Gene Summary

Name:
protein arginine N-methyltransferase 3
Synonyms:
2010005E20Rik,  Hrmt1l3,  2410018A17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland 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

Legacy Phenotype Associated Images

View all 163 images

View all 6 images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hypertrophic Neuropathy And Cataract
Cataract, Increased CSF protein concentration OMIM:239900
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity OMIM:277950
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Thrombocytopenia, Corneal opacity ORPHA:1980
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epicanthus, Epiphyseal stippling, Cataract, Downslanted palpebral fissures OMIM:614882
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Corneal opacity ORPHA:2432
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Gómez-López-Hernández Syndrome
Telecanthus, Hydrocephalus, Corneal opacity ORPHA:1532
Kleeblattschaedel
Recurrent corneal erosions, Craniosynostosis, Elbow ankylosis, Hydrocephalus OMIM:148800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Mucolipidosis Type Iii
Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density, Corneal opacity, Acne ORPHA:577
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Dermoids Of Cornea
Corneal opacity OMIM:304730
Galactosialidosis
Corneal opacity ORPHA:351
Pineocytoma
Increased CSF protein concentration, Abnormal eyelid morphology, Hydrocephalus ORPHA:251912
1Q21.1 Microduplication Syndrome
Hydrocephalus, Cataract, Arthrogryposis multiplex congenita, Failure to thrive ORPHA:250994
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Orbital craniosynostosis, Dandy-Walker malformation ORPHA:1538
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Corneal opacity ORPHA:2370
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Conjunctival dermolipoma, Corneal... OMIM:180550
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Decreased body weight, Reduced bone mineral density, Small for gestational age, Delayed... OMIM:618392
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Ptosis, Corneal opacity, Iris coloboma ORPHA:1473
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Hydrocephalus ORPHA:1008
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Infantile Sialic Acid Storage Disease
Osteopenia, Failure to thrive, Splenomegaly, Epicanthus, Ptosis, Hydrocephalus, Vacuolated lympho... OMIM:269920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Morquio Syndrome C
Corneal opacity OMIM:252300
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... OMIM:608470
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Limitation of joint mobility, Camptodactyly of finger, Megalocornea, ... ORPHA:2741
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Flynn-Aird Syndrome
Cataract, Increased CSF protein concentration, Joint stiffness, Increased bone density with cysti... OMIM:136300
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ... OMIM:602562
Brachyolmia Type 1, Hobaek Type
Osteopenia, Opacification of the corneal stroma, Corneal opacity OMIM:271530
Atypical Teratoid Rhabdoid Tumor
Limitation of joint mobility, Hydrocephalus ORPHA:99966
Erythrokeratodermia Variabilis
Cataract, Weight loss, Skin rash, Corneal opacity ORPHA:317
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Sialidosis Type 2
Osteoporosis, Flexion contracture, Splenomegaly, Corneal opacity ORPHA:87876
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Osteolysis involving... OMIM:166300
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Alpha-Mannosidosis
Synostosis of joints, Cataract, Craniofacial hyperostosis, Splenomegaly, Arthritis, Corneal opaci... ORPHA:61
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Small for gestational age, Generalized bone demineralization... OMIM:215250
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Ocular anterior segment dysgenesis, Dev... ORPHA:324416
Metatropic Dysplasia
Cataract, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly o... ORPHA:2635
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Telecanthus, Corneal opacity, Craniosynostosis, Communicating hydrocephalus, Developmen... ORPHA:1064
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Congenital Hydrocephalus
Ventriculomegaly, Downslanted palpebral fissures, Colpocephaly, Hydrocephalus, Iris coloboma ORPHA:2185
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Developmental cataract, Corneal opacity OMIM:618815
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Downslanted palpebral fissures, Upslanted palpebral fi... OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Ventriculomegaly, Hydrocephalus, Corneal opacity, Dandy-Walker malformation OMIM:613153
Al-Gazali Syndrome
Osteopenia, Recurrent pneumonia, Failure to thrive, Recurrent fractures, Wrist flexion contractur... OMIM:609465
Congenital Rubella Syndrome
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Skin rash, Thrombocytopenia, Corneal opac... ORPHA:290
Methylmalonic Acidemia With Homocystinuria
Skin rash, Hydrocephalus, Failure to thrive ORPHA:26
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid... ORPHA:1794
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Hurler-Scheie Syndrome
Rhinitis, Limitation of joint mobility, Splenomegaly, Corneal opacity ORPHA:93476
Biemond Syndrome Ii
Iris coloboma, Hydrocephalus OMIM:210350
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Corneal opacity, Osteopor... ORPHA:2788
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss of eyelash... ORPHA:163934
Alpha-Mannosidosis, Adult Form
Pneumonia, Cataract, Osteopenia, Hepatosplenomegaly, Pancytopenia, Corneal opacity ORPHA:309288
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Martsolf Syndrome 2
Cataract, Lateral ventricle dilatation, Camptodactyly of finger, Decreased body weight, Developme... OMIM:619420
Intellectual Developmental Disorder, Autosomal Recessive 68
Broad eyebrow, Hydrocephalus, Narrow palpebral fissure, Small for gestational age, Synophrys OMIM:618302
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619302
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly, Neonatal death OMIM:273680
Nasu-Hakola Disease
Ventriculomegaly, Acute leukemia, Limitation of joint mobility, Bone cyst, Hydrocephalus, Reduced... ORPHA:2770
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Downslanted palpebral fissures, Joint hypermobility, Epicanthus, Hydrocephalus,... OMIM:602501
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619301
Immunodeficiency 112
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Increased T cell count, Dec... OMIM:620449
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventriculomegaly, Downslanted palpebral fissures, Leukopenia, Telecanthus, Astigmatism, Thrombocy... OMIM:301056
Harel-Yoon Syndrome
Upslanted palpebral fissure, Developmental cataract, Corneal opacity OMIM:617183
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Multiple Sulfatase Deficiency
Cataract, Joint stiffness, Thick eyebrow, Splenomegaly, Hydrocephalus, Corneal opacity ORPHA:585
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa... OMIM:259710
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus OMIM:300884
Leukodystrophy, Hypomyelinating, 24
Cataract, Flexion contracture, Ventriculomegaly, B lymphocytopenia OMIM:619851
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract OMIM:618660
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Dermatitis, Atopic
Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Conjunctiviti... OMIM:603165
Short Syndrome
Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil morphology, Joint hypermobility... ORPHA:3163
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Joint hypermobility, Keratoglobus, Sclerocornea, ... OMIM:614170
Bartsocas-Papas Syndrome
Synostosis of joints, Popliteal pterygium, Ankyloblepharon, Sparse or absent eyelashes, Eyelid co... ORPHA:1234
Intellectual Developmental Disorder, Autosomal Dominant 70
Highly arched eyebrow, Short palpebral fissure, Cataract, Failure to thrive, Downslanted palpebra... OMIM:620157
Lowry-Maclean Syndrome
Osteopenia, Megalocornea, Downslanted palpebral fissures, Hydrocephalus, Corneal opacity, Osteopo... ORPHA:2409
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Ventriculomegaly, Neutropenia, Downslanted palpebral fissures ORPHA:2643
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Posterior embryotoxon, Hydrocephalus, Narrow palpebral fissure, Dandy-W... OMIM:220220
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Downslanted palpebral fissures, Abnormal pupil morphology, Hyperost... ORPHA:2969
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Bartsocas-Papas Syndrome 2
Axillary pterygium, Ankyloblepharon, Popliteal pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Epicanthus, Craniosynostosis, Hydrocephalus, Downslanted palpebral fissures ORPHA:1516
Wilson Disease
Failure to thrive, Kayser-Fleischer ring, Hepatitis, Pathologic fracture, Acute hepatitis, Spleno... ORPHA:905
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Corneal opacity, Blepharitis OMIM:602400
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Flexion contracture ORPHA:272
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Eczematoid dermatitis, Downslanted palpebral fissures, Camptodac... ORPHA:284160
Alexander Disease
Increased CSF protein concentration, Microcoria, Hydrocephalus OMIM:203450
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Generalized osteosclerosi... ORPHA:53
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture... OMIM:259700
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Cataract, Reduced bone mineral density, Recurrent fractures ORPHA:2410
Griscelli Syndrome
Iris hypopigmentation, Hepatitis, Abnormal eyebrow morphology, Leukopenia, Splenomegaly, Encephal... ORPHA:381
Nasopalpebral Lipoma-Coloboma Syndrome
Hamartoma of the orbital region, Sparse eyebrow, Cataract, Lacrimal punctal atresia, Telecanthus,... ORPHA:2399
Mucolipidosis Type Iii Alpha/Beta
Recurrent otitis media, Joint stiffness, Epicanthus, Corneal opacity, Generalized osteoporosis, F... ORPHA:423461
Lissencephaly 5
Cataract, Occipital encephalocele, Hydrocephalus OMIM:615191
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cataract, Acrocyanosis, Corneal opacity ORPHA:1867
Zellweger Syndrome
Cataract, Failure to thrive, Epiphyseal stippling, Upslanted palpebral fissure, Epicanthus, Poste... ORPHA:912
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Edinburgh Malformation Syndrome
Failure to thrive, Joint stiffness, Hydrocephalus, Brushfield spots, Synophrys ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Flexion contracture, Hydrocephalus, Developmental cataract OMIM:613155
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cataract, Ventriculomegaly, Failure to thrive, Long eyelashes, Thick eyebrow, Upslanted palpebral... OMIM:619833
Linear Verrucous Nevus Syndrome
Cataract, Iris coloboma, Abnormal cornea morphology, Ventriculomegaly, Reduced bone mineral densi... ORPHA:2611
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Obesity, Hydrocephalus OMIM:601794
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, Ocular albinism, Hydrocephalus, Abnormality ... ORPHA:2720
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Astigmatism OMIM:248000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Abnormally prominent line of Schwalbe, Telecanthus, Rieger anomaly, Hydrocephal... OMIM:109120
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Eyelid coloboma, Ptosis, Hydrocephalus, Corneal opacity, Iris coloboma, Dandy-W... ORPHA:1647
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Long palpebral fissure, Highly arched eyebrow, Ptosis, Corneal opacity OMIM:620469
Crouzon Syndrome
Multiple suture craniosynostosis, Ptosis, Hydrocephalus, Conjunctivitis, Iris coloboma ORPHA:207
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Cataract, Epiphyseal stippling, Hydrocephalus ORPHA:1914
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Hydrocephalus, Thrombocytopenia, Anemia ORPHA:858
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hepatosplenomegaly, Pancytopenia, Splenomegaly, CSF lymphocytic pleiocytosis, H... OMIM:610333
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Corneal opacity ORPHA:281090
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Corneal opacity OMIM:618961
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Abnormal proportion of naive CD4 T cells, Failure to thrive, L... ORPHA:1830
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Precocious costochondral ossification OMIM:271630
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Peters anomaly, Downslanted palpebral fissures, Telecanthus, Axenfeld an... OMIM:612582
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hydrocephalus OMIM:619470
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Inflammation of the large intestine, Failure to thrive, Eczematoid dermatitis, Chroni... ORPHA:98813
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus, Joint hypermobility OMIM:236660
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Upslanted palpebral fissure, Corneal opacity ORPHA:496790
Hurler Syndrome
Cranial hyperostosis, Bilateral ptosis, Calvarial hyperostosis, Recurrent otitis media, Hepatospl... OMIM:607014
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Ventriculomegaly, Downslanted palpebral fissures, Cam... OMIM:175700
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Rheumatoid arthritis, Band keratopathy, Failure to thrive, Joint hypermobility, Knee os... ORPHA:85410
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Decreased body weight, Shallow orbits, Osteopetrosis, Iris transilluminati... OMIM:617306
Farber Disease
Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia, Arthritis, Flex... ORPHA:333
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Scheie Syndrome
Limitation of joint mobility, Joint stiffness, Splenomegaly, Corneal opacity, Rhinitis ORPHA:93474
Frontofacionasal Dysplasia
Iris coloboma, Microcornea, Cataract, Telecanthus, Absent inner eyelashes, Encephalocele, Upper e... ORPHA:1791
Mietens Syndrome
Cataract, Microcornea, Joint stiffness, Elbow ankylosis, Corneal opacity, Sclerocornea ORPHA:2557
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Tenorio Syndrome
Osteopenia, Ventriculomegaly, Recurrent pneumonia, Telecanthus, Thick eyebrow, Recurrent aphthous... OMIM:616260
Alpha-Mannosidosis, Infantile Form
Pneumonia, Highly arched eyebrow, Cataract, Osteopenia, Cranial hyperostosis, Hepatosplenomegaly,... ORPHA:309282
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Telecanthus, Hydrocephalus ORPHA:380
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Sjogren-Larsson Syndrome
Flexion contracture, Astigmatism, Opacification of the corneal epithelium OMIM:270200
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Horizontal eyebrow, Failure to thrive, Long eyelashes, Hydrocephalus, Chronic o... OMIM:609757
Congenital Syphilis
Pneumonia, Cataract, Periostitis, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Sy... ORPHA:499009
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Ventriculomegaly, Stillbirth, Extramedullary hematopoiesis, Cranial hyperostosis, Hepa... OMIM:259720
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Long eyelashes, Unilambdoid synostosis OMIM:618577
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Ectopia lentis, Limitation of joint mobility, Encephalocele, Shall... OMIM:224400
Wagro Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Ptosis, Corneal opacity OMIM:612469
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Shallow orbits, Hydrocephalus, Co... OMIM:112240
Rabin-Pappas Syndrome
Highly arched eyebrow, Short palpebral fissure, Cataract, Tracheomalacia, Downslanted palpebral f... OMIM:620155
Distal Deletion 6P
Ventriculomegaly, Ectopia pupillae, Hypoplasia of the iris, Downslanted palpebral fissures, Epica... ORPHA:96125
3Q29 Microduplication Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Camptodactyly of toe, Sclerocornea, ... ORPHA:251038
Cystinosis
Rickets, Failure to thrive, Corneal opacity ORPHA:213
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Splenomegaly, Hydrocephalus, Corneal opacity OMIM:272200
Gm1-Gangliosidosis, Type Iii
Ventriculomegaly, Opacification of the corneal stroma, Splenomegaly OMIM:230650
Congenital Sialidosis Type 2
Cataract, Hepatosplenomegaly, Hydrocephalus, Developmental cataract, Corneal opacity ORPHA:93400
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Ankle flexion contracture, Ankylosis of feet small joints, Carpal osteolysis, Periphe... OMIM:259600
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Microphthalmia/Coloboma 9
Microcornea, Ptosis, Ocular anterior segment dysgenesis, Narrow palpebral fissure, Sclerocornea, ... OMIM:615145
Temple Syndrome
Recurrent otitis media, Obesity, Joint hypermobility, Hydrocephalus, Truncal obesity, Flexion con... OMIM:616222
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Abnormal eyelid morphology, Hydrocephalus ORPHA:251915
Gracile Bone Dysplasia
Failure to thrive, Aniridia, Decreased skull ossification, Hydrocephalus, Asplenia, Hypoplastic s... OMIM:602361
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ventriculomegaly, Band keratopathy, Hypoplasia of the iris, Hydrocephalus, Ocular anterior segmen... OMIM:614195
Fried Syndrome
Hydrocephalus ORPHA:85335
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic ... ORPHA:2169
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Limitation of joint mobility, Ocular albinism, Ectropion, Cornea... ORPHA:2719
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Radioulnar synostosis, Hydrocephalus, Blepharophimosis, Craniosynostosis ORPHA:171839
Walker-Warburg Syndrome
Cataract, Microcornea, Ventriculomegaly, Hydrocephalus, Corneal opacity, Iris coloboma, Dandy-Wal... ORPHA:899
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Interstitial pneumonitis, Enterocolitis, Decreased proportion of class-switched memory ... OMIM:614878
Sialidosis Type 1
Cataract, Splenomegaly, Corneal opacity ORPHA:812
Mucopolysaccharidosis Type 7
Hepatitis, Joint stiffness, Epiphyseal stippling, Splenomegaly, Corneal opacity ORPHA:584
Cutis Laxa, Autosomal Dominant 3
Joint hypermobility, Osteopenia, Developmental cataract, Corneal opacity OMIM:616603
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Muscle-Eye-Brain Disease
Cataract, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Corneal neovascu... OMIM:617388
H Syndrome
Corneal arcus, Bronchiectasis, Osteolysis, Microcytic anemia, Abnormal eyebrow morphology, Hepato... ORPHA:168569
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Failure to thrive, Increased CSF lactate, Increased CSF lysine concentration, C... OMIM:616034
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Generalized Eruptive Keratoacanthoma
Ectropion, Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology ORPHA:411777
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Failure to thrive, Camptodactyly of finger, Aspiration pneu... ORPHA:354
Adams-Oliver Syndrome 2
Hydrocephalus, Developmental cataract, Lateral ventricle dilatation, Narrow palpebral fissure OMIM:614219
Mucopolysaccharidosis, Type Vii
Limitation of joint mobility, Recurrent otitis media, Joint stiffness, Thick eyebrow, Splenomegal... OMIM:253220
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Keratitis, Shallow orbits, Sagittal cranio... OMIM:123500
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon OMIM:611038
Craniotelencephalic Dysplasia
Craniosynostosis, Hydrocephalus, Frontal encephalocele ORPHA:1528
Fish-Eye Disease
Splenomegaly, Corneal opacity ORPHA:79292
Pseudo-Torch Syndrome 1
Cataract, Ventriculomegaly, Increased CSF protein concentration, Failure to thrive, Splenomegaly,... OMIM:251290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Hydrocephalus OMIM:615181
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Delayed pubic bone ossification, Hydrocephalus, Flexion contractu... OMIM:613330
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Joint contracture of the hand, Failure to thrive, Opacification of the corneal stroma, ... OMIM:214110
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... ORPHA:98957
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... ORPHA:169154
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Emanuel Syndrome
Ventriculomegaly, Failure to thrive, Recurrent otitis media, Astigmatism, Upslanted palpebral fis... OMIM:609029
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Telecanthus, Hydrocephalus, Opacification of the corneal stroma, Anterior chamber sy... OMIM:601499
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Ventriculomegaly, Abnormality iris morphology, Occipital encephalocele, Megalocornea, D... ORPHA:370959
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Joint stiffness, Joint hypermobility, Corneal opacity, Osteoporosis, Opacifi... OMIM:253010
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Microcornea, Cataract,... ORPHA:141099
Mucopolysaccharidosis Type 3
Cataract, Craniofacial hyperostosis, Ventriculomegaly, Aspiration pneumonia, Joint stiffness, Spl... ORPHA:581
Incontinentia Pigmenti
Cataract, Keratitis, Camptodactyly of finger, Skin rash, Infectious encephalitis, Eosinophilia, C... ORPHA:464
Jacobsen Syndrome
Microcornea, Failure to thrive, Telecanthus, Eyelid coloboma, Epicanthus, Ptosis, Hydrocephalus, ... OMIM:147791
