Gene Summary

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

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vibrissa morphology Adam17tm1a(EUCOMM)Wtsi HET Early adult 8.88×10-05

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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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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

7 Images

Legacy Phenotype Associated Images

View all 61 images

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
Blepharitis, Erythroderma, Onychogryposis, Pustule, Villous atrophy, Duodenitis, Paronychia OMIM:614328
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Bloody diarrhea, Blepharitis, Perianal dermatitis, Recurrent... ORPHA:294023

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Myxoma, Intracardiac
Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma OMIM:255960
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Thrombocythemia 1
Thrombocytosis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet agg... OMIM:187950
Glanzmann Thrombasthenia 2
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Dec... OMIM:619267
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Atypical scarring of skin, Keratoglobus, Decreased corneal thickness,... OMIM:229200
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Ptosis, Abnor... ORPHA:1067
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea... OMIM:263000
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Cataract, Optic nerve hypoplasia, Telecanthus, Sparse hair, Ptosi... OMIM:615280
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Flexion contracture, Corneal scarring, Enamel hypoplasia, Cataract, Nail dysplasia, Nail dystroph... OMIM:226600
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Blepharospasm, Co... ORPHA:171673
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Noonan Syndrome 9
Cryptorchidism, Sparse eyebrow, Ptosis, Pulmonic stenosis, Prominent corneal nerve fibers, Downsl... OMIM:616559
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Orbital cyst, Coloboma OMIM:251505
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Hernia, Retinal detachment, Decreased corneal ... ORPHA:90354
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microcornea, Corneal opacity, Hepatomegaly, Microphthalmia ORPHA:2432
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Ichthyosis, Congenital, Autosomal Recessive 11
Blepharitis, Brittle hair, Pili torti, Corneal opacity, Sparse eyebrow, Curly hair, Sparse hair OMIM:602400
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Dermatitis, Atopic
Pruritus, Recurrent skin infections, Cataract, Eczema, Allergic rhinitis, Atopic dermatitis, Kera... OMIM:603165
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Corneal ulceration, Oral leukoplakia, Corneal scarring, Trichiasis, Sparse eyebrow, Nail dysplasi... OMIM:148210
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Cough, Dyspnea ORPHA:60026
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumul... OMIM:265120
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Oxy... ORPHA:2302
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, High palate, Microcornea, Cataract, Microphthalmia, Epicanthus ORPHA:2528
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia OMIM:614096
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes ORPHA:903
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Cataract, Hepatomegaly, Downslanted palpebral fissures, Epicanthus OMIM:614882
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Anterior synechiae of the anterior chamber, Microcornea, High, narrow p... ORPHA:3214
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi, Juvenile cataract OMIM:617251
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Small for gestational age, Decreased serum iron, Colitis, Sparse hair,... OMIM:614602
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Khan-Khan-Katsanis Syndrome
Flexion contracture, Corneal scarring, Patent foramen ovale, Epiblepharon, Peters anomaly, Pigmen... OMIM:618460
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Nail dysplasia, Nail dystrophy, Osteomyelitis, Keratitis, S... OMIM:256800
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Pulmonary Blastoma
Recurrent pneumonia, Cough, Pleuropulmonary blastoma, Dyspnea ORPHA:64741
Mucolipidosis Type Iii
Abnormal heart valve morphology, Corneal opacity, Abnormal aortic valve morphology, Acne, Inguina... ORPHA:577
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Elevated circulating C-reactive protein concentration OMIM:619398
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:611638
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Long eyelashes, Sclerocornea, Microcornea, Cataract, Microphthalmia, Coloboma, Ecto... OMIM:615877
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Idiopathic Achalasia
Gastroesophageal reflux, Malnutrition, Dysphagia, Recurrent aspiration pneumonia, Weight loss, De... ORPHA:930
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Abnormal retinal morphology, Sparse lateral ... ORPHA:170
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Chorioretinal coloboma, Cataract OMIM:274205
