenia, Hydrocephalus, Leukopenia, Aspiration pneumonia, Decreased bo...	OMIM:617053
Mucopolysaccharidosis Type 1	Sinusitis, Corneal opacity, Joint stiffness, Splenomegaly, Hydrocephalus, Chronic otitis media	ORPHA:579
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Flexion contracture, Developmental cataract, Lateral ventricle d...	OMIM:613154
Carpenter Syndrome 1	Epicanthus, Telecanthus, Sagittal craniosynostosis, Spina bifida occulta, Obesity, Microcornea, O...	OMIM:201000
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Dandy-Walke...	OMIM:613001
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Epicanthus, Telecanthus, Synophrys, Hydrocephalus, Osteoporosis, Foot a...	OMIM:102500
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Obesity	ORPHA:2183
Adams-Oliver Syndrome	Encephalocele, Cataract, Hydrocephalus, Leukopenia, Failure to thrive, Thrombocytopenia	ORPHA:974
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Joint contracture, Hydranencephaly, Pterygium, Dandy-Walker malf...	OMIM:225790
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity	OMIM:616521
Intellectual Developmental Disorder, X-Linked 30	Upslanted palpebral fissure, Hydrocephalus	OMIM:300558
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Flexion contracture	ORPHA:99947
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Epicanthus, Hydrocephalus, Aplasia/Hypoplasia of the eyebrow	ORPHA:2701
Whipple Disease	Myositis, Pericarditis, Cachexia, Splenomegaly, Hydrocephalus, Myocarditis, Uveitis, Arthritis, I...	ORPHA:3452
Temple Syndrome	Hydrocephalus, Small for gestational age, Obesity	ORPHA:254516
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Limitation of joint mobility, Joint hyperflexibility, Holoprosencep...	ORPHA:93274
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos	OMIM:615877
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Cole-Carpenter Syndrome 2	Osteopenia, Recurrent fractures, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynost...	OMIM:616294
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Hydrocephalus, Failure to thrive, Downslanted palpebral fissures, Joint hypermobility	OMIM:612940
Bresek Syndrome	Neonatal death, Hydrocephalus, Iris coloboma	ORPHA:85284
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Hajdu-Cheney Syndrome	Osteopenia, Telecanthus, Cataract, Failure to thrive, Recurrent fractures, Splenomegaly, Synophry...	ORPHA:955
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Camptodactyly, Downslanted palpebral fissures, Short palpebra...	OMIM:614230
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Lateral ventricular asymmetry, Craniosynostosis, Ectopia...	OMIM:616914
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Muenke Syndrome	Tarsal synostosis, Hydrocephalus, Carpal synostosis, Coronal craniosynostosis, Ptosis	ORPHA:53271
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Hydrocephalus, Hyperostosis, Heterochromia iridis...	ORPHA:3205
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop...	OMIM:106210
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Failure to thrive, Short palpebral fissure	ORPHA:364577
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly, Iris coloboma, Sclerocornea	ORPHA:77298
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Highly arched eyebrow, Joint hypermobility, Hydrocephalus, Leukemia, Dow...	OMIM:619951
Ophthalmomandibulomelic Dysplasia	Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma	OMIM:164900
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Stillbirth	OMIM:276950
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Ventriculomegaly, Peters anomaly	OMIM:120200
Hogue-Janssen Syndrome 2	Ventriculomegaly, Downslanted palpebral fissures, Hydrocephalus, Joint hypermobility	OMIM:616362
Peroxisome Biogenesis Disorder 12A (Zellweger)	Epicanthus, Abnormal cortical bone morphology, Hydrocephalus, Decreased body weight	OMIM:614886
Congenital Myopathy 22A, Classic	Hip contracture, Bilateral ptosis, Achilles tendon contracture, Synophrys, Osteoporosis, Normal p...	OMIM:620351
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Mosaic Variegated Aneuploidy Syndrome 1	Epicanthus, Cataract, Small for gestational age, Ventriculomegaly, Hydrocephalus, Upslanted palpe...	OMIM:257300
Dubowitz Syndrome	Ptosis, Epicanthus, Cataract, Telecanthus, Eczema, Craniosynostosis, Abnormality of neutrophils, ...	ORPHA:235
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Shigellosis	Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Myocarditis, Leukocytosis, Perit...	ORPHA:810
Congenital Disorder Of Deglycosylation 1	Corneal opacity, Decreased CSF albumin concentration, Osteoporosis, Decreased body weight, Decrea...	OMIM:615273
Mucopolysaccharidosis Type 4	Joint hyperflexibility, Corneal opacity, Reduced bone mineral density	ORPHA:582
Desmosterolosis	Epicanthus, Increased bone mineral density, Splenomegaly, Hydrocephalus, Osteopetrosis, Failure t...	ORPHA:35107
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Cataract, Flexion contracture	OMIM:615249
Immunodeficiency 92	Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato...	OMIM:158310
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Spina bifida, Hydrocephalus, Microcornea, Hydranencephaly, Iris coloboma...	ORPHA:2839
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Kindler Epidermolysis Bullosa	Corneal opacity, Camptodactyly of finger, Recurrent skin infections, Flexion contracture, Cheilit...	ORPHA:2908