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia, Failure to thrive OMIM:245200
Triploidy
Cataract, Decreased skull ossification, Hydrocephalus, Meningocele, Holoprosencephaly, Iris coloboma ORPHA:3376
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Conjunctivitis, Blepharitis OMIM:612843
Familial Dysautonomia
Osteolysis, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Acrocyanosis, Recur... ORPHA:1764
Alexander Disease Type I
Hydrocephalus, Cachexia, Failure to thrive ORPHA:363717
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Ventriculomegaly, Astigmatism, Corneal opacity ORPHA:2323
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Telecanthus, Hydrocephalus ORPHA:83473
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Decreased proport... ORPHA:911
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Hydrocephalus, Stillbirth, Sclerocornea,... OMIM:243605
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Ventriculomegaly, Bone cyst, Abnormal nasolacrimal system morphology, ... ORPHA:2396
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Schimke Immunoosseous Dysplasia
Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Astigmatism, Thrombocytopenia,... OMIM:242900
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus OMIM:612247
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Astigmatism, Upper eyelid coloboma, Abnormal eyelid morphology, Scleroc... ORPHA:2095
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Developmental cataract OMIM:600559
Biemond Syndrome Type 2
Obesity, Hydrocephalus ORPHA:141333
Mosaic Variegated Aneuploidy Syndrome
Cataract, Ventriculomegaly, Downslanted palpebral fissures, Epicanthus, Corneal opacity, Holopros... ORPHA:1052
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Gaucher Disease
Pancytopenia, Abnormal bone structure, Osteopenia, Osteomyelitis, Splenic rupture, Corneal opacit... ORPHA:355
6P22 Microdeletion Syndrome
Epicanthus, Hydrocephalus ORPHA:251046
Emanuel Syndrome
Ventriculomegaly, Failure to thrive, Hooded eyelid, Recurrent otitis media, Astigmatism, Upslante... ORPHA:96170
Tbck-Related Intellectual Disability Syndrome
Ventriculomegaly, Eczematoid dermatitis, Thick eyebrow, Upslanted palpebral fissure, Epicanthus, ... ORPHA:488632
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Inflammation of the large intestine, Failure to thrive, Pancytopenia, Splenomeg... OMIM:614576
De Barsy Syndrome
Cataract, Osteopenia, Failure to thrive, Downslanted palpebral fissures, Generalized joint hyperm... ORPHA:2962
Hurler-Scheie Syndrome
Camptodactyly of finger, Joint stiffness, Contracture of the distal interphalangeal joint of the ... OMIM:607015
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Joint hypermobility, Epicanthus, Decreased corneal thick... OMIM:229200
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Recurrent fractures, Corneal opacity OMIM:163200
Distal Triplication 15Q
Telecanthus, Large for gestational age, Hydrocephalus, Camptodactyly, Craniosynostosis, Flexion c... ORPHA:314588
Fucosidosis
Acrocyanosis, Failure to thrive, Corneal opacity ORPHA:349
Lathosterolosis
Cataract, Microcornea, Failure to thrive, Downslanted palpebral fissures, Epicanthus, Abnormal pl... ORPHA:46059
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Corneal stromal edema, Flexion contracture of finger, Shallow orbits, Joint co... OMIM:601812
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Malar rash, Splenomegaly, Skin rash, Hydrocephalus, Neutropenia, T... ORPHA:398124
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Cataract, Osteopenia, Thick eyebrow, Joint hypermobility, Ptosis... OMIM:616007
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Craniofacial osteosclerosis, Increased skull ossification, Long eyelashes, Epic... OMIM:618476
B4Galt1-Cdg
Inflammatory abnormality of the skin, Splenomegaly, Hydrocephalus, Small for gestational age, Dan... ORPHA:79332
Juvenile Sialidosis Type 2
Cataract, Hepatosplenomegaly, Corneal opacity ORPHA:93399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Ventriculomegaly, Peters anomaly, Congenital contracture, Occipital encephalocele, Mega... OMIM:236670
3Mc Syndrome 3
Highly arched eyebrow, Radioulnar synostosis, Ptosis, Blepharophimosis, Corneal opacity, Epicanth... OMIM:248340
Hurler Syndrome
Limitation of joint mobility, Camptodactyly of finger, Thick eyebrow, Splenomegaly, Hydrocephalus... ORPHA:93473
Trisomy 17P
Cataract, Downslanted palpebral fissures, Broad eyebrow, Ptosis, Hydrocephalus, Flexion contracture ORPHA:261290
Mucopolysaccharidosis Type 1
Joint stiffness, Splenomegaly, Sinusitis, Hydrocephalus, Corneal opacity, Chronic otitis media ORPHA:579
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Olmsted Syndrome 1
Flexion contracture, Opacification of the corneal stroma, Corneal opacity OMIM:614594
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Sagittal craniosynostosis, Hydrocepha... ORPHA:459061
Otopalatodigital Syndrome Type 2
Cataract, Synostosis of carpal bones, Failure to thrive, Downslanted palpebral fissures, Carpal s... ORPHA:90652
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Ventriculomegaly, Failure to thrive, Corneal opacity, Anemia, Craniosynostosis, Recurrent skin in... ORPHA:79396
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Inflammatory abnormality of the eye, Ptosis, Hydrocephalus ORPHA:93262
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Spina bifida occul... OMIM:612109
Thanatophoric Dysplasia
Ventriculomegaly, Downslanted palpebral fissures, Joint stiffness, Joint hypermobility, Hydroceph... ORPHA:2655
Aymé-Gripp Syndrome
Cataract, Ventriculomegaly, Limitation of joint mobility, Bilateral ptosis, Downslanted palpebral... ORPHA:1272
Mirage Syndrome
Aspiration pneumonia, Radial club hand, Lymphopenia, Leukopenia, Decreased body weight, Hydroceph... OMIM:617053
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss... OMIM:617321
Mosaic Trisomy 9
Ventriculomegaly, Limitation of joint mobility, Camptodactyly of finger, Upslanted palpebral fiss... ORPHA:99776
Ciliary Dyskinesia, Primary, 1
Pneumonia, Abnormal cornea morphology, Chronic otitis media, Chronic sinusitis, Chronic rhinitis,... OMIM:244400
Tangier Disease
Ectropion, Opacification of the corneal stroma, Splenomegaly, Cicatricial ectropion OMIM:205400
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Microcornea, Joint contracture of the hand... OMIM:201000
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Aniridia 1
Cataract, Ectopia lentis, Ectopia pupillae, Bilateral ptosis, Hypoplasia of the iris, Aniridia, C... OMIM:106210
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Eyelid coloboma, Hydrocephalus, Sclerocornea, Limbal dermoid, Dandy-Walke... OMIM:613001
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Pterygium, Hydrocephalus, Joint contracture, Dandy-Walker malf... OMIM:225790
Alkuraya-Kucinskas Syndrome
Cataract, Ventriculomegaly, Upslanted palpebral fissure, Hydrocephalus, Camptodactyly, Arthrogryp... OMIM:617822
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Hydrocephalus, Iris coloboma, Abnormally ossified vertebrae ORPHA:3301
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Irregular tarsal ossification, Corneal dystrophy, Subepithelial corne... OMIM:221800
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Hydrocephalus ORPHA:2183
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Downslanted palpebral fissures... OMIM:616294
Hajdu-Cheney Syndrome
Osteopenia, Foot acroosteolysis, Failure to thrive, Downslanted palpebral fissures, Pathologic fr... OMIM:102500
Adams-Oliver Syndrome
Cataract, Failure to thrive, Leukopenia, Encephalocele, Hydrocephalus, Thrombocytopenia ORPHA:974
Hajdu-Cheney Syndrome
Cataract, Osteopenia, Coarse metaphyseal trabecularization, Failure to thrive, Periodontitis, Dow... ORPHA:955
Mucopolysaccharidosis Type 6
Failure to thrive, Joint stiffness, Splenomegaly, Sinusitis, Opacification of the corneal stroma,... ORPHA:583
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus OMIM:616521
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Epicanthus, Hydrocephalus, Aplasia/Hypoplasia of the eyebrow ORPHA:2701
Whipple Disease
Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Cachexia, Hydrocephalus, Arthritis, Myo... ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Posterior synechiae of the anterior chamber, Lateral v... OMIM:613154
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Camptodactyly of finger, Downslanted palpebral fissures, Bicoronal synosto... OMIM:619951
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Flexion contracture, Hydrocephalus ORPHA:99947
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Upslanted palpebral fissure OMIM:300558
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Failure to thrive, Downslanted palpebral fissures, Joint hypermobility, Hydrocephalus OMIM:612940
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Temple Syndrome
Hydrocephalus, Obesity, Small for gestational age ORPHA:254516
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Limitation of joint mobility, Encephalocele, Joint hypermobility, Hydrocephalus... ORPHA:93274
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanthus, Sclerocornea OMIM:615877
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hydrocephalus, Anemia, Pericarditis ORPHA:163596
Congenital Disorder Of Deglycosylation 1
Decreased CSF 5-hydroxyindolacetic acid concentration, Decreased CSF albumin concentration, Decre... OMIM:615273
Mucopolysaccharidosis Type 4
Joint hypermobility, Reduced bone mineral density, Corneal opacity ORPHA:582
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Ptosis, Camptodact... OMIM:614230
Congenital Myopathy 22A, Classic
Bilateral ptosis, Downslanted palpebral fissures, Hip contracture, Neonatal death, Ptosis, Achill... OMIM:620351
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Bresek Syndrome
Iris coloboma, Hydrocephalus, Neonatal death ORPHA:85284
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Peroxisome Biogenesis Disorder 12A (Zellweger)
Epicanthus, Abnormal cortical bone morphology, Hydrocephalus, Decreased body weight OMIM:614886
Marfanoid-Progeroid-Lipodystrophy Syndrome
Ectopia lentis, Downslanted palpebral fissures, Keratoconjunctivitis sicca, Hydrocephalus, Cranio... OMIM:616914
Sturge-Weber Syndrome
Hyperostosis, Conjunctival telangiectasia, Heterochromia iridis, Hydrocephalus, Iris coloboma, Co... ORPHA:3205
Vacterl Association With Hydrocephalus
Radial club hand, Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Failure to thrive, Thin eyebrow, Telecanthus, Corneal opacity, Synophrys ORPHA:364577
Mosaic Variegated Aneuploidy Syndrome 1
Cataract, Ventriculomegaly, Upslanted palpebral fissure, Epicanthus, Hydrocephalus, Leukemia, Sma... OMIM:257300
Houge-Janssens Syndrome 2
Joint hypermobility, Ventriculomegaly, Hydrocephalus, Downslanted palpebral fissures OMIM:616362
Ophthalmomandibulomelic Dysplasia
Decreased mobility 3rd-5th fingers, Opacification of the corneal stroma, Megalocornea OMIM:164900
Muenke Syndrome
Coronal craniosynostosis, Carpal synostosis, Ptosis, Hydrocephalus, Tarsal synostosis ORPHA:53271
Dubowitz Syndrome
Cataract, Sparse lateral eyebrow, Eczematoid dermatitis, Telecanthus, Joint hypermobility, Spina ... ORPHA:235
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cataract, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Corneal neovasculari... OMIM:158310
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Holoprosencephaly, Iris coloboma, Hydrocephalus ORPHA:77298
Microphthalmia/Coloboma 12
Ventriculomegaly, Peters anomaly, Corneal opacity OMIM:120200
Shigellosis
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Failure to thrive in infancy, L... ORPHA:810
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Immunodeficiency 92
Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp... OMIM:619652
Desmosterolosis
Ventriculomegaly, Failure to thrive, Downslanted palpebral fissures, Splenomegaly, Epicanthus, Os... ORPHA:35107
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Ectropion, Camptodactyly of finger... ORPHA:2908
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Downslanted palpebral fissures, Colpocephaly, Hydrocephalus, Communicating hydr... OMIM:615219
Pelvis-Shoulder Dysplasia
Microcornea, Short palpebral fissure, Hydranencephaly, Camptodactyly of finger, Hydrocephalus, Sp... ORPHA:2839
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Flexion contracture, Hydrocephalus OMIM:615249
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Cogan Syndrome
Keratitis, Leukocytosis, Episcleritis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt... ORPHA:1467
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Spondyloepiphyseal Dysplasia, Maroteaux Type
Generalized osteoporosis, Opacification of the corneal stroma, Small joint hypermobilty OMIM:184095
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Posterior subcapsular cataract, Megalocornea, Downslanted palpebral fissures, Elbow f... ORPHA:536471
Neurocardiofaciodigital Syndrome
Cataract, Sparse eyebrow, Failure to thrive, Lateral ventricle dilatation, Dilated fourth ventric... OMIM:619869
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Opacification of the corneal stroma, Downslanted palpebral fissures OMIM:601853
Houge-Janssens Syndrome 1
Ventriculomegaly, Ptosis, Hydrocephalus, Downslanted palpebral fissures OMIM:616355
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Osteomyelitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Failure to thrive, Eczematoid dermatitis, Camptodactyly of finger, Thin eyebrow, Episc... ORPHA:2273
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly, Obesity, Splenomegaly OMIM:615630
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Communicating hydrocephalus, Thrombocytopenia ORPHA:1237
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Aase-Smith Syndrome I
Flexion contracture, Ptosis, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Downslanted palpebral fissures, Hip contracture, Hydrocephalus, Anemia, Flexion contrac... ORPHA:3042
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Blau Syndrome
Cataract, Flexion contracture of toe, Band keratopathy, Uveitis, Eczematoid dermatitis, Nongranul... OMIM:186580
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... ORPHA:139402
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss, Hydrocephalus, Anemia, Reduced bone mineral density, Recurrent fr... OMIM:619377
Desmosterolosis
Joint contracture of the hand, Ventriculomegaly, Failure to thrive, Downslanted palpebral fissure... OMIM:602398
Plasminogen Deficiency, Type I
Nephritis, Ventriculomegaly, Periodontitis, Hydrocephalus, Conjunctivitis, Dandy-Walker malformation OMIM:217090
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Moebius Syndrome
Epicanthus, Ptosis, Corneal opacity, Arthrogryposis multiplex congenita, Blepharitis ORPHA:570
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Knee flexion contracture, Long palpebral fissure, Ptosis, Hydrocephalus OMIM:603387
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Ventriculomegaly, Chronic otitis media, Periodontitis, Failure to thrive, ... ORPHA:534
Fabry Disease
Cataract, Conjunctival telangiectasia, Corneal opacity, Arthritis, Cornea verticillata, Anemia, R... ORPHA:324
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Congenital contracture, Colpocephaly, Hydrocephalus, Narrow palpebral fissure, ... OMIM:620156
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Pterygium, Encephalocele, Hydrocephalus, Developmental cataract, Fl... ORPHA:1865
Chime Syndrome
Acute leukemia, Upslanted palpebral fissure, Epicanthus, Ptosis, Corneal opacity, Osteolysis ORPHA:3474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Ventriculomegaly, Congenital contracture, Peters anomaly, Encephalocele, Hydrocephalus,... OMIM:613150
Ifap Syndrome 2
Cataract, Posterior blepharitis, Keratitis, Angular cheilitis, Keratoconjunctivitis sicca OMIM:619016
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Hydranencephaly, Dilated third ventricle, Tracheomalacia, Lateral ventricl... OMIM:620371
Cardiofaciocutaneous Syndrome 1
Osteopenia, Palpebral thickening, Atopic dermatitis, Failure to thrive, Downslanted palpebral fis... OMIM:115150
Icf Syndrome
Lymphopenia, Communicating hydrocephalus, Epicanthus, Anemia, Abnormality of neutrophils ORPHA:2268
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Posterior uveitis, Hypopyon, Panuveitis, Posterior synechiae of ... ORPHA:209959
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Generalized osteoporosis, Osteopenia, Downslanted palpebral fissures, Elbow flexion contracture, ... OMIM:245600
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Lateral ventricle dilatation, Failure to thrive, Lacrimal duct atresia OMIM:300952
Coccidioidomycosis
Hypoglycorrhachia, Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Folli... ORPHA:228123
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Pneumonia, Joint stiffness, Splenomegaly, Hydrocephalus, Corneal opacity, Fl... OMIM:253200
Histiocytoid Cardiomyopathy
Failure to thrive, Megalocornea, Cyanosis, Corneal opacity, Hydrocephalus, Congenital aphakia ORPHA:137675
Chromosome 17P13.1 Deletion Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Elbow flexion contracture, Telecanthus, Kn... OMIM:613776
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Ventriculomegaly, Abnormality of the spleen, Hepatosplenomegaly, Pancytop... ORPHA:2072
Thrombocytopenia-Absent Radius Syndrome
Cataract, Carpal synostosis, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Ptosis, Seborrheic d... OMIM:274000
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Encephalocele, Ptosis, Hydrocephalus, Iris coloboma ORPHA:2318
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Joint stiffness, Holoprosencephaly, Hydrocephalus ORPHA:2182
Generalized Pustular Psoriasis
Cheilitis, Lymphopenia, Obesity, Leukocytosis, Palmoplantar pustulosis, Pustule, Erythroderma, Ar... ORPHA:247353
1Q44 Microdeletion Syndrome
Ventriculomegaly, Telecanthus, Upslanted palpebral fissure, Epicanthus, Hydrocephalus, Synophrys ORPHA:238769
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Epicanthus, Neonatal epiphyseal stippling, Blue irides, Hydrocephalus, Calv... OMIM:101800
Joubert Syndrome 14
Highly arched eyebrow, Downslanted palpebral fissures, Encephalocele, Epicanthus, Ptosis, Hydroce... OMIM:614424
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Osteopenia, Osteolysis, Erythroid hyperplasia, Splenomegaly, Loss of eye... ORPHA:95159
Neurofibromatosis Type 1
Chronic myelogenous leukemia, Cataract, Osteopenia, Joint stiffness, Heterochromia iridis, Lisch ... ORPHA:636
1Q21.1 Microdeletion Syndrome
Cataract, Failure to thrive, Joint hypermobility, Epicanthus, Hydrocephalus, Iris coloboma ORPHA:250989
Osteogenesis Imperfecta
Osteopenia, Ventriculomegaly, Fractures of the long bones, Recurrent fractures, Abnormal cortical... ORPHA:666
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Epicanthus, Hydrocephalus, Meningocele, Holoprosencephaly, Anen... ORPHA:1908
Fanconi Anemia
Cataract, Short palpebral fissure, Ventriculomegaly, Leukopenia, Upslanted palpebral fissure, Alm... ORPHA:84
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Encephalocele, Ptosis, Hydrocephalus, Iris coloboma ORPHA:220497
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Hec Syndrome
Communicating hydrocephalus, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Cousin Syndrome
Short palpebral fissure, Joint contracture of the hand, Microcornea, Hydranencephaly, Humeroradia... OMIM:260660
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Cerebrooculonasal Syndrome
Sparse eyebrow, Ventriculomegaly, Encephalocele, Sparse eyelashes, Epicanthus, Ptosis, Hydrocepha... OMIM:605627
Joubert Syndrome
Highly arched eyebrow, Encephalocele, Ptosis, Hydrocephalus, Iris coloboma ORPHA:475
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Upslanted palpebral fissure, Narrow palpebral fissure, Noncommunicating hydrocephal... OMIM:619320
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Joint hypermobility ORPHA:2181
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Monosomy 9Q22.3
Cataract, Ventriculomegaly, Downslanted palpebral fissures, Large for gestational age, Joint hype... ORPHA:77301
Onychotrichodysplasia And Neutropenia
Curly eyelashes, Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Chronic neutropen... OMIM:258360
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Failure to thrive, Lateral ventricle dilatation, Recurrent otitis media,... OMIM:619575
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Tetrasomy 5P
Failure to thrive, Cyanosis, Upslanted palpebral fissure, Epicanthus, Hydrocephalus ORPHA:3309
Focal Dermal Hypoplasia
Ectopia lentis, Coarse metaphyseal trabecularization, Hypoplasia of the iris, Camptodactyly of fi... ORPHA:2092
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Mucolipidosis Ii Alpha/Beta
Osteopenia, Sparse eyebrow, Recurrent pneumonia, Limitation of joint mobility, Failure to thrive,... OMIM:252500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Cataract, Ventriculomegaly, Buphthalmos OMIM:616538
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma OMIM:256540
Knobloch Syndrome
Cataract, Ectopia lentis, Occipital encephalocele, Joint hypermobility, Epicanthus, Hydrocephalus ORPHA:1571
Mucopolysaccharidosis, Type Ii