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Corneal scarring, Colitis, Bronchiectasis, Broad eyebrow, Frontal upsweep of... OMIM:301220
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal resp... ORPHA:2257
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Cigarette-paper scars, Inguinal hernia, Narrow palpebral fissure, Bilateral microphthalmos OMIM:608763
Hurler-Scheie Syndrome
Generalized hirsutism, Abnormal heart valve morphology, Hernia, Corneal opacity, Splenomegaly, He... ORPHA:93476
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Porphyria Cutanea Tarda
Scarring, Viral hepatitis, Corneal scarring, Cutaneous abscess, Increased fecal porphyrin, Chroni... ORPHA:101330
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Pulmonary hypoplasia OMIM:619003
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Congenital Non-Bullous Ichthyosiform Erythroderma
Abnormality of the nail, Pruritus, Erythroderma, Ectropion, Alopecia, Keratitis, Corneal erosion ORPHA:79394
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Hepatomegaly, Pigmentary retinopathy, Keratoconus, A... OMIM:204000
Noonan Syndrome 10
High palate, Mitral regurgitation, Atrial septal defect, Cryptorchidism, Sparse eyebrow, Hypertro... OMIM:616564
Gómez-López-Hernández Syndrome
Telecanthus, Alopecia of scalp, Corneal opacity, Toenail dysplasia ORPHA:1532
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atel... ORPHA:70587
Copper Deficiency, Familial Benign
Early balding, Failure to thrive, Seborrheic dermatitis, Abnormal circulating copper concentratio... OMIM:121270
Aniridia 3
Cataract OMIM:617142
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Choriocapillaris atrophy OMIM:613835
Noonan Syndrome 4
Atrial septal defect, Cryptorchidism, Sparse eyebrow, Blue irides, Hypertrophic cardiomyopathy, P... OMIM:610733
Witkop Syndrome
Small nail, Fine hair, Nail pits, Sparse hair, Concave nail, Ridged nail OMIM:189500
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia, Ankyloblepharon OMIM:611038
Intermediate Uveitis
Band keratopathy, Optic neuritis, Macular scar, Vitreous haze, Cataract, Cystoid macular edema, T... ORPHA:279914
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Brittle hair, Woolly hair, Microcornea, Nail dysplasia, Concave nail, Trichorrhexis n... OMIM:234050
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, High palate, Anophthalmia, Sclerocornea, Microcornea, Cataract, Cryptorch... ORPHA:139471
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Congenital Rubella Syndrome
Atrial septal defect, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegal... ORPHA:290
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Phthisis bulbi, Persistent pupillary membrane, Microcornea, Ca... OMIM:221900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Microphthalmia, Optic disc pallor, Macular atrophy, Optic atr... OMIM:616171
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Hypoxemia, Airway obstruction, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Neurotrophic Keratopathy
Corneal ulceration, Corneal perforation, Corneal scarring, Astigmatism, Corneal stromal edema, An... ORPHA:137596
Oculoauricular Syndrome
Developmental cataract, Morning glory anomaly, Retinal detachment, Ocular anterior segment dysgen... OMIM:612109
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Mucous Membrane Pemphigoid
Corneal opacity, Atypical scarring of skin ORPHA:46486
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound,... ORPHA:1302
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal pattern of respiration, Coug... ORPHA:724
Trichomegaly
Cataract, Long eyelashes OMIM:190330
2Q24 Microdeletion Syndrome
Cataract, Microphthalmia, Coloboma, Downslanted palpebral fissures, Camptodactyly of finger, Clef... ORPHA:1617
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Prolonged bleeding time, Impa... OMIM:273800
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 36
Cataract OMIM:613887
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Microphthalmia, Coloboma, Left ventricular hypertr... OMIM:613153
Trisomy 13
Anophthalmia, Optic atrophy, Atrial septal defect, Cryptorchidism, Cataract, Abnormal eyelash mor... ORPHA:3378
Noonan Syndrome 8
Mitral regurgitation, Atrial septal defect, Cryptorchidism, Hypertrophic cardiomyopathy, Ptosis, ... OMIM:615355
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Inguinal hernia, Keratoconu... OMIM:614170
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Clinodactyly, Abnormal heart valve morphology, Short palm, Pulmonic stenosis, Ptosis, Small hand,... OMIM:126190
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Hepatomegaly ORPHA:1980
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Arthrogryposis, Distal, Type 5
High palate, Distal arthrogryposis, Keratoglobus, Blepharophimosis, Astigmatism, Abnormality of r... OMIM:108145
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Costello Syndrome
Woolly hair, Hypoplastic toenails, Abnormal hair morphology, Cryptorchidism, Gastroesophageal ref... ORPHA:3071
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment, C... ORPHA:90654
