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
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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 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood vessel 0.0%
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyer's patch 0.57% (1 of 175)
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
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

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 OMIM:239900
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity OMIM:277950
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Ventriculomegaly ORPHA:1980
Peroxisome Biogenesis Disorder 10A (Zellweger)
Downslanted palpebral fissures, Epicanthus, Cataract, Epiphyseal stippling OMIM:614882
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Corneal opacity, Microcornea ORPHA:2432
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Kleeblattschaedel
Hydrocephalus, Recurrent corneal erosions, Elbow ankylosis, Craniosynostosis OMIM:148800
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Gómez-López-Hernández Syndrome
Telecanthus, Hydrocephalus, Corneal opacity ORPHA:1532
Mucolipidosis Type Iii
Joint stiffness, Corneal opacity, Reduced bone mineral density, Acne, Craniofacial hyperostosis ORPHA:577
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Galactosialidosis
Corneal opacity ORPHA:351
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Orbital craniosynostosis, Dandy-Walker malformation ORPHA:1538
Pineocytoma
Hydrocephalus, Increased CSF protein, Abnormal eyelid morphology ORPHA:251912
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus, Cataract, Arthrogryposis multiplex congenita ORPHA:250994
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
Trichomegaly
Long eyelashes, Cataract OMIM:190330
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Reduced bone mineral density ORPHA:2370
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Ptosis ORPHA:1473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Flexion contracture, Cataract, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Cataract, Arthrogryposis multiplex congenita, Small for gestational age OMIM:212540
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Abnormal eyelash morphology, Periodontitis ORPHA:1008
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Morquio Syndrome C
Corneal opacity OMIM:252300
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Infantile Sialic Acid Storage Disease
Failure to thrive, Hydrocephalus, Vacuolated lymphocytes, Splenomegaly, Osteopenia, Epicanthus, P... OMIM:269920
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal erosion, Corneal d... OMIM:608470
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Camptodactyly of finger, Megalocornea, Synostosis of carpal bones, Abnormality o... ORPHA:2741
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Limitation of joint mobility ORPHA:99966
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Cataract, Increased CSF protein, I... OMIM:136300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Ectropion, Thick eyebrow, Long palpebral fissure, Downslanted palpebr... OMIM:602562
Erythrokeratodermia Variabilis
Corneal opacity, Weight loss, Cataract, Skin rash ORPHA:317
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Metatarsal osteolysis, Osteopenia, Carpal osteolysis, Osteolysis involving tarsa... OMIM:166300
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Alpha-Mannosidosis
Corneal opacity, Splenomegaly, Chronic otitis media, Synostosis of joints, Arthritis, Cataract, C... ORPHA:61
Sialidosis Type 2
Corneal opacity, Osteoporosis, Flexion contracture, Splenomegaly ORPHA:87876
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Metatropic Dysplasia
Joint stiffness, Hydrocephalus, Coarse metaphyseal trabecularization, Camptodactyly of finger, Ca... ORPHA:2635
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Developmental cataract, Ventriculomegaly, Ocular anterior segment dysgenesis, Occi... ORPHA:324416
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Abnormal T cell morphology, Generalized bone demineralizatio... OMIM:215250
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Craniosynostosis, Communicating hydrocephalus, Telecanthus, Developmental glauco... ORPHA:1064
Leukodystrophy, Hypomyelinating, 24
Cataract, Ventriculomegaly, Flexion contracture, B lymphocytopenia OMIM:619851
Congenital Hydrocephalus
Hydrocephalus, Downslanted palpebral fissures, Iris coloboma, Ventriculomegaly, Colpocephaly ORPHA:2185
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Upslanted palpebral fissure, Myopic astigmatism, Microcornea, Astigmatism, Downs... OMIM:152950
Congenital Rubella Syndrome
Corneal opacity, Skin rash, Splenomegaly, Thrombocytopenia, Cataract, Anemia, Aplasia/Hypoplasia ... ORPHA:290
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus, Skin rash ORPHA:26
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Hydrocephalus, Cataract, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Oculomaxillofacial Dysostosis
Corneal opacity, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Camptodactyly of... ORPHA:1794
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract, Flexion contracture OMIM:618815
Biemond Syndrome Ii
Hydrocephalus, Iris coloboma OMIM:210350
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Intellectual Disability-Cataracts-Kyphosis Syndrome
Failure to thrive, Iris coloboma, Cataract, Elbow flexion contracture, Knee flexion contracture ORPHA:171860
Hurler-Scheie Syndrome
Corneal opacity, Rhinitis, Limitation of joint mobility, Splenomegaly ORPHA:93476
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures ORPHA:2788
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age, Broad eyebrow, Narrow palpebral fissure, Synophrys OMIM:618302
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract, Neonatal death OMIM:273680
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Alpha-Mannosidosis, Adult Form
Corneal opacity, Osteopenia, Hepatosplenomegaly, Cataract, Pneumonia, Pancytopenia ORPHA:309288
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Al-Gazali Syndrome
Recurrent fractures, Corneal opacity, Failure to thrive, Proximal radio-ulnar synostosis, Osteope... OMIM:609465
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Joint laxity, Ventriculomegaly, Leukemia OMIM:602501
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Mental Retardation, Buenos Aires Type
Failure to thrive, Hydrocephalus, Blue irides, Curly eyelashes, Downslanted palpebral fissures, L... OMIM:249630
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Nasu-Hakola Disease
Hydrocephalus, Bone cyst, Reduced bone mineral density, Ventriculomegaly, Acute leukemia, Limitat... ORPHA:2770
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Atopic Keratoconjunctivitis
Keratitis, Blepharitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes,... ORPHA:163934
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Upslanted palpebral ... OMIM:609637
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Long eyelashes, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Temple Syndrome
Hydrocephalus, Joint hypermobility, Flexion contracture, Small for gestational age, Truncal obesi... OMIM:616222
Multiple Sulfatase Deficiency
Joint stiffness, Hydrocephalus, Corneal opacity, Thick eyebrow, Splenomegaly, Cataract ORPHA:585
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Posterior embryotoxon, Narrow palpebral fissure, Dandy-W... OMIM:220220
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Achondroplasia
Limited hip extension, Hydrocephalus, Generalized joint laxity, Limited elbow extension, Recurren... OMIM:100800
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract, Upslanted palpebral fissure OMIM:617183
Dermatitis, Atopic
Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Keratoconus, Cataract, C... OMIM:603165
Lowry-Maclean Syndrome
Hydrocephalus, Corneal opacity, Craniosynostosis, Osteopenia, Megalocornea, Osteoporosis, Downsla... ORPHA:2409
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Abnormal corneal endothelium morphology, Ocular anterior segment dysgenesis, Anter... OMIM:614195
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Flexion contracture OMIM:300884
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Craniosynostosis, Small for gestational age, Leukopenia, Astigmatism, Downslante... OMIM:301056
Alexander Disease
Hydrocephalus, Microcoria, Increased CSF protein OMIM:203450
Microcephalic Primordial Dwarfism, Toriello Type
Downslanted palpebral fissures, Cataract, Ventriculomegaly, Neutropenia ORPHA:2643
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Downslanted palpebral fissures, Epicanthus, Hydrocephalus, Craniosynostosis ORPHA:1516
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris, Ventriculomegaly ORPHA:137902
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619302
Wilson Disease
Failure to thrive, Acute hepatitis, Splenomegaly, Pathologic fracture, Arthritis, Hepatitis, Weig... ORPHA:905
Bartsocas-Papas Syndrome
Corneal opacity, Ankyloblepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, ... ORPHA:1234
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Corneal opacity, Developmental cataract OMIM:616603
Proteus-Like Syndrome
Hydrocephalus, Abnormal pupil morphology, Splenomegaly, Limbal dermoid, Communicating hydrocephal... ORPHA:2969
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hydr... ORPHA:53
Bartsocas-Papas Syndrome 2
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Axillary pterygium, Antecubital pterygium OMIM:619339
Brittle Cornea Syndrome 2
Flat cornea, Recurrent fractures, Megalocornea, Keratoconus, Keratoglobus, Joint hypermobility, S... OMIM:614170
Griscelli Syndrome
Abnormal eyebrow morphology, Hydrocephalus, Splenomegaly, Leukopenia, Abnormality of neutrophils,... ORPHA:381
Ichthyosis, Congenital, Autosomal Recessive 11
Blepharitis, Corneal opacity, Sparse eyebrow, Sparse eyelashes, Curly eyelashes OMIM:602400
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Flexion contracture, Camptodactyly of finger, Cataract, Ventriculomegaly ORPHA:272
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Sparse eyebrow, Lipomas of eyelids, Hamartoma of the orbital region, Telecanthus... ORPHA:2399
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Joint laxity, Elbow flexion contractur... OMIM:613776
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Cataract OMIM:615191
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hydrocephalus, Osteomyelitis, Increased bone mineral density, Craniosynostosis... OMIM:259700
8Q21.11 Microdeletion Syndrome
Corneal opacity, Camptodactyly of finger, Eczema, Downslanted palpebral fissures, Iris hypopigmen... ORPHA:284160
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Acrocyanosis, Cataract, Pneumonia ORPHA:1867
Edinburgh Malformation Syndrome
Joint stiffness, Hydrocephalus, Failure to thrive, Synophrys, Brushfield spots ORPHA:1895
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Opacification of the corneal stroma OMIM:271630
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Hydrocephalus, Abnormally prominent line of Schwalbe, Telecanthus, Ri... OMIM:109120
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Ocular albinism, Hypochromic anemia, Reduced bone mineral density, Abnormality of ... ORPHA:2720
Zellweger Syndrome
Failure to thrive, Corneal opacity, Upslanted palpebral fissure, Posterior embryotoxon, Epicanthu... ORPHA:912
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Cataract, Osteoporosis, Reduced bone mineral density ORPHA:2410
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Reduced bone mineral density, Iris coloboma, Cataract, Ventriculomega... ORPHA:2611
Gorlin Syndrome
Hydrocephalus, Telecanthus, Epicanthus, Iris coloboma, Cataract, Vertebral fusion ORPHA:377
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hydrocephalus, Cataract OMIM:601794
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Corneal opacity OMIM:618961
Oculocerebrocutaneous Syndrome
Corneal opacity, Hydrocephalus, Iris coloboma, Ventriculomegaly, Eyelid coloboma, Dandy-Walker ma... ORPHA:1647
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Arthritis, Uveitis, Conjunctivitis OMIM:120100
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Splenomegaly, Hepatosplenomegaly, Ventriculomegaly, Pancytopenia, CSF lymphocytic ... OMIM:610333
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Failure to thrive, Hydrocephalus, Thick eyebrow, Upslanted palpebral fissure, Distal arthrogrypos... OMIM:619833
Crouzon Syndrome
Hydrocephalus, Multiple suture craniosynostosis, Iris coloboma, Conjunctivitis, Ptosis ORPHA:207
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Anemia, Thrombocytopenia, Failure to thrive in infancy ORPHA:858
Oligoarticular Juvenile Idiopathic Arthritis
Failure to thrive, Oligoarthritis, Band keratopathy, Rheumatoid arthritis, Anterior chamber synec... ORPHA:85410
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus, Joint laxity OMIM:236660
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma, Flexion contracture OMIM:614594
Pettigrew Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly, Flexion contracture OMIM:304340
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Opacification of the corneal stroma, Normochromic anemia OMIM:245900
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Corneal opacity, Lymphopenia, Pancreatitis, Small for gestational age, Abnorma... ORPHA:1830
Hurler Syndrome
Joint stiffness, Hydrocephalus, Corneal opacity, Flexion contracture, Calvarial hyperostosis, Spl... OMIM:607014
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Cataract, Epiphyseal stippling ORPHA:1914
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Short palpebral fissure, Axenfeld anomaly, Posterior embryotoxon, Opacification of... OMIM:612582
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Farber Disease
Failure to thrive, Corneal opacity, Flexion contracture, Hepatosplenomegaly, Opacification of the... ORPHA:333
Scheie Syndrome
Joint stiffness, Corneal opacity, Splenomegaly, Rhinitis, Limitation of joint mobility ORPHA:93474
Mietens Syndrome
Joint stiffness, Corneal opacity, Elbow ankylosis, Microcornea, Cataract, Sclerocornea ORPHA:2557
Frontofacionasal Dysplasia
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... ORPHA:1791
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
Central Precocious Puberty
Increased body weight, Hydrocephalus, Obesity, Acne ORPHA:759
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus OMIM:300864
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Iris coloboma, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Scleroc... OMIM:615145
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract, Upslanted palpebral fissure ORPHA:496790
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Stillbirth, Increased bone mineral density, Decreased osteoclast count, Splenomega... OMIM:259720
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Narrow palpebral fissure, Ptosis OMIM:613603
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Greig Cephalopolysyndactyly Syndrome
Telecanthus, Hydrocephalus, Craniosynostosis ORPHA:380
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Flexion contracture, Astigmatism OMIM:270200
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Alpha-Mannosidosis, Infantile Form
Joint stiffness, Corneal opacity, Cortical thickening of long bone diaphyses, Craniosynostosis, O... ORPHA:309282
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Downslanted palpebral fissures, Cataract, Obesity, Aniridia, Ptosis OMIM:612469
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Opacification of the corneal stroma, Ventriculomegaly, Occipital ence... OMIM:615287
Mucopolysaccharidosis, Type Vii
Joint stiffness, Hydrocephalus, Corneal opacity, Thick eyebrow, Flexion contracture, Splenomegaly... OMIM:253220
Cole-Carpenter Syndrome 1
Recurrent fractures, Hydrocephalus, Coronal craniosynostosis, Osteopenia, Shallow orbits, Orbital... OMIM:112240
Cystinosis
Failure to thrive, Corneal opacity, Rickets ORPHA:213
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Splenomegaly, Hepatosplenomegaly, Palpebral edema, Opacification of the cornea... OMIM:614866
Congenital Sialidosis Type 2
Hydrocephalus, Corneal opacity, Hepatosplenomegaly, Cataract, Developmental cataract ORPHA:93400
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, D... ORPHA:96125
3Q29 Microduplication Syndrome
Craniosynostosis, Camptodactyly of toe, Downslanted palpebral fissures, Iris coloboma, Cataract, ... ORPHA:251038
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Multiple Sulfatase Deficiency
Corneal opacity, Hydrocephalus, Splenomegaly, Ventriculomegaly, Increased CSF protein OMIM:272200
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Ectropion, Ocular albinism, Iris hypopigmentation, Cataract, Anemia, Limitation ... ORPHA:2719
Tenorio Syndrome
Hydrocephalus, Thick eyebrow, Osteopenia, Telecanthus, Stomatitis, Ventriculomegaly, Pneumonia, K... OMIM:616260
Gracile Bone Dysplasia
Failure to thrive, Hydrocephalus, Hypoplastic spleen, Aniridia, Decreased skull ossification, Asp... OMIM:602361
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Hydrocephalus, Long eyelashes, Ventriculomegaly OMIM:618577
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Hydrocephalus, Joint contracture of the hand, Lens luxatio... OMIM:224400
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein, Abnormal eyelid morphology ORPHA:251915
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Craniosynostosis, Radioulnar synostosis, Obesity, Blepharophimosis ORPHA:171839
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Corneal opacity, Metatarsal osteolysis, Peripheral opacification of the cornea, ... OMIM:259600
Krabbe Disease
Failure to thrive, Hydrocephalus, Autoimmune thrombocytopenia, Increased CSF protein OMIM:245200
Fried Syndrome
Hydrocephalus ORPHA:85335
Sialidosis Type 1
Corneal opacity, Cataract, Splenomegaly ORPHA:812
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
H Syndrome
Histiocytosis, Recurrent fractures, Hydrocephalus, Abnormal eyebrow morphology, Upper eyelid edem... ORPHA:168569
Walker-Warburg Syndrome
Hydrocephalus, Corneal opacity, Microcornea, Iris coloboma, Cataract, Ventriculomegaly, Dandy-Wal... ORPHA:899
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Decreased proportion of class-switched memory B cells, C... OMIM:614878
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Craniosynostosis, Camptodactyly of toe, Downslanted... OMIM:175700
Mucopolysaccharidosis Type 7
Joint stiffness, Corneal opacity, Splenomegaly, Hepatitis, Epiphyseal stippling ORPHA:584
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Splenomegaly, Corneal neovascularization, Uveitis, Hypereosinophilia, Punctate... OMIM:617388
Gm1 Gangliosidosis
Joint stiffness, Corneal opacity, Failure to thrive, Splenomegaly, Aspiration pneumonia, Hepatosp... ORPHA:354
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Colitis, Splenomegaly, Inflammation of the l... OMIM:614700
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Hydrocephalus, Neutropenia, Osteoporosis, M... ORPHA:2169
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Abnormal cornea morphology ORPHA:411777
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Scheie Syndrome
Corneal opacity OMIM:607016
Muscle-Eye-Brain Disease
Hydrocephalus, Cataract, Meningocele, Holoprosencephaly ORPHA:588
Mend Syndrome
Hydrocephalus, Cataract, Dandy-Walker malformation OMIM:300960
Fish-Eye Disease
Corneal opacity, Splenomegaly ORPHA:79292
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Joint contracture of the hand, Upslanted palpebral fissure, Hypoplasia of the ... OMIM:214110
Microphthalmia, Isolated 3
Ankyloblepharon, Sclerocornea OMIM:611038
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Uveitis, Glomerulone... OMIM:607665
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea ORPHA:1806
Jacobsen Syndrome
Failure to thrive, Hydrocephalus, Flexion contracture, Holoprosencephaly, Microcornea, Telecanthu... OMIM:147791
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:169154
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Tele... OMIM:601499
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Corneal opacity, Ventriculomegaly, Astigmatism ORPHA:2323
Proboscis Lateralis
Abnormal eyebrow morphology, Corneal opacity, Unilateral narrow palpebral fissure, Abnormal morph... ORPHA:141099
Joubert Syndrome 14
Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Encephalocele, Highly arched eyebrow, ... OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Mucopolysaccharidosis Type 3
Joint stiffness, Hydrocephalus, Corneal opacity, Flexion contracture, Reduced bone mineral densit... ORPHA:581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Cataract OMIM:615181
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Hydrocephalus, Increased bone mineral densit... ORPHA:355
Triploidy
Hydrocephalus, Holoprosencephaly, Iris coloboma, Cataract, Meningocele, Decreased skull ossification ORPHA:3376
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Blepharitis, Folliculitis, Sparse eyebrow, Sparse eyelashes, Cataract, Conjunctivitis OMIM:612843
Incontinentia Pigmenti
Keratitis, Corneal opacity, Skin rash, Eosinophilia, Camptodactyly of finger, Spina bifida occult... ORPHA:464
Stromme Syndrome
Hydrocephalus, Accessory spleen, Microcornea, Peters anomaly, Iris coloboma, Cataract, Stillbirth... OMIM:243605
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Recurrent bacterial skin infections, Colitis, Chronic oral candidiasis, Lympho... ORPHA:911
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly, Craniosynostosis ORPHA:1528
Pseudo-Torch Syndrome 1
Failure to thrive, Splenomegaly, Opacification of the corneal stroma, Cataract, Ventriculomegaly,... OMIM:251290
Schimke Immunoosseous Dysplasia
Neutropenia, Lymphopenia, Small for gestational age, Osteopenia, Opacification of the corneal str... OMIM:242900
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Megalocornea, Dilated fourth ventricle, Cataract, Ventriculomegaly, Abnormality ir... ORPHA:370959
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Upper eyelid coloboma, Astigmatism, Sclerocornea, Abnormal eyelid morph... ORPHA:2095
Biemond Syndrome Type 2
Obesity, Hydrocephalus ORPHA:141333
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation, Abnormal anterior chamber morphology, Limbal dermoid, H... OMIM:613001
Popov-Chang syndrome
Failure to thrive, Hydrocephalus, Lymphopenia, Recurrent otitis media, Ptosis OMIM:618428
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hydrocephalus, Splenomegaly, Inflammation of the large intestine, Epicanthus, ... OMIM:614576
6P22 Microdeletion Syndrome
Epicanthus, Hydrocephalus ORPHA:251046
Emanuel Syndrome
Multiple joint contractures, Hydrocephalus, Failure to thrive, Upslanted palpebral fissure, Hoode... ORPHA:96170
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Bone cyst, Abnormal nasolacrimal system morphology, Iris coloboma, Osteolysis, A... ORPHA:2396
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Familial Dysautonomia
Recurrent fractures, Corneal opacity, Abnormal pupil morphology, Osteolysis, Corneal erosion, Het... ORPHA:1764
Schimmelpenning-Feuerstein-Mims Syndrome
Recurrent fractures, Osteopenia, Hypophosphatemic rickets, Corneal opacity OMIM:163200
Hurler-Scheie Syndrome
Joint stiffness, Corneal opacity, Splenomegaly, Contracture of the distal interphalangeal joint o... OMIM:607015
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract, Communicating hydrocephalus OMIM:600559
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Telecanthus, Hydrocephalus ORPHA:83473
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Thick eyebrow, Upslanted palpebral fissure, Eczema, Osteoporosis, Epicanthus, Ve... ORPHA:488632
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Epicanthus, Keratoconus, Joint laxity, Keratoglobus, Decreased cornea... OMIM:229200
Mosaic Variegated Aneuploidy Syndrome
Corneal opacity, Holoprosencephaly, Downslanted palpebral fissures, Epicanthus, Osteolysis, Catar... ORPHA:1052
Neonatal Lupus Erythematosus
Hydrocephalus, Neutropenia, Skin rash, Splenomegaly, Maculopapular exanthema, Aplastic anemia, He... ORPHA:398124
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Hydrocephalus, Thick eyebrow, Flexion contracture, Osteopenia, C... OMIM:616007
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Tangier Disease
Ectropion, Cicatricial ectropion, Opacification of the corneal stroma, Splenomegaly OMIM:205400
Thanatophoric Dysplasia
Joint stiffness, Hydrocephalus, Downslanted palpebral fissures, Ventriculomegaly, Joint hyperflex... ORPHA:2655
Distal Tetrasomy 15Q
Hydrocephalus, Flexion contracture, Craniosynostosis, Camptodactyly, Large for gestational age, T... ORPHA:314588
Juvenile Sialidosis Type 2
Hepatosplenomegaly, Cataract, Corneal opacity ORPHA:93399
3Mc Syndrome 3
Corneal opacity, Radioulnar synostosis, Epicanthus inversus, Blepharophimosis, Highly arched eyeb... OMIM:248340
Fucosidosis
Failure to thrive, Corneal opacity, Acrocyanosis ORPHA:349
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stro... OMIM:158310
Lathosterolosis
Failure to thrive, Anisopoikilocytosis, Microcornea, Opacification of the corneal stroma, Downsla... ORPHA:46059
Hurler Syndrome
Hydrocephalus, Corneal opacity, Thick eyebrow, Splenomegaly, Camptodactyly of finger, Rhinitis, L... ORPHA:93473
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Epicanthus, Hydrocephalus OMIM:600991
Otopalatodigital Syndrome Type 2
Myelomeningocele, Carpal synostosis, Hydrocephalus, Failure to thrive, Increased bone mineral den... ORPHA:90652
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Inflammatory abnormality of the eye, Ptosis ORPHA:93262
Mucopolysaccharidosis Type 6
Joint stiffness, Sinusitis, Failure to thrive, Splenomegaly, Opacification of the corneal stroma,... ORPHA:583
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Corneal opacity, Recurrent skin infections, Craniosynostosis, Ventriculomegaly... ORPHA:79396
Aymé-Gripp Syndrome
Hydrocephalus, Craniosynostosis, Upslanted palpebral fissure, Shallow orbits, Megalocornea, Radio... ORPHA:1272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract, Ventriculome... OMIM:236670
Ciliary Dyskinesia, Primary, 1
Abnormal cornea morphology, Chronic otitis media, Communicating hydrocephalus, Chronic rhinitis, ... OMIM:244400
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Sparse eyebrow, Camptodactyly, Downslanted palpebral fissures, Epicanthus, Tubuloi... ORPHA:459061
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Upslanted palpebral fissure, Camptodactyly, Cataract, Ventriculomegaly, Arthrogryp... OMIM:617822
Mosaic Trisomy 9
Corneal opacity, Upslanted palpebral fissure, Camptodactyly of finger, Ventriculomegaly, Asplenia... ORPHA:99776
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Upslanted palpebral fissure OMIM:300558
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Chronic otitis media, Horizontal eyebrow, Long eyelashes, Ventriculomegaly OMIM:609757
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
De Barsy Syndrome
Failure to thrive, Corneal opacity, Generalized joint laxity, Osteopenia, Downslanted palpebral f... ORPHA:2962
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Adams-Oliver Syndrome
Failure to thrive, Hydrocephalus, Leukopenia, Cataract, Encephalocele, Thrombocytopenia ORPHA:974
Mucopolysaccharidosis Type 1
Joint stiffness, Hydrocephalus, Sinusitis, Corneal opacity, Splenomegaly, Chronic otitis media ORPHA:579
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Spina bifida occulta, Iris coloboma, Cataract, I... OMIM:612109
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Irregular tarsal ossification, Anterior cortical cataract, Corne... OMIM:221800
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Whipple Disease
Hydrocephalus, Splenomegaly, Cachexia, Myositis, Myocarditis, Arthritis, Pericarditis, Uveitis, I... ORPHA:3452
Mirage Syndrome
Hydrocephalus, Decreased body weight, Lymphopenia, Aspiration pneumonia, Radial club hand, Leukop... OMIM:617053
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Bresek Syndrome
Hydrocephalus, Neonatal death, Iris coloboma ORPHA:85284
Hajdu-Cheney Syndrome
Recurrent fractures, Hydrocephalus, Periodontitis, Failure to thrive, Thick eyebrow, Splenomegaly... ORPHA:955
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus OMIM:616521
Muenke Syndrome
Carpal synostosis, Hydrocephalus, Coronal craniosynostosis, Tarsal synostosis, Ptosis ORPHA:53271
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Aplasia/Hypoplasia of the eyebrow, Epicanthus, Hydrocephalus ORPHA:2701
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Carpenter Syndrome 1
Joint contracture of the hand, Coronal craniosynostosis, Opacification of the corneal stroma, Mic... OMIM:201000
Cutis Laxa, Autosomal Recessive, Type Iib
Failure to thrive, Hydrocephalus, Osteopenia, Downslanted palpebral fissures, Joint hypermobility OMIM:612940
Thanatophoric Dysplasia Type 2
Hydrocephalus, Limitation of joint mobility, Holoprosencephaly, Ventriculomegaly, Encephalocele, ... ORPHA:93274
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Abnormally ossified vertebrae, Microcornea, Iris coloboma, Cataract ORPHA:3301
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia ORPHA:163596
B4Galt1-Cdg
Hydrocephalus, Inflammatory abnormality of the skin, Small for gestational age, Splenomegaly, Dan... ORPHA:79332
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Hydrocephalus ORPHA:2183
Temple Syndrome
Obesity, Hydrocephalus, Small for gestational age ORPHA:254516
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Craniosynostosis, Hyperextensibility of the finger joints, Downslanted palpebral f... OMIM:616914
Cole-Carpenter Syndrome 2
Hydrocephalus, Coronal craniosynostosis, Osteopenia, Downslanted palpebral fissures, Lambdoidal c... OMIM:616294
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Camptodactyly, Downslanted palpebral fissures, Epicanthus, Cataract, Scl... OMIM:614230
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Flexion contracture ORPHA:99947
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Corneal opacity, Short palpebral fissure, Thin eyebrow, Telecanthus, Synophrys ORPHA:364577
Trisomy 17P
Hydrocephalus, Flexion contracture, Broad eyebrow, Downslanted palpebral fissures, Cataract, Ptosis ORPHA:261290
Aniridia 1
Ptosis, Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Bilate... OMIM:106210
Sturge-Weber Syndrome
Hydrocephalus, Conjunctival telangiectasia, Iris coloboma, Hyperostosis, Corneal dystrophy, Heter... ORPHA:3205
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Ectopia pupillae, Microcornea, Epicanthus, Long eyelashes, Cataract, Sclerocornea OMIM:615877
Hajdu-Cheney Syndrome
Failure to thrive, Hydrocephalus, Thick eyebrow, Osteopenia, Foot acroosteolysis, Osteoporosis, P... OMIM:102500
Immunodeficiency 92
Osteomyelitis, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopenia, Thrombocyt... OMIM:619652
Mucopolysaccharidosis Type 4
Corneal opacity, Joint hyperflexibility, Reduced bone mineral density ORPHA:582
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity, Ventriculomegaly OMIM:120200
Ophthalmomandibulomelic Dysplasia
Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma OMIM:164900
Desmosterolosis
Failure to thrive, Hydrocephalus, Increased bone mineral density, Splenomegaly, Osteopetrosis, Do... ORPHA:35107
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Iris coloboma, Sclerocornea, Holoprosencephaly ORPHA:77298
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Abnormal cortical bone morphology, Hydrocephalus, Epicanthus OMIM:614886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Cataract, Flexion contracture OMIM:615249
Vacterl Association With Hydrocephalus
Radial club hand, Hydrocephalus, Stillbirth, Aqueductal stenosis OMIM:276950
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Intellectual Developmental Disorder, Autosomal Dominant 36
Downslanted palpebral fissures, Hydrocephalus, Ventriculomegaly, Joint hypermobility OMIM:616362
Dubowitz Syndrome
Hydrocephalus, Craniosynostosis, Eczema, Spina bifida occulta, Thrombocytopenia, Telecanthus, Abn... ORPHA:235
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse eyelashes, Opacification of the corneal stroma, Downslanted palpebral fissures, Distichias... OMIM:211370
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Downslanted palpebral fissures, Iris coloboma, Ventriculomegaly, Col... OMIM:615219
Shigellosis
Splenic abscess, Acute colitis, Corneal ulceration, Leukocytosis, Peritonitis, Abscess, Myocardit... ORPHA:810
Pelvis-Shoulder Dysplasia
Hydrocephalus, Short palpebral fissure, Camptodactyly of finger, Microcornea, Hydranencephaly, Ir... ORPHA:2839
Intellectual Developmental Disorder, Autosomal Dominant 35
Downslanted palpebral fissures, Hydrocephalus, Ventriculomegaly, Ptosis OMIM:616355
Cogan Syndrome
Keratitis, Leukocytosis, Thrombocytosis, Uveitis, Anemia, Episcleritis, Conjunctivitis, Inflammat... ORPHA:1467
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
Kindler Epidermolysis Bullosa
Cheilitis, Colitis, Periodontitis, Corneal opacity, Flexion contracture, Recurrent skin infection... ORPHA:2908
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Blau Syndrome
Band keratopathy, Iritis, Camptodactyly of finger, Eczema, Arthritis, Uveitis, Flexion contractur... OMIM:186580
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Decreased body weight, Osteoporosis, Decreased CSF albumin c... OMIM:615273
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... ORPHA:137596
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Blepharitis, Cheilitis, Corneal opacity, Failure to thrive, Absent eyebrow, Abnormal n... ORPHA:2273
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Hydrocephalus, Ventriculomegaly, Splenomegaly OMIM:615630
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Osteomyelitis, Recurrent corneal erosions, Opaci... OMIM:256800
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus, Flexion contracture, Ptosis OMIM:147800
Desmosterolosis
Failure to thrive, Hydrocephalus, Joint contracture of the hand, Downslanted palpebral fissures, ... OMIM:602398
Cousin Syndrome
Hydrocephalus, Joint contracture of the hand, Short palpebral fissure, Microcornea, Camptodactyly... OMIM:260660
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Camptodactyly of finger, Downslanted palpebral fissures, Bicoronal synostosis, Joi... OMIM:619951
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Hydrocephalus, Bone cyst, Flexion contracture, Downslanted palpebral fissures, O... ORPHA:3042
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Flexion contracture, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Cardiofaciocutaneous Syndrome 1
Failure to thrive, Hydrocephalus, Absent eyebrow, Splenomegaly, Hyperextensibility of the finger ... OMIM:115150
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density, Communicating hydrocephalus ORPHA:1237
Lathosterolosis
Myelomeningocele, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Schistocytosis, Patholog... OMIM:607330
Gomez-Lopez-Hernandez Syndrome
Downslanted palpebral fissures, Opacification of the corneal stroma, Craniosynostosis OMIM:601853
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Absent eyebrow, Opacification of the corneal stroma, Recurrent corneal erosions, Ventr... OMIM:308205
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Blue irides, Calvarial hyperostosis, Small for gestational age, Epicanthus, Neonat... OMIM:101800
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Small for gestational age, Upslanted palpebral fissure, Epicanthus, Cataract, Vent... OMIM:257300
Moebius Syndrome
Blepharitis, Corneal opacity, Epicanthus, Arthrogryposis multiplex congenita, Ptosis ORPHA:570
Osteootohepatoenteric Syndrome
Recurrent fractures, Hydrocephalus, Failure to thrive, Reduced bone mineral density, Weight loss,... OMIM:619377
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Plasminogen Deficiency, Type I
Hydrocephalus, Periodontitis, Nephritis, Ventriculomegaly, Conjunctivitis, Dandy-Walker malformation OMIM:217090
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Corneal opacity, Flexion contracture, Generalized joint laxity, Oste... ORPHA:536471
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Chime Syndrome
Corneal opacity, Upslanted palpebral fissure, Epicanthus, Osteolysis, Acute leukemia, Ptosis ORPHA:3474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Buphthalmos, Peters anomaly, Cataract, Ventriculomegaly, Encephalocele, Congenital... OMIM:613150
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Corneal opacity, Leukocytosis, Eosinophilia, Hepatosplenomegaly, Thrombocytope... OMIM:274000
Coccidioidomycosis
Hydrocephalus, Pancreatitis, Hypoglycorrhachia, Abscess, Osteolysis, Pneumonia, Pericarditis, Ost... ORPHA:228123
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Iris coloboma, Encephalocele, Highly arched eyebrow, Ptosis ORPHA:2318
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Hydrocephalus, Corneal opacity, Splenomegaly, Cachexia, Hepatosplenomegal... ORPHA:2072
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
1Q44 Microdeletion Syndrome
Hydrocephalus, Upslanted palpebral fissure, Telecanthus, Epicanthus, Ventriculomegaly, Synophrys ORPHA:238769
Brachymesomelia-Renal Syndrome
Blepharophimosis, Opacification of the corneal stroma, Short palpebral fissure OMIM:113470
Mucopolysaccharidosis, Type Vi
Joint stiffness, Hydrocephalus, Corneal opacity, Flexion contracture, Splenomegaly, Pneumonia, Ce... OMIM:253200
Joubert Syndrome With Renal Defect
Hydrocephalus, Iris coloboma, Encephalocele, Highly arched eyebrow, Ptosis ORPHA:220497
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Flexion contracture, Developmental cataract, Pterygium, Encephalocele, Limitation ... ORPHA:1865
Mucolipidosis Iii Gamma
Joint stiffness, Opacification of the corneal stroma OMIM:252605
Hepatoerythropoietic Porphyria
Corneal ulceration, Recurrent bacterial skin infections, Ectropion, Splenomegaly, Osteopenia, Seb... ORPHA:95159
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Joint stiffness, Periodontitis, Cheilitis, Abnormal pupil morphology, Cornea... ORPHA:534
Icf Syndrome
Lymphopenia, Communicating hydrocephalus, Abnormality of neutrophils, Epicanthus, Anemia ORPHA:2268
Fanconi Anemia
Hydrocephalus, Short palpebral fissure, Abnormal eyelid morphology, Reduced bone mineral density,... ORPHA:84
Joubert Syndrome
Hydrocephalus, Iris coloboma, Encephalocele, Highly arched eyebrow, Ptosis ORPHA:475
Histiocytoid Cardiomyopathy
Congenital aphakia, Hydrocephalus, Corneal opacity, Failure to thrive, Cyanosis, Megalocornea ORPHA:137675
Ifap Syndrome 2
Keratitis, Posterior blepharitis, Cataract, Angular cheilitis, Keratoconjunctivitis sicca OMIM:619016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Hydrocephalus, Cataract, Ventriculomegaly OMIM:616538
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Joint stiffness, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Epicanthus, Spinal dysraphism, Meningocele, Enceph... ORPHA:1908
Cerebrooculonasal Syndrome
Hydrocephalus, Sparse eyebrow, Craniosynostosis, Sparse eyelashes, Epicanthus, Iris coloboma, Ven... OMIM:605627
Osteogenesis Imperfecta
Recurrent fractures, Hydrocephalus, Corneal opacity, Flexion contracture, Small for gestational a... ORPHA:666
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Long palpebral fissure, Knee flexion contracture, Ptosis OMIM:603387
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Recurrent fractures, Hydrocephalus, Thick eyebrow, Craniosynostosis, Osteopenia, Osteoporosis, De... OMIM:245600
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Communicating hydrocephalus ORPHA:2119
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... ORPHA:209959
Peho Syndrome
Hydrocephalus, Flexion contracture, Palpebral edema, Epicanthus, Ventriculomegaly, Arthrogryposis... ORPHA:2836
3C Syndrome
Hydrocephalus, Downslanted palpebral fissures, Iris coloboma, Ventriculomegaly, Dandy-Walker malf... ORPHA:7
Gaucher Disease, Type Iiic
Pancytopenia, Hydrocephalus, Opacification of the corneal stroma, Splenomegaly OMIM:231005
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Curly eyelashes, Chronic irritative conjunctivitis, Chronic neutr... OMIM:258360
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
1Q21.1 Microdeletion Syndrome
Failure to thrive, Hydrocephalus, Epicanthus, Iris coloboma, Cataract, Joint hyperflexibility ORPHA:250989
Knobloch Syndrome
Hydrocephalus, Epicanthus, Ectopia lentis, Cataract, Occipital encephalocele, Joint hyperflexibility ORPHA:1571
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Intellectual Developmental Disorder, Autosomal Dominant 65
Upslanted palpebral fissure, Thin eyebrow, Noncommunicating hydrocephalus, Narrow palpebral fissu... OMIM:619320
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Joint hyperflexibility ORPHA:2181
Tetrasomy 5P
Failure to thrive, Hydrocephalus, Upslanted palpebral fissure, Cyanosis, Epicanthus ORPHA:3309
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Monosomy 9Q22.3
Hydrocephalus, Large for gestational age, Downslanted palpebral fissures, Epicanthus, Cataract, V... ORPHA:77301
Focal Dermal Hypoplasia
Corneal opacity, Camptodactyly of finger, Iris coloboma, Hypoplasia of the iris, Coarse metaphyse... ORPHA:2092
Congenital Erythropoietic Porphyria
Corneal ulceration, Recurrent bacterial skin infections, Ectropion, Splenomegaly, Osteopenia, Ani... ORPHA:79277
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Epicanthus, Ventriculomegaly OMIM:617866
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Sparse eyebrow, Craniosynostosis, Splenomegaly, Osteopenia, Myelopathy, Megalo... OMIM:252500
Fabry Disease
Corneal opacity, Reduced bone mineral density, Conjunctival telangiectasia, Arthritis, Cataract, ... ORPHA:324
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Hydrocephalus, Ventriculomegaly OMIM:618476
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Failure to thrive, Hydrocephalus, Joint hyperflexibility, Ventriculomegaly ORPHA:60040
Hutchinson-Gilford Progeria Syndrome
Joint stiffness, Corneal ulceration, Corneal opacity, Absent eyebrow, Limitation of movement at a... ORPHA:740
Galactosialidosis
Hepatosplenomegaly, Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Hydrocephalus, Chronic myelogenous leukemia, Corneal opacit... ORPHA:636
Joubert Syndrome With Ocular Defect
Hydrocephalus, Iris coloboma, Encephalocele, Highly arched eyebrow, Ptosis ORPHA:220493
Holoprosencephaly
Hydrocephalus, Thick eyebrow, Holoprosencephaly, Upslanted palpebral fissure, Highly arched eyebr... ORPHA:2162