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Downslanted palpebral fissures, Opacification of the corneal stroma	OMIM:601853
Houge-Janssens Syndrome 1	Hydrocephalus, Downslanted palpebral fissures, Ventriculomegaly, Ptosis	OMIM:616355
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Corneal opacity, Joint hypermobility, Sagittal craniosyn...	ORPHA:536471
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Absent eyebrow, Corneal opacity, Camptodactyly of finger, Abnormal nasolacrimal sys...	ORPHA:2273
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Hydrocephalus, Obesity, Ventriculomegaly	OMIM:615630
Insensitivity To Pain, Congenital, With Anhidrosis	Osteomyelitis, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn...	OMIM:256800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Downslanted palpebral fissures, Iris co...	OMIM:615219
Moebius Syndrome	Epicanthus, Corneal opacity, Arthrogryposis multiplex congenita, Blepharitis, Ptosis	ORPHA:570
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Eczema, Band keratopat...	OMIM:186580
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Ptosis	OMIM:147800
Oculocerebrorenal Syndrome Of Lowe	Ventriculomegaly, Cataract, Corneal opacity, Osteomalacia, Recurrent fractures, Joint stiffness, ...	ORPHA:534
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Knee flexion contracture, Long palpebral fissure, Ventriculomegaly, Ptosis	OMIM:603387
Desmosterolosis	Epicanthus, Failure to thrive, Generalized osteosclerosis, Hydrocephalus, Arthrogryposis multiple...	OMIM:602398
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Chime Syndrome	Epicanthus, Corneal opacity, Osteolysis, Acute leukemia, Upslanted palpebral fissure, Ptosis	ORPHA:3474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Hydrocephalus, Buphthalmos, Congenital contracture, Persistent pupillary...	OMIM:613150
Plasminogen Deficiency, Type I	Hydrocephalus, Conjunctivitis, Periodontitis, Dandy-Walker malformation, Nephritis, Ventriculomegaly	OMIM:217090
Lathosterolosis	Epicanthus, Cataract, Increased mean platelet volume, Acanthocytosis, Myelomeningocele, Schistocy...	OMIM:607330
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Absent eyebrow, Epicanthus, Absent eyelashes...	OMIM:115150
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca	OMIM:619016
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Cataract, Synophrys, Flexion contracture, Bone cyst, Osteolysis, Hydrocephalus, ...	ORPHA:3042
Mucolipidosis Iii Gamma	Opacification of the corneal stroma, Joint stiffness	OMIM:252605
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Flexion contracture, Limitation of joint mobility, Developmental ca...	ORPHA:1865
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Lacrimal duct atresia, Sclerocornea	OMIM:300952
Osteootohepatoenteric Syndrome	Recurrent fractures, Hydrocephalus, Weight loss, Reduced bone mineral density, Failure to thrive,...	OMIM:619377
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Spina bifida, Seborrheic dermatitis, Thrombocytopenia, L...	OMIM:274000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Ventriculomegaly, Corneal opacity, Cachexia, Abnormality of the spleen, Thrombocyto...	ORPHA:2072
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Synophrys, Narrow palpebral fissure, Congenital contracture, Colpocephaly, Ventric...	OMIM:620156
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cataract, Small for gestational age, Sclerocornea, Sparse eyebrow, Narr...	OMIM:619869
Chromosome 17P13.1 Deletion Syndrome	Joint laxity, Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, Synophrys, Hydrocepha...	OMIM:613776
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Loss of eyelashe...	ORPHA:95159
Joubert Syndrome With Oculorenal Defect	Encephalocele, Highly arched eyebrow, Hydrocephalus, Iris coloboma, Ptosis	ORPHA:2318
Icf Syndrome	Communicating hydrocephalus, Epicanthus, Abnormality of neutrophils, Lymphopenia, Anemia	ORPHA:2268
Histiocytoid Cardiomyopathy	Cyanosis, Corneal opacity, Hydrocephalus, Megalocornea, Failure to thrive, Congenital aphakia	ORPHA:137675
Generalized Pustular Psoriasis	Overweight, Pustule, Leukocytosis, Obesity, Uveitis, Cheilitis, Arthritis, Palmoplantar pustulosi...	ORPHA:247353
1Q44 Microdeletion Syndrome	Epicanthus, Telecanthus, Synophrys, Hydrocephalus, Upslanted palpebral fissure, Ventriculomegaly	ORPHA:238769
Joubert Syndrome 14	Encephalocele, Epicanthus, Highly arched eyebrow, Hydrocephalus, Meningocele, Downslanted palpebr...	OMIM:614424
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Hypoglycorrhachia, Pneumonia, Erythema nod...	ORPHA:228123
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Thick eyebrow, Recurrent fractures, Joint hypermobility, Craniosynostosis, Developmen...	OMIM:245600
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Joint stiffness	ORPHA:2182
Joubert Syndrome With Renal Defect	Encephalocele, Highly arched eyebrow, Hydrocephalus, Iris coloboma, Ptosis	ORPHA:220497
Acrodysostosis 1 With Or Without Hormone Resistance	Epicanthus, Small for gestational age, Hydrocephalus, Neonatal epiphyseal stippling, Blue irides,...	OMIM:101800
Mucopolysaccharidosis, Type Vi	Corneal opacity, Pneumonia, Joint stiffness, Splenomegaly, Hydrocephalus, Flexion contracture, Ce...	OMIM:253200
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Epicanthus, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosen...	ORPHA:1908
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Epicanthus, Cataract, Ventriculomegaly, Spina bifida,...	ORPHA:84
