Gene Summary

Name:
BTB (POZ) domain containing 7
Synonyms:
FUP1,  5730507E09Rik,  E130118E17Rik

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
increased lung compliance Btbd7em1(IMPC)Ccpcz HOM   Early adult 1.56×10-06
abnormal seminal vesicle morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal optic disk morphology Btbd7em1(IMPC)Ccpcz HOM   Early adult 4.99×10-06
hydrometra Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
cataract Btbd7em1(IMPC)Ccpcz HOM   Early adult 1.13×10-06
enlarged heart Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal auditory brainstem response Btbd7em1(IMPC)Ccpcz HOM   Early adult 2.65×10-17
enlarged spleen Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
anophthalmia Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal uterus morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Btbd7em1(IMPC)Ccpcz HOM   Early adult 2.83×10-07
increased prepulse inhibition Btbd7em1(IMPC)Ccpcz HOM Early adult 2.76×10-05
abnormal eye morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lean body mass Btbd7em1(IMPC)Ccpcz HOM Early adult 3.97×10-05
abnormal heart morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal retinal vasculature morphology Btbd7em1(IMPC)Ccpcz HOM   Early adult 7.09×10-06
abnormal spleen morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lung elastance Btbd7em1(IMPC)Ccpcz HOM   Early adult 2.40×10-07
abnormal retinal blood vessel morphology Btbd7em1(IMPC)Ccpcz HOM   Early adult 1.02×10-05
abnormal lens morphology Btbd7em1(IMPC)Ccpcz HOM   Early adult 1.54×10-05
microphthalmia Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00
fused cornea and lens Btbd7em1(IMPC)Ccpcz HOM   Early adult 1.88×10-05
abnormal inspiratory capacity Btbd7em1(IMPC)Ccpcz HOM   Early adult 1.19×10-08
enlarged thymus Btbd7em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

Human diseases caused by Btbd7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Btbd7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Hearing impairment, Short thumb, Cataract, Cryptorchidism OMIM:274205
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Salivary Duct Calculi
Abnormality of the mouth, Parotitis OMIM:181010
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy, Anophthalmia, Proximal p... ORPHA:139471
Trisomy 13
Optic atrophy, Ventricular septal defect, Microphthalmia, Abnormal morphology of female internal ... ORPHA:3378
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia, Respiratory insufficiency, Large for gestational age, Corneal opaci... ORPHA:2432
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma OMIM:616428
Gombo Syndrome
Microphthalmia, Abnormal heart morphology, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia, Bicornuate uter... OMIM:615524
2Q24 Microdeletion Syndrome
Toe syndactyly, Central apnea, Microphthalmia, Small for gestational age, Abnormality iris morpho... ORPHA:1617
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma, Bilateral microphthalmos OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy, Cataract, Microco... OMIM:616171
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Micropenis, Cataract, Ec... OMIM:610125
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy, Hearing impairment OMIM:300719
Walker-Warburg Syndrome
Microcornea, Optic atrophy, Abnormality of the optic nerve, Microphthalmia, Retinal dysplasia, An... ORPHA:899
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Truncal obesity, Micropenis, Cataract, Childhood-onset truncal obesity OMIM:610156
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Microphthalmia, Ane... ORPHA:290
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract, Hearing impairment OMIM:165300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism, ... ORPHA:363741
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Microphthalmia, Small for gestational age, Rocker bottom foot, Hearing im... OMIM:610756
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Sensorineural hearing impairm... ORPHA:1466
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Developmental cataract, Microphthalmia,... OMIM:615663
Warburg Micro Syndrome 3
Hypoplastic labia minora, Optic atrophy, Developmental cataract, Shallow anterior chamber, Microp... OMIM:614222
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Respiratory insufficiency due to ... OMIM:617087
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris coloboma, Sens... ORPHA:1473
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Meckel Syndrome
Accessory spleen, Cystic liver disease, Abnormal chorioretinal morphology, Microphthalmia, Asplen... ORPHA:564
Microphthalmia, Isolated 5
Foveoschisis, Microphthalmia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina,... OMIM:611040
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract ORPHA:79281
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, Retina... OMIM:212550
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Hearing impairment, Hypoplasia of the antihelix, Short thumb, Short metac... ORPHA:2489
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy, Vacuolated lymphocytes OMIM:609055
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... ORPHA:891
Warburg Micro Syndrome 1
Optic atrophy, Developmental cataract, Microphthalmia, Failure to thrive, External genital hypopl... OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Retinal dys... OMIM:251270
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Hypogonadism, Cataract, Obesity, Cryptorchi... OMIM:601794
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Optic atrophy, Retinal degeneration, Rhizomelia, Rod-c... OMIM:602271
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Mmep Syndrome
Ventricular septal defect, Microphthalmia, Triphalangeal thumb, Cryptorchidism, Split foot ORPHA:3434
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpig... OMIM:609218
Periventricular Nodular Heterotopia 7
Optic atrophy, Cryptorchidism, 2-3 toe syndactyly, Hearing impairment OMIM:617201
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Peters anomaly, Iris coloboma, Hearing impairment, Brachydactyly, Syndactyly, Col... OMIM:610023
Bardet-Biedl Syndrome 18
Retinal dystrophy, Rod-cone dystrophy, Cataract, Obesity, Brachydactyly OMIM:615995
Pierpont Syndrome
Broad palm, Microphthalmia, Short finger, Failure to thrive, Large fleshy ears, Posteriorly rotat... OMIM:602342
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microphthalmia, Sclerocornea, Anophthalmia, Rhizomelia, Cataract, Coloboma, Microcor... OMIM:615877
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Failure to thrive in infancy, Microphthalmia, ... ORPHA:858
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Macrotia, Anophthalmia OMIM:221950
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Short stature, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Microphthalmia, Isolated 4
Coloboma, Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Refsum Disease
Abnormality of retinal pigmentation, Microphthalmia, Respiratory insufficiency, Hammertoe, Abnorm... ORPHA:773
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microcornea, Microphthalmia, Cataract ORPHA:2528
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea, Microphthalmia OMIM:251505
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy... OMIM:204200
Pierpont Syndrome
Microphthalmia, Small for gestational age, Short finger, Macrotia, Posteriorly rotated ears, Hear... ORPHA:487825
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma, EEG abnormality, Hearing impairment ORPHA:2732
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Ventricular septal defect, Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma... ORPHA:77298
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Respiratory insufficiency... OMIM:601186
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Microphthalmia, Retinal dysplasia, Hypopla... OMIM:310600
Kapur-Toriello Syndrome
Conductive hearing impairment, Ventricular septal defect, Hypoplastic labia majora, Microphthalmi... OMIM:244300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Respiratory insufficiency, Left ventricular hypertrophy, Retinal detachment, Corn... OMIM:613153
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia, Congenital hip dislocation OMIM:164180
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Idiopathic Uveal Effusion Syndrome
Retinal fold, Microphthalmia, Exudative retinal detachment, Abnormal anterior eye segment morphol... ORPHA:209956
Birdshot Chorioretinopathy
Optic disc pallor, Photoreceptor layer loss on macular OCT, Vitreous floaters, Choroidal neovascu... ORPHA:179
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Optic disc pallor, Cataract, EEG abnormality, Broad thumb, Vaginal h... ORPHA:3173
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials, Apnea ORPHA:99852
Cockayne Syndrome Type 1
Optic atrophy, Hepatomegaly, Failure to thrive, Anophthalmia, Macrotia, Absent brainstem auditory... ORPHA:90321
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Postaxial polydactyly, Bone spicule pigmentation of the retin... OMIM:614500
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Microphthalmia, Cardiomegaly, Peters anomaly, Sensorineural hearing im... OMIM:618652
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypospadias, Retinal dysplasia, Hearing impairment, Respiratory failure, ... ORPHA:2556
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... OMIM:206920
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormality of the sublingual g... ORPHA:79493
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Overlapping toe OMIM:618572
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microgastria-Limb Reduction Defects Association
Aganglionic megacolon, Hand oligodactyly, Asplenia, Phocomelia, Failure to thrive, Anophthalmia, ... OMIM:156810
Cataract 9, Multiple Types
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Talipes equinovar... OMIM:601382
Oculofaciocardiodental Syndrome
Broad palm, 2-3 toe syndactyly, Mitral valve prolapse, Microphthalmia, Ectopia lentis, Hammertoe,... ORPHA:2712
Cockayne Syndrome Type 2
Hepatomegaly, Developmental cataract, Anophthalmia, Macrotia, Hearing impairment, Male hypogonadi... ORPHA:90322
Matthew-Wood Syndrome
Microphthalmia, Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Anophtha... ORPHA:2470
Peroxisome Biogenesis Disorder 2A (Zellweger)
Metatarsus adductus, Hepatomegaly, Talipes equinovarus, Failure to thrive, Abnormal heart morphol... OMIM:214110
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Metaphyseal dysplasia, Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Variant Abeta2M Amyloidosis
Chronic kidney disease, Abnormal salivary gland morphology, Intestinal perforation, Abnormality o... ORPHA:314652
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy ORPHA:2572
1Q21.1 Microduplication Syndrome
Hypospadias, Talipes equinovarus, Failure to thrive, Hip dislocation, Hip dysplasia, Tetralogy of... ORPHA:250994
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Bilateral microphthalmos, Cataract, Hearing impairment OMIM:608763
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Microphthalmia, Retinal dysplasia, Coloboma, Ocular anterior segment dysg... ORPHA:324416
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Microphthalmia, Abnormality of epiphysis morphology, Rhizomelia, Bowin... ORPHA:93267
Warburg Micro Syndrome 2
Optic atrophy, Developmental cataract, Hypoplastic labia majora, Microphthalmia, Asymmetry of the... OMIM:614225
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Peroxisome Biogenesis Disorder 5A (Zellweger)
Metatarsus adductus, Hepatomegaly, Talipes equinovarus, Epiphyseal stippling, Failure to thrive, ... OMIM:614866
Meckel Syndrome, Type 8
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly OMIM:613885
Microphthalmia, Syndromic 2
Hypospadias, 2-3 toe syndactyly, Talipes equinovarus, Asymmetry of the ears, Iris coloboma, Septa... OMIM:300166
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Microphthalmia, Syndromic 3
Hypospadias, Ventricular septal defect, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Hyp... OMIM:206900
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormality of the optic nerve, Talipes equinovarus, Aniridia, Ulnar deviation of finger, Anophth... ORPHA:1101
Congenital Fibrinogen Deficiency
Developmental cataract, Hemorrhagic ovarian cyst, Splenic rupture, Microphthalmia, Right ventricu... ORPHA:335
Retinitis Pigmentosa
Conductive hearing impairment, Abnormality of retinal pigmentation, Optic atrophy, Sensorineural ... ORPHA:791
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Large for gestational age OMIM:248110
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Exuda... ORPHA:2788
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Optic atrophy, Coloboma, Microphthalmia OMIM:274270
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism, Motor axonal neuropathy, Cataract, Camptodactyly o... ORPHA:48431
Filippi Syndrome
Optic atrophy, Ventricular septal defect, 2-4 toe syndactyly, Ambiguous genitalia, Cryptorchidism... OMIM:272440
Laurence-Moon Syndrome
Abnormal antitragus morphology, Congenital hepatic fibrosis, Low-set, posteriorly rotated ears, I... ORPHA:2377
Morm Syndrome
Retinal dystrophy, Truncal obesity, Micropenis, Cataract, Retinal atrophy ORPHA:75858
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Hepatomegaly, Cataract, Hypsarrhythmia OMIM:607906
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Failure to thrive, Join... OMIM:214150
Microphthalmia, Isolated 6
Microcornea, Retinal fold, Microphthalmia OMIM:613517
Frontonasal Dysplasia 1
Conductive hearing impairment, Microphthalmia, Joint contracture of the hand, Radial deviation of... OMIM:136760
Ethanolaminosis
Cardiomegaly OMIM:227150
Hurler-Scheie Syndrome
Hepatomegaly, Rhinitis, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Sensorineural h... ORPHA:93476
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Abnormality of the optic disc, Abno... ORPHA:363417
Neuraminidase Deficiency
Hepatomegaly, Cherry red spot of the macula, Epiphyseal stippling, Ascites, Vacuolated lymphocyte... OMIM:256550
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Bardet-Biedl Syndrome 1
Rod-cone dystrophy, Hearing impairment, Foot polydactyly, Micropenis, Syndactyly, Aganglionic meg... OMIM:209900
Holoprosencephaly
Iris coloboma, Hand polydactyly, Anterior hypopituitarism, Cyclopia, Ventricular septal defect, M... ORPHA:2162
Biemond Syndrome Type 2
Hypospadias, Microphthalmia, Hypogonadotropic hypogonadism, Preaxial polydactyly, Hypogonadism, C... ORPHA:141333
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cubitus valgus, Hypogonadism, Cataract, Decreased testicular size ORPHA:1875
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Aplasia/Hypoplasia of the lens, Genu valgum, Tetralogy of Fallot, Cataract, Cryptorc... ORPHA:1381
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Moebius Syndrome
Microphthalmia, Talipes equinovarus, Facial diplegia, Lower limb undergrowth, Hand clenching, Hyp... OMIM:157900
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Failure to thrive, Respiratory distress, Micropenis, Thrombocytopenia, Cryptorchidism OMIM:615597
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Distal Monosomy 17Q
Optic atrophy, Hepatomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the thumb, Low-set,... ORPHA:1597
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Polycystic ovaries, Sensorin... ORPHA:3085
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Sensorineural hearing ... OMIM:616648
Adams-Oliver Syndrome
Finger syndactyly, Portal hypertension, Absent toe, Microphthalmia, Abnormality of the upper limb... ORPHA:974
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Cystoid macular ... OMIM:267760
Hydrolethalus
Microphthalmia, Anophthalmia, Low-set, posteriorly rotated ears, Abnormal fallopian tube morpholo... ORPHA:2189
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cone-shaped epiphysis, Congenital hepatic fibrosis, Retinal ... ORPHA:3156
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Metaphyseal irregularity, Brachydactyly, Coloboma, Short phalanx of finger, Sho... ORPHA:85167
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Optic atrophy, Ventricular septal defect, Chorioretinal coloboma, Microphthalmia, Ab... ORPHA:494344
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular fossae, Campto... OMIM:201000
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Temtamy Syndrome
Genu varum, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Short toe, Clinodactyly of the... ORPHA:1777
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia, Small for gestational age, Angulated antihelix, Rocker bo... OMIM:618804
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Hepatomegaly, Perineal fistula, Truncus arteriosus, Microphthalmia, Ph... ORPHA:2538
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Optic atrophy, Retinal fold, Microphthalmia, Myopic astigmatism, Chorioretinal dyspl... OMIM:152950
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Microphthalmia, Tapered finger, Long fingers, Posteriorly rotated ears, Cryptorchidi... OMIM:616734
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Flexion contracture of toe, EEG with occipital epileptiform discharges, EEG with g... OMIM:619323
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Large earlobe, Toe syndacty... ORPHA:1106
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Microphthalmia, Pancreatitis,... OMIM:618805
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma, Hearing impairment, Hip dysplasia ORPHA:195
Vitreoretinochoroidopathy
Microcornea, Microphthalmia, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitre... OMIM:193220
Martsolf Syndrome 1
Metatarsus adductus, Developmental cataract, Slender ulna, Microphthalmia, Talipes equinovarus, P... OMIM:212720
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Failure to thrive, Splenomegaly, Hearing impairment ORPHA:796
Bresek Syndrome
Aganglionic megacolon, Microphthalmia, Optic nerve hypoplasia, Iris coloboma, Hearing impairment,... ORPHA:85284
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot, Talipes equinovarus OMIM:616570
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Pancreatic hypoplasia, Lymphadenopathy, Hearing impairment, Splenomegaly, Hepatosp... OMIM:602782
Mogs-Cdg