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Cardiofaciocutaneous Syndrome 2
High palate, Fine hair, Ptosis, Absent eyebrow, Curly hair, Sparse hair, Mitral valve prolapse OMIM:615278
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Weight loss, Recurrent aphthous stomatitis, Inflammation of the large intestine,... OMIM:266600
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Ptosis, Microphthalmia, Coloboma, Cleft palate OMIM:120433
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Atrichia, Cryptorchidism, Cataract, Corneal opacity, Nail dystrophy, Abnormal heart mo... ORPHA:1867
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Pulmonary hypoplasia OMIM:601809
Trichothiodystrophy 1, Photosensitive
Small nail, Brittle hair, Flexion contracture, Pili torti, Microcornea, Cataract, Fine hair, Inte... OMIM:601675
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Atrial septal defect, Decreased circulating antibody level, Abnormal h... OMIM:617744
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigma... OMIM:152950
Hypotrichosis 7
Sparse hair, Sparse eyebrow, Woolly hair, Sparse eyelashes OMIM:604379
X-Linked Dominant Chondrodysplasia Punctata
High palate, Patchy alopecia, Abnormality of the nail, Flexion contracture, Coarse hair, Microcor... ORPHA:35173
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:608647
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Ta... ORPHA:79126
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
High palate, Aortic regurgitation, Long eyelashes, Atrial septal defect, Cryptorchidism, Astigmat... OMIM:607721
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity, Hypoalbuminemia ORPHA:88643
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Microp... ORPHA:77298
Acute Lung Injury
Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory failure, Dyspnea, Respi... ORPHA:178320
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Retinal degeneration, Aortic regurgitation OMIM:607016
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal vitreous humor morphology, Anophthalmia, Corneal dystrophy, Camptodactyly of finger, Abn... ORPHA:1101
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Coloboma, Ptosis OMIM:300915
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Porphyria, Congenital Erythropoietic
Cholelithiasis, Hypertrichosis, Corneal scarring, Atypical scarring of skin, Splenomegaly, Loss o... OMIM:263700
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology ORPHA:1208
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress OMIM:615993
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia, Corneal guttata, Corneal dystrophy OMIM:609141
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Obesity, Abnormal intestine morphology, Dysphagia, ... ORPHA:70482
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow, Erythroderma, S... OMIM:602540
Retinitis Pigmentosa
Atypical scarring of skin, Abnormality of retinal pigmentation, Cataract, Abnormal testis morphol... ORPHA:791
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Abnormal cardiac septum morphology ORPHA:2370
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Contracture of the proximal interphalangeal joint of the 5th finger, Cryptorchidism,... ORPHA:293967
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respira... ORPHA:2004
Erythrokeratodermia Variabilis
Generalized hirsutism, Abnormality of the nail, Abnormal hair morphology, Cataract, Corneal opaci... ORPHA:317
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Cataract, Hirsutism ORPHA:85288
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Flexion contracture, Cryptorchidism, Corneal opac... OMIM:618815
Microtriplication 11Q24.1
Upslanted palpebral fissure, Long eyelashes, Thick eyebrow, Synophrys, Keratoconus, Cleft palate ORPHA:289522
Oculomaxillofacial Dysostosis
Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Corneal opacity, Aplasia/Hypoplas... ORPHA:1794
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal corneal endothelium morphology, Ocular anterior segment dysgenesis OMIM:614195
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Thr... OMIM:187800
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring OMIM:616488
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Optic disc hypoplasia, Periphera... ORPHA:137902
Noonan Syndrome 5
Small nail, Arrhythmia, Atrial septal defect, Cryptorchidism, Sparse eyebrow, Hypertrophic cardio... OMIM:611553
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Acne Inversa, Familial, 3
Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Noonan Syndrome 6
Long eyebrows, Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis, Downslanted palpeb... OMIM:613224
Oculofaciocardiodental Syndrome
Ectopia lentis, Microcornea, Cataract, Retinal detachment, Intestinal malrotation, Highly arched ... ORPHA:2712
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Bilateral ptosis, Respiratory insufficiency due to musc... ORPHA:254875
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract, Flexion contracture OMIM:617393
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Erythrocytosis, Familial, 8
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, Normochromic anemia OMIM:222800