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
1Q21.1 Microdeletion Syndrome	Epicanthus, Cataract, Hydrocephalus, Joint hyperflexibility, Failure to thrive, Iris coloboma	ORPHA:250989
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Humeroradial synostosis, Microcornea, Narrow palpebral fissure, C...	OMIM:260660
Hec Syndrome	Communicating hydrocephalus, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Cerebrooculonasal Syndrome	Encephalocele, Epicanthus, Ventriculomegaly, Sparse eyelashes, Craniosynostosis, Sparse eyebrow, ...	OMIM:605627
Joubert Syndrome	Encephalocele, Highly arched eyebrow, Hydrocephalus, Iris coloboma, Ptosis	ORPHA:475
Osteogenesis Imperfecta	Osteopenia, Ventriculomegaly, Corneal opacity, Recurrent fractures, Small for gestational age, Fr...	ORPHA:666
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Reduced bone mineral d...	ORPHA:324
Intellectual Developmental Disorder, Autosomal Dominant 65	Synophrys, Noncommunicating hydrocephalus, Upslanted palpebral fissure, Narrow palpebral fissure,...	OMIM:619320
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Neurofibromatosis Type 1	Cataract, Corneal opacity, Recurrent fractures, Joint stiffness, Abnormal eyelid morphology, Hydr...	ORPHA:636
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Lymphocytosis, Short eye...	OMIM:258360
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Pfeiffer Syndrome	Hydrocephalus, Humeroradial synostosis, Shallow orbits, Coronal craniosynostosis, Downslanted pal...	OMIM:101600
Monosomy 9Q22.3	Epicanthus, Cataract, Large for gestational age, Hydrocephalus, Joint hyperflexibility, Downslant...	ORPHA:77301
Focal Dermal Hypoplasia	Corneal opacity, Camptodactyly of finger, Spina bifida, Ectopia lentis, Hypoplasia of the iris, I...	ORPHA:2092
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Joint hyperflexibility, Hydrocephalus	ORPHA:2181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Hydrocephalus, Cataract, Ventriculomegaly	OMIM:616538
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis,...	ORPHA:79277
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Small for gestational age, Ventriculomegaly, Hypoplasia of the iris, Opacif...	OMIM:251300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Overweight, Hydrocephalus, Lateral ventricle dilatation, Recurrent otitis medi...	OMIM:619575
3C Syndrome	Ventriculomegaly, Hydrocephalus, Downslanted palpebral fissures, Iris coloboma, Dandy-Walker malf...	ORPHA:7
Tetrasomy 5P	Epicanthus, Cyanosis, Hydrocephalus, Upslanted palpebral fissure, Failure to thrive	ORPHA:3309
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy	OMIM:207950
Peho Syndrome	Epicanthus, Palpebral edema, Hydrocephalus, Flexion contracture, Limitation of joint mobility, Ar...	ORPHA:2836
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Corneal opacity, Small for gestational age, Eczema, Astigmatism, Fai...	ORPHA:464306
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Hydrocephalus, Opacification of the corneal stroma	OMIM:231005
Mucolipidosis Ii Alpha/Beta	Osteopenia, Epicanthus, Palpebral edema, Craniosynostosis, Sparse eyebrow, Splenomegaly, Myelopat...	OMIM:252500
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Ventriculomegaly	OMIM:617866
Dyggve-Melchior-Clausen Disease	Limited knee extension, Failure to thrive, Limited elbow extension, Corneal opacity	ORPHA:239
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Absent eyebrow, Cyanosis, Corneal opacity, Joint stiffness, Lim...	ORPHA:740
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Entropion, Keratitis, Ankyloble...	ORPHA:910
Joubert Syndrome With Ocular Defect	Encephalocele, Highly arched eyebrow, Hydrocephalus, Iris coloboma, Ptosis	ORPHA:220493
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Corneal opacity, Small for gestational age, Ankle flexion contract...	ORPHA:464311
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Sparse eyelashes, Hooded eyelid, Hydrocephalus, Upslanted palpebra...	OMIM:612863
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Telecanthus, Epicanthus, Hydrocephalus, Joint hypermobility	OMIM:618590
Achondroplasia	Hip joint hypermobility, Hydrocephalus, Obesity, Hypoxemia, Knee joint hypermobility, Limited elb...	ORPHA:15
Tangier Disease	Corneal opacity, Hepatosplenomegaly, Anemia, Thrombocytopenia, Ectropion	ORPHA:31150
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Knobloch Syndrome	Occipital encephalocele, Epicanthus, Cataract, Ectopia lentis, Hydrocephalus, Joint hyperflexibility	ORPHA:1571
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Buphthalmos, Keratoconjunctivitis ...	ORPHA:495875
Holoprosencephaly	Encephalocele, Epicanthus, Failure to thrive in infancy, Highly arched eyebrow, Abnormality of th...	ORPHA:2162
Intermediate Uveitis	Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Tubulointerstitial nephrit...	ORPHA:279914
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Small for gestational age, Brushfield spots, Splenomegaly,...	OMIM:614866
Fg Syndrome Type 1	Limited elbow extension and supination, Progressive flexion contractures, Slender build, Craniosy...	ORPHA:93932
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate	ORPHA:90065
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Hypoplasia of the thymus, Chronic otitis media, Acne, Spina bifida, O...	ORPHA:567
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Cataract, Brushfield spots, Upslanted palpebral fissure, Epiphyseal stippling, Subepe...	OMIM:214100