Optic atrophy, Hepatomegaly, Apnea, Absent brainstem auditory responses, Cardiomegaly, External g... ORPHA:79330
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Vacterl With Hydrocephalus
Abnormality of the optic nerve, Microphthalmia, Anophthalmia, Hypoplasia of the radius, Anotia, H... ORPHA:3412
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Cryptorchidism, Split foot OMIM:601349
Congenital Varicella Syndrome
Microphthalmia, Micromelia, Cataract ORPHA:291
Charge Syndrome
Bifid scrotum, Abnormal morphology of female internal genitalia, Overfolded helix, Hearing impair... ORPHA:138
Galactose Epimerase Deficiency
Hepatomegaly, Weight loss, Splenomegaly, Cataract, Jaundice ORPHA:79238
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Ventricular septal defect, Neutropenia, Microphthalmia, Optic nerv... OMIM:609053
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hepatomegaly, Hypsarrhythmia OMIM:300884
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Short 5th metacarpal, Short 4th metacarpal, Anophthalmia, Small scrotum, Posterio... ORPHA:264200
Anophthalmia Plus Syndrome
Anophthalmia, Low-set, posteriorly rotated ears, Iris coloboma, Deviation of finger, Aplasia/Hypo... ORPHA:1104
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Anophthalmia, Prominent ear helix, Hypsarrhythmia, Multifocal epileptiform discharges ORPHA:411986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Pneumonia, Failure to thrive secondary to recurrent infections, Lymphadenopathy, Sp... OMIM:608971
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ir... ORPHA:959
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Cohen Syndrome
Neutropenia, Cubitus valgus, Iris coloboma, Finger syndactyly, Abnormality of retinal pigmentatio... ORPHA:193
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Polycystic ovaries, Splenomegaly, Heterochromia iridis, Abnor... ORPHA:2969
Distal Monosomy 13Q
Optic atrophy, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Iris colobo... ORPHA:1590
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy, EEG abnormality OMIM:614706
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Splenomegaly ORPHA:52416
Retinopathy, Pigmentary, And Mental Retardation
Narrow palm, Arachnodactyly, Truncal obesity, Hypogonadism, Cataract, Pigmentary retinopathy OMIM:268050
Charge Syndrome
Absent tibia, Dysplastic tricuspid valve, Retinal coloboma, Iris coloboma, Lop ear, Micropenis, O... OMIM:214800
Microphthalmia, Lenz Type
Hypospadias, Chorioretinal coloboma, Microphthalmia, Low-set, posteriorly rotated ears, Optic dis... ORPHA:568
Cockayne Syndrome B
Abnormal auditory evoked potentials, Splenomegaly, Micropenis, Opacification of the corneal strom... OMIM:133540
Adams-Oliver Syndrome 2
Optic atrophy, Developmental cataract, Microphthalmia, Protruding ear, Single transverse palmar c... OMIM:614219
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Metaphyseal spurs, Reduced proximal interphalangeal joint space, Abnormal... ORPHA:166011
Hyperlipoproteinemia, Type Id
Failure to thrive, Hepatomegaly, Lipemia retinalis, Splenomegaly OMIM:615947
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Hepatomegaly, Cone-shaped epiphyses of the distal phalanges of the hand, Failure ... OMIM:618958
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor, Tapered finger OMIM:615722
Nance-Horan Syndrome
Protruding ear, Microphthalmia, Retinal detachment, Short metacarpal, Cataract, Microcornea ORPHA:627
Niemann-Pick Disease, Type B
Abnormal macular morphology, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Dyspnea, Sea-blu... OMIM:607616
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Ascites, Thickened cortex of long bones, Cardiomegaly, Co... OMIM:253250
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Ret... OMIM:619260
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Epiphyseal dysplasia, Genu valgum, Brachydactyly, Cataract, Coxa v... OMIM:132450
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly, Hearing impairment, Corneal opacity, Dyspnea, Abnormal macul... ORPHA:87876
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Chorioretinal coloboma, Microphthalmia, Failure to thrive, Overfolded heli... OMIM:243310
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Epiphyseal stippling, Cataract, Jaundice OMIM:614876
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Premature ovarian insufficiency ORPHA:2278
Microphthalmia, Isolated, With Coloboma 7
Coloboma, Microphthalmia OMIM:614497
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of the optic nerve, Microphthalmi... ORPHA:2526
Riboflavin Transporter Deficiency
Progressive hearing impairment, Cachexia, Optic disc pallor, Abnormal cranial nerve morphology, R... ORPHA:97229
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
External genital hypoplasia, Hearing impairment, Cataract, Cryptorchidism, Short toe, Short palm,... OMIM:612947
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Lamb-Shaffer Syndrome
Optic atrophy, Long fingers, Posteriorly rotated ears, Long hallux, Clinodactyly, Overlapping toe OMIM:616803
Congenital Hydrocephalus
Optic atrophy, Abnormal heart morphology, Posteriorly rotated ears, Iris coloboma, Sensorineural ... ORPHA:2185
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Microphthalmia, Cataract OMIM:120433
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split hand, Cataract, Retinopathy, Split foot OMIM:183800
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Galactokinase Deficiency
Nuclear cataract, Hepatomegaly, Small for gestational age, Failure to thrive, Sensorineural heari... ORPHA:79237
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Microphthalmia, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreou... OMIM:305390
Spondylo-Ocular Syndrome
Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Ir... ORPHA:85194
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hypopigmentation of the fundus, Large... OMIM:600501
Kapur-Toriello Syndrome
Hypoplastic labia majora, Ventricular septal defect, Microphthalmia, Retinal coloboma, Failure to... ORPHA:2328
Mend Syndrome
2-3 toe syndactyly, Abnormal auditory evoked potentials, Microphthalmia, Failure to thrive, Long ... ORPHA:401973