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Arterial Tortuosity Syndrome
Hiatus hernia, High palate, Flexion contracture, Aortic regurgitation, Blepharophimosis, Telangie... OMIM:208050
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Pulmonic stenosis, Microspherophakia, Aortic valve stenosis, Ectopia le... OMIM:614819
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss OMIM:191390
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Pulmonary hemorrhage, Tachypnea, Cough, Dyspnea, Decreased DLCO, ... OMIM:616414
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Atrial septal defect, Hypertrophic cardiomyopathy, Palpe... OMIM:613706
Frontonasal Dysplasia 1
Widow's peak, Tetralogy of Fallot, Median cleft palate, Cataract, Pericallosal lipoma, Ptosis, Mi... OMIM:136760
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Microphth... OMIM:611040
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Corneodermatoosseous Syndrome
Erythroderma, Hypomature dental enamel, Corneal dystrophy, Onycholysis OMIM:122440
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency, Bilateral lung agenesis OMIM:601612
Minicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Ptosis, Respiratory insufficiency, Pulmonary hypoplasia OMIM:255320
Morquio Syndrome C
Corneal opacity OMIM:252300
Walker-Warburg Syndrome
Anophthalmia, Bifid uvula, Chorioretinal dysplasia, Optic atrophy, Abnormality of the optic nerve... ORPHA:899
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
Nasopalpebral Lipoma-Coloboma Syndrome
Widow's peak, Multiple lipomas, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse ey... ORPHA:2399
Monilethrix
Patchy alopecia, Brittle hair, Abnormality of the nail, Cataract, Abnormal eyelash morphology, Fi... ORPHA:573
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Micro... OMIM:251270
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Flexion contracture, Corneal scarring, Bradycardia, Tachycardia OMIM:614653
Microphthalmia, Isolated 6
Microphthalmia, Microcornea, Retinal fold OMIM:613517
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia OMIM:224410
Warburg Micro Syndrome 1
Developmental cataract, Cryptorchidism, Microcornea, Ptosis, Microphthalmia, Hypertrichosis, Opti... OMIM:600118
Cataract, Aberrant Oral Frenula, And Growth Retardation
Upslanted palpebral fissure, Short palpebral fissure, Blepharophimosis, Ptosis, Epicanthus, Curly... OMIM:115645
Microphthalmia, Syndromic 5
Anophthalmia, Cryptorchidism, Microcornea, Cataract, Optic nerve hypoplasia, Microphthalmia, Colo... OMIM:610125
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Refsum Disease, Classic
Retinal degeneration, Arrhythmia, Congestive heart failure, Cataract, Ptosis, Rod-cone dystrophy,... OMIM:266500
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Gaucher Disease Type 2
Recurrent respiratory infections, Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia, Ventricular septal ... ORPHA:85194
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure... ORPHA:36238
Chromosome 6Q24-Q25 Deletion Syndrome
Upslanted palpebral fissure, Right ventricular dilatation, Short palpebral fissure, Hooded eyelid... OMIM:612863
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Abnormal anterior chamber morphology, Multiple central nervous system lipoma... OMIM:613001
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Fragile nails, Alopecia, Keratoconus, Conjunctivitis OMIM:242150
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Erysipelas, Upslanted palpebral fissure, Cellulitis, Retinal detachment, Retinal dysplasia, Ptosi... ORPHA:2526
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Oculodentodigital Dysplasia
Upslanted palpebral fissure, Abnormality of the nail, Brittle hair, Umbilical hernia, Camptodacty... ORPHA:2710
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium morphology, Chro... ORPHA:922
Anophthalmia Plus Syndrome
Anophthalmia, Eyelid coloboma, Bilateral cleft lip and palate, Cleft palate, Blepharophimosis, Ir... ORPHA:1104
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Cat-Eye Syndrome
Chorioretinal coloboma, Anal atresia, Microphthalmia, Downslanted palpebral fissures, Iris coloboma ORPHA:195
Proboscis Lateralis
Optic nerve hypoplasia, Ptosis, Nasolacrimal duct obstruction, Abnormality of the ocular adnexa, ... ORPHA:141099
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract, Hepatomegaly OMIM:607906
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Inflammatory abnormality of the eye, Cata... ORPHA:179
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Glossoptosis, Hepatomegaly, Ventricular septal defect OMIM:614876
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Harlequin Ichthyosis
Erythroderma, Cataract, Sudden cardiac death, Ectropion ORPHA:457
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Corneal opacity, Antecubital pterygium, Microphthalmia, Bilateral cleft lip ... OMIM:619339
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Cataract, Knee flexion contracture, Microphthalmia, Arthrogryposis mul... OMIM:214150
Developmental Delay With Variable Neurologic And Brain Abnormalities