Axial Mesodermal Dysplasia Spectrum	Limbal dermoid, Abnormality of the spleen, Hydrocephalus	ORPHA:1834
Lateral Meningocele Syndrome	Vertebral fusion, Telecanthus, Hydrocephalus, Meningocele, Sclerosis of skull base, Downslanted p...	OMIM:130720
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Telecanthus, Joint stiffness, Thrombocytopenia, Hydrocephalus, Flexion contracture, H...	ORPHA:505248
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint hyperflexibility, Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:60040
Primary Ciliary Dyskinesia	Asplenia, Hydrocephalus, Bronchiectasis, Recurrent otitis media, Polysplenia, Chronic rhinitis, C...	ORPHA:244
Mucopolysaccharidosis, Type Ii	Splenomegaly, Hydrocephalus, Flexion contracture, Recurrent pneumonia, Hepatosplenomegaly, Recurr...	OMIM:309900
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Kabuki Syndrome	Ptosis, Highly arched eyebrow, Hydrocephalus, Obesity, Microcornea, Joint hyperflexibility, Long ...	ORPHA:2322
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic...	OMIM:608710
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Telecanthus, Craniosynostosis, Hydrocephalus, Shallow orbits, Camptodac...	OMIM:182212
Apert Syndrome	Acne, Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal oss...	OMIM:101200
Autoimmune Polyendocrinopathy Type 1	Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma	ORPHA:3453
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovasculariz...	OMIM:278730
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Frontofacionasal Dysplasia	Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures...	OMIM:229400
Tetrasomy 15Q26	Hydrocephalus, Downslanted palpebral fissures, Dandy-Walker malformation, Camptodactyly	OMIM:614846
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Downslanted palpebral fissures, Dandy-Walker malformation	OMIM:220210
Sarcoidosis	Abnormal cerebrospinal fluid morphology, Increased T cell count, Uveitis, Leukopenia, Tubulointer...	ORPHA:797
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Decreased skull ossification	OMIM:300863
Fanconi Anemia, Complementation Group R	Anemia, Hydrocephalus, Radial dysplasia	OMIM:617244
Mucopolysaccharidosis, Type Iva	Joint laxity, Recurrent pneumonia, Osteoporosis, Cervical myelopathy, Opacification of the cornea...	OMIM:253000
Pettigrew Syndrome	Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Flexion contracture, Calvarial osteoscleros...	OMIM:304340
Larsen Syndrome	Joint laxity, Vertebral fusion, Corneal opacity, Multiple carpal ossification centers, Shallow or...	OMIM:150250
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ve...	OMIM:612301
Apert Syndrome	Hydrocephalus, Corneal erosion, Cervical C5/C6 vertebrae fusion, Downslanted palpebral fissures, ...	ORPHA:87
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Craniosynostosis, Hydrocephalus, Obesity, Narrow palpebral fissure, Astigmatism...	ORPHA:96121
Mosaic Trisomy 8	Arthrogryposis multiplex congenita, Limitation of joint mobility, Corneal opacity, Camptodactyly ...	ORPHA:96061
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Hydrocephalus, Upslanted palpebral fissure, Delayed ossification of carpal...	OMIM:239300
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Cataract, Hepatosplenomegaly, Stomatoc...	ORPHA:168577
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Arthritis, Iron deficiency anemia, I...	OMIM:301074
Shprintzen-Goldberg Syndrome	Osteopenia, Communicating hydrocephalus, Telecanthus, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2462
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Highly arched eyebrow, Splenomegaly, Hydrocephalus, Iris coloboma, Ptosis	ORPHA:1454
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Obesity	ORPHA:2180
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Corneal opacity, Camptodactyly of finger, Absent eyelashes, Corneal e...	ORPHA:920
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Ventriculomegaly, Abnormal eyelid morphology, Hydrocephalus, Downslanted palpebral fi...	ORPHA:1812
Basal Cell Nevus Syndrome 1	Vertebral fusion, Cataract, Spina bifida, Hydrocephalus, Orbital cyst, Irregular ossification of ...	OMIM:109400
Juvenile Xanthogranuloma	Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Cataract, Hydrocephalus, Flexion contracture, Holoprosencephaly	OMIM:253800
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Meckel Syndrome	Accessory spleen, Encephalocele, Cataract, Sclerocornea, Asplenia, Hydrocephalus, Anencephaly, Lo...	ORPHA:564
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Corneal opacity, Splenomegaly, Limitation of joint mobility, Abnorma...	ORPHA:580
Fryns Syndrome	Ventriculomegaly, Corneal opacity, Dandy-Walker malformation	ORPHA:2059
Wolf-Hirschhorn Syndrome	Epicanthus, Sclerocornea, Highly arched eyebrow, Osteoporosis, Chronic otitis media, Megalocornea...	ORPHA:280
Mend Syndrome	Cataract, Hydrocephalus, Upslanted palpebral fissure, Narrow palpebral fissure, Anterior polar ca...	OMIM:300960
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus	OMIM:615862
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, Abnorm...	ORPHA:2556
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Hydrocephalus, Polycoria, Developmental cataract, Microcornea,...	OMIM:175780
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Hemangioblastoma	Retinal capillary hemangioma, Hydrocephalus	ORPHA:252054
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8...	ORPHA:3261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Cataract, Hydrocephalus, Peters anomaly, Dandy-Walker malformation	OMIM:614643
Alexander Disease	Osteopenia, Aqueductal stenosis, Hydrocephalus, Failure to thrive, Infectious encephalitis, Ptosis	ORPHA:58
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility, Opacification of the corneal stroma	OMIM:313400
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Flexion contracture, Low...	OMIM:263650
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Limitation of ...	ORPHA:728
Cockayne Syndrome B	Small for gestational age, Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphy...	OMIM:133540
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Flexion contracture, Dandy-Walker malformation	OMIM:310400
Wilson Disease	Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Aty...	OMIM:277900
Trisomy 1Q	Hydrocephalus, Downslanted palpebral fissures, Camptodactyly of finger, Ventriculomegaly	ORPHA:261344
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Epicanthus, Ventriculomegaly, Slender build, Small for gestational age, Craniosynos...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Epicanthus, Ventriculomegaly, Slender build, Small for gestational age, Craniosynos...	ORPHA:363958
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ...	ORPHA:32960
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Failure to thrive, Short palpebral fissure	OMIM:608670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc...	OMIM:269200
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Eczema, Allergic rhinitis, Hydrocephalus, Knee flexion contracture, Sclerosis ...	OMIM:618162
Cardiofaciocutaneous Syndrome	Epicanthus, Failure to thrive in infancy, Abnormal eyelash morphology, Hydrocephalus, Sparse or a...	ORPHA:1340
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Corneal opacity, Bronchiectasis, Developmental cataract, Pyelonephritis...	ORPHA:90348
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Overweight, Hydrocephalus, Flexion contracture, Dilated third ventricle, Ventr...	ORPHA:500055
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Hydrocephalus, Colpocephaly, Peters anomaly, Iris coloboma	OMIM:309801
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Craniosynostosis, Hyperopic astigmatism	OMIM:252600
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I...	ORPHA:42775
Fraser Syndrome 1	Encephalocele, Absent eyebrow, Corneal opacity, Absent eyelashes, Myelomeningocele, Hydrocephalus...	OMIM:219000
Raine Syndrome	Increased bone mineral density, Highly arched eyebrow, Hydrocephalus, Subperiosteal bone formatio...	OMIM:259775
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint stiffness, Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoarthritis, Synovit...	ORPHA:85408
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly	OMIM:218350
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Dacryocystitis, ...	ORPHA:31204
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Hydrocephalus, Os...	ORPHA:536467
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Mydriasis, Hydrocephalus, Holoprosencephaly, Ptosis	ORPHA:2356
Mend Syndrome	Telecanthus, Cataract, Hydrocephalus, Upslanted palpebral fissure, Failure to thrive, Dandy-Walke...	ORPHA:401973
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Brain abscess, Hydrocephalus, Recurrent otitis media	OMIM:616482
Pontocerebellar Hypoplasia, Type 7	Epicanthus, Synophrys, Hydrocephalus, Ventriculomegaly	OMIM:614969
Mosaic Trisomy 1	Camptodactyly of finger, Elbow flexion contracture, Congenital bilateral ptosis, Lateral ventricl...	ORPHA:1692
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Downslanted palpebral fissures, Craniosynostosis, Ptosis	ORPHA:1555
Limb Body Wall Complex	Encephalocele, Corneal opacity, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Lens ...	ORPHA:2369
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Ankle flexion contracture, Craniosynostosis, Hydroce...	OMIM:268300
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Corneal crystals	OMIM:219900
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Epicanthus, Almond-shaped palpebral fissure, Bilateral ptosis, Synophrys, Aqueductal stenosis, Hy...	OMIM:619512
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Inflammation of the large intesti...	OMIM:617718
Fetal Akinesia Deformation Sequence 1	Hip contracture, Telecanthus, Small for gestational age, Elbow contracture, Camptodactyly of fing...	OMIM:208150
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Upslanted palpebral fissure, Spina bifida occulta	ORPHA:2437
Functioning Gonadotropic Adenoma	Osteopenia, Hydrocephalus, Osteoporosis	ORPHA:91348
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Sclerocornea, Craniosynostosis, Blepharophimosis, Elbow flexion cont...	OMIM:600920
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Epicanthus, Hydrocephalus, Narrow palpebral fissure, Downslanted palpebral fissures, Ventriculome...	OMIM:613603
Marshall-Smith Syndrome	Failure to thrive, Decreased hip abduction, Large sternal ossification centers, Recurrent fractur...	OMIM:602535
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Failure to thrive, Dandy-Walker malformation	OMIM:612938
Monosomy 18Q	Epicanthus, Hydrocephalus, Downslanted palpebral fissures, Failure to thrive, Slender build, Join...	ORPHA:1600
Antiphospholipid Syndrome, Familial	Keratitis, Scleritis, Iritis, Autoimmune thrombocytopenia	OMIM:107320
