Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Rab39b MGI:1915040

Gene Summary

Name:

RAB39B, member RAS oncogene family

Synonyms:

6330580M05Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
increased circulating aspartate transaminase level	Rab39b^em1(IMPC)Tcp	HOM	Early adult	6.99×10^-05
abnormal liver morphology	Rab39b^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal auditory brainstem response	Rab39b^em1(IMPC)Tcp	HOM	Early adult	9.30×10^-05
enlarged urinary bladder	Rab39b^em1(IMPC)Tcp	HEM	Late adult	0.00
decreased heart weight	Rab39b^em1(IMPC)Tcp	HEM	Late adult	2.17×10^-05
abnormal cornea morphology	Rab39b^em1(IMPC)Tcp	HEM	Late adult	1.07×10^-08
abnormal skin morphology	Rab39b^em1(IMPC)Tcp	HEM	Early adult	0.00
decreased spleen weight	Rab39b^em1(IMPC)Tcp	HEM	Late adult	1.47×10^-05
small ovary	Rab39b^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal cornea morphology	Rab39b^em1(IMPC)Tcp	HOM	Late adult	2.03×10^-11
corneal opacity	Rab39b^em1(IMPC)Tcp	HOM	Late adult	6.80×10^-11
tremors	Rab39b^em1(IMPC)Tcp	HOM	Late adult	9.23×10^-07
abnormal freezing behavior	Rab39b^em1(IMPC)Tcp	HOM	Early adult	1.88×10^-06
hydrometra	Rab39b^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal stomach morphology	Rab39b^em1(IMPC)Tcp	HEM	Late adult	0.00
corneal opacity	Rab39b^em1(IMPC)Tcp	HEM	Late adult	2.13×10^-07
cataract	Rab39b^em1(IMPC)Tcp	HEM	Late adult	1.40×10^-08
abnormal lens morphology	Rab39b^em1(IMPC)Tcp	HOM	Late adult	6.49×10^-12
cataract	Rab39b^em1(IMPC)Tcp	HOM	Late adult	2.43×10^-12
abnormal lens morphology	Rab39b^em1(IMPC)Tcp	HEM	Late adult	7.20×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Histopathology

Images

24 Images

View images

Eye Morphology

Images Ophthalmoscopy

176 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Eye Morphology

Images Slit Lamp

9 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Histopathology

Images

4 Images

View images

Gross Pathology and Tissue Collection

Images

8 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Gross Pathology and Tissue Collection

Images

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Eye Morphology

Images Ophthalmoscopy

1 Images

View images

Electrocardiogram (ECG)

Waveform Image

1 Images

View images

Combined SHIRPA and Dysmorphology

Images

1 Images

View images

Immunophenotyping

Panel B FCS file(s)

6 Images

View images

Immunophenotyping

Panel A FCS file(s)

6 Images

View 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.

Human diseases associated with Rab39b (3 diseases)
Human diseases predicted to be associated with Rab39b (649 diseases)

The table below shows human diseases associated to Rab39b by orthology or direct annotation.