Upslanted palpebral fissure, Sparse lateral eyebrow, Cataract, Astigmatism, Knee flexion contract... OMIM:619694
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short palpebral fissure, Upslanted palpebral fissure, Atrial septal defect, Ptosis, Ventricular s... OMIM:617360
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent skin infections, Erythema nodosum, Coliti... OMIM:300635
Atelosteogenesis, Type Ii
Respiratory insufficiency, Death in infancy, Stillbirth, Pulmonary hypoplasia OMIM:256050
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Microphthalmia, Syndromic 8
Short palpebral fissure, Cryptorchidism, Microcornea, Microphthalmia, Blepharophimosis, Cleft palate OMIM:601349
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections ORPHA:345
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Thick eyebrow, Corneal opacity, Downslanted palpebral fissures, Long palp... OMIM:602562
Naxos Disease
Abnormality of hair texture, Curly hair, Woolly hair, Sparse scalp hair ORPHA:34217
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... ORPHA:3361
Combined Oxidative Phosphorylation Deficiency 33
Astigmatism, Hepatomegaly, Ptosis, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Pili ... ORPHA:2891
Transketolase Deficiency
Uveitis, Patent foramen ovale, Atrial septal defect, Cataract, Hepatomegaly, Abnormal heart morph... ORPHA:488618
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency ORPHA:139406
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Upslanted palpebral fissure, Cryptorchidism, Cataract, Corneal opacity, Optic nerve hypoplasia, H... ORPHA:496790
Dysequilibrium Syndrome
Cataract ORPHA:1766
Congenital Sialidosis Type 2
Cherry red spot of the macula, Developmental cataract, Hepatosplenomegaly, Hypoplasia of the fove... ORPHA:93400
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction... ORPHA:2414
Cockayne Syndrome Type 2
Anophthalmia, Developmental cataract, Uveitis, Flexion contracture, Enamel hypoplasia, Cryptorchi... ORPHA:90322
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Pleural effusion, Cough, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis, Pulmonary hypoplasia OMIM:617468
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow palpebral fissure, Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Mucolipidosis Iv
Retinal degeneration, Achlorhydria, Corneal opacity, Opacification of the corneal stroma, Optic a... OMIM:252650
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Optic atrophy, Absence of subcutaneous fat, Hypertension, Pr... OMIM:610965
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Clouston Syndrome
Small nail, Absent pubic hair, Blepharitis, Brittle hair, Cataract, Sparse eyebrow, Nail dysplasi... OMIM:129500
Pulmonary Hemosiderosis
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Retinal degeneration, Patent foramen ovale, Arrhythmia, Gastroesophageal r... ORPHA:542306
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Frontofacionasal Dysplasia
Absent inner eyelashes, Microcornea, Cataract, Aplasia/Hypoplasia of the eyebrow, Telecanthus, Bl... ORPHA:1791
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Peters anomaly, Microphthalmia, Coloboma, Ventricular... OMIM:618652
Leopard Syndrome 3
Tetralogy of Fallot, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Palpebra... OMIM:613707
Congenital Varicella Syndrome
Microphthalmia, Cataract, Atypical scarring of skin ORPHA:291
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Abdominal pain, Inflammation of the large intestine, Nail dystrophy ORPHA:46487
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Ptosis, Microp... OMIM:615145
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Cleft palate OMIM:244600
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Long eyelashes, Microcornea, Cataract, Microphthalmia, Camptodactyly of finger ORPHA:48431
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Hepatosplenomegaly, Optic atrophy, Cataract, Corneal opacity, Visc... ORPHA:93399
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis, Microphthalmia, Co... ORPHA:324416
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Optic atrophy, Cryptorchidism, Astigmatism, Gastroesophageal reflux, Pete... ORPHA:494344
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal... OMIM:608470
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary ve... ORPHA:199241
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Adams-Oliver Syndrome 2
Small nail, Developmental cataract, Microphthalmia, Low anterior hairline, Narrow palpebral fissu... OMIM:614219
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Achilles tendon contracture, Impaired oropharyngeal swallow response, Corneal scarring, Impaired ... ORPHA:404454
Olmsted Syndrome 1
Pruritus, Flexion contracture, Corneal opacity, Nail dysplasia, Nail dystrophy, Alopecia universa... OMIM:614594
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Epicanthus, Chorioretinal coloboma, Cataract, Cryptorchidism ORPHA:2489
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Cough, Dyspnea, Pulmonary arterial hypertension, Pulmonary v... OMIM:234810
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Naxos Disease