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Pneumonia, Hydrocephalus, Peritonitis, Osteolysis, Prostatitis	ORPHA:1546
Developmental And Epileptic Encephalopathy 49	Thick eyebrow, Hydrocephalus, Long eyelashes, Dandy-Walker malformation, Ventriculomegaly	OMIM:617281
15Q Overgrowth Syndrome	Telecanthus, Contracture of the proximal interphalangeal joint of the 2nd finger, Craniosynostosi...	ORPHA:314585
Apolipoprotein A-I Deficiency	Xanthelasma, Opacification of the corneal stroma	ORPHA:425
Beare-Stevenson Cutis Gyrata Syndrome	Craniosynostosis, Hydrocephalus, Limited elbow extension, Downslanted palpebral fissures, Ventric...	OMIM:123790
Dural Sinus Malformation	Myelopathy, Chemosis, Hydrocephalus	ORPHA:97339
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness, Skin rash, Iridocycliti...	ORPHA:85436
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Cataract, Corneal opacity, Camptodactyly of finger, Entropion, Lagophthalmos, Recurre...	ORPHA:3455
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Epicanthus, Bilateral ptosis, Congenital fibrosis of extraocular muscles, Lateral v...	ORPHA:300570
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Recurrent fractures, Subperiosteal bone formation, Splen...	OMIM:618188
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation	OMIM:231670
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Broad eyebrow, Ventriculomegaly, Cataract, Osteomyelitis, Palpebral edema, Overweig...	OMIM:619475
Wiedemann-Rautenstrauch Syndrome	Absent eyebrow, Dandy-Walker malformation, Cataract, Entropion, Sparse eyelashes, Small for gesta...	OMIM:264090
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly, Joint stiffness	ORPHA:1860
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Humeroradial synostosis, Flexion contracture, Lambdoidal craniosynostosis, Camptod...	OMIM:207410
Fanconi Anemia, Complementation Group B	Hydrocephalus, Aplastic anemia, Ventriculomegaly, Thrombocytopenia	OMIM:300514
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Hydrocephalus, Reticulocytopenia, Anemia, Neutropenia, B...	OMIM:227646
Osteopathia Striata With Cranial Sclerosis	Epicanthus, Failure to thrive, Hydrocephalus, Craniofacial osteosclerosis, Spina bifida occulta, ...	OMIM:300373
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Opacifica...	OMIM:601559
Williams Syndrome	Osteopenia, Chronic otitis media, Megalocornea, Spina bifida occulta, Joint laxity, Increased bon...	ORPHA:904
Peters Plus Syndrome	Ventriculomegaly, Cataract, Corneal opacity, Hydrocephalus, Microcornea, Upslanted palpebral fiss...	ORPHA:709
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus	OMIM:187600
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Rieger anomaly, Epicanthus, Small for gestational age, Highly...	OMIM:194190
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Abnormal nasolacrimal system morphology, Hydrocephalus, Cranial h...	ORPHA:2658
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Eyelid coloboma, Iris coloboma	ORPHA:268249
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Hydrocephalus, Reduced bone mineral density,...	ORPHA:667
Holoprosencephaly 7	Alobar holoprosencephaly, Synophrys, Hydrocephalus, Lobar holoprosencephaly, Upslanted palpebral ...	OMIM:610828
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia...	ORPHA:649
Isotretinoin-Like Syndrome	Upslanted palpebral fissure, Hydrocephalus, Lymphopenia	ORPHA:2306
Smith-Lemli-Opitz Syndrome	Epicanthus, Cataract, Sclerocornea, Abnormal eyelash morphology, Upslanted palpebral fissure, Hol...	ORPHA:818
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Epicanthus	ORPHA:2184
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Hydrocephalus, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:277400
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Vacterl With Hydrocephalus	Microcornea, Hydrocephalus, Aqueductal stenosis, Spina bifida	ORPHA:3412
Smith-Lemli-Opitz Syndrome	Epicanthus, Cataract, Eczema, Splenomegaly, Hydrocephalus, Epiphyseal stippling, Colpocephaly, Ho...	OMIM:270400
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Pseudoaminopterin Syndrome	Epicanthus, Highly arched eyebrow, Sagittal craniosynostosis, Limited elbow movement, Asplenia, H...	ORPHA:221120
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Anterior cham...	ORPHA:91500
Cockayne Syndrome A	Hip contracture, Cataract, Splenomegaly, Limitation of joint mobility, Ivory epiphyses of the pha...	OMIM:216400
Short-Rib Thoracic Dysplasia 12	Epicanthus, Splenomegaly, Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death	OMIM:269860
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Myelomeningocele, Hydrocephalus, Spina bifida occulta	OMIM:613686
Cole-Carpenter Syndrome	Communicating hydrocephalus, Joint hyperflexibility, Downslanted palpebral fissures, Recurrent fr...	ORPHA:2050
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity, Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint ...	ORPHA:217085
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Yunis-Varon Syndrome	Absent sternal ossification, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Hydrocepha...	ORPHA:3472
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Eczema, Pustule, Keratoconjunctivitis, Joint hyperflexibility, Opacifica...	ORPHA:2907
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity, Camptodactyly of finger, Splenomegaly, Flexion contracture, Limitation of joint ...	ORPHA:217093
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Downslanted palpebral fissures, Hydrocephalus, Ptosis	OMIM:104350
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Communicating hydrocephalus, Ventriculomegaly, Slender build, Large for gestational...	ORPHA:457359
Ciliary Dyskinesia, Primary, 43	Bronchiectasis, Chronic sinusitis, Noncommunicating hydrocephalus, Chronic rhinitis	OMIM:618699
Oculoectodermal Syndrome	Epicanthus, Microcornea, Eyelid coloboma, Astigmatism, Opacification of the corneal stroma, Limba...	OMIM:600268
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Camptodact...	OMIM:249000
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Campomelic Dysplasia	Joint laxity, Poorly ossified cervical vertebrae, Epicanthus, Absent sternal ossification, Spina ...	OMIM:114290
Marden-Walker Syndrome	Camptodactyly of finger, Joint stiffness, Hydrocephalus, Radioulnar synostosis, Blepharophimosis,...	ORPHA:2461
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Splenomegaly, Iridocyclitis, Bone cyst, Enlarged lacrimal glands, Bronchiectasis, U...	OMIM:181000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Bilateral ptosis, Thrombocytopenia, Hydrocephalus, Upsla...	ORPHA:163979
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of eyelid, Leukocytosis, Flexion contracture, Hydrocephalus, Abdominal obesity	OMIM:619321
Achondroplasia	Limited hip extension, Generalized joint laxity, Hydrocephalus, Recurrent otitis media, Limited e...	OMIM:100800
Fryns Syndrome	Large for gestational age, Narrow palpebral fissure, Stillbirth, Opacification of the corneal str...	OMIM:229850
Genitopalatocardiac Syndrome	Hydrocephalus, Downslanted palpebral fissures	ORPHA:2075
Pfeiffer Syndrome Type 2	Tracheomalacia, Hydrocephalus, Limitation of joint mobility, Aqueductal stenosis	ORPHA:93259
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus	OMIM:314390
Trisomy 8P	Multiple joint contractures, Hydrocephalus, Upslanted palpebral fissure, Astigmatism, Heterochrom...	ORPHA:264450
Cerebral Visual Impairment	Hydrocephalus, Infectious encephalitis	ORPHA:447788
Pseudotrisomy 13 Syndrome	Upslanted palpebral fissure, Hydrocephalus, Encephalocele, Holoprosencephaly	OMIM:264480
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Failure to thrive	OMIM:608091
Kabuki Syndrome 1	Hemolytic anemia, Highly arched eyebrow, Autoimmune thrombocytopenia, Sparse eyebrow, Bilateral p...	OMIM:147920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Myelopathy, Posterior subcapsular cataract, Hydrocephalus, Cortical cataract	ORPHA:637
Opitz-Kaveggia Syndrome	Epicanthus, Multiple joint contractures, Hydrocephalus, Camptodactyly, Joint contracture of the h...	OMIM:305450
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Hydrocephalus, Neutropenia, Stomatitis, Failure to thrive, Thrombocytopenia	ORPHA:79282
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Communicating hydrocephalus, Large for gestational age, Sparse eyebrow, Upslanted p...	OMIM:617011
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Failure to thrive, Rickets, Corneal crystals	ORPHA:411629
Arachnoiditis	Hydrocephalus	ORPHA:137817
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Digeorge Syndrome	Acne, Sclerocornea, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, O...	OMIM:188400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Tarsal synostosis, Craniosynostosis, Hydrocephalus, Flexion contracture, Elbow flexion contractur...	ORPHA:95699
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:395
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Cataract, Cyanosis	OMIM:261740
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Ankyloblepharon	OMIM:612651
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Skin rash, Cachexia	ORPHA:220295
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Failure to thrive, Tarsal synostosis, Hydrocephalus, Joint hyperflex...	ORPHA:1106
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Fontaine Progeroid Syndrome	Small for gestational age, Short palpebral fissure, Craniosynostosis, Synophrys, Hydrocephalus, N...	OMIM:612289
Baller-Gerold Syndrome	Epicanthus, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Hydrocephalus, L...	OMIM:218600
Thakker-Donnai Syndrome	Long palpebral fissure, Cervical C2/C3 vertebral fusion, Upslanted palpebral fissure, Communicati...	ORPHA:1780
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Hooded eyelid, Highly arched eyebrow, Sparse eyebrow, Bilateral ptos...	OMIM:619841
Neurooculorenal Syndrome	Iris atrophy, Highly arched eyebrow, Aqueductal stenosis, Hydrocephalus, Ventriculomegaly	OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Hydrocephalus, Buphthalmos, Opacification of the corneal stroma, Megalocornea, Ventricu...	OMIM:253280
Fraser Syndrome 3	Hydrocephalus, Stillbirth, Cryptophthalmos	OMIM:617667
Acrofacial Dysostosis 1, Nager Type	Sparse lower eyelashes, Aqueductal stenosis, Hydrocephalus, Lower eyelid coloboma, Absent lower e...	OMIM:154400
Microphthalmia, Syndromic 3	Vertebral fusion, Cataract, Sclerocornea	OMIM:206900
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly, Polysplenia	ORPHA:1335
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Sinusitis, Hydrocephalus, Bone cyst, Granuloma, Lisch nodules, Joint hypermobility	ORPHA:363700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebrow, Delayed epiphyse...	OMIM:210710
Heterotaxy, Visceral, 1, X-Linked	Cyanosis, Block vertebrae, Asplenia, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Polysp...	OMIM:306955