Disease	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	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...	ORPHA:779
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Pyloric stenosis	ORPHA:664
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega...	ORPHA:699
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepa...	ORPHA:1454
Agel Amyloidosis	Tongue atrophy, Cataract, Proteinuria, Xerostomia, Stage 5 chronic kidney disease, Cardiomyopathy...	ORPHA:85448
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst...	ORPHA:488618
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Charcot-Marie-Tooth Disease Type 1F	Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu...	ORPHA:101085
Mosaic Trisomy 8	Corneal opacity, Cleft palate, High palate, Vesicoureteral reflux, Hydronephrosis	ORPHA:96061
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticit...	ORPHA:2396
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract...	ORPHA:234
Microphthalmia, Syndromic 3	Cataract, Hypogonadotropic hypogonadism, Hypospadias, Sclerocornea, Anterior pituitary hypoplasia...	OMIM:206900
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Hypospadias, Elevated circulating aspart...	OMIM:614866
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Cataract, Iris coloboma, Corneal scarring	OMIM:212550
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Cleft palate, High palate, Micropenis	OMIM:614230
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Corneal ...	ORPHA:355
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Spastic...	OMIM:278730
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Ventricular septal defect, Hypospadias, ...	OMIM:214100
Knobloch Syndrome	Cataract, Dextrocardia, Ectopia lentis, Pyloric stenosis, Vesicoureteral reflux, Lymphangioma, Bi...	ORPHA:1571
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Corneal opacity, Splenomegaly, Dermatan sulfate excretion in urine, Cardiomyopathy,...	OMIM:253200
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria, Macroglossia, As...	ORPHA:309282
Limb Body Wall Complex	Corneal opacity, Ventricular septal defect, Cleft palate, Abnormal heart morphology, Abnormality ...	ORPHA:2369
Incontinentia Pigmenti	Cataract, Corneal opacity, Supernumerary nipple, Keratitis, Hemiplegia/hemiparesis, Spasticity	ORPHA:464
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Schimke Immunoosseous Dysplasia	Pancytopenia, Renal insufficiency, Proteinuria, Thrombocytopenia, Stage 5 chronic kidney disease,...	OMIM:242900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Ventricular septal defect, Corneal opacity, High, narrow palate, Macroglossia...	ORPHA:488632
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan su...	ORPHA:217085
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Ataxia,...	ORPHA:478
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Cataract, Ataxia, Splenomegaly, Jaundice, Nuclear cataract, Hypertonia, Spasticity	OMIM:608885
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond...	ORPHA:909
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Moebius Syndrome	Breast aplasia, Corneal opacity, Hypogonadotropic hypogonadism	ORPHA:570
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan su...	ORPHA:217093
Alg9-Cdg	Hepatomegaly, Lower limb spasticity, Torticollis, Periportal fibrosis, Bicornuate uterus, Hypopla...	ORPHA:79328
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Esophageal atresia, Axillary pterygium, Congenital pyloric atresia	OMIM:226730
Chime Syndrome	Ventricular septal defect, Corneal opacity, Tetralogy of Fallot, Cleft palate, Acute leukemia, Tr...	ORPHA:3474
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Mednik Syndrome	Cataract, Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon	OMIM:609313
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Cryptorchidism, Microcornea, Micropenis	OMIM:610125
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Nephrocalcinosis, Gast...	ORPHA:904
Mucopolysaccharidosis Type 2	Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo...	ORPHA:580
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Corneal opacity, Hypospadias, Sclerocornea, Epispadias, Dilated cardio...	ORPHA:2556
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Developmental cataract, Spastic dysarthria, Lower...	ORPHA:447753
Dyggve-Melchior-Clausen Disease	Frequent falls, Corneal opacity, Spastic tetraparesis	ORPHA:239
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Cataract, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease...	OMIM:308940
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence	OMIM:146500
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Mitral valve prolapse	OMIM:259600
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia	ORPHA:2617
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Optic atrophy, Increased blood urea nitrogen, Macrotia, Abno...	ORPHA:90321
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Corneal opacity, Corneal erosion, Ambiguous genitalia, Abnormality of female...	ORPHA:920
Oculocerebrorenal Syndrome Of Lowe	Hypercalciuria, Renal insufficiency, Cataract, Corneal opacity, Proteinuria, Malabsorption, Abnor...	ORPHA:534
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Mend Syndrome	Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes...	ORPHA:401973
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Extrapyrami...	ORPHA:67036
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Abnormal heart valve morphology, Posterior subcapsular cataract, Cleft palate, A...	ORPHA:536471
Mirage Syndrome	Hypospadias, Esophageal stricture, Anemia, Leukopenia, Gastroesophageal reflux, Microphallus, Hyp...	OMIM:617053
Peters Plus Syndrome	Intestinal fistula, Ureteral duplication, Cataract, Corneal opacity, Multicystic kidney dysplasia...	ORPHA:709
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo...	ORPHA:171929
Microphthalmia, Syndromic 9	Ventricular septal defect, Hypoplastic left atrium, Multilobulated spleen, Hypoplastic spleen, Re...	OMIM:601186
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag...	ORPHA:141127
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Elevated circulating thyroid-stimulating hormone concentration, Corneal op...	OMIM:601812
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microglossia, Corneal opacity, Cleft palate	ORPHA:364577
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Hiatus hernia, Hypoplasi...	OMIM:251300
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Ataxia-Telangiectasia	Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Female hypogonadism, Tremor, Slurred spee...	OMIM:208900
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea, Vesicoureteral reflux, Double inlet left ventricle, High palate, Atrial s...	OMIM:619869
Neurofibromatosis Type 1	Cataract, Corneal opacity, Ataxia, Precocious puberty, Cryptorchidism, Abnormality of the endocri...	ORPHA:636
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Cataract, Ventricular septal defect, Aga...	ORPHA:818
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon...	OMIM:229850
Proboscis Lateralis	Cataract, Ventricular septal defect, Corneal opacity, Unilateral renal agenesis, Microcornea, Ure...	ORPHA:141099
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Sclerocornea	OMIM:300952
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Abnormal heart valve morphology, Opacification of the corneal stroma, Chondroitin s...	OMIM:253000
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Cryptorchidism, Spasticity, Abnormality...	ORPHA:910
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A...	OMIM:118450
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Autosomal Dominant Cutis Laxa	Corneal opacity, Unilateral renal agenesis, Dilatation of the ventricular cavity, Pyelonephritis,...	ORPHA:90348
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Corneal opacity, Ventricular septal ...	OMIM:608670
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Renal cyst, Cleft palate, Renal cortical cysts, Opac...	ORPHA:1692
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, P...	OMIM:606002
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Smooth tongue, Anemia	ORPHA:79396
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne...	ORPHA:512
Jacobsen Syndrome	Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Intestinal malrotation, Pylori...	ORPHA:2308
Oculoectodermal Syndrome	Atrial septal defect, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermo...	OMIM:600268
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Lathosterolosis	Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic chol...	OMIM:607330
Fraser Syndrome 1	Abnormal small intestine morphology, Corneal opacity, Hypospadias, Renal hypoplasia, Cleft palate...	OMIM:219000
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Corneal opacity, Cleft palate	OMIM:150250
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Leopard Syndrome 1	Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic...	OMIM:151100
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Wiedemann-Rautenstrauch Syndrome	Cataract, Corneal opacity, Ataxia, Hypogonadotropic hypogonadism, Action tremor, Tremor, Hypospad...	ORPHA:3455
Cockayne Syndrome A	Hepatomegaly, Cataract, Ataxia, Tremor, Splenomegaly, Cryptorchidism, Irregular menstruation, Thy...	OMIM:216400
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc...	ORPHA:79403
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease, Corneal crystals	OMIM:219900
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Wolf-Hirschhorn Syndrome	Ataxia, Hypospadias, Sclerocornea, Cryptorchidism, Abnormality of the gallbladder, Abdominal situ...	ORPHA:280
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Cockayne Syndrome B	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Cryptorchidism, Developmental cataract, Microcornea, ...	OMIM:133540
Digeorge Syndrome	Renal insufficiency, Ventricular septal defect, Sclerocornea, Unilateral renal agenesis, Thromboc...	OMIM:188400
Tsh-Secreting Pituitary Adenoma	Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period...	ORPHA:91347
Pontocerebellar Hypoplasia Type 7	Ambiguous genitalia, Involuntary movements, Abnormal scrotal rugation, Cryptorchidism, Micropenis...	ORPHA:284339
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Malabsorption, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting...	ORPHA:47159
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Micropenis, Hypoplastic labia majora, Poplit...	OMIM:263650
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Macroglossia, Mucopolysacchariduria, Opacification of t...	OMIM:252500
Yunis-Varon Syndrome	Cataract, Ventricular septal defect, Hypospadias, Sclerocornea, Cardiomegaly, High, narrow palate...	ORPHA:3472
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital...	OMIM:202010
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Autosomal Recessive Cutis Laxa Type 1	Cataract, Pyloric stenosis, Dilatation of the ventricular cavity, Pyelonephritis, Urethral divert...	ORPHA:90349
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Abnormal preputium morphology, Abnormality of the uret...	ORPHA:2907
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Hypospadias, Enlarged labia minora, Cryptorchidism, ...	OMIM:268300
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Vocal cord paralysis, Spasticity, Micropenis, Central hypothyroidism, ...	ORPHA:798
Osteogenesis Imperfecta	Abnormal endocardium morphology, Intestinal obstruction, Corneal opacity, Nephrolithiasis, Hyperc...	ORPHA:666
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Cardiomegaly	ORPHA:79280
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
3-Methylglutaconic Aciduria, Type Viii	Cataract, Clonus, Tremor, Jaundice, Hypertonia, Dystonia	OMIM:617248
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Corneal opacity, Aganglionic megacolon, Keratitis, Corneal erosion, Astigmatism, Con...	ORPHA:2273
Knobloch Syndrome 1	Band keratopathy, Pyloric stenosis, Developmental cataract, Iris transillumination defect, Lens s...	OMIM:267750
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Corneal opacity, Mitral stenosis, Aortic val...	ORPHA:740
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora...	OMIM:311510
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size	OMIM:619321
Van Den Ende-Gupta Syndrome	High, narrow palate, High palate, Cleft palate, Sclerocornea	OMIM:600920
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Meckel Syndrome 14	Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus	OMIM:619879
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353281
Limb-Mammary Syndrome	Absent nipple, Chronic irritative conjunctivitis, Primary amenorrhea, Bilateral breast hypoplasia...	ORPHA:69085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Spasticity, Buphthalmos, Myoclonus, Opacification of the corneal stroma, Megalocornea	OMIM:253280
Stuve-Wiedemann Syndrome 1	Smooth tongue, Opacification of the corneal stroma, Dysphagia	OMIM:601559
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Viss Syndrome	Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage...	OMIM:619472
Mowat-Wilson Syndrome	Cataract, Ventricular septal defect, Aganglionic megacolon, Hypospadias, Pyloric stenosis, Submuc...	OMIM:235730
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Knobloch Syndrome 2	Pyloric stenosis, Anterior cortical cataract	OMIM:618458
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Microphthalmia, Syndromic 6	Small scrotum, Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Cryptorchidism, Microcornea...	OMIM:607932
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of th...	OMIM:614527
Wolf-Hirschhorn Syndrome	Accessory spleen, Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract ...	OMIM:194190
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Spasticity, Decreased testicular size, Opacification of the corneal stroma, Micropenis	OMIM:615287
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353277
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urethra, Congenital pyloric atresia, Ureterocele, Glomerular sclerosis, Hydron...	ORPHA:158684
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Kera...	OMIM:308205
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Neu-Laxova Syndrome 1	Cryptorchidism, Pterygium, Cataract, Bifid uterus	OMIM:256520
Okamoto Syndrome	Splenomegaly, Astigmatism, Bifid uterus	ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse	OMIM:130050
Coffin-Siris Syndrome 1	Hypospadias, Cryptorchidism, Gait ataxia, Astigmatism, Aplasia of the uterus, Clitoral hypertrophy	OMIM:135900
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio...	OMIM:618280
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus	OMIM:614083
Yunis-Varon Syndrome	Cataract, Ventricular septal defect, Hypospadias, Sclerocornea, Pyloric stenosis, Cardiomyopathy,...	OMIM:216340
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma...	ORPHA:322
Microphthalmia, Syndromic 1	Hydroureter, Bicuspid aortic valve, Aganglionic megacolon, Hypospadias, High, narrow palate, Rect...	OMIM:309800
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology	OMIM:236680
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700
Vascular Ehlers-Danlos Syndrome	Keratoconus, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, Uterine rupture, ...	ORPHA:286
Pallister-Killian Syndrome	Cataract, Hypospadias, Small scrotum, Supernumerary nipple, Cryptorchidism, Hypoplastic labia maj...	OMIM:601803
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ...	OMIM:276820
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Early-Onset Parkinsonism-Intellectual Disability Syndrome	Rigidity, Cogwheel rigidity	ORPHA:2379

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Life Stage
Femur - MPATH pathological entity term osteopenia	Rab39b^em1(IMPC)Tcp	HOM	Late adult
Brain - MPATH pathological entity term hyalinosis	Rab39b^em1(IMPC)Tcp	HEM	Late adult
Femur - MPATH pathological entity term osteopenia	Rab39b^em1(IMPC)Tcp	HEM	Late adult
Femur - MPATH pathological process term hypoplasia	Rab39b^em1(IMPC)Tcp	HOM	Early adult
Spinal cord - MPATH pathological process term dystrophy	Rab39b^em1(IMPC)Tcp	HEM	Late adult
Spinal cord - MPATH pathological process term dystrophy	Rab39b^em1(IMPC)Tcp	HOM	Late adult
Spinal cord - MPATH pathological process term extracellular matrix deposition	Rab39b^em1(IMPC)Tcp	HOM	Late adult
Tibia - MPATH pathological process term hypoplasia	Rab39b^em1(IMPC)Tcp	HOM	Early adult
Brain - MPATH pathological entity term hyalinosis	Rab39b^em1(IMPC)Tcp	HOM	Late adult
Brain - MPATH pathological process term atrophy	Rab39b^em1(IMPC)Tcp	HOM	Late adult
Tibia - MPATH pathological entity term osteopenia	Rab39b^em1(IMPC)Tcp	HOM	Early adult
Brain - MPATH pathological process term atrophy	Rab39b^em1(IMPC)Tcp	HEM	Late adult
Femur - MPATH pathological process term hypoplasia	Rab39b^em1(IMPC)Tcp	HOM	Late adult
Spinal cord - MPATH pathological process term extracellular matrix deposition	Rab39b^em1(IMPC)Tcp	HEM	Late adult
Brain - MPATH pathological process term vacuolation	Rab39b^em1(IMPC)Tcp	HEM	Late adult
Femur - MPATH pathological entity term osteopenia	Rab39b^em1(IMPC)Tcp	HOM	Early adult
Femur - MPATH pathological process term hypoplasia	Rab39b^em1(IMPC)Tcp	HEM	Late adult
Brain - MPATH pathological process term vacuolation	Rab39b^em1(IMPC)Tcp	HOM	Late adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rab39b.

No publications found that use IMPC mice or data for Rab39b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Rab39b^em1(IMPC)Tcp	Intra-exon deletion	Mice, Tissue
Rab39b^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rab39b^em2(IMPC)Tcp	Intra-exon deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter