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Gene: Adam17 MGI:1096335

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Gene Summary

Name:
a disintegrin and metallopeptidase domain 17
Synonyms:
Tace,  CD156b

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Adam17tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal vibrissa morphology Adam17tm1a(EUCOMM)Wtsi HET Early adult 8.88×10-05

Download data as:  TSV  XLS

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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 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 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 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
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 100% (2 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 Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 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 50% (1 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 50% (1 of 2)
Stomach N/A heterozygote 100% (2 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 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

14 Images

View images
Legacy Phenotype Associated Images
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI

View all 61 images

Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Adam17 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.

The table below shows human diseases associated to Adam17 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Skin And Bowel Disease, Neonatal, 1
Paronychia, Villous atrophy, Duodenitis, Pustule, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Neonatal Inflammatory Skin And Bowel Disease
Horizontal eyebrow, Chapped lip, Bloody diarrhea, Anal fissure, Psoriasiform dermatitis, Perianal... ORPHA:294023

The table below shows human diseases predicted to be associated to Adam17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:187950
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:619267
Brittle Cornea Syndrome 1
Keratoconus, Atypical scarring of skin, Abnormal cornea morphology, Dentinogenesis imperfecta, Mi... OMIM:229200
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Cardiofaciocutaneous Syndrome 4
Cataract, Decreased response to growth hormone stimulation test, Telecanthus, Alopecia of scalp, ... OMIM:615280
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Ptosis, Corneal op... ORPHA:1067
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Noonan Syndrome 9
Sparse eyebrow, Downslanted palpebral fissures, Prominent corneal nerve fibers, Cryptorchidism, V... OMIM:616559
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Recurrent viral upper respiratory tract infectio... OMIM:619773
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Brittle Cornea Syndrome
Corneal scarring, Mitral valve prolapse, Abnormality of hair pigmentation, Hernia, Pulmonic steno... ORPHA:90354
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Micropht... OMIM:212550
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Alopecia, Atrophic scars, Corneal scarring, Nail dystrophy, Nail dysplasia, Abnormal es... OMIM:226600
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Microphthalmia/Coloboma 4
Microphthalmia, Microcornea, Coloboma, Orbital cyst OMIM:251505
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Keratitis, Oral leukoplakia, Elbow flexion contracture, Furrowed tong... OMIM:148210
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Abnormality of the nail, Sparse body hair, Curly eyelashes, Brittle hair, Curly h... OMIM:602400
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Median cleft palate, Corneal opacity, Microphthalmia, Hepatomegaly ORPHA:2432
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo... OMIM:610921
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, P... ORPHA:1473
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract, Hepatomegaly ORPHA:79281
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Dermatitis, Atopic
Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Pruritus, Con... OMIM:603165
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Downslanted palpebral fissures, Epicanthus, Posterior e... ORPHA:96125
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... ORPHA:70589
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Idiopathic Achalasia
Gastroesophageal reflux, Malnutrition, Decreased circulating prealbumin concentration, Weight los... ORPHA:930
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:273800
Mucolipidosis Type Iii
Abnormal heart valve morphology, Inguinal hernia, Abnormal aortic valve morphology, Corneal opaci... ORPHA:577
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Downslanted palpebral fissures, Epicanthus, Hepatomegaly, High palate OMIM:614882
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H... ORPHA:83461
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Upslanted palpebral fissure, Epicanthus, Microphthalmia, High palate ORPHA:2528
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia OMIM:245650
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, High, narrow palate, Microcornea, Anterior synechiae of the anterior chamb... ORPHA:3214
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea OMIM:619398
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Apnea, Cyanosis, Epicanthus,... ORPHA:2257
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Hypoxemia, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachyp... ORPHA:70587
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Generalized hirsutism, Hernia, Cor... ORPHA:93476
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea... ORPHA:137599
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair, Juvenile cataract OMIM:617251
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys... OMIM:267450
Copper Deficiency, Familial Benign
Failure to thrive, Seborrheic dermatitis, Curly hair, Decreased circulating copper concentration,... OMIM:121270
