Gene Summary

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

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
cataract Rab39bem1(IMPC)Tcp HEM Late adult 1.38×10-06
cataract Rab39bem1(IMPC)Tcp HOM Late adult 1.03×10-11
abnormal skin morphology Rab39bem1(IMPC)Tcp HEM Early adult 0.00
corneal opacity Rab39bem1(IMPC)Tcp HEM Late adult 1.88×10-07
abnormal cornea morphology Rab39bem1(IMPC)Tcp HEM Late adult 1.07×10-08
tremors Rab39bem1(IMPC)Tcp HOM Late adult 9.23×10-07
decreased spleen weight Rab39bem1(IMPC)Tcp HEM Late adult 1.47×10-05
abnormal cornea morphology Rab39bem1(IMPC)Tcp HOM Late adult 2.03×10-11
corneal opacity Rab39bem1(IMPC)Tcp HOM Late adult 6.94×10-11
abnormal lens morphology Rab39bem1(IMPC)Tcp HOM Late adult 6.49×10-12
abnormal lens morphology Rab39bem1(IMPC)Tcp HEM Late adult 7.20×10-07
abnormal freezing behavior Rab39bem1(IMPC)Tcp HOM Early adult 1.88×10-06
abnormal stomach morphology Rab39bem1(IMPC)Tcp HEM Late adult 0.00
decreased heart weight Rab39bem1(IMPC)Tcp HEM Late adult 2.17×10-05
hydrometra Rab39bem1(IMPC)Tcp HOM Late adult 0.00
increased circulating aspartate transaminase level Rab39bem1(IMPC)Tcp HOM Early adult 6.99×10-05
abnormal auditory brainstem response Rab39bem1(IMPC)Tcp HOM Early adult 7.44×10-05
small ovary Rab39bem1(IMPC)Tcp HOM Late adult 0.00
abnormal liver morphology Rab39bem1(IMPC)Tcp HOM Late adult 0.00
enlarged urinary bladder Rab39bem1(IMPC)Tcp HEM Late 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.

Eye Morphology

Images Ophthalmoscopy

176 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Histopathology

Images

4 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

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
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Co... OMIM:311510
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy 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
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Spastic Paraparesis And Deafness
Cataract, Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal dystrophy, Corneal opacity, Upper motor neuron dysfunction... ORPHA:3177
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses 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
Cataract, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity, Median cleft palate ORPHA:2432
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Ataxia, Hypogonadism, Cataract, Spastic paraparesis ORPHA:2815
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, 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
Optic Atrophy 3, Autosomal Dominant
Cataract, Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Dermoids Of Cornea
Corneal opacity OMIM:304730
Dysequilibrium Syndrome
Cataract, Ataxia, Cerebral palsy ORPHA:1766
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Cataract, Hand tremor, Progressive spastic paraplegia ORPHA:401830
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo... ORPHA:1067
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Winchester Syndrome
Corneal opacity OMIM:277950
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia OMIM:271310
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hypergonadotropic hypogonadism, Intention tremor, Hemiparesis, Ataxia, Abnorm... OMIM:614307
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Morquio Syndrome C
Corneal opacity OMIM:252300
Cataract 11, Multiple Types
Cataract, Chorea, Hypertonia, Developmental cataract OMIM:610623
Stickler Syndrome Type 2
Cataract, Cleft palate, Corneal opacity ORPHA:90654
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Bilateral cleft palate, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Hearing impairment, Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Mucolipidosis Iv
Babinski sign, Corneal opacity, Dystonia, Hypergastrinemia, Spastic tetraplegia, Opacification of... OMIM:252650
Mucolipidosis Type Iii
Abnormal heart valve morphology, Abnormal aortic valve morphology, Corneal opacity, Cleft palate ORPHA:577
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia ORPHA:1532
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Cornea... ORPHA:93476
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Dilated cardio... OMIM:618815
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Progressive spasticity, Hypogonadism ORPHA:2528
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Galactosuria OMIM:230200
Trichomegaly
Cataract OMIM:190330
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Glossoptosis, Cataract, Ventricular septal defect OMIM:614876
Dystonia 28, Childhood-Onset
Astigmatism, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial d... OMIM:617284
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials ORPHA:99852
Childhood Disintegrative Disorder
Motor deterioration, Progressive language deterioration, Reduced social reciprocity, Dementia, Me... ORPHA:168782
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Abnormal cardiac septum morphology ORPHA:2370
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Spasticity, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Congenital Rubella Syndrome
Hepatomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocytopenia... ORPHA:290
Xeroderma Pigmentosum, Complementation Group G
Cataract, Spasticity, Tremor, Ataxia OMIM:278780
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Sialidosis Type 2
Hepatomegaly, Tremor, Corneal opacity, Ataxia, Splenomegaly ORPHA:87876
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Opacification of the corneal stroma, Polycystic ovaries, Decreased fertilit... ORPHA:1643
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Infertili... OMIM:614409
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Erythrokeratodermia Variabilis
Cataract, Diabetes mellitus, Corneal opacity, Abnormal testis morphology ORPHA:317
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Unilateral renal agenesis, Corneal opacity, Abnormal stomach morphology, Renal in... ORPHA:281090
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal... OMIM:240950
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Developmental cataract, Ataxia ORPHA:1368
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Aniridia, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str... OMIM:194072
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
4H Leukodystrophy
Delayed puberty, Decreased response to growth hormone stimulation test, Abnormality of thyroid ph... ORPHA:289494
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Autosomal Recessive Spastic Paraplegia Type 46
Babinski sign, Abnormal sperm head morphology, Spastic dysarthria, Lower limb spasticity, Truncal... ORPHA:320391
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Abnormality of the ovary, Hypogonadism ORPHA:1875
Harel-Yoon Syndrome
Spasticity, Corneal opacity, Dystonia, Developmental cataract, Ataxia OMIM:617183
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Hypogonadism, Ankle clonus OMIM:615768
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Delayed puberty, Spasticity, Corneal opacity, Gait ataxia, Cataract, Cryptorchidism ORPHA:496790
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Spasticity, Micropenis OMIM:610156
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:79292
Classic Galactosemia
Delayed puberty, Elevated circulating hepatic transaminase concentration, Incoordination, Action ... ORPHA:79239
Alpha-Mannosidosis
Narrow palate, Hepatomegaly, Corneal opacity, Splenomegaly, Cataract, Macroglossia ORPHA:61
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Microcornea, Intention tremor, Ataxia, Abnormal pyramidal sign, Cataract, Hypogonadotropi... ORPHA:48431
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Dysdiadochokinesis, Gait atax... OMIM:224050
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly, Anemia OMIM:273680
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Anal atresia, Tetralogy of Fall... ORPHA:1381
Martsolf Syndrome 2
Cataract, Developmental cataract, Hypogonadotropic hypogonadism, Spastic diplegia OMIM:619420
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy ORPHA:1369
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Ataxia, Type II diabetes mellitus, Cong... ORPHA:2377
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, Cryptorchidism ORPHA:1867
Sialidosis Type 1
Tremor, Corneal opacity, Ataxia, Splenomegaly, Myoclonus, Cataract, Slurred speech ORPHA:812
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Dystonia, Ataxia, Splenomegaly, Myoclonus, Opacification of the corneal stroma, Slu... OMIM:230650
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Juvenile cataract, Resting tremor, Tremor, Sp... OMIM:300055
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Ichthyosis, X-Linked
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism OMIM:308100
Juvenile Sialidosis Type 2
Hepatomegaly, Visceromegaly, Corneal opacity, Protruding tongue, Abnormal heart morphology, Hepat... ORPHA:93399
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Hypothyroidism, Dystonia, Myoclonus OMIM:619647
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Peroxisome Biogenesis Disorder 8B
Decreased liver function, Babinski sign, Hypertonia, Lower limb spasticity, Spasticity, Frequent ... OMIM:614877
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Intention tremor, Pro... ORPHA:284289
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Li... OMIM:270800
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare... OMIM:616053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Left ventricular hypertrophy OMIM:613153
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Senior-Loken Syndrome
Cataract, Premature ovarian insufficiency, Ataxia, Congenital hepatic fibrosis ORPHA:3156
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis, Decreased liver function ORPHA:570422
Autosomal Recessive Spastic Paraplegia Type 26
Babinski sign, Premature ovarian insufficiency, Lower limb spasticity, Decreased serum testostero... ORPHA:101006
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Alpha-Mannosidosis, Adult Form
Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Recurrent gastro... ORPHA:309288
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft palate, Hematuria, Iris coloboma OMIM:120433
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Zellweger Syndrome
Hepatomegaly, Jaundice, Hypospadias, Corneal opacity, High palate, Pyloric stenosis, Posterior em... ORPHA:912
Wagr Syndrome
Dysfunction of lateral corticospinal tracts, Displacement of the urethral meatus, Cataract, Ambig... ORPHA:893
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Hepatomegaly, Spasticity, Tremor, Frequent falls, Gait ataxia, Hepatic bridging fibr... OMIM:616719
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Corneal opacity, Proteinuria, Renal insufficiency OMIM:166300
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Hypoplasia of the u... ORPHA:432
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Cardiomyopathy, Iris hypopigmentation, Thrombocytopenia, Cataract ORPHA:67048
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract OMIM:152950
Late-Infantile/Juvenile Krabbe Disease
Irritability, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduct... ORPHA:206443
Usher Syndrome Type 3
Cataract, Iris hypopigmentation, Astigmatism, Ataxia ORPHA:231183
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract, Enterocolitis, Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:620425
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Congenital Sialidosis Type 2
Hepatomegaly, Spasticity, Corneal opacity, Developmental cataract, Ataxia, Hepatosplenomegaly, My... ORPHA:93400
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chorea, Truncal ataxia, Ca... ORPHA:369840
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Spastic paraparesis, Spasticity, Astigmatism OMIM:270200
Lowry-Maclean Syndrome
High, narrow palate, Atrioventricular canal defect, Developmental glaucoma, Hypospadias, Midgut m... ORPHA:2409
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Spasticity, Corneal opacity, Hypothyroidism, Abnorm... ORPHA:349
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Cryptorchidism ORPHA:461
Scheie Syndrome
Hepatomegaly, Corneal opacity, Cerebral palsy, Splenomegaly, Spastic paraparesis ORPHA:93474
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Corneal opacity ORPHA:2788
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Spasticity, Cryptorchidism, Hepatomegaly OMIM:613730
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Hypergonadotropic hypog... OMIM:617145
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ... ORPHA:650
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Bilateral cleft palate, Corneal opacity, Antecubital pte... OMIM:619339
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Corneal opacity, Iris hypopi... ORPHA:2719
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Babinski sign, Spasticity, Subcapsular cataract, Intention tremor, Ataxia, Cataract, Dysmetria OMIM:612674
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Impotence, Cataract, Diabetes mellitus, Hepatic steatosis OMIM:606069
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li... OMIM:213600
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Hepatomegaly, Hypospadias, Vesicoureteral reflux, Corneal opacity, Pulmonic stenosis... OMIM:301056
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Microphthalmia With Brain And Digit Anomalies
Microcornea, Abnormality of the hypothalamus-pituitary axis, Sclerocornea, Cataract, Cryptorchidi... ORPHA:139471
Stromme Syndrome
Accessory spleen, Duodenal atresia, Microcornea, Intestinal malrotation, Hydronephrosis, Scleroco... OMIM:243605
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Galactokinase Deficiency
Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, ... ORPHA:79237
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis ORPHA:66633
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Joubert Syndrome 9
Cataract, Hepatic fibrosis, Astigmatism, Oculomotor apraxia OMIM:612285
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Splenomegaly, Cataract ORPHA:585
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Cystinosis
Delayed puberty, Corneal opacity, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroi... ORPHA:213
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo... ORPHA:2930
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari... ORPHA:64743
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Pr... OMIM:215250
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Corneal opacity OMIM:620469
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De... ORPHA:100924
Galactosemia I
Decreased liver function, Premature ovarian insufficiency, Cirrhosis, Hepatomegaly, Elevated circ... OMIM:230400
Fryns Syndrome
Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Duodenal atresia, Ectopic anus, Vesi... ORPHA:2059
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... ORPHA:98957
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Spasticity, Tremor, Poor motor coordination, Limb dyst... ORPHA:363400
Bartsocas-Papas Syndrome
Ambiguous genitalia, Hypoplastic male external genitalia, Popliteal pterygium, Corneal opacity ORPHA:1234
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Wagro Syndrome
Hypoplastic female external genitalia, Aniridia, Corneal opacity, Decreased testicular size, Cata... OMIM:612469
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ectopia lentis, Cataract, Ventricular septal defect ORPHA:3449
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Mosaic Trisomy 9
Dextrocardia, Abnormal liver lobulation, Hypoplasia of penis, Abnormal heart valve morphology, Co... ORPHA:99776
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Increased urinary disaccharide excretion OMIM:271630
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Urina... OMIM:256550
Stiff Skin Syndrome
Cataract, Bicuspid aortic valve, Gastroesophageal reflux OMIM:184900
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Cervix cancer,... ORPHA:1772
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Esophageal atresia, Hypoplasia of penis, Tracheoesophageal fistula, Sclerocornea, Ve... ORPHA:77298
Gm1 Gangliosidosis
Abnormality of extrapyramidal motor function, Decerebrate rigidity, Spasticity, Tremor, Corneal o... ORPHA:354
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism OMIM:601794
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Spastic paraplegia, Cataract, Pseudobulbar paralysis OMIM:616586
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... ORPHA:1830
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Pseudo-Torch Syndrome 1
Hepatomegaly, Jaundice, Patent foramen ovale, High palate, Thrombocytopenia, Splenomegaly, Catara... OMIM:251290
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Ne... ORPHA:157798
3Q29 Microduplication Syndrome
Aniridia, Ectopic anus, High palate, Cleft palate, Sclerocornea, Cataract, Ventricular septal def... ORPHA:251038
Hereditary Mucoepithelial Dysplasia
Hematuria, Anorectal anomaly, Corneal dystrophy, Furrowed tongue, Tracheoesophageal fistula, Cata... ORPHA:1839
Mucolipidosis Type Iv
Corneal opacity, Ataxia ORPHA:578
Hurler Syndrome
Hepatomegaly, Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Enlarged tons... OMIM:607014
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Tremor, Cataract, ... OMIM:608093
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cataract, Cryptorchidism ORPHA:284160
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Oculomaxillofacial Dysostosis
Cleft palate, Corneal opacity ORPHA:1794
Walker-Warburg Syndrome
Hypoplasia of penis, Microcornea, Corneal opacity, Bifid uvula, Cleft palate, Cataract, Submucous... ORPHA:899
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Cataract, Dilated cardiomyopathy, Hepatic steatosis, Microcytic anemia OMIM:618805
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Heparan sulfate... OMIM:607015
Farber Disease
Elevated circulating hepatic transaminase concentration, Spasticity, Intrahepatic cholestasis wit... ORPHA:333
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Oculocerebrocutaneous Syndrome
Hemiplegia/hemiparesis, Cryptorchidism, Corneal opacity, Iris coloboma ORPHA:1647
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Multiple Sulfatase Deficiency
Hepatomegaly, Spasticity, Corneal opacity, Ataxia, Splenomegaly OMIM:272200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Cataract, Dysmetria OMIM:619780
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... ORPHA:397946
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed puberty, Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Postural tremor, Hypogonado... OMIM:607694
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal esophagus morphology, Abnormal pericardium morphology, A... ORPHA:2357
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time OMIM:616881
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Corneal opacity, Proteinuria, Nephropathy ORPHA:1765
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy OMIM:615184
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Classic Phenylketonuria
Hypertonia, Paraplegia, Tremor, Cataract, Hemiplegia ORPHA:79254
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventricular septal defect, Anal... OMIM:309801
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hypospadias, Microcornea, Abnormal heart morphology, Opacification of the corneal ... OMIM:601499
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Hypoplasia ... OMIM:214110
Cadds
Elevated circulating hepatic transaminase concentration, Cholangitis, Adrenal hypoplasia, Cholest... ORPHA:369942
Scheie Syndrome
Aortic valve stenosis, Mitral stenosis, Corneal opacity OMIM:607016
Hypermanganesemia With Dystonia 1
Bradykinesia, Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tra... OMIM:613280
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Premature ovarian insufficiency, Resting tremor, Secondary amenorrhea, Parkinsonism... OMIM:157640
Tangier Disease
Opacification of the corneal stroma, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy OMIM:205400
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly OMIM:256540
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Dementia ORPHA:1020
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Decreased proportion of class-switched memory B cells, Enterocolitis, Cataract, ... OMIM:614878
Sanjad-Sakati Syndrome
Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Corneal opac... ORPHA:2323
Griscelli Syndrome
Hepatomegaly, Jaundice, Lymphadenopathy, Pyloric stenosis, Bone marrow hypocellularity, Iris hypo... ORPHA:381
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Corneal opacity, Splenomegaly, Hepatitis ORPHA:584
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Patent foramen ovale, Corneal opacity, Right atrial enlargement, Pericardial effusion, Myocardial... OMIM:620519
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
3-Methylglutaconic Aciduria Type 7
Hypertonia, Elevated circulating hepatic transaminase concentration, Abnormality of extrapyramida... ORPHA:445038
Hypoparathyroidism, Familial Isolated, 1
Cataract, Chvostek sign, Decreased circulating parathyroid hormone level, Hypoparathyroidism OMIM:146200
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs... OMIM:261000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Fasciculations, Tremor, Exaggerated startle response, Cataract, Cryptorchidism OMIM:620327
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Chromosome 6Pter-P24 Deletion Syndrome
Ocular anterior segment dysgenesis, Patent foramen ovale, Axenfeld anomaly, Ventricular septal de... OMIM:612582
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Unilateral renal agenesis OMIM:616603
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Congenital Disorder Of Deglycosylation 1
Hyperkinetic movements, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Co... OMIM:615273
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Familial Dysautonomia
Corneal erosion, Gastroesophageal reflux, Abnormal peritoneum morphology, Corneal opacity, Hetero... ORPHA:1764
Wolfram Syndrome 1
Diabetes insipidus, Tremor, Hypothyroidism, Ataxia, Cataract, Diabetes mellitus, Testicular atrophy OMIM:222300
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Resting tremor, Gait ataxia, S... OMIM:601162
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma OMIM:615145
Dystonia-Deafness Syndrome 1
Generalized dystonia, Leg dystonia, Oculogyric crisis, Cataract, Pseudobulbar paralysis OMIM:607371
Mucolipidosis Type Iii Alpha/Beta
Keratan sulfate excretion in urine, Oligosacchariduria, Corneal opacity, Right ventricular hypert... ORPHA:423461
Mucopolysaccharidosis Type 1
Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormality of the tonsils, Co... ORPHA:579
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Decreased fertility, Testicular atrophy OMIM:313200
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Cornea... ORPHA:93473
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Keratan sulfate excretion in urine, Corneal opacity, Aortic valve stenosis, Chondro... OMIM:253010
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Tangier Disease
Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange ... ORPHA:31150
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Corneal opacity, Dermatan sulfate ... OMIM:253220
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
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis,... OMIM:105120
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Anemia, Corneal scarring, Abnormal esophagus morphology, Spontaneous esophageal perforation, Dysp... OMIM:226600
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Stomach cancer, Corneal opacity, Acute lymphoblastic leukemia, Cleft palate... ORPHA:1052
3-Methylglutaconic Aciduria, Type Viib
Hyperkinetic movements, Spasticity, Tremor, Zonular cataract, Dystonia, Ataxia, Opisthotonus, Myo... OMIM:616271
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypocellularity, Enterocoliti... OMIM:301108
Wilson Disease
Sunflower cataract, Portal fibrosis, Parkinsonism with favorable response to dopaminergic medicat... OMIM:277900
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Recurrent tonsillitis, Corneal opac... ORPHA:581
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Al-Gazali Syndrome
Sclerocornea, Corneal opacity, Hydronephrosis OMIM:609465
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microcornea, Precocious puberty, Sclerocornea, Ectopia pupillae, Cataract OMIM:615877
Fabry Disease
Abnormal endocardium morphology, Cornea verticillata, Abnormal aortic valve morphology, Hematuria... ORPHA:324
Brittle Cornea Syndrome 1
Keratoglobus, Keratoconus, Decreased corneal thickness, Mitral valve prolapse, Abnormal cornea mo... OMIM:229200
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity, Vesicoureteral reflux OMIM:120200
Focal Dermal Hypoplasia
Iris coloboma, Gastroesophageal reflux, Duodenal atresia, Corneal opacity, Hypoplasia of the iris... ORPHA:2092
Warburg Micro Syndrome 2
Microcornea, Cataract, Developmental cataract, Small scrotum, Cryptorchidism, Micropenis, Spastic... OMIM:614225
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata... OMIM:203780
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermoid, Atrial septa... OMIM:613001
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Systemic Sclerosis
Myocarditis, Acute kidney injury, Abnormal stomach morphology, Abnormality of the gastrointestina... ORPHA:90291
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... OMIM:620367
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Dysphagia ORPHA:89844
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Conjunctival hyperemia, Corneal opacity ORPHA:2399
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Mucopolysacchariduria, Splenomegaly, Opacification of the cornea... ORPHA:583
3Mc Syndrome 3
Penoscrotal hypospadias, Corneal opacity, Bifid scrotum, Cryptorchidism, Micropenis OMIM:248340
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... OMIM:606693
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Gracile Bone Dysplasia
Aniridia, Ankyloglossia, Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Bardet-Biedl Syndrome
Hydrometrocolpos, Astigmatism, Elevated circulating hepatic transaminase concentration, Aplasia/H... ORPHA:110
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... OMIM:618877
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Tr... ORPHA:2538
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Corneal opacity OMIM:163200
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Pyloric stenosis, Developmental cataract, Lymphopenia, Cataract, Neutropenia OMIM:616395
Infantile Krabbe Disease
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Decrease... ORPHA:206436
Lymphedema-Hypoparathyroidism Syndrome
Renal insufficiency, Pulmonary lymphangiectasia, Mitral valve prolapse, Cataract, Nephropathy OMIM:247410
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Ke... OMIM:240300
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, Pelvic kidney, Corn... ORPHA:464306
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Abnormal... OMIM:614381
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hyperkinetic movements, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ch... OMIM:615356
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Hematuria, Melena, Keratoconjunctivitis, Furrowed tongue, Eosinophili... OMIM:158310
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... OMIM:612109
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Band keratopathy, Keratoconjunctivitis, Asplenia, Hypothyroidism, Chronic hepatitis, P... OMIM:269200
Meckel Syndrome
Situs inversus totalis, Ureteral duplication, Accessory spleen, Microcornea, Pancreatic cysts, Fu... ORPHA:564
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Abnormal heart valve morphology, Corneal opacity ORPHA:582
De Barsy Syndrome
Progressive cerebellar ataxia, Athetosis, Corneal opacity, Cataract, Cryptorchidism ORPHA:2962
Aniridia 3
Cataract, Aniridia OMIM:617142
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Hematuria, Gastroesophageal reflux, Abnormal gastrointestinal tract morpholo... ORPHA:1018
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav... ORPHA:240071
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Opacification of the corneal stroma, Hyper... OMIM:601853
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, Pelvic kidney, Corn... ORPHA:464311
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Megalocornea, Congenital aphakia, Hemiplegia, Polycystic ovaries ORPHA:137675
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m... OMIM:301068
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Babinski sign, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Spasticity, Corne... OMIM:175780
Norrie Disease
Delayed puberty, Hypertonia, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Corneal opacit... ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Peters anomaly, Hypoplastic male external genitalia, Corneal opacity, Megalocornea, Cataract, Bup... OMIM:236670
Kindler Epidermolysis Bullosa