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Optic atrophy, Onion bulb formation, Hammertoe, Axonal... OMIM:609260
Zellweger Syndrome
Hypospadias, Optic atrophy, Hepatomegaly, Ventricular septal defect, Respiratory insufficiency, P... ORPHA:912
Cerebrooculonasal Syndrome
Anophthalmia, Macrotia, Low-set, posteriorly rotated ears, Abnormal tragus morphology, Postaxial ... ORPHA:66625
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Optic atrophy, Respiratory failure requiring assisted ventilation, El... OMIM:619303
Mosaic Trisomy 9
Talipes equinovarus, Camptodactyly of finger, Finger clinodactyly, Dextrocardia, Ventricular sept... ORPHA:99776
Refsum Disease, Classic
Retinal degeneration, Cardiomegaly, Cardiomyopathy, Rod-cone dystrophy, Sensorineural hearing imp... OMIM:266500
Cousin Syndrome
2-3 toe syndactyly, Talipes equinovarus, Prominent protruding coccyx, Ambiguous genitalia, female... OMIM:260660
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Peripheral axonal neuropathy, Facial palsy, Absent brainstem auditory responses, Sensorineural he... OMIM:617519
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microphthalmia, Abnormal external genitalia, Abnormal morphology of th... ORPHA:3469
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Septo-optic dysplasia, Iris coloboma, Vaginal atresia, Aplasia/Hyp... ORPHA:3301
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Postaxial polydactyly, Obesity, Pancreatitis, Rod-cone dystrophy, Papilledema... OMIM:619471
Leber Congenital Amaurosis 1
Hepatomegaly, Sensorineural hearing impairment, Cataract, Fundus atrophy, Pigmentary retinopathy,... OMIM:204000
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Iris coloboma, Finger syndactyly, Camptodactyly of... ORPHA:251014
Joubert Syndrome 22
2-3 toe syndactyly, Microphthalmia, Retinal dysplasia, Postaxial foot polydactyly, Postaxial hand... OMIM:615665
Bardet-Biedl Syndrome 9
Retinal degeneration, Polydactyly, Postaxial polydactyly, Obesity, Bone spicule pigmentation of t... OMIM:615986
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Micro Syndrome
Hypoplastic labia minora, Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Ret... ORPHA:2510
Wolfram-Like Syndrome
Optic atrophy, Peripheral axonal neuropathy, Respiratory insufficiency, Congenital sensorineural ... ORPHA:411590
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Farber Lipogranulomatosis
Hepatomegaly, Osteolysis involving bones of the feet, Respiratory insufficiency, Cherry red spot ... OMIM:228000
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Respiratory insufficiency, Splenomegaly ORPHA:139406
Microphthalmia, Syndromic 6
Hypospadias, Short middle phalanx of finger, Bifid scrotum, Hearing impairment, Finger syndactyly... OMIM:607932
Chops Syndrome
Optic atrophy, Chronic lung disease, Hearing impairment, Cataract, Abnormal cardiac septum morpho... OMIM:616368
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Single transverse palmar crease, Noncompaction cardiomyo... OMIM:616651
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Upper limb undergrowth, Hepatomegaly, Failure to thrive, Small hand, Splenomegaly,... OMIM:608799
Curry-Jones Syndrome
Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Optic disc coloboma, Iris coloboma,... ORPHA:1553
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Failure to thrive, Abnormality of epiphysis morphology, Facial palsy... ORPHA:772
Trisomy 1Q
Toe syndactyly, Ventricular septal defect, Anophthalmia, Small scrotum, Arachnodactyly, Ambiguous... ORPHA:261344
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract, Micromelia OMIM:273680
Faciothoracogenital Syndrome
Prominent scrotal raphe, Shawl scrotum, Microphthalmia, Glandular hypospadias OMIM:227320
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Pelvis-Shoulder Dysplasia
Short clavicles, Microphthalmia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dis... OMIM:169550
Congenital Sialidosis Type 2
Optic atrophy, Developmental cataract, Hepatomegaly, Hypoplasia of the fovea, Cherry red spot of ... ORPHA:93400
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Tapered finger, Weight loss, Hearing impairment, Abnormal tes... ORPHA:317
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Adult onset sensorineural hearing impairment, Sensory axonal neuropathy ORPHA:329314
Gracile Bone Dysplasia
Microphthalmia, Asplenia, Ascites, Aniridia, Failure to thrive, Brachydactyly, Micropenis, Slende... OMIM:602361
Stickler Syndrome Type 2
Sensorineural hearing impairment, Abnormal vitreous humor morphology, Retinal detachment, Corneal... ORPHA:90654
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Optic atrophy, Upper limb undergrowth, Proximal femoral metaphyseal ir... ORPHA:168549
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Retinal degeneration, Situs inversus totalis, Thiamine-... OMIM:249270
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Respiratory insufficiency, Epiphyseal stippling, Aplasia/Hypoplasia affecting the ... ORPHA:1914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Cataract OMIM:615181
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Macrotia OMIM:600776
Focal Dermal Hypoplasia
Hypoplastic nipples, Short metatarsal, Midclavicular hypoplasia, Iris coloboma, Foot polydactyly,... OMIM:305600
Cockayne Syndrome A
Abnormal auditory evoked potentials, Thymic hormone decreased, Retinal pigment epithelial mottlin... OMIM:216400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Rieger anomaly, Sensorineural hearing impairment, Hip disloc... OMIM:109120
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Ventricular septal defect, Ventricular septal hypertrophy, Obesity OMIM:614947
Fraser Syndrome 1
Hypospadias, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the thumb, Micropenis, Atresia of... OMIM:219000
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy... OMIM:604393
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology, Abnormal... ORPHA:163649
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Failure to thrive, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Microphthalmia, Respiratory insufficiency due to muscle weakness, Sensorine... OMIM:615249
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Tapered finger, Short finger, Abnormal heart morphology, External genital hypoplasia, ... ORPHA:1867
Fanconi Anemia, Complementation Group G
Neutropenia, Microphthalmia, Leukemia, Anemia, Abnormal thumb morphology, Thrombocytopenia OMIM:614082
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, External genital hypoplasia, Iris coloboma, Hypogonadism, Cataract,... ORPHA:2250
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Hand clenching, Optic atrophy, Cryptorchidism, Rocker bottom foot OMIM:618766
Anterior Segment Dysgenesis 5
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... OMIM:604229
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Ventricular septal defect, Microphthalmia, Polydactyly, Leukemia, Syndactyly OMIM:602501
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Motor axonal neuropathy, Absent brainstem auditory res... ORPHA:1215
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia,... ORPHA:496790
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ventricular septal defect, Microphthalmia, Histiocytoid cardiomyopathy, Sclerocornea... OMIM:309801
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Retinal detachment, Cataract, Delayed ossification of ... OMIM:127200
Microphthalmia, Syndromic 13
Coloboma, Microcornea, Microphthalmia, Abnormality of the pinna OMIM:300915
Ritscher-Schinzel Syndrome 3
Chorioretinal coloboma, Microphthalmia, Epiphyseal stippling, Atrioventricular canal defect, Shor... OMIM:619135
Congenital Primary Aphakia
Microphthalmia, Retinal dysplasia, Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting... ORPHA:83461
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory axonal neuro... ORPHA:457205
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Low-set, posteriorly rotated ears, Hypoplastic left heart, Ambiguous g... ORPHA:2772
Marinesco-Sjögren Syndrome
Optic atrophy, Metatarsus valgus, Avascular necrosis of the capital femoral epiphysis, External g... ORPHA:559
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Optic atrophy, Ventricular septal defect, Failure to thrive, Apnea, ... ORPHA:255241
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Cherubism
Optic atrophy, Obstructive sleep apnea, Upper airway obstruction ORPHA:184
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Optic atrophy, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618228
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Delayed pubic bone ossificati... ORPHA:93296
Martsolf Syndrome 2
Developmental cataract, Hypogonadotropic hypogonadism, Macrotia, Cataract, Camptodactyly of finge... OMIM:619420
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Broad hallux phalanx, Hepatomegaly, Splenomeg... ORPHA:585
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Palmoplantar keratoderma, Rod-cone dystrophy, Microcytic an... ORPHA:324737
Jacobsen Syndrome
Hypospadias, Optic atrophy, Ventricular septal defect, Chorioretinal coloboma, Microphthalmia, An... OMIM:147791
Triple A Syndrome
Optic atrophy, Abnormality of the hypothenar eminence, Respiratory insufficiency, Palmoplantar ke... ORPHA:869
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Cardiomyopathy, Respiratory distress, Hepatic steatosis ORPHA:26792
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Failure to thrive, Vacuolated lymphocytes, Metaphyseal irregularity, Cardi... OMIM:269920
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc, Hearing impairment, Cataract,... ORPHA:65
Spondyloocular Syndrome
Unilateral cryptorchidism, Mitral valve prolapse, Long fingers, Posteriorly rotated ears, Sensori... OMIM:605822
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Hypoplasia of the thymus, Splenomegaly, Hearing impairment, Erythroid hypoplasia, Re... OMIM:612541
Melioidosis
Lung abscess, Pneumonia, Abnormal parotid gland morphology, Parotitis, Respiratory tract infectio... ORPHA:31202
Mosaic Trisomy 1
Deviation of the 5th toe, Hepatic agenesis, Broad toe, Complete duplication of thumb phalanx, Mic... ORPHA:1692
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Microphthalmia, Small scrotum, Low-set, posteriorly rotated ears, Abnormality of the... ORPHA:2505
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Short iliac bones, Metaphyseal widening, Rhizomelia, Acetabular spurs, Short foot, ... OMIM:614376
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Cyclopia, Anterior hypopituitarism, Coloboma, Decreased response to... OMIM:147250
Oculoauricular Syndrome
Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Iris coloboma, Macular hypoplasia, P... OMIM:612109
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Cardiomyopathy... ORPHA:79312
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Respiratory insufficiency, Ascites, Anemia, Sandal gap, Splenomegaly, Hypoplasia of ... ORPHA:1046
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Absent tibia, Bifid scrotum, Talipes equinovarus, Short metatarsal, Overfolded helix... OMIM:609945
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Optic atrophy, EEG abnormality, Retinopathy OMIM:610951
Duane-Radial Ray Syndrome
Triphalangeal thumb, Retinal coloboma, Hypoplasia of the radius, Iris coloboma, Syndactyly, Short... OMIM:607323
Immunodeficiency 52
Bronchiectasis, Failure to thrive, Increased proportion of gamma-delta T cells, Coombs-positive h... OMIM:617514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Respiratory insufficiency, Low-set, posteriorly rotated ears, Synostosis of carpa... ORPHA:3191
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, R... ORPHA:231736
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Shoulder flexion contracture, Adducted thumb, Small for gest... OMIM:193700
Mend Syndrome
2-3 toe syndactyly, Polydactyly, Long fingers, Overlapping fingers, Cataract, Cryptorchidism, Aor... OMIM:300960
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Joubert Syndrome 37
Hepatomegaly, Microphthalmia, Postaxial polydactyly, Posteriorly rotated ears, Micropenis, Obesit... OMIM:619185
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Ambiguous genitalia, Catarac... ORPHA:893
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Xerostomia, Abnormal pancreas morphology, Abnormality of the ... ORPHA:449432
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Sensorineural hearing impairment, Left ventricular hy... OMIM:617713
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Ascites, Azoospermia, Hypogonadotropi... OMIM:235200
Papillorenal Syndrome
Microphthalmia, Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc co... OMIM:120330
Sclerosteosis
Optic atrophy, Diaphyseal thickening, Facial palsy, Finger syndactyly, Sensorineural hearing impa... ORPHA:3152
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Abnormal auditory evoked potentials, Axonal loss, Talipes cavus equinovarus... OMIM:601455
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, 3-4 toe syndactyly, Sandal gap, Brachydactyly, Cataract, Broad hal... OMIM:618727
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Cardiomyopath... ORPHA:370959
Retinal Venous Beading
Neutropenia, Retinal infarction, Hearing impairment, Retinal neovascularization, Vitreous hemorrh... OMIM:180080
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microphthalmia, Leukopenia, Pneumonia, Failure to thrive, Decrease... OMIM:603467
Pelvis-Shoulder Dysplasia
Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Absent proximal finger flexio... ORPHA:2839
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Cardiomyopathy, Hearing impairment, Iris hypopigmentation, Cataract, Thrombocy... ORPHA:67048
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor, Respiratory failure requiring assisted ventilation, Hypsarrhythmia OMIM:618776
Townes-Brocks Syndrome
Hypospadias, Broad hallux phalanx, Triphalangeal thumb, Bifid scrotum, Overfolded helix, Hearing ... ORPHA:857
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Weight loss, Cough, Splenomegaly, Dyspnea ORPHA:98293
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Hepatomegaly, Rod-cone dystrophy, Diffuse hepatic steatosis, Bilateral sensorineur... OMIM:264470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Neonatal respiratory distress, Abnormal heart morphology, Double outlet right vent... OMIM:618164
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia, Cataract, EEG abnormality, Camptodactyl... ORPHA:272
Stromme Syndrome
Microphthalmia, Sclerocornea, Optic nerve hypoplasia, Peters anomaly, Iris coloboma, Preaxial pol... OMIM:243605
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Microcephalic Primordial Dwarfism, Toriello Type
Short middle phalanx of finger, Neutropenia, Radial deviation of finger, Short foot, Short proxim... OMIM:251190
Proboscis Lateralis
Ventricular septal defect, Chorioretinal coloboma, Microphthalmia, Anophthalmia, Optic nerve hypo... ORPHA:141099
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Trisomy 18
Abnormality of retinal pigmentation, Cachexia, Ventricular septal defect, Microphthalmia, Abnorma... ORPHA:3380
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macrotia, Hearing impairment, Multifocal ep... ORPHA:369891
Triploidy
Hypospadias, Hepatomegaly, Abnormality of the gallbladder, Low-set, posteriorly rotated ears, Fin... ORPHA:3376
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Ventricular hypertrophy, Pulmonary arterial hypertension, Posteriorly rotated ... OMIM:300887
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Abnormality of epiphysis morphology, Epiphyseal dysplasia, Genu valgum, Sensor... ORPHA:250984
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Congenital stationary night blindness, Congenital sensorineural hear... ORPHA:293967
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... OMIM:616394
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Prelingual sensorineural hearing impairment, Optic disc pallor, Drusen OMIM:618632
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Azoospermia, Broad finger, Short phalanx of finger, Small hand, Cataract,... OMIM:300845
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Failure to thrive, Facial palsy, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bicuspid aortic valve, Simple ear, Unilateral microphthalmos, Coloboma, Bilatera... OMIM:619318
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Failure to thrive, Retinal dystrophy, Sensorineural hearing impairment, Cataract OMIM:614877
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Developmental cataract, 2-3 toe syndactyly, Single transverse palmar crease, Adducte... ORPHA:464738
Steinfeld Syndrome
Microphthalmia, Retinal coloboma, Aplasia/Hypoplasia of the thumb, Phocomelia, Abnormal heart mor... OMIM:184705
Diencephalic Syndrome
Optic atrophy, Cachexia, Long penis, Large hands, Macrotia, Decreased body weight ORPHA:1672
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Low-set, posteriorly rotated ears, Sensorineu... ORPHA:44
8Q21.11 Microdeletion Syndrome
Microphthalmia, Sclerocornea, Hearing impairment, Finger syndactyly, Corneal opacity, Cataract, I... ORPHA:284160
Gm1 Gangliosidosis
Retinopathy of prematurity, Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Ventricula... ORPHA:354
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia, Cataract, Hearing impairment ORPHA:3137
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Microphthalmia, Sclerocornea, Aniridia, Iris coloboma,... ORPHA:251038
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Sensorineural hearing impairm... OMIM:610651
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Sclerocornea, Macrotia, Iris coloboma, Retinal detachment, Microcornea, Ocular an... OMIM:615145
Neuroectodermal Melanolysosomal Disease
Aplasia/Hypoplasia of the macula, Optic atrophy, Macular dystrophy, Abnormality of the optic nerve ORPHA:33445
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Abnorm... OMIM:252650
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Short distal phalanx of finger, Brachydactyly ORPHA:2787
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Respiratory insufficiency, Reduced vital capacity OMIM:618654
Cednik Syndrome
Optic atrophy, Macrotia, Sensorineural hearing impairment, Hypogonadism, Abnormality of periphera... ORPHA:66631
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Carey-Fineman-Ziter Syndrome
Respiratory insufficiency, Talipes equinovarus, Tapered finger, Failure to thrive, Facial palsy, ... OMIM:254940
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Failure to thrive, Hearing impairment, Multifocal epileptiform discharges, Hyporef... OMIM:609056
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Peters anomaly, Optic disc colobom... OMIM:120200
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Macrotia, Clinodactyly OMIM:300928
Stickler Syndrome Type 1
Mitral valve prolapse, Abnormality of epiphysis morphology, Sensorineural hearing impairment, Abn... ORPHA:90653
Fanconi Anemia
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Aplasia... ORPHA:84
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Cherry red spot of the macula, Abnormal heart morphology, Hearing im... ORPHA:93399
Phace Association
Optic atrophy, Developmental cataract, Ventricular septal defect, Microphthalmia, Lingual thyroid... OMIM:606519
Anencephaly 2
Anophthalmia OMIM:619452
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Microphthalmia, Talipes equinovarus, Failure to thrive, Iri... ORPHA:250989
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy, Premature ovarian insufficiency OMIM:619425
Gm1-Gangliosidosis, Type Ii
Coxa valga, Optic atrophy, Sea-blue histiocytosis OMIM:230600
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Optic atrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Respiratory ins... OMIM:614299
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Branchiooculofacial Syndrome
Hypospadias, Retinal coloboma, Overfolded helix, Proximal placement of thumb, Hearing impairment,... OMIM:113620
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,... OMIM:609033
Stevenson-Carey Syndrome
Microphthalmia, Joint contracture of the hand, Posteriorly rotated ears, Central hypoventilation,... OMIM:611961
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Optic disc pallor, Cone dystrophy OMIM:268040
Otodental Syndrome
Lens coloboma, Microphthalmia, Retinal coloboma, Iris coloboma, Cataract, High-frequency sensorin... ORPHA:2791
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Optic atrophy, Microvesicular hepatic steatosis, Hypospadias, Noncompacti... OMIM:610198
Stickler Syndrome, Type Ii
Long fingers, Arachnodactyly, Sensorineural hearing impairment, Abnormal vitreous humor morpholog... OMIM:604841
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Respiratory insufficiency, Tapered f... OMIM:608836
Zika Virus Disease
Macular atrophy, Transient hearing impairment, Wrist swelling, Lens subluxation, Optic disc hypop... ORPHA:448237
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Alpha-Mannosidosis
Hepatomegaly, Bowing of the long bones, Hypoplastic inferior ilia, Macrotia, Hearing impairment, ... ORPHA:61
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Macrotia OMIM:300886
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Small for gestational age, Hearing impairment, Resp... OMIM:619057
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Cataract, Splenomegaly ORPHA:29
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Macrotia, Small hand, Retinal detachment, Short foot, Cataract, Asthma, Remnants ... ORPHA:2714
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... ORPHA:91495
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma, Abnormal heart morphology, Cataract, Astigmatism, Protruding ea... OMIM:618571
Mucopolysaccharidosis Type 1
Sinusitis, Optic atrophy, Hypertrophic cardiomyopathy, Abnormality of epiphysis morphology, Abnor... ORPHA:579
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Retinal coloboma, Abn... ORPHA:508498
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Cataract... ORPHA:2725
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Microphthalmia, Overfolded helix, Small hand, Antecubital pterygium, Corneal... OMIM:619339
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Lens coloboma, Microphthalmia, Sandal gap, Pulmonic stenosis, Joint contractu... OMIM:618914
Al Amyloidosis
Abnormal salivary gland morphology, Nephrotic syndrome, Macroglossia, Xerostomia, Albuminuria, Ab... ORPHA:85443
Stt3B-Cdg
Optic atrophy, Failure to thrive, Small scrotum, Respiratory distress, Micropenis, Thrombocytopen... ORPHA:370924
Cri-Du-Chat Syndrome
Hypospadias, Optic atrophy, Metatarsus adductus, Abnormal respiratory system physiology, Small fo... OMIM:123450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Retinal degeneration, Hepatic fibrosis, Splenomegaly, Ge... OMIM:615630
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Hypoplasia of the femoral head, Pne... OMIM:209950
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia, Bilateral microphthalmos, Corneal opacity, Cataract, Colo... ORPHA:2399
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Low-set, posteriorly rotated ears, Septo-optic dysplasia ORPHA:1528
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Optic atrophy, Microphthalmia, Respiratory insufficiency, Retinal dysplas... OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Buphthalmos, Coloboma, Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, ... OMIM:236670
19Q13.11 Microdeletion Syndrome
Hypospadias, Toe syndactyly, Cachexia, Ventricular septal defect, Bifid scrotum, Failure to thriv... ORPHA:217346
Mucopolysaccharidosis Type 3
Rod-cone dystrophy, Hearing impairment, Splenomegaly, Opacification of the corneal stroma, Conduc... ORPHA:581
Gaucher Disease Type 2
Hepatomegaly, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distress ORPHA:77260
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Ventricular septal defect, Microphthalmia, Failure to thrive, Congen... ORPHA:137675
Cohen Syndrome
Optic atrophy, Chorioretinal dystrophy, Neutropenia, Mitral valve prolapse, Small for gestational... OMIM:216550
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Cach Syndrome
Optic atrophy, Pancreatitis, Optic neuritis, Hepatosplenomegaly, Cataract, Premature ovarian insu... ORPHA:135
Chromosome 1Q41-Q