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Noonan Syndrome 4
Sparse eyebrow, High anterior hairline, Downslanted palpebral fissures, Hypertrophic cardiomyopat... OMIM:610733
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Noonan Syndrome 10
Sparse eyebrow, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Prominent corneal ne... OMIM:616564
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Osteomyelitis, Corneal scarring, N... OMIM:256800
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Gómez-López-Hernández Syndrome
Telecanthus, Toenail dysplasia, Alopecia of scalp, Corneal opacity ORPHA:1532
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia OMIM:614096
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Hyphema, Corneal keratic precipitates, Pseudophakia,... ORPHA:209959
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... OMIM:615888
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Porphyria Cutanea Tarda
Cutaneous abscess, Viral hepatitis, Hypertrichosis, Corneal scarring, Hirsutism, Scarring, Chroni... ORPHA:101330
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma ORPHA:64741
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:619003
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Ventricular septal... ORPHA:290
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Pulmonary hypoplasia OMIM:601809
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Erythroderma, Ectropion, Pruritus, Abnormality of the nail, Corneal erosion ORPHA:79394
Winchester Syndrome
Hirsutism, Corneal opacity OMIM:277950
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Traboulsi Syndrome
Cataract, Bifid uvula, Ectopia lentis, Phakodonesis, Downslanted palpebral fissures, Microphthalm... OMIM:601552
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Corneal scarring, Frontal upsweep of hair, Broad eyebrow, Colitis, Bronchiec... OMIM:301220
Noonan Syndrome 8
Eczematoid dermatitis, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Cryptorchidis... OMIM:615355
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microcornea, Small nail, Trichorrhexis nodosa, Microphthalmia, Nail dystrophy, Con... OMIM:234050
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Nail dysplasia, Micr... ORPHA:139471
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland, Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenes... OMIM:614195
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Costello Syndrome
Keratoconus, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Abnormal hair morphology, Abno... ORPHA:3071
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Trichiasis, Pigmentary retinopathy, Peters anomaly, Tricuspid regurgitatio... OMIM:618460
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Vasculiti... ORPHA:279914
Trichohepatoenteric Syndrome 2
Sparse hair, Decreased circulating iron concentration, Diarrhea, Small for gestational age, Failu... OMIM:614602
Leber Congenital Amaurosis 4
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... OMIM:604393
Cardiofaciocutaneous Syndrome 2
Fine hair, Mitral valve prolapse, Ptosis, Absent eyebrow, Curly hair, High palate, Sparse hair OMIM:615278
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon, Anophthalmia, Microphthalmia OMIM:611038
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne... ORPHA:2032
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Low anterior hairline, Left ventricular hypertrophy, Coloboma, Retinal detachment, Corn... OMIM:613153
Trisomy 13
High, narrow palate, Cataract, Optic atrophy, Aplasia/Hypoplasia of the iris, Cryptorchidism, Ven... ORPHA:3378
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... OMIM:614201
Pneumocystosis
Respiratory insufficiency, Pleural effusion, Interstitial pneumonitis, Multiple pulmonary cysts, ... ORPHA:723
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneu... ORPHA:90117
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Recurrent skin infections, Corneal ulceration, Gastrointestinal dysmotility OMIM:616488
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Oculoauricular Syndrome
Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod dystrophy, Pos... OMIM:612109
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Inguinal hernia, Keratoglobus, ... OMIM:614170
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Chops Syndrome
High, narrow palate, Cataract, Optic atrophy, Coarse hair, Gastroesophageal reflux, Aspiration pn... OMIM:616368
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cataract, Alopecia, Atrichia, Abnormal heart morphology, Decreased testicular size, Cr... ORPHA:1867
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Ptosis, Microphthalmia, Iris coloboma OMIM:300915
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Downslanted palpebral fissures, Camptodactyly of finger, C... ORPHA:1617
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Aortic regurgitation, Sparse scalp hair, Eczematoid dermatitis, Downslanted pa... OMIM:607721
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Abnormality of retinal pigmentation, Epicanthus, Distal arthrogryposis,... OMIM:108145
Congenital Pulmonary Airway Malformation
Abnormal pleura morphology, Respiratory insufficiency ORPHA:2444
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Nocturnal hypoventilation, Lipoid pneumonia, Respiratory failure OMIM:620326
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Downslanted palpebral fissures, Abnormal heart morpho... OMIM:175700
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity ORPHA:1980
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal at... ORPHA:77298
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... ORPHA:178320
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Obesity ORPHA:88643
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Abnormal optic nerve morphology, Megalocornea, Tricuspid regurgitation, Camp... ORPHA:1101
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Sparse eyebrow, Coarse hair, Downslanted palpebral fissures, Sparse eyelas... ORPHA:35173
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Downslanted palpebral fissures, Astigma... OMIM:152950
Dermoids Of Cornea
Corneal opacity OMIM:304730
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Severe Acute Respiratory Syndrome
Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia, Respiratory failure requiri... ORPHA:140896
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Absence o... OMIM:601675
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Corneal opacity ORPHA:2370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology ORPHA:1208
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Gastroesophageal reflux, Corneal scarring, Ventricular septal defect, Bradycardia, Retinal hemorr... OMIM:614653
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr... OMIM:187800
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Developmental c... OMIM:618815
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, C... ORPHA:90654
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th... OMIM:609218
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Downslanted palpebral fissures, Hypertrophic cardiomyopath... OMIM:611553
Noonan Syndrome 6
Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Bilateral ptosis, Cryptorchidism, Lo... OMIM:613224
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... OMIM:610256
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis, Stillbirth, Pulmonary hypoplasia OMIM:617468
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Bowen-Conradi Syndrome
Death in infancy, Abnormal lung lobation ORPHA:1270
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Cleft palate OMIM:300261
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory distress, Bilateral ptosis, Respirato... ORPHA:254875
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Noonan Syndrome 7
Palpebral thickening, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Low posterior ... OMIM:613706
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dry hair, Myofiber disarray, Mitral regurgitation, Ventricular septal defect, Woolly scalp hair, ... OMIM:620519
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Harel-Yoon Syndrome
Optic atrophy, Hypertrophic cardiomyopathy, Upslanted palpebral fissure, Developmental cataract, ... OMIM:617183
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Leber Congenital Amaurosis 9
Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... OMIM:608553
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Bifid uvula, Decreased testicular size, Cryptorchidism, Hirsutism, Abnorma... ORPHA:293967
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Skin rash, Generalized hirsutism, Abnormal testis m... ORPHA:317
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic... OMIM:608647
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Epicanthus, Hirsutism ORPHA:85288
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Abnormal pattern of respiration, Respiratory insufficiency ORPHA:724
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Punctate keratitis, Scarring alopecia of scal... OMIM:602540
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Microtriplication 11Q24.1
Keratoconus, Long eyelashes, Thick eyebrow, Upslanted palpebral fissure, Cleft palate, Synophrys ORPHA:289522
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia, Res... ORPHA:264675
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory insuf... ORPHA:60032
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Highly arched eyebrow, Ectopia lentis, Intestinal malrotation, Flexion con... ORPHA:2712
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pa... OMIM:616171
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Trichohepatoneurodevelopmental Syndrome
Recurrent otitis media, Ventricular septal defect, Epicanthus, Curly hair, Hepatomegaly, High pal... OMIM:618268
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Oculodentodigital Dysplasia
Cataract, Microcornea, Optic atrophy, Abnormality iris morphology, Fine hair, Camptodactyly of fi... ORPHA:2710
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cellulitis, Abnormal hair morphology, Anophthalmia, Abnormal toenail morphology, Abnormal nasolac... ORPHA:2526
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Anophthalmia, Epicanthu... OMIM:615877
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Porphyria, Congenital Erythropoietic
Alopecia, Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Hypertrichosi... OMIM:263700
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid... ORPHA:1794
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Recurrent respiratory infections, Ptosis, Pulmonary hypoplasia OMIM:255320
Distal Duplication 14Q
Abnormal lung lobation ORPHA:1705
Marsili Syndrome
Corneal scarring OMIM:147430
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Upslanted palpebral fissure, Cryptorchidism... ORPHA:496790
Walker-Warburg Syndrome
Cataract, Microcornea, Optic atrophy, Bifid uvula, Abnormal optic nerve morphology, Cryptorchidis... ORPHA:899
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Frontonasal Dysplasia 1
Cataract, Joint contracture of the hand, Tetralogy of Fallot, Median cleft palate, Pericallosal l... OMIM:136760
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Developmental cataract, Microphthalmia, Macroglossia, Abnormal left ventricular f... OMIM:613155
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Cataract, Glossoptosis, Ventricular septal defect OMIM:614876
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Cleft palate OMIM:120433
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Braddock-Carey Syndrome 1
Anteriorly placed anus, Downslanted palpebral fissures, Telecanthus, Aortic valve prolapse, Ventr... OMIM:619980
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Ventricular septal defect, Low post... ORPHA:85194
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
Noonan Syndrome 2
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspi... OMIM:605275
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Gastroesophageal reflux, Ventricular escape rhythm, Patent foramen ovale, Retinal de... ORPHA:542306
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Hypoxemia, Pleural effusion, Tachypnea, Pneumothorax, Acute infe... ORPHA:36238
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricu... OMIM:618652
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Ventricular septal defect, Microphthalmia, Hepatomegaly, Optic disc pallor OMIM:613730
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane OMIM:148200
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Abnormal EKG, Abnormal heart morphology, Cherry red spot of the macula, ... ORPHA:93400
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Proboscis Lateralis
Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Ventricular septal def... ORPHA:141099
Warburg Micro Syndrome 1
Optic atrophy, Microcornea, Facial hypertrichosis, Hypertrichosis, Cryptorchidism, Ptosis, Develo... OMIM:600118
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Coloboma, Micro... OMIM:610125
Aids Wasting Syndrome
Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia ORPHA:90081
Naxos Disease
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair ORPHA:34217
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Downslanted p... OMIM:620609
Naxos Disease
Sparse body hair, Premature ventricular contraction, Arrhythmia, Curly hair, Sparse eyebrow, Subu... OMIM:601214
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections ORPHA:345
Refsum Disease, Classic
Cataract, Cardiomyopathy, Congestive heart failure, Retinal degeneration, Cardiomegaly, Arrhythmi... OMIM:266500
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Upslanted palpebral fissure, Astigmatism, Knee flexion contract... OMIM:619694
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Leopard Syndrome 3
Palpebral thickening, Downslanted palpebral fissures, Tetralogy of Fallot, Abnormal aortic valve ... OMIM:613707
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Anophthalmia Plus Syndrome
Anophthalmia, Eyelid coloboma, Bilateral cleft palate, Blepharophimosis, Iris coloboma, Cleft palate ORPHA:1104
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... OMIM:251270
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Hamartoma of the orbital region, Bilateral microphthalmos, Lacrimal pun... ORPHA:2399
Chromosome 6Q24-Q25 Deletion Syndrome
Short palpebral fissure, Hooded eyelid, Upslanted palpebral fissure, Mitral valve prolapse, Dyspl... OMIM:612863
Transketolase Deficiency
Cataract, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Seborrheic ... ORPHA:488618
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress ORPHA:2004
Morquio Syndrome C
Corneal opacity OMIM:252300
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Dysequilibrium Syndrome
Cataract ORPHA:1766
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Gastroesophageal reflux, Peters anomaly, Chorioretinal coloboma, Abnormal heart mo... ORPHA:494344
Encephalocraniocutaneous Lipomatosis
Alopecia, Subcutaneous lipoma, Hypoplasia of the iris, Cryptorchidism, Eyelid coloboma, Ventricul... OMIM:613001
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract, Low anterior hairline, Atrial septal defect, Ventricular septal defect OMIM:608227
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Downslanted palpebral fissures, Respiratory distress, Epicanthus, Dyspnea, Recurrent respiratory ... ORPHA:2759
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Visceromegaly, Cherry red spot of the macula, Abnormal heart morphology,... ORPHA:93399
Cat-Eye Syndrome
Chorioretinal coloboma, Downslanted palpebral fissures, Microphthalmia, Anal atresia, Iris coloboma ORPHA:195
Harlequin Ichthyosis
Ectropion, Cataract, Sudden cardiac death, Erythroderma ORPHA:457
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Abdominal pain, Inflammation of the large intestine, Nail dystrophy ORPHA:46487
Atelosteogenesis, Type Ii
Respiratory insufficiency, Stillbirth, Death in infancy, Pulmonary hypoplasia OMIM:256050
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Ptosis, Mitral valve prolapse ORPHA:2868
Arterial Tortuosity Syndrome
Aortic valve stenosis, Keratoconus, Ventricular hypertrophy, Short palpebral fissure, Aortic regu... OMIM:208050
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ... OMIM:602562
Cockayne Syndrome Type 2
Anophthalmia, Cryptorchidism, Scarring, Enamel hypoplasia, Developmental cataract, Hepatomegaly, ... ORPHA:90322
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Microphthalmia, Bilateral cleft palate,... OMIM:619339
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration ORPHA:77260
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Highly arched eyebrow, Chorioretinal coloboma, Cryptorchidism, Low posteri... OMIM:243310
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Hypoxemia, Bronchiectasis ORPHA:1303
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Retinal degeneration, Corneal opacity OMIM:607016
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Microphthalmia With Linear Skin Defects Syndrome
Mitral regurgitation, Mitral valve prolapse, Anophthalmia, Abnormal nasolacrimal system morpholog... ORPHA:2556
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia, Syndromic 8
Microcornea, Short palpebral fissure, Cryptorchidism, Blepharophimosis, Microphthalmia, Cleft palate OMIM:601349
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Achlorhydria, Corneal opacity, Opacification of the corneal ... OMIM:252650
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus, Cleft palate OMIM:244600
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia ORPHA:1302
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Microspherophakia, Ectopia lentis, Shallow anterior chamber, Pulmonic sten... OMIM:614819
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Alagille Syndrome
Keratoconus, Downslanted palpebral fissures, Abnormal pupil morphology, Cryptorchidism, Ventricul... ORPHA:52
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Hypoxemia ORPHA:70588
Leopard Syndrome 2
Hypertrophic cardiomyopathy, Epicanthus, Curly hair, Downslanted palpebral fissures OMIM:611554
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic atrophy, Optic disc hypoplasia, Upslanted palpebral fissure, Epicanthus, Optic... ORPHA:401777
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Bilateral ptosis, Corneal scarring, Impaired oral bolus fo... ORPHA:404454
Frontofacionasal Dysplasia
Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Upper eyelid coloboma... ORPHA:1791
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Abnormal hair morphology, Astigmatism, Macular dots, Enam... OMIM:270200
Cataract 42
Cataract, Developmental cataract OMIM:115900
Xfe Progeroid Syndrome
Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels, Absence of subcutaneous fa... OMIM:610965
Trichothiodystrophy
Cryptorchidism, Ventricular septal defect, Epicanthus, Brittle hair, Split nail, High, narrow pal... ORPHA:33364
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar... OMIM:129500
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Sparse medial eyebrow, Muscular ventricular septal defect, Epicanthus, Per... OMIM:618804
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Curly hair, Pulmoni... OMIM:615279
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Noonan Syndrome 14
Aortic regurgitation, High, narrow palate, Sparse eyebrow, Downslanted palpebral fissures, Hypert... OMIM:619745
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterio... ORPHA:79098
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... OMIM:620296
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353277
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal hea... ORPHA:1345
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
3Q29 Microduplication Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Ventricular septal defect, Camptodactyly of t... ORPHA:251038
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Dilated cardiomyopathy, Pancreatitis, Reduced systolic function, Microphthalmia, Hepato... OMIM:618805
Mulibrey Nanism
Pigmentary retinopathy, Microglossia, Congestive heart failure, Astigmatism, Cardiomegaly, Perica... OMIM:253250
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Pierpont Syndrome
Microcornea, High anterior hairline, Telecanthus, Cryptorchidism, Abnormal subcutaneous fat tissu... ORPHA:487825
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Small nail, Downslanted palpebral fissures, Telecanthus, Astigmatism, Cryptorchidism,... OMIM:301056
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Vaginal hernia, Optic disc... ORPHA:3173
Microphthalmia/Coloboma 9
Microcornea, Microphthalmia, Ptosis, Retinal detachment, Ocular anterior segment dysgenesis, Narr... OMIM:615145
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia ORPHA:93296
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Narrow palpebral fissure, Pulmonary hypoplasia OMIM:236500
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Mucoid d... OMIM:615767
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Joint contractu... OMIM:615704
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... OMIM:204200
Avian Influenza
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Dyspnea, Conjunctivit... ORPHA:454836
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Short palpebral fissure, Chorioretinal coloboma, Downslanted palpebral f... ORPHA:284169
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Waardenburg Syndrome Type 3
Atelectasis, Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Blepharophimosis, Acrocy... ORPHA:896
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Erythroderma, Conjunctivitis, Sparse hair, Fragile nails OMIM:242150
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Abnormal blood gas level, Dyspnea, Hypoxemia, Respiratory failure ORPHA:70578
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Horizontal eyebrow, Retinal coloboma, Abnormal heart morphology, Astigmatism, Epicanthu... OMIM:618571
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short palpebral fissure, Gastroesophageal reflux, Mitral valve prolapse, Almond-shaped palpebral ... OMIM:300986
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Eczematoid dermatitis, Downslanted palpebral fissures, Camptodac... ORPHA:284160
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Cyanosis ORPHA:2414
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cofs Syndrome
Cataract, Optic atrophy, Camptodactyly of finger, Abnormality of retinal pigmentation, Microphtha... ORPHA:1466
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:224410
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia, Retinal dys... ORPHA:324416
Platelet Glycoprotein Iv Deficiency
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Agnathia-Otocephaly Complex
Respiratory distress, Downslanted palpebral fissures, Pulmonary hypoplasia OMIM:202650
Gombo Syndrome
Abnormal heart morphology, Microphthalmia OMIM:233270
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Highly arched eyebrow, Short palpebral fissure, Gastroesophageal reflux, Telecanthus, Thick eyebr... OMIM:617360
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Refsum Disease
Cataract, Cardiomyopathy, Retinopathy, Abnormality of retinal pigmentation, Splenomegaly, Nail dy... ORPHA:773
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin, Microphthalmia ORPHA:291
Fetal Akinesia Syndrome, X-Linked
Telecanthus, Blepharophimosis, Narrow palpebral fissure, Stillbirth OMIM:300073