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Gene: Rab39b MGI:1915040

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Gene Summary

Name:

RAB39B, member RAS oncogene family

Synonyms:

6330580M05Rik

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	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating aspartate transaminase level		Rab39b^em1(IMPC)Tcp	HOM		Early adult	6.99×10^-05
abnormal stomach morphology		Rab39b^em1(IMPC)Tcp	HEM		Late adult	0.00
decreased heart weight		Rab39b^em1(IMPC)Tcp	HEM		Late adult	2.17×10^-05
abnormal lens morphology		Rab39b^em1(IMPC)Tcp	HOM		Late adult	6.49×10^-12
cataract		Rab39b^em1(IMPC)Tcp	HOM		Late adult	1.03×10^-11
hydrometra		Rab39b^em1(IMPC)Tcp	HOM		Late adult	0.00
abnormal cornea morphology		Rab39b^em1(IMPC)Tcp	HOM		Late adult	2.03×10^-11
abnormal skin morphology		Rab39b^em1(IMPC)Tcp	HEM		Early adult	0.00
corneal opacity		Rab39b^em1(IMPC)Tcp	HOM		Late adult	6.94×10^-11
cataract		Rab39b^em1(IMPC)Tcp	HEM		Late adult	1.38×10^-06
abnormal freezing behavior		Rab39b^em1(IMPC)Tcp	HOM		Early adult	1.88×10^-06
corneal opacity		Rab39b^em1(IMPC)Tcp	HEM		Late adult	1.88×10^-07
abnormal lens morphology		Rab39b^em1(IMPC)Tcp	HEM		Late adult	7.20×10^-07
decreased spleen weight		Rab39b^em1(IMPC)Tcp	HEM		Late adult	1.47×10^-05
tremors		Rab39b^em1(IMPC)Tcp	HOM		Late adult	9.23×10^-07
abnormal cornea morphology		Rab39b^em1(IMPC)Tcp	HEM		Late adult	1.07×10^-08
abnormal auditory brainstem response		Rab39b^em1(IMPC)Tcp	HOM		Early adult	7.44×10^-05
enlarged urinary bladder		Rab39b^em1(IMPC)Tcp	HEM		Late adult	0.00
abnormal liver morphology		Rab39b^em1(IMPC)Tcp	HOM		Late adult	0.00
small ovary		Rab39b^em1(IMPC)Tcp	HOM		Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

176 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

24 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Histopathology

Images

4 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Rab39b mutations

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

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

Human diseases associated with Rab39b (3 diseases)
Human diseases predicted to be associated with Rab39b (657 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Waisman Syndrome		Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Co...	OMIM:311510
Intellectual Developmental Disorder, X-Linked 72		Hyperactivity, Motor stereotypy	OMIM:300271
Early-Onset Parkinsonism-Intellectual Disability Syndrome		Rigidity, Cogwheel rigidity	ORPHA:2379

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autism, Susceptibility To, 20		Attention deficit hyperactivity disorder, Reduced social reciprocity	OMIM:618830
Spastic Paraparesis And Deafness		Cataract, Spastic paraparesis, Tremor, Hypogonadism	OMIM:312910
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome		Progressive cerebellar ataxia, Corneal dystrophy, Corneal opacity, Upper motor neuron dysfunction...	ORPHA:3177
Deafness, Autosomal Recessive 9		Sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1		Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Hydrocephaly-Cerebellar Agenesis Syndrome		Cataract, Ataxia	ORPHA:1397
Alpha-N-Acetylgalactosaminidase Deficiency Type 3		Cataract, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Corneal Dystrophy, Endothelial, X-Linked		Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2		Corneal dystrophy, Corneal opacity	OMIM:609140
Hypertrophic Neuropathy And Cataract		Cataract	OMIM:239900
Macrosomia-Microphthalmia-Cleft Palate Syndrome		Microcornea, Hepatomegaly, Corneal opacity, Median cleft palate	ORPHA:2432
Deafness, Autosomal Recessive 104		Prelingual sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:616515
Spastic Paraparesis-Deafness Syndrome		Hemiplegia/hemiparesis, Ataxia, Hypogonadism, Cataract, Spastic paraparesis	ORPHA:2815
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness		Cataract, Cryptorchidism	OMIM:274205
Corneal Dystrophy-Perceptive Deafness Syndrome		Corneal dystrophy, Corneal opacity	ORPHA:1490
Cataract-Microcornea Syndrome		Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