Dilated cardiomyopathy, Cardiomegaly, Woolly hair, Premature ventricular contraction, Abnormal mo... OMIM:601214
Macular Dystrophy, Corneal
Macular dystrophy, Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Ventricul... OMIM:614980
Maternally-Inherited Diabetes And Deafness
Retinopathy, Arrhythmia, Congestive heart failure, Cataract, Hypertrophic cardiomyopathy, Macular... ORPHA:225
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Dyspnea, Downslanted palpebral fissures, Recurrent respiratory infections, R... ORPHA:2759
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Pierpont Syndrome
Cryptorchidism, Microcornea, Microphthalmia, Abnormal subcutaneous fat tissue distribution, High ... ORPHA:487825
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Cataract, Low anterior hairline, Ventricular septal defect OMIM:608227
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short palpebral fissure, Chorioretinal coloboma, Astigmatism, Pulmonic stenosis, Downslanted palp... ORPHA:284169
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Cataract, Hypertrophic car... ORPHA:1345
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Cataract, Hypertrophic cardiomyopathy, Downslanted palpebral fissures, Optic disc... ORPHA:3173
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Cataract, Hepatomegaly, Microphthalmia, Pancre... OMIM:618805
Trichodysplasia-Xeroderma
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Opacification of the corneal stroma, Absent eyelashes, Cryptorchidism, Nail dysplasia, Aganglioni... OMIM:308205
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Intraalveolar phospholipid accumulation, Cra... ORPHA:747
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Weight loss, Gastrointestinal hemorrhage, Gastroesophageal reflux... ORPHA:2198
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Microphthalmia With Linear Skin Defects Syndrome
Abnormal vitreous humor morphology, Abnormality of the nail, Retinal dysplasia, Mitral regurgitat... ORPHA:2556
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia ORPHA:93296
Trichothiodystrophy
Developmental cataract, Brittle hair, Aplasia/Hypoplasia of the nails, Cryptorchidism, Astigmatis... ORPHA:33364
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Fine hair, Microphthalmia, Keratoconjunct... ORPHA:1806
8Q21.11 Microdeletion Syndrome
High palate, Camptodactyly of finger, Sclerocornea, Cryptorchidism, Cataract, Corneal opacity, Pt... ORPHA:284160
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Microphthalmia, Retinal fold, Exudati... ORPHA:209956
Optic Atrophy-Intellectual Disability Syndrome
Upslanted palpebral fissure, Optic nerve hypoplasia, Optic disc hypoplasia, Epicanthus, Keratocon... ORPHA:401777
Leopard Syndrome 2
Downslanted palpebral fissures, Curly hair, Hypertrophic cardiomyopathy, Epicanthus OMIM:611554
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Coloboma, Iris coloboma OMIM:610023
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Cryptorchidism, Ptosis, Highly arched eyebrow, Microphthalmia, Long palpe... OMIM:243310
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Sclerocornea, Cataract, Microphthalmia, Downslanted palpebral fissures... ORPHA:251038
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Tangier Disease
Cicatricial ectropion, Nail dysplasia, Splenomegaly, Hepatomegaly, Myocardial infarction, Nail dy... OMIM:205400
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Brachydactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, Bicuspid aortic valve, Short... OMIM:604381
Alagille Syndrome
Corneal dystrophy, Atrial septal defect, Cryptorchidism, Hepatomegaly, Downslanted palpebral fiss... ORPHA:52
Mulibrey Nanism
Pericardial constriction, Corneal dystrophy, Enamel hypoplasia, Congestive heart failure, Astigma... OMIM:253250
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Ectodermal Dysplasia 4, Hair/Nail Type
Brittle hair, Temporal hypotrichosis, Pili torti, Absent eyelashes, Congenital onychodystrophy, S... OMIM:602032
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Microphthalmia, Arthrogryposis multiplex congenita... ORPHA:1466
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Storm Syndrome
Myxomatous mitral valve degeneration, Aortic valve stenosis, Sparse eyebrow, Mitral stenosis, Ear... OMIM:185069
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Myasthenic Syndrome, Congenital, 19
Recurrent lower respiratory tract infections, Respiratory insufficiency, Ptosis OMIM:616720
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation, Cataract, Nail dysplasia, Splenomegaly, Ptosis,... ORPHA:773
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Rod-cone dystrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Optic... OMIM:204200
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Noonan Syndrome 14
Aortic regurgitation, Lacrimal duct stenosis, Cryptorchidism, Sparse eyebrow, Hypertrophic cardio... OMIM:619745
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive ventilatory defect, Hypo... OMIM:610978
Sandestig-Stefanova Syndrome
High palate, Developmental cataract, Muscular ventricular septal defect, Highly arched eyebrow, S... OMIM:618804
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome