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Gene: Rab39b MGI:1915040

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Gene Summary

Name:
RAB39B, member RAS oncogene family
Synonyms:
6330580M05Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
corneal opacity Rab39bem1(IMPC)Tcp HOM Late adult 6.80×10-11
abnormal auditory brainstem response Rab39bem1(IMPC)Tcp HOM Early adult 9.30×10-05
tremors Rab39bem1(IMPC)Tcp HOM Late adult 9.23×10-07
abnormal liver morphology Rab39bem1(IMPC)Tcp HOM Late adult 0.00
abnormal stomach morphology Rab39bem1(IMPC)Tcp HEM Late adult 0.00
corneal opacity Rab39bem1(IMPC)Tcp HEM Late adult 2.13×10-07
abnormal cornea morphology Rab39bem1(IMPC)Tcp HOM Late adult 2.03×10-11
decreased heart weight Rab39bem1(IMPC)Tcp HEM Late adult 2.17×10-05
small ovary Rab39bem1(IMPC)Tcp HOM Late adult 0.00
hydrometra Rab39bem1(IMPC)Tcp HOM Late adult 0.00
abnormal lens morphology Rab39bem1(IMPC)Tcp HEM Late adult 7.20×10-07
cataract Rab39bem1(IMPC)Tcp HEM Late adult 1.40×10-08
abnormal skin morphology Rab39bem1(IMPC)Tcp HEM Early adult 0.00
abnormal freezing behavior Rab39bem1(IMPC)Tcp HOM Early adult 1.88×10-06
increased circulating aspartate transaminase level Rab39bem1(IMPC)Tcp HOM Early adult 6.99×10-05
decreased spleen weight Rab39bem1(IMPC)Tcp HEM Late adult 1.47×10-05
abnormal cornea morphology Rab39bem1(IMPC)Tcp HEM Late adult 1.07×10-08
abnormal lens morphology Rab39bem1(IMPC)Tcp HOM Late adult 6.49×10-12
enlarged urinary bladder Rab39bem1(IMPC)Tcp HEM Late adult 0.00
cataract Rab39bem1(IMPC)Tcp HOM Late adult 2.43×10-12

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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.

Eye Morphology

Images Ophthalmoscopy

176 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

24 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

9 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Rab39b 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 Rab39b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... OMIM:311510
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Early-Onset Parkinsonism-Intellectual Disability Syndrome
Rigidity, Cogwheel rigidity ORPHA:2379

The table below shows human diseases predicted to be associated to Rab39b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Paraparesis And Deafness
Tremor, Cataract, Hypogonadism, Spastic paraparesis OMIM:312910
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy, Ataxia, Progressive cerebellar ataxia, Upper motor neuron dys... ORPHA:3177
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity, Median cleft palate ORPHA:2432
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Hemiplegia/hemiparesis, Hypogonadism, Spastic paraparesis ORPHA:2815
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Corneal opacity ORPHA:1980
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract, Abnormality of extrapyramidal motor function OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Dermoids Of Cornea
Corneal opacity OMIM:304730
Dysequilibrium Syndrome
Cerebral palsy, Cataract, Ataxia ORPHA:1766
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Cataract, Hand tremor, Spastic dysarthria, Progressive spastic paraplegia ORPHA:401830
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 42
Cataract, Developmental cataract OMIM:115900
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Abnormality of the liver, ... OMIM:614307
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Winchester Syndrome
Corneal opacity OMIM:277950
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Cataract 11, Multiple Types
Hypertonia, Chorea, Cataract, Developmental cataract OMIM:610623
Morquio Syndrome C
Corneal opacity OMIM:252300
Chorea, Remitting, With Nystagmus And Cataract
Chorea, Cataract OMIM:601372
Stickler Syndrome Type 2
Cataract, Corneal opacity, Cleft palate ORPHA:90654
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Bilateral cleft lip and palate, Hematuria, Posterior embryotoxon, Iris... ORPHA:1473
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior ORPHA:208441
Mucolipidosis Type Iii
Abnormal heart valve morphology, Corneal opacity, Cleft palate, Abnormal aortic valve morphology ORPHA:577
Galactosemia Ii
Cataract, Galactosuria, Prolonged neonatal jaundice OMIM:230200
Mucolipidosis Iv
Corneal opacity, Babinski sign, Spastic tetraplegia, Hypergastrinemia, Opacification of the corne... OMIM:252650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Abnormality of the tonsils, Splen... ORPHA:93476
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia ORPHA:1532
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract, Hypogonadism, Progressive spasticity ORPHA:2528
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Hypospadias, Dilated cardiomyopathy, Developmental cataract, Micropenis, Hypertr... OMIM:618815
Trichomegaly
Cataract OMIM:190330
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Cataract, Ventricular septal defect, Jaundice, Glossoptosis OMIM:614876
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Astigmatism, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spast... OMIM:617284
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Corneal opacity ORPHA:2370
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Thrombocytopenia, Splenomegal... ORPHA:290
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Cataract, Ataxia OMIM:278780
Leukoencephalopathy With Vanishing White Matter 2
Spasticity, Cataract, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Ataxia, Tremor, Splenomegaly ORPHA:87876
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... ORPHA:1643
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Cataract, Babinski sign, Spastic paraplegia, Hand tremor, Ankle clonus, Up... OMIM:614409
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Abnormal stomach morphology, Acu... ORPHA:281090
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Erythrokeratodermia Variabilis
Diabetes mellitus, Cataract, Corneal opacity, Abnormal testis morphology ORPHA:317
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Developmental cataract ORPHA:1368
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... OMIM:194072
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
4H Leukodystrophy
Cataract, Ataxia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation... ORPHA:289494
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria ORPHA:79238
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Harel-Yoon Syndrome
Corneal opacity, Ataxia, Developmental cataract, Dystonia, Spasticity OMIM:617183
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... ORPHA:3077
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity OMIM:615768
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Cataract, Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic dysarthr... ORPHA:320391
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Spasticity, Cataract, Micropenis OMIM:610156
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Alpha-Mannosidosis
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Narrow palate, Macroglossia ORPHA:61
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Cryptorchidism, Gait ataxia, Delayed puberty, Spasticity, Spastic gait ORPHA:496790
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... ORPHA:2410
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebellar ataxia associate... OMIM:224050
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Ataxia, Hypogonadotropic hypogonadism, Abnormal pyramidal sign, Dysmetria, Microcornea,... ORPHA:48431
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism, Secondar... ORPHA:79239
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity OMIM:615924
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Tetralogy of Fallot, ... ORPHA:1381
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Spastic diplegia, Developmental cataract OMIM:619420
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Sialidosis Type 1
Cataract, Corneal opacity, Ataxia, Tremor, Splenomegaly, Slurred speech, Myoclonus ORPHA:812
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Hepatosplenomegaly, Abnormal heart mo... ORPHA:93399
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Ataxia, Congenital hepatic fibrosis, Cryptorchidism, Type II diabe... ORPHA:2377
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism OMIM:619647
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Cataract, Ataxia, Clonus, Rigidity, Babinski sign, Limb tremor, Dysmetria,... OMIM:614877
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Slurred speech, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Ankle clonu... ORPHA:284289
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size ORPHA:1867
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Rigidity, Anisocoria, Pseudoexfoliation, Pigment deposition i... OMIM:177650
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Cataract, Postural tremor, Babinski sign, Spastic paraplegia, Upper limb s... OMIM:270800
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Cataract, Corneal opacity OMIM:613153
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Corneal opacity,... ORPHA:912
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Senior-Loken Syndrome
Congenital hepatic fibrosis, Cataract, Ataxia, Premature ovarian insufficiency ORPHA:3156
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Ichthyosis, X-Linked
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism OMIM:308100
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Cataract, Premature ovarian insufficiency, Babinski sign, Pseudobulbar par... ORPHA:101006
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria, Macroglossia, Re... ORPHA:309288
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Cleft palate OMIM:120433
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
46,Xx Gonadal Dysgenesis
Streak ovary, Ataxia, Premature ovarian insufficiency, Increased circulating gonadotropin level, ... ORPHA:243
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Scheie Syndrome
Aortic valve stenosis, Corneal opacity OMIM:607016
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Hepat... OMIM:616719
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Corneal opacity, Stage 5 chronic kidney disease, Proteinuria OMIM:166300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism OMIM:152950
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Sjogren-Larsson Syndrome
Spasticity, Astigmatism, Opacification of the corneal epithelium, Spastic paraparesis OMIM:270200
3-Methylglutaconic Aciduria Type 4
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Dysfunction of lateral corticospinal tr... ORPHA:893
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Congenital Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Ataxia, Dysmetria, Hepatosplenomegaly, Developmental cat... ORPHA:93400
Gm1-Gangliosidosis, Type Iii
Slurred speech, Ataxia, Opacification of the corneal stroma, Dystonia OMIM:230650
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Tremor, Cholestatic liver ... ORPHA:79095
Lowry-Maclean Syndrome
Corneal opacity, Hypospadias, Abnormality of the abdominal organs, Developmental glaucoma, High, ... ORPHA:2409
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Usher Syndrome Type 3
Cataract, Ataxia, Astigmatism, Iris hypopigmentation ORPHA:231183
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Cataract, Malabsorption, Splenomegaly, Furrowed tongue, Hamar... ORPHA:2930
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Isosexual precocious puberty ORPHA:2788
Fucosidosis
Hepatomegaly, Corneal opacity, Abnormality of the gallbladder, Abnormal pyramidal sign, Spastic t... ORPHA:349
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Scheie Syndrome
Hepatomegaly, Cerebral palsy, Corneal opacity, Splenomegaly, Spastic paraparesis ORPHA:93474
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... OMIM:617145
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Bilateral cleft lip and palate, Popliteal pterygium, Axil... OMIM:619339
Lcat Deficiency
Hemolytic anemia, Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disea... ORPHA:650
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm ORPHA:523
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Autosomal Recessive Cutis Laxa Type 2A
Corneal opacity, Ataxia, Slurred speech, Athetosis, Abnormal cornea morphology, Dystonia, Spasticity ORPHA:357058
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Cataract, Impotence, Cirrhosis, Hepatic steatosis OMIM:606069
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Recessive X-Linked Ichthyosis
Cryptorchidism, Opacification of the corneal stroma ORPHA:461
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Babinski sign, Dysmetria, Spasticity, Subcapsular cataract, Intention tremor OMIM:612674
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Spasticity, Cataract, Cryptorchidism OMIM:613730
Cystinosis
Renal insufficiency, Corneal opacity, Proteinuria, Portal hypertension, Malabsorption, Renal tubu... ORPHA:213
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ataxia, Cryptorchidism, Ocular albinism, Abnormal pyramidal sign, Spas... ORPHA:2719
Stromme Syndrome
Accessory spleen, Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Bilateral rena... OMIM:243605
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Corneal opacity, Hypospadias, Megarectum, Micropenis, Le... OMIM:301056
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Galactokinase Deficiency
Speech apraxia, Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Premature ovarian insuffi... ORPHA:79237
Joubert Syndrome 9
Oculomotor apraxia, Cataract, Hepatic fibrosis, Astigmatism OMIM:612285
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis ORPHA:66633
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Cryptorchidism, Microcornea, Abnormality of the hypothalamus-pituitary ax... ORPHA:139471
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia ORPHA:363741
Galactosemia I
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotrans... OMIM:230400
Brachyolmia Type 1, Toledo Type
Increased urinary disaccharide excretion, Opacification of the corneal stroma OMIM:271630
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... ORPHA:100924
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Multiple Sulfatase Deficiency
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Mucopolysacchariduria ORPHA:585
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom... OMIM:215250
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Fryns Syndrome
Multicystic kidney dysplasia, Corneal opacity, Aganglionic megacolon, Intestinal malrotation, Hyp... ORPHA:2059
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Corneal opacity, Dextrocardia, Abnormal heart val... ORPHA:99776
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Hyperinsulinemia,... ORPHA:363400
Short Syndrome
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Hypoplasia ... ORPHA:3163
Bartsocas-Papas Syndrome
Ambiguous genitalia, Popliteal pterygium, Corneal opacity, Hypoplastic male external genitalia ORPHA:1234
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Weill-Marchesani Syndrome
Cataract, Ventricular septal defect, Ectopia lentis, Pulmonic stenosis, Aortic valve stenosis ORPHA:3449
Neuraminidase Deficiency
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro... OMIM:256550
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Aniridia, Hypoplastic female external genit... OMIM:612469
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Sclerocornea, Esophageal atresia, Tr... ORPHA:77298
Gm1 Gangliosidosis
Generalized dystonia, Corneal opacity, Ataxia, Tremor, Splenomegaly, Hepatosplenomegaly, Abnormal... ORPHA:354
Stiff Skin Syndrome
Gastroesophageal reflux, Cataract, Bicuspid aortic valve OMIM:184900
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Congenital Tufting Enteropathy
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... ORPHA:92050
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity OMIM:616586
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocy... ORPHA:1830
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis ORPHA:1064
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism OMIM:601794
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, Hemat... ORPHA:1839
3Q29 Microduplication Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Cleft palate, Ectopic anus, High palate, Aniri... ORPHA:251038
Farber Disease
Elevated hepatic transaminase, Corneal opacity, Intrahepatic cholestasis with episodic jaundice, ... ORPHA:333
Oculomaxillofacial Dysostosis
Corneal opacity, Cleft palate ORPHA:1794
Hurler Syndrome
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Enlarged tonsils... OMIM:607014
Mucolipidosis Type Iv
Corneal opacity, Ataxia ORPHA:578
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate... OMIM:607015
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis OMIM:618805
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundice, High palate, Opacification o... OMIM:251290
Walker-Warburg Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Submucous cleft hard palate, Cleft palate, Microc... ORPHA:899
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Iris hypopigmentation ORPHA:284160
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis ORPHA:110
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Cataract, Tremor, Cryptorchidism, Jaundice, Hypertonia OMIM:608093
Oculocerebrocutaneous Syndrome
Hemiplegia/hemiparesis, Corneal opacity, Iris coloboma, Cryptorchidism ORPHA:1647
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus OMIM:619780
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Ataxia, Splenomegaly, Spasticity OMIM:272200
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Corneal opacity, Proteinuria ORPHA:1765
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign, Dysmetria, Dystoni... OMIM:607694
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Hypospadias, Cleft palate, A... OMIM:309801
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal pericardium morphology, Abnormal stomach morphology, Dys... ORPHA:2357
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Corneal opacity, Abnormality of the tonsils, Malabsorption, Sple... ORPHA:579
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy OMIM:616881
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Cleft palate... OMIM:214110
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hypospadias, Abnormal heart morphology, Microcornea, Opacification of the corneal ... OMIM:601499
Classic Phenylketonuria
Cataract, Tremor, Paraplegia, Hypertonia, Hemiplegia ORPHA:79254
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Cataract OMIM:615184
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Opacification of the corneal stroma, Splenomegaly OMIM:205400
Cadds
Elevated hepatic transaminase, Cataract, Cholangitis, Adrenal hypoplasia, Cholestasis, Dystonia ORPHA:369942
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Galactosialidosis
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... OMIM:613280
Wilson Disease
Acute hepatic failure, Hepatocellular carcinoma, Tremor, Hand tremor, Limb dystonia, Hepatic stea... OMIM:277900
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switc... OMIM:614878
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... ORPHA:381
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia ORPHA:411777
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Cataract, Hypergonadotropic hypogonadism, Parkinsonism, Premature ovarian insuffi... OMIM:157640
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Cryptorchidism, Astigmatism, Congenital... ORPHA:2323
Hypoparathyroidism, Familial Isolated, 1
Chvostek sign, Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level OMIM:146200
Tangier Disease
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen... ORPHA:31150
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Cataract, Hypothyroidism, Abnormal pyramidal sign, Spasticity, Opi... ORPHA:445038
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Tetralogy of Fallot, High palate, Axenfeld anomaly, Opacification of t... OMIM:612582
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Unilateral renal agenesis, Developmental cataract OMIM:616603
Mucopolysaccharidosis Type 7
Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatitis ORPHA:584
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... OMIM:231005
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Dystonia-Deafness Syndrome 1
Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis OMIM:607371
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Resting tremor, Cataract, Hoffmann sign, Babinski sign, Spastic paraplegia... OMIM:601162
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Mucopolysaccharidosis Type 3
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Adenoiditis, Splenomegaly, Malabsorption, ... ORPHA:581
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Proximal Myotonic Myopathy
Cataract ORPHA:606
Familial Dysautonomia
Abnormal peritoneum morphology, Renal insufficiency, Corneal opacity, Abnormal pupil morphology, ... ORPHA:1764
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Abnormality of the tonsils, Splen... ORPHA:93473
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Fabry Disease
Conjunctival telangiectasia, Abnormal endocardium morphology, Renal insufficiency, Cataract, Corn... ORPHA:324
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Wolfram Syndrome 1
Cataract, Ataxia, Diabetes mellitus, Diabetes insipidus, Tremor, Hypothyroidism, Testicular atrophy OMIM:222300
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Corneal opacity, Involuntary movements, Chorea, Dysm... OMIM:615273
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Multicystic kidney dysplasia, Cataract, Corneal opacity, Cleft palate, Acut... ORPHA:1052
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Heparan sulfate excretion in urin... OMIM:253220
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Cataract, Tremor, Cryptorchidism, Fasciculations, Limb hypertonia OMIM:620327
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae OMIM:615877
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
3-Methylglutaconic Aciduria, Type Viib
Cataract, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Zonular cataract, Hyperkinetic movements... OMIM:616271
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Corneal opacity, Opacification of the corneal stroma, Chondroitin sulfate excretion... OMIM:253010
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Cataract, Esophageal stricture, Corneal scarring, Abnormal es... OMIM:226600
Brittle Cornea Syndrome 1
Keratoconus, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Decreased corneal t... OMIM:229200
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Corneal opacity, Peters anomaly OMIM:120200
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Corneal opacity, Ventricular septal defect, Ectopia lentis, Horsesh... ORPHA:2092
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Splenomegaly, Macroglossia, Mucopolysacchariduria, Opacification... ORPHA:583
Al-Gazali Syndrome
Corneal opacity, Hydronephrosis, Sclerocornea OMIM:609465
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Sclerocornea, Hypoplasia of the iris, Subvalvula... OMIM:613001
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Warburg Micro Syndrome 2
Cataract, Small scrotum, Cryptorchidism, Spastic diplegia, Developmental cataract, Microcornea, H... OMIM:614225
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia ORPHA:89844
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Mucolipidosis Iii Gamma
Aortic valve stenosis, Opacification of the corneal stroma OMIM:252605
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Corneal opacity OMIM:163200
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
3Mc Syndrome 3
Bifid scrotum, Corneal opacity, Cryptorchidism, Micropenis, Penoscrotal hypospadias OMIM:248340
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Gracile Bone Dysplasia
Asplenia, Micropenis, Aniridia, Hypoplastic spleen, Ankyloglossia OMIM:602361
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... OMIM:175500
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Cataract, Pyloric stenosis, Developmental cataract, Neutropenia, Meckel diverticulum OMIM:616395
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Lymphedema-Hypoparathyroidism Syndrome
Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prolapse, Nephropathy OMIM:247410
Aceruloplasminemia
Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Diabetes mellitus, Tremor, Ri... ORPHA:48818
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, D... OMIM:614381
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... OMIM:269200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros... ORPHA:564
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Intestinal malrotation, ... ORPHA:2538
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Corneal opacity, Hypospadias, Unilateral renal agenesis, Pyloric steno... ORPHA:464306
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Cataract, Female hypogonadism, Premature ovarian in... OMIM:240300
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Decreased response to growth hormone stimulation test, Opacification of the c... OMIM:601853
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Cataract, Ataxia, Dystonia, Tremor, ... OMIM:615356
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Aniridia 3
Aniridia, Cataract OMIM:617142
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Parkinsonism with favorable respon... ORPHA:240071
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Furrowed tongue, Melena, Hematuria, ... OMIM:158310
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Corneal opacity, Hypospadias, Unilateral renal agenesis, Renal cyst, M... ORPHA:464311
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Mucopolysacchariduria, Corneal opacity ORPHA:582
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Polycystic ovaries, Hemiplegia, Megalocornea, Congenital aphakia ORPHA:137675
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dystonia, Corneal opacity, Babinski sign, Polycoria, Developmental cataract, Microcornea, Hypopla... OMIM:175780
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ureteral duplication, Cataract, Corneal opacity, Ventricular septal defect, ... OMIM:274000
De Barsy Syndrome
Cataract, Corneal opacity, Cryptorchidism, Athetosis, Progressive cerebellar ataxia ORPHA:2962
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Clonus, ... ORPHA:649
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Esophageal stenosis, Proteinuria, Hypoperistalsis, Keratitis, Esophageal neoplasm, Chro... ORPHA:1018
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Cryptorchidism, Buphthalmos, Hypoplastic male external genitalia, Pete... OMIM:236670
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Cataract, Intrahepatic cholestasis, Microcornea, Myoclonus, Op... ORPHA:46059
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, Microcornea, High palate, Transposition of the great arte... OMIM:201000
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Astigmatism, Uro... OMIM:618820
Kindler Epidermolysis Bullosa
Urethral stricture, Corneal opacity, Phimosis, Esophageal stricture, Neoplasm of the urethra, Inf... ORPHA:2908
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Slurre... ORPHA:495875
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Pancytopenia, Corneal opacity, Abnormality of the spleen, Aortic valv... ORPHA:2072
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Keratoconjunctivitis sicc...</