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Gene: Prmt3 MGI:1919224

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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

2 Images

View images
Legacy Phenotype Associated Images
Prmt3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Prmt3tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI
Prmt3tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Prmt3tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Prmt3tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI

View all 163 images

Prmt3tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Prmt3tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Prmt3tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Prmt3tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Prmt3tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

View all 6 images

Prmt3tm1a(EUCOMM)Wtsi
eye, narrow eye opening, HOM, Male, WTSI
Prmt3tm1a(EUCOMM)Wtsi
eye, corneal opacity, HET, Female, WTSI
Prmt3tm1a(EUCOMM)Wtsi
eye, narrow eye opening, corneal opacity, HOM, Female, WTSI
Prmt3tm1a(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.

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
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Corneal opacity, Generalized osteoporosis, Osteoly... OMIM:277950
Hypertrophic Neuropathy And Cataract
Increased CSF protein, Cataract OMIM:239900
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Ventriculomegaly, Corneal opacity ORPHA:1980
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Peroxisome Biogenesis Disorder 10A (Zellweger)
Downslanted palpebral fissures, Cataract, Epiphyseal stippling, Epicanthus OMIM:614882
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Apolipoprotein A-I Deficiency
Corneal opacity, Anemia, Splenomegaly ORPHA:425
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Corneal opacity ORPHA:2432
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Hydrocephalus, Recurrent corneal erosions OMIM:148800
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Gómez-López-Hernández Syndrome
Corneal opacity, Telecanthus, Hydrocephalus ORPHA:1532
Mucolipidosis Type Iii
Craniofacial hyperostosis, Corneal opacity, Reduced bone mineral density, Joint stiffness, Acne ORPHA:577
Dermoids Of Cornea
Corneal opacity OMIM:304730
Galactosialidosis
Corneal opacity ORPHA:351
Pineocytoma
Increased CSF protein, Abnormal eyelid morphology, Hydrocephalus ORPHA:251912
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Hydrocephalus, Dandy-Walker malformation 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
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Ptosis ORPHA:1067
1Q21.1 Microduplication Syndrome
Cataract, Arthrogryposis multiplex congenita, Hydrocephalus, Failure to thrive ORPHA:250994
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Corneal opacity ORPHA:2370
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Flexion contracture, Cataract, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Ptosis ORPHA:1473
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract, Arthrogryposis multiplex congenita, Small for gestational age, Failure to thrive OMIM:212540
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Morquio Syndrome C
Corneal opacity OMIM:252300
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Synostosis of carpal bones, Corneal opacity, Mega... ORPHA:2741
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Hydrocephalus OMIM:209970
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Hydrocephalus, Abnormal eyelash morphology ORPHA:1008
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Increased bone mineral density, Increas... OMIM:136300
Atypical Teratoid Rhabdoid Tumor
Limitation of joint mobility, Hydrocephalus ORPHA:99966
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Epicanthus, Ptosis, Failure to thrive, Splenomegaly, Osteopenia, Hydrocep... OMIM:269920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Erythrokeratodermia Variabilis
Cataract, Skin rash, Corneal opacity, Weight loss ORPHA:317
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hydrocephalus OMIM:166990
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Chronic otitis media, Corneal opacity, Cataract,... ORPHA:61
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Corneal opacity, Synophrys, Conjunctivitis, Thick eyebrow, Ker... OMIM:602562
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Corneal opacity, Cataract, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Chromosome 8Q21.11 Deletion Syndrome
Blepharophimosis, Camptodactyly, Epicanthus, Opacification of the corneal stroma, Short palpebral... OMIM:614230
Sialidosis Type 2
Osteoporosis, Flexion contracture, Corneal opacity, Splenomegaly ORPHA:87876
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus OMIM:300884
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Upslanted palpebral fissure, Microcornea, Epicanthus ORPHA:2528
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Epicanthus, Corneal opacity, Cataract, Microcornea, Downslanted palp... OMIM:152950
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Generalized bone demineralization, Small for gestational age, Opacifi... OMIM:215250
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Methylmalonic Acidemia With Homocystinuria
Skin rash, Hydrocephalus, Failure to thrive ORPHA:26
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Craniosynostosis, Developmental glaucoma, Corneal opacity, Telecanthus, Communicating h... ORPHA:1064
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Ventriculomegaly, Developmental cataract, Hydrocephalus ORPHA:324416
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Congenital Rubella Syndrome
Skin rash, Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocytopenia, Cataract, Anemia, S... ORPHA:290
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Iris coloboma, Downslanted palpebral fissures, Colpocephaly ORPHA:2185
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Abnormality iris morphology, Cataract, Small for gestational age, Failur... ORPHA:1617
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormal eyelid morphology, Upslanted palpebral fissure, Abnormal eyelas... ORPHA:1794
Nasopalpebral Lipoma-Coloboma Syndrome
Lacrimal punctal atresia, Sparse eyebrow, Abnormal eyelash morphology, Corneal opacity, Cataract,... ORPHA:2399
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Flexion contracture, Corneal opacity OMIM:618815
Biemond Syndrome Ii
Iris coloboma, Hydrocephalus OMIM:210350
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Arthrogryposis multiplex congenita, Blepharophimosis, Camptodactyly, Cataract, Fail... OMIM:214150
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Joint laxity, Corneal opacity, Increased susceptibility to fractures, Osteopenia ORPHA:2788
Hurler-Scheie Syndrome
Limitation of joint mobility, Corneal opacity, Rhinitis, Splenomegaly ORPHA:93476
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract, Knee flexion contracture, Failure to thrive, Elbow flexion contracture ORPHA:171860
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Ventriculomegaly, Epicanthus, Downslanted palpebral fissures, Leukemia, Hydrocephalus OMIM:602501
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Los... ORPHA:163934
Alpha-Mannosidosis, Adult Form
Corneal opacity, Pneumonia, Pancytopenia, Cataract, Osteopenia, Hepatosplenomegaly ORPHA:309288
Amoebic Keratitis
Decreased corneal sensation, Scleritis, Abnormal corneal epithelium morphology, Corneal perforati... ORPHA:67043
Mental Retardation, Buenos Aires Type
Curly eyelashes, Long eyelashes, Ptosis, Failure to thrive, Downslanted palpebral fissures, Hydro... OMIM:249630
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Ventriculomegaly, Long eyelashes, Cataract, Microcornea ORPHA:48431
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Bone cyst, Reduced bone mineral density, Limitation of joint mob... ORPHA:2770
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Dermatitis, Atopic
Keratoconus, Allergic rhinitis, Atopic dermatitis, Cataract, Conjunctivitis, Eczema, Recurrent sk... OMIM:603165
Short Syndrome
Joint hyperflexibility, Posterior embryotoxon, Corneal opacity, Weight loss, Hypoplasia of the ir... ORPHA:3163
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Dandy-Walker Malformation With Postaxial Polydactyly
Narrow palpebral fissure, Posterior embryotoxon, Dilated fourth ventricle, Hydrocephalus, Dandy-W... OMIM:220220
Developmental And Epileptic Encephalopathy 49
Long eyelashes, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Achondroplasia
Limited elbow extension, Limited hip extension, Generalized joint laxity, Recurrent otitis media,... OMIM:100800
Multiple Sulfatase Deficiency
Corneal opacity, Cataract, Thick eyebrow, Joint stiffness, Splenomegaly, Hydrocephalus ORPHA:585
Temple Syndrome
Joint hypermobility, Overweight, Recurrent otitis media, Flexion contracture, Truncal obesity, Sm... OMIM:616222
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Maternal Uniparental Disomy Of Chromosome 1
Epiphyseal stippling, Ventriculomegaly, Pancytopenia, Cataract, Failure to thrive ORPHA:251009
Lowry-Maclean Syndrome
Osteoporosis, Craniosynostosis, Developmental glaucoma, Corneal opacity, Megalocornea, Downslante... ORPHA:2409
Craniofacial Dyssynostosis
Downslanted palpebral fissures, Craniosynostosis, Epicanthus, Hydrocephalus ORPHA:1516
Bartsocas-Papas Syndrome 2
Axillary pterygium, Ankyloblepharon, Corneal opacity, Antecubital pterygium, Popliteal pterygium OMIM:619339
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Synostosis of joints, Ankyloblepharon, Corneal opacity, Sparse... ORPHA:1234
Wilson Disease
Acute hepatitis, Weight loss, Kayser-Fleischer ring, Thrombocytopenia, Hepatitis, Pathologic frac... ORPHA:905
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Microcephalic Primordial Dwarfism, Toriello Type
Downslanted palpebral fissures, Cataract, Ventriculomegaly, Neutropenia ORPHA:2643
Galactose Epimerase Deficiency
Cataract, Weight loss, Splenomegaly ORPHA:79238
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Arthrogryposis multiplex congenita, Ventriculomegaly, Corneal opacity, Thromboc... OMIM:301056
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Upslanted palpebral fissure, Alobar holoprosencep... OMIM:609637
Isolated Optic Nerve Hypoplasia/Aplasia
Ventriculomegaly, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Anemia,... ORPHA:53
Lcat Deficiency
Hemolytic anemia, Corneal opacity, Splenomegaly ORPHA:650
Proteus-Like Syndrome
Limbal dermoid, Heterochromia iridis, Hydrocephalus, Downslanted palpebral fissures, Hyperostosis... ORPHA:2969
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Cataract, Failure to thrive ORPHA:67048
Brittle Cornea Syndrome 2
Keratoconus, Joint hypermobility, Decreased corneal thickness, Keratoglobus, Recurrent fractures,... OMIM:614170
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thr... OMIM:259700
Chromosome 17P13.1 Deletion Syndrome
Highly arched eyebrow, Joint laxity, Epicanthus, Knee flexion contracture, Downslanted palpebral ... OMIM:613776
Zellweger Syndrome
Brushfield spots, Epiphyseal stippling, Upslanted palpebral fissure, Posterior embryotoxon, Epica... ORPHA:912
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Developmental cataract, Corneal opacity OMIM:616603
Cutis Laxa, Autosomal Recessive, Type Iib
Joint hypermobility, Failure to thrive, Downslanted palpebral fissures, Osteopenia, Hydrocephalus OMIM:612940
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Camptodactyly of finger, Blepharophimosis, Epicanthus, Corneal opacity, Ca... ORPHA:284160
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse and thin eyebrow, Corneal opacity, Blepharitis OMIM:602400
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Precocious costochondral ossification OMIM:271630
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Ventriculomegaly, Absent extraocular muscles, Telecanthus, Abnormally prominent l... OMIM:109120
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, Abnormality of neutrophils, Ocular albinism, Reduced b... ORPHA:2720
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys, Joint stiffness, Failure to thrive, Hydrocephalus ORPHA:1895
Linear Verrucous Nevus Syndrome
Ventriculomegaly, Iris coloboma, Reduced bone mineral density, Cataract, Abnormal cornea morpholo... ORPHA:2611
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash ... ORPHA:381
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Iris coloboma, Corneal opacity, Ptosis, Eyelid coloboma, Hydrocephalus, Dandy-W... ORPHA:1647
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Ptosis, Epicanthus ORPHA:1373
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Corneal opacity OMIM:618961
Gorlin Syndrome
Iris coloboma, Epicanthus, Vertebral fusion, Cataract, Telecanthus, Hydrocephalus ORPHA:377
Lissencephaly 5
Cataract, Hydrocephalus OMIM:615191
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hydrocephalus, Abnormal corneal endothelium morphology OMIM:614195
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Ventriculomegaly, Flexion contracture, Cataract, Hydrocephalus ORPHA:272
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Reduced bone mineral density, Cataract, Recurrent fractures ORPHA:2410
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Conjunctivitis, Arthritis OMIM:120100
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Hydrocephalus, Anemia OMIM:619302
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Hep... OMIM:610333
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Hydrocephalus, Obesity OMIM:601794
Crouzon Disease
Iris coloboma, Conjunctivitis, Ptosis, Multiple suture craniosynostosis, Hydrocephalus ORPHA:207
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint laxity, Hydrocephalus OMIM:236660
Olmsted Syndrome 1
Flexion contracture, Opacification of the corneal stroma, Corneal opacity OMIM:614594
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Cataract, Corneal opacity, Pneumonia ORPHA:1867
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Rheumatoid arthritis, Anterior chamber synechiae, Uveitis, Cataract, Failure... ORPHA:85410
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Thrombocytopenia, Anemia, Hydrocephalus ORPHA:858
Hemochromatosis, Type 4
Cataract, Osteoarthritis, Anemia OMIM:606069
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Opacification of the corneal stroma, Hemolytic anemia OMIM:245900
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Decreased corneal reflex ORPHA:73256
Pettigrew Syndrome
Ventriculomegaly, Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Pseudo-Torch Syndrome 1
Ventriculomegaly, Thrombocytopenia, Increased CSF protein, Cataract, Opacification of the corneal... OMIM:251290
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Narrow palpebral fissure, Epicanthus, Ptosis, Downslanted palpebral fissures, Hydrocephalus OMIM:613603
Scheie Syndrome
Corneal opacity, Joint stiffness, Rhinitis, Splenomegaly, Limitation of joint mobility ORPHA:93474
Farber Disease
Osteoporosis, Flexion contracture, Corneal opacity, Abnormal conjunctiva morphology, Thrombocytop... ORPHA:333
Mietens Syndrome
Elbow ankylosis, Corneal opacity, Cataract, Joint stiffness, Microcornea, Sclerocornea ORPHA:2557
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Iris coloboma, Ocular anterior segment dysgenesis, Ptosis, Microcornea,... OMIM:615145
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Epicanthus, Cataract, Spina bifida occulta, Limitation of joint mobility ORPHA:177
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Central Precocious Puberty
Increased body weight, Hydrocephalus, Acne, Obesity ORPHA:759
Alpha-Mannosidosis, Infantile Form
Highly arched eyebrow, Craniosynostosis, Osteolysis, Joint laxity, Cortical thickening of long bo... ORPHA:309282
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Upslanted palpebral fissure, Corneal opacity ORPHA:496790
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Telecanthus, Hydrocephalus ORPHA:380
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Cataract, Myelomeningocele, Hydrocephalus ORPHA:1914
Peroxisome Biogenesis Disorder 5A (Zellweger)
Epiphyseal stippling, Brushfield spots, Palpebral edema, Camptodactyly, Epicanthus, Cataract, Opa... OMIM:614866
3Q29 Microduplication Syndrome
Aniridia, Craniosynostosis, Camptodactyly of toe, Iris coloboma, Cataract, Sclerocornea, Downslan... ORPHA:251038
Hurler Syndrome
Flexion contracture, Corneal opacity, Opacification of the corneal stroma, Joint stiffness, Splen... OMIM:607014
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Ectropion, Corneal opacity, Ocular albinism, Cataract, Anemia, Limitation ... ORPHA:2719
Cole-Carpenter Syndrome 1
Orbital craniosynostosis, Hydrocephalus, Recurrent fractures, Coronal craniosynostosis, Osteopeni... OMIM:112240
Congenital Sialidosis Type 2
Developmental cataract, Corneal opacity, Cataract, Hepatosplenomegaly, Hydrocephalus ORPHA:93400
Distal Monosomy 6P
Abnormal anterior chamber morphology, Ventriculomegaly, Posterior embryotoxon, Epicanthus, Cornea... ORPHA:96125
Krabbe Disease
Increased CSF protein, Failure to thrive, Hydrocephalus, Autoimmune thrombocytopenia OMIM:245200
H Syndrome
Osteolysis, Abnormal eyebrow morphology, Bronchiectasis, Microcytic anemia, Camptodactyly, Recurr... ORPHA:168569
Tenorio Syndrome
Ventriculomegaly, Pneumonia, Stomatitis, Thick eyebrow, Keratoconjunctivitis sicca, Telecanthus, ... OMIM:616260
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Frontofacionasal Dysplasia
Brushfield spots, Blepharophimosis, Upper eyelid coloboma, Iris coloboma, Cataract, Ptosis, Micro... ORPHA:1791
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Anencephaly, Opacification of the corneal stroma, Hydrocephalus, Dandy-Walker m... OMIM:615287
Papillary Tumor Of The Pineal Region
Increased CSF protein, Abnormal eyelid morphology, Hydrocephalus ORPHA:251915
Multiple Sulfatase Deficiency
Ventriculomegaly, Corneal opacity, Increased CSF protein, Splenomegaly, Hydrocephalus OMIM:272200
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Camptodactyly of toe, Ventriculomegaly, Joint contracture of the hand, Downslan... OMIM:175700
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Radioulnar synostosis, Blepharophimosis, Hydrocephalus, Obesity ORPHA:171839
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Mucopolysaccharidosis, Type Vii
Flexion contracture, Corneal opacity, Thick eyebrow, Splenomegaly, Hydrocephalus OMIM:253220
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hypereosinophilia, Keratoc... OMIM:617388
Fried Syndrome
Hydrocephalus ORPHA:85335
Sialidosis Type 1
Cataract, Corneal opacity, Splenomegaly ORPHA:812
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion ORPHA:411777
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Opacification of the corn... OMIM:242900
Cystinosis
Rickets, Corneal opacity, Failure to thrive ORPHA:213
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Pneumonia, Pancytopenia, Decreased proportion of class-switched memo... OMIM:614700
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventriculomegaly, Epicanthus, Cataract, Ptosis, Microcornea, Downslanted palpebral fissures OMIM:616449
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Mucopolysaccharidosis Type 7
Epiphyseal stippling, Corneal opacity, Hepatitis, Joint stiffness, Splenomegaly ORPHA:584
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Palpebral edema, Camptodactyly, Upslanted palpebral fissure, Epicanthus, Hypopl... OMIM:214110
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteoporosis, Metatarsal osteolysis, Camptodactyly of toe, Metacarpal osteolysis, Corneal opacity... OMIM:259600
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Walker-Warburg Syndrome
Ventriculomegaly, Iris coloboma, Corneal opacity, Cataract, Microcornea, Hydrocephalus, Dandy-Wal... ORPHA:899
Methylcobalamin Deficiency Type Cble
Osteoporosis, Ventriculomegaly, Neutropenia, Pancytopenia, Failure to thrive, Increased mean corp... ORPHA:2169
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Cataract, Hydrocephalus ORPHA:588
Mend Syndrome
Cataract, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Gm1 Gangliosidosis
Camptodactyly of finger, Corneal opacity, Weight loss, Coarse metaphyseal trabecularization, Join... ORPHA:354
Jacobsen Syndrome
Holoprosencephaly, Abnormal eyelash morphology, Flexion contracture, Iris coloboma, Epicanthus, N... OMIM:147791
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Axenfeld anomaly, Posterior embryotoxon, Epicanthus, Ocular anterior segment dysgen... OMIM:612582
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Ventriculomegaly, Long eyelashes, Hydrocephalus OMIM:618577
Sanjad-Sakati Syndrome
Astigmatism, Ventriculomegaly, Corneal opacity, Patchy osteosclerosis ORPHA:2323
Microphthalmia, Isolated 3
Ankyloblepharon, Sclerocornea OMIM:611038
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Uveitis, Acute tubulointerstitial nephritis, Glomerulonephritis, Anterior uveitis, No... OMIM:607665
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytopenia, Anemia, ... OMIM:259720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Hurler-Scheie Syndrome
Joint stiffness, Corneal opacity, Splenomegaly OMIM:607015
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Telecanthus, Hydroc... OMIM:601499
Scheie Syndrome
Corneal opacity OMIM:607016
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Corneal dystrophy ORPHA:1806
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Gaucher Disease
Osteomyelitis, Osteolysis, Arthrogryposis multiplex congenita, Ventriculomegaly, Recurrent fractu... ORPHA:355
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Conjunctivitis, Cataract, Keratitis, Sparse and thin eyebrow, Blepharitis, Sparse e... OMIM:612843
Gracile Bone Dysplasia
Aniridia, Asplenia, Decreased skull ossification, Failure to thrive, Hypoplastic spleen, Hydrocep... OMIM:602361
Biemond Syndrome Type 2
Hydrocephalus, Obesity ORPHA:141333
Congenital Disorder Of Deglycosylation
Osteoporosis, Decreased CSF albumin concentration, Decreased CSF 5-hydroxyindolacetic acid, Corne... OMIM:615273
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Triploidy
Holoprosencephaly, Iris coloboma, Meningocele, Cataract, Decreased skull ossification, Hydrocephalus ORPHA:3376
Fish-Eye Disease
Corneal opacity, Splenomegaly ORPHA:79292
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Lens luxation, Camptodactyly, Ectopia lentis, Limitation of joint mobility, Joint contracture of ... OMIM:224400
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Hydrocephalus OMIM:615181
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Ventriculomegaly, Flexion contracture, Chronic otitis media, Corneal o... ORPHA:581
Craniotelencephalic Dysplasia
Arrhinencephaly, Craniosynostosis, Hydrocephalus ORPHA:1528
Mental Retardation, Autosomal Dominant 36
Joint hypermobility, Ventriculomegaly, Abnormality of the orbital region, Downslanted palpebral f... OMIM:616362
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Pancreatitis, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Familial Dysautonomia
Acrocyanosis, Osteolysis, Heterochromia iridis, Corneal erosion, Recurrent fractures, Corneal opa... ORPHA:1764
Emanuel Syndrome
Ventriculomegaly, Recurrent otitis media, Upslanted palpebral fissure, Hooded eyelid, Multiple jo... ORPHA:96170
Popov-Chang syndrome
Lymphopenia, Recurrent otitis media, Ptosis, Failure to thrive, Hydrocephalus OMIM:618428
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Chronic otitis media, Pneumonia, Sinusitis, Asplenia, Abnormal cornea morphology,... OMIM:244400
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Hypoplasia of the iris, Sclerocornea, Eyelid coloboma, Abnormal anterior chamber m... OMIM:613001
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Upper eyelid coloboma, Sclerocornea, Coronal craniosynostosis, Astigm... ORPHA:2095
Thanatophoric Dysplasia
Joint hyperflexibility, Ventriculomegaly, Joint stiffness, Downslanted palpebral fissures, Hydroc... ORPHA:2655
Mosaic Variegated Aneuploidy Syndrome
Osteolysis, Holoprosencephaly, Ventriculomegaly, Epicanthus, Corneal opacity, Cataract, Downslant... ORPHA:1052
Wilson Disease
Osteoporosis, Joint hypermobility, Hemolytic anemia, Kayser-Fleischer ring, Osteomalacia, Atypica... OMIM:277900
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Joint laxity, Keratoglobus, Epicanthus, Abnormal cornea... OMIM:229200
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Recurrent fractures, Corneal opacity OMIM:163200
Incontinentia Pigmenti
Camptodactyly of finger, Skin rash, Osteolysis, Uveitis, Corneal opacity, Cataract, Keratitis, En... ORPHA:464
Encephalocraniocutaneous Lipomatosis
Osteolysis, Abnormal eyelid morphology, Craniofacial hyperostosis, Ventriculomegaly, Bone cyst, I... ORPHA:2396
Tbck-Related Intellectual Disability Syndrome
Osteoporosis, Ventriculomegaly, Upslanted palpebral fissure, Epicanthus, Corneal opacity, Synophr... ORPHA:488632
6P22 Microdeletion Syndrome
Epicanthus, Hydrocephalus ORPHA:251046
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea ORPHA:83461
Stromme Syndrome
Accessory spleen, Stillbirth, Iris coloboma, Cataract, Peters anomaly, Microcornea, Sclerocornea,... OMIM:243605
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract, Communicating hydrocephalus OMIM:600559
Lathosterolosis
Epicanthus, Meningocele, Anisopoikilocytosis, Thrombocytopenia, Cataract, Opacification of the co... ORPHA:46059
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus OMIM:612247
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Neutropenia, Maculopapular exanthema, Pancytopenia, Thrombocytopenia... ORPHA:398124
Aymé-Gripp Syndrome
Developmental cataract, Craniosynostosis, Radioulnar synostosis, Pericarditis, Ventriculomegaly, ... ORPHA:1272
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Ventriculomegaly, Corneal opacity, Failure to thrive, Anemia, Recurrent skin in... ORPHA:79396
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Ventriculomegaly, Dilated fourth ventricle, Megalocornea, Cataract, ... ORPHA:370959
Juvenile Sialidosis Type 2
Cataract, Hepatosplenomegaly, Corneal opacity ORPHA:93399
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Ventriculomegaly, Epicanthus, Pancytopenia, Thrombocytopenia... OMIM:614576
Pycnodysostosis
Osteomyelitis, Osteolysis, Recurrent fractures, Abnormal pelvis bone ossification, Anemia, Spleno... ORPHA:763
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Developmental glaucoma, C... ORPHA:90652
Tangier Disease
Opacification of the corneal stroma, Cicatricial ectropion, Ectropion, Splenomegaly OMIM:205400
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Ptosis, Inflammatory abnormality of the eye, Hydrocephalus ORPHA:93262
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Epicanthus, Hydrocephalus OMIM:600991
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Mucopolysaccharidosis Type 6
Chronic otitis media, Opacification of the corneal stroma, Joint stiffness, Splenomegaly, Failure... ORPHA:583
Fucosidosis
Acrocyanosis, Corneal opacity, Failure to thrive ORPHA:349
Mosaic Trisomy 9
Camptodactyly of finger, Spina bifida, Ventriculomegaly, Upslanted palpebral fissure, Corneal opa... ORPHA:99776
Joubert Syndrome 14
Highly arched eyebrow, Epicanthus, Ptosis, Downslanted palpebral fissures, Hydrocephalus, Dandy-W... OMIM:614424
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse eyebrow, Camptodactyly, Epicanthus, Tubulointerstitial nephritis, Sagittal craniosynostosi... ORPHA:459061
3Mc Syndrome 3
Highly arched eyebrow, Radioulnar synostosis, Blepharophimosis, Corneal opacity, Epicanthus inver... OMIM:248340
Mevalonic Aciduria
Skin rash, Morbilliform rash, Leukocytosis, Nuclear cataract, Failure to thrive in infancy, Throm... OMIM:610377
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Telecanthus, Hydrocephalus ORPHA:83473
Cataract 47
Cataract, Microcornea OMIM:612018
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Coloboma, Ocular, Autosomal Dominant
Ventriculomegaly, Corneal opacity, Peters anomaly OMIM:120200
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cataract, Opacification of the corneal stroma, Corneal neovascularization, Recurrent p... OMIM:158310
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Ventriculomegaly, Camptodactyly, Upslanted palpebral fissure,... OMIM:617822
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Anteri... ORPHA:137596
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Epicanthus, Hydrocephalus, Abnormal cortical bone morphology OMIM:614886
Muenke Syndrome
Tarsal synostosis, Coronal craniosynostosis, Ptosis, Carpal synostosis, Hydrocephalus ORPHA:53271
Distal Tetrasomy 15Q
Craniosynostosis, Camptodactyly, Flexion contracture, Telecanthus, Large for gestational age, Hyd... ORPHA:314588
Mucopolysaccharidosis Type 1
Chronic otitis media, Corneal opacity, Splenomegaly, Joint stiffness, Sinusitis, Hydrocephalus ORPHA:579
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Epicanthus, Hydrocephalus OMIM:617866
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
De Barsy Syndrome
Generalized joint laxity, Epicanthus, Corneal opacity, Cataract, Failure to thrive, Downslanted p... ORPHA:2962
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Epicanthus, Hydrocephalus, Aplasia/Hypoplasia of the eyebrow ORPHA:2701
Whipple Disease
Pericarditis, Uveitis, Cachexia, Anemia, Splenomegaly, Encephalitis, Myositis, Myocarditis, Hydro... ORPHA:3452
Tetraamelia-Multiple Malformations Syndrome
Iris coloboma, Cataract, Abnormally ossified vertebrae, Microcornea, Hydrocephalus ORPHA:3301
Mirage Syndrome
Radial club hand, Lymphopenia, Decreased body weight, Thrombocytopenia, Aspiration pneumonia, Ane... OMIM:617053
Bresek Syndrome
Neonatal death, Iris coloboma, Hydrocephalus ORPHA:85284
Hurler Syndrome
Camptodactyly of finger, Hydrocephalus, Corneal opacity, Thick eyebrow, Rhinitis, Splenomegaly, L... ORPHA:93473
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Hajdu-Cheney Syndrome
Osteoporosis, Osteolysis, Downslanted palpebral fissures, Joint hyperflexibility, Periodontitis, ... ORPHA:955
Chondrodysplasia Punctata 2, X-Linked Dominant
Epiphyseal stippling, Erythroderma, Tarsal stippling, Cataract, Sparse and thin eyebrow, Failure ... OMIM:302960
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Coronal craniosynostosis, Downslanted palpebral fissures, Osteopenia... OMIM:616294
Adams-Oliver Syndrome
Thrombocytopenia, Cataract, Failure to thrive, Leukopenia, Hydrocephalus ORPHA:974
Temple Syndrome
Small for gestational age, Hydrocephalus, Obesity ORPHA:254516
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Splenomegaly, Abnormal hemoglobin, Hydrocephalus ORPHA:163596
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Obesity ORPHA:2183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Ventriculomegaly, Corneal opacity, Congenital contracture, Cataract, Megalocornea, P... OMIM:236670
Trisomy 17P
Flexion contracture, Broad eyebrow, Cataract, Ptosis, Downslanted palpebral fissures, Hydrocephalus ORPHA:261290
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteoporosis, Joint laxity, Hydrocephalus, Epicanthus, Long eyelashes, Synop... OMIM:102500
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Camptodactyly of finger, Esophagitis, Ectropion, Periodontit... ORPHA:2908
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Joint hyperflexibility, Limitation of joint m... ORPHA:93274
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Flexion contracture, Hydrocephalus ORPHA:99947
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Polysplenia, Camptodactyly, Epicanthus, Opacification of the corneal... OMIM:201000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Flexion contracture, Hydrocephalus OMIM:615249
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Synophrys, Short palpebral fissure, Failure to thrive, Thin eyebrow, Telecanthus ORPHA:364577
Shigellosis
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Myo... ORPHA:810
Cousin Syndrome
Blepharophimosis, Camptodactyly, Hydranencephaly, Wrist flexion contracture, Microcornea, Joint c... OMIM:260660
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Joint hyperflexibility, Corneal opacity ORPHA:582
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Cataract, Opacification of the corneal stroma, Distichiasis, Downslanted palpebral fissures, Spar... OMIM:211370
Cogan Syndrome
Thrombocytosis, Scleritis, Leukocytosis, Uveitis, Conjunctivitis, Keratitis, Episcleritis, Anemia... ORPHA:1467
Blau Syndrome
Camptodactyly of finger, Pericarditis, Iritis, Flexion contracture of toe, Uveitis, Synovitis, Ca... OMIM:186580
Dubowitz Syndrome
Craniosynostosis, Blepharophimosis, Abnormality of neutrophils, Joint hyperflexibility, Epicanthu... ORPHA:235
Sturge-Weber Syndrome
Conjunctival telangiectasia, Heterochromia iridis, Iris coloboma, Hyperostosis, Hydrocephalus, Co... ORPHA:3205
Mental Retardation, Autosomal Dominant 35
Downslanted palpebral fissures, Ventriculomegaly, Hydrocephalus OMIM:616355
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Iris coloboma, Downslanted palpebral fissures, Col... OMIM:615219
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Iris coloboma, Hydranencephaly, Microcornea, Short palpebr... ORPHA:2839
Marfanoid-Progeroid-Lipodystrophy Syndrome
Craniosynostosis, Ectopia lentis, Hyperextensibility of the finger joints, Keratoconjunctivitis s... OMIM:616914
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Iris coloboma, Hydrocephalus, Sclerocornea ORPHA:77298
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Scleritis, Abnormal eyelid morphology, Corneal erosion, Abnormal eyelash... ORPHA:2273
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Hydrocephalus OMIM:300886
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Osteomyelit... OMIM:256800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Iris coloboma, Sclerocornea ORPHA:139471
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Flexion contracture, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Irregular tarsal ossification, Anterior cortical cataract, Corne... OMIM:221800
Carpenter Syndrome
Polysplenia, Craniosynostosis, Abnormal cornea morphology, Obesity ORPHA:65759
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Hydrocephalus ORPHA:398189
Aase-Smith Syndrome I
Ptosis, Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Moebius Syndrome
Arthrogryposis multiplex congenita, Epicanthus, Corneal opacity, Ptosis, Blepharitis ORPHA:570
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Palpebral edema, Recurrent otitis media, Epicanthus, Megalocornea, Opacifica... OMIM:252500
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Osteolysis, Bone cyst, Flexion contracture, Synophrys, Cataract, Anemia, Downslanted palpebral fi... ORPHA:3042
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Upslanted palpebral fissure, Epicanthus, Cataract, Small for gestational age, L... OMIM:257300
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Ventriculomegaly, Hydrocephalus, Splenomegaly OMIM:615630
Vacterl Association With Hydrocephalus
Radial club hand, Stillbirth, Hydrocephalus, Aqueductal stenosis OMIM:276950
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Desmosterolosis
Ventriculomegaly, Epicanthus, Osteopetrosis, Increased bone mineral density, Failure to thrive, S... ORPHA:35107
Chime Syndrome
Osteolysis, Upslanted palpebral fissure, Epicanthus, Corneal opacity, Ptosis, Acute leukemia ORPHA:3474
Lathosterolosis
Osteoporosis, Epicanthus, Increased mean platelet volume, Anisopoikilocytosis, Cataract, Opacific... OMIM:607330
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Ventriculomegaly, Corneal opacity, Pancytopenia, Thrombocytopenia, Ptosis... ORPHA:2072
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Communicating hydrocephalus, Increased bone mineral density ORPHA:1237
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma, Short palpebral fissure, Blepharophimosis OMIM:113470
Gomez-Lopez-Hernandez Syndrome
Downslanted palpebral fissures, Craniosynostosis, Opacification of the corneal stroma OMIM:601853
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Neonatal epiphyseal stippling, Epicanthus, Small for gestational age, Calva... OMIM:101800
Hepatoerythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Scleritis, Ectropion, Seborrhoeic blepharitis, Recurr... ORPHA:95159
1Q44 Microdeletion Syndrome
Upslanted palpebral fissure, Ventriculomegaly, Epicanthus, Synophrys, Telecanthus, Hydrocephalus ORPHA:238769
Fanconi Anemia
Spina bifida, Almond-shaped palpebral fissure, Abnormal eyelid morphology, Ventriculomegaly, Upsl... ORPHA:84
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Epicanthus, Anemia, Communicating hydrocephalus ORPHA:2268
Williams-Beuren Region Duplication Syndrome
Horizontal eyebrow, Ventriculomegaly, Chronic otitis media, Long eyelashes, Hydrocephalus OMIM:609757
Cardiofaciocutaneous Syndrome 1
Atopic dermatitis, Absent eyelashes, Palpebral thickening, Epicanthus, Absent eyebrow, Ptosis, Fa... OMIM:115150
Coccidioidomycosis
Peritonitis, Skin rash, Pericarditis, Pneumonia, Osteomyelitis, Hydrocephalus, Eosinophilia, Oste... ORPHA:228123
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Erythroderma, Ventriculomegaly, Absent eyebrow, Opacification of the corneal st... OMIM:308205
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Desmosterolosis
Arthrogryposis multiplex congenita, Ventriculomegaly, Epicanthus, Generalized osteosclerosis, Fai... OMIM:602398
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Lentiglobus, Joint hyperflexibility, Ventriculomegaly, Periodontitis, Recurrent frac... ORPHA:534
Lymphedema-Distichiasis Syndrome
Ectropion, Corneal erosion, Cataract, Conjunctivitis, Tubulointerstitial nephritis, Ptosis, Disti... ORPHA:33001
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Osteogenesis Imperfecta
Osteoporosis, Joint hypermobility, Joint hyperflexibility, Ventriculomegaly, Flexion contracture,... ORPHA:666
Ifap Syndrome 2
Posterior blepharitis, Angular cheilitis, Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Epiphyseal stippling, Upslanted palpebral fissure, Epicanthus, Subependymal cys... OMIM:214100
Neurofibromatosis Type 1
Lisch nodules, Heterochromia iridis, Abnormal eyelid morphology, Chronic myelogenous leukemia, Re... ORPHA:636
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Long palpebral fissure, Ptosis, Hydrocephalus, Knee flexion contracture OMIM:603387
Peho Syndrome
Arthrogryposis multiplex congenita, Hydrocephalus, Palpebral edema, Ventriculomegaly, Flexion con... ORPHA:2836
Gaucher Disease, Type Iiic
Pancytopenia, Opacification of the corneal stroma, Hydrocephalus, Splenomegaly OMIM:231005
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea, Failure to thrive, Cyanosis, Hydrocephalus ORPHA:137675
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Ptosis, Iris coloboma, Hydrocephalus ORPHA:2318
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Scleritis, Ectropion, Reticulocytosis, Seborrhoeic bl... ORPHA:79277
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
3C Syndrome
Ventriculomegaly, Iris coloboma, Downslanted palpebral fissures, Hydrocephalus, Dandy-Walker malf... ORPHA:7
Monosomy 9Q22.3
Joint hyperflexibility, Ventriculomegaly, Epicanthus, Cataract, Downslanted palpebral fissures, L... ORPHA:77301
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropen... OMIM:258360
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Joint stiffness OMIM:252605
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Joint stiffness, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Ventriculomegaly, Hydrocephalus OMIM:616538
Hec Syndrome
Developmental cataract, Abnormal pupil morphology, Communicating hydrocephalus ORPHA:2119
Van Den Ende-Gupta Syndrome
Craniosynostosis, Abnormal eyebrow morphology, Blepharophimosis, Camptodactyly of toe, Knee flexi... OMIM:600920
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Ptosis, Iris coloboma, Hydrocephalus ORPHA:220497
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Hutchinson-Gilford Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Limited wrist movement, Limitation of mov... ORPHA:740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Ventriculomegaly, Congenital contracture, Cataract, P... OMIM:613150
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Flexion contracture, Corneal scarring, Cataract, Conjunctivitis, Anemia OMIM:226600
Joubert Syndrome
Highly arched eyebrow, Ptosis, Iris coloboma, Hydrocephalus ORPHA:475
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Ventriculomegaly, Hydrocephalus OMIM:618476
Fabry Disease
Conjunctival telangiectasia, Corneal opacity, Reduced bone mineral density, Cataract, Arthritis, ... ORPHA:324
Familial Lambdoid Synostosis
Blepharophimosis, Hydrocephalus, Stomatocytosis, Telecanthus ORPHA:3267
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Epicanthus, Long eyelashes, Thrombocytopenia, Conjunctivitis, Joint stiffnes... ORPHA:505248
Dyssegmental Dysplasia, Silverman-Handmaker Type
Developmental cataract, Hydrocephalus, Flexion contracture, Pterygium, Limitation of joint mobility ORPHA:1865
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteoporosis, Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Developmental glaucom... OMIM:245600
Plasminogen Deficiency, Type I
Hydrocephalus, Periodontitis, Conjunctivitis, Nephritis, Dandy-Walker malformation OMIM:217090
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Epicanthus, Anencephaly, Meningocele, Hydrocephalus ORPHA:1908
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Cataract, Conjunctivitis, Keratoconjunctivitis sicca, Keratitis, Corneal neovasculariz... OMIM:278730
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Spina bifida occulta OMIM:169550
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Joint hypermobility, Epicanthus, Telecanthus, Osteopenia, Hydrocephalus OMIM:618590
Xeroderma Pigmentosum
Conjunctival telangiectasia, Ectropion, Craniofacial hyperostosis, Ankyloblepharon, Cataract, Pte... ORPHA:910
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint hyperflexibility, Ventriculomegaly, Hydrocephalus, Failure to thrive ORPHA:60040
Autoinflammation, Antibody Deficiency, And Immune Dysregulation