Mohr Syndrome	Telecanthus, Hydrocephalus	OMIM:252100
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Costello Syndrome	Hyperextensibility of the finger joints, Epicanthus, Limited elbow movement, Achilles tendon cont...	OMIM:218040
Chromosome 1P36 Deletion Syndrome, Distal	Epicanthus, Cataract, Camptodactyly of finger, Synophrys, Hydrocephalus, Obesity, Upslanted palpe...	OMIM:607872
Laurin-Sandrow Syndrome	Hydrocephalus, Limitation of joint mobility, Tarsal synostosis	ORPHA:2378
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Recurrent skin infections, Eczema, Keratitis, Absent eyelashes, Erythroderma, Opa...	OMIM:308205
Peters-Plus Syndrome	Joint laxity, Cataract, Limited elbow movement, Craniosynostosis, Hydrocephalus, Upslanted palpeb...	OMIM:261540
Distal 22Q11.2 Microduplication Syndrome	Epicanthus, Palpebral edema, Camptodactyly of finger, Hydrocephalus, Upslanted palpebral fissure,...	ORPHA:261337
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus, Cataract	OMIM:273395
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Fanconi Anemia, Complementation Group L	Upslanted palpebral fissure, Hydrocephalus, Anemia	OMIM:614083
Otopalatodigital Syndrome, Type Ii	Cataract, Elbow contracture, Spina bifida, Hydrocephalus, Sclerosis of skull base, Stillbirth, No...	OMIM:304120
Dextrocardia	Abnormality of the spleen, Hydrocephalus	ORPHA:1666
Microphthalmia, Syndromic 6	Sclerocornea, Orbital cyst, Microcornea, Lambdoidal craniosynostosis, Failure to thrive, Ventricu...	OMIM:607932
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Upper eyelid entropion, Hydrocephalus, Ventriculomegaly, Joint hypermobility	ORPHA:457284
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Hydrocephalus, Ventriculomegaly	ORPHA:228308
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Myelomeningocele, Hydrocephalus, Downslanted palpebral fissures	OMIM:311200
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Hydrocephalus	ORPHA:157
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess	OMIM:600145
Coffin-Siris Syndrome 12	Joint laxity, Epicanthus, Highly arched eyebrow, Synophrys, Noncommunicating hydrocephalus, Upsla...	OMIM:619325
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Yunis-Varon Syndrome	Epicanthus, Absent sternal ossification, Cataract, Sparse eyelashes, Sclerocornea, Small for gest...	OMIM:216340
Craniopharyngioma	Hydrocephalus, Obesity, Increased susceptibility to fractures	ORPHA:54595
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:616546
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida, Lisch nodules	OMIM:162200
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Medulloblastoma	Hydrocephalus	ORPHA:616
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Semilobar Holoprosencephaly	Hydrocephalus, Flexion contracture, Neural tube defect, Aspiration pneumonia, Failure to thrive	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Flexion contracture, Neural tube defect, Aspiration pneumonia, Failure to thrive	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Flexion contracture, Neural tube defect, Aspiration pneumonia, Failure to thrive	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Flexion contracture, Neural tube defect, Aspiration pneumonia, Failure to thrive	ORPHA:93924
Tetrasomy 9P	Epicanthus, Myositis, Pericarditis, Hydrocephalus, Arthritis, Downslanted palpebral fissures, Dan...	ORPHA:3310
Focal Dermal Hypoplasia	Joint laxity, Ectopia lentis, Hydrocephalus, Myelomeningocele, Aniridia, Spina bifida occulta, Ir...	OMIM:305600
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Aqueductal stenosis, Splenomegaly, Hydrocephalus, Upslanted palpebral fissure, Latera...	OMIM:619534
Loeys-Dietz Syndrome 1	Joint laxity, Eosinophilic infiltration of the esophagus, Craniosynostosis, Hydrocephalus, Campto...	OMIM:609192
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Loeys-Dietz Syndrome 2	Joint laxity, Craniosynostosis, Eosinophilic infiltration of the esophagus, Hydrocephalus, Osteop...	OMIM:610168
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Periodontitis, Dandy-Walker malformation	ORPHA:722
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Meningioma	Hydrocephalus, Obesity	ORPHA:2495
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Lymphangioleiomyomatosis	Retinal hamartoma, Hydrocephalus	ORPHA:538
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Simpson-Golabi-Behmel Syndrome, Type 1	Epicanthus, Splenomegaly, Hydrocephalus, Polysplenia, Two carpal ossification centers present at ...	OMIM:312870
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Holoprosencephaly 9	Hydrocephalus, Holoprosencephaly	OMIM:610829
Tuberous Sclerosis Complex	Retinal hamartoma, Noncommunicating hydrocephalus, Retinal astrocytic hamartoma, Subependymal nod...	ORPHA:805
Hydrolethalus Syndrome 1	Accessory spleen, Anencephaly, Stillbirth, Severe hydrocephalus, Dandy-Walker malformation	OMIM:236680
Craniofacial Microsomia 1	Occipital encephalocele, Block vertebrae, Blepharophimosis, Hydrocephalus, Upper eyelid coloboma,...	OMIM:164210
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Townes-Brocks Syndrome 1	Metatarsal synostosis, Hydrocephalus, Small for gestational age, Holoprosencephaly	OMIM:107480
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Abnormality of the orbital region	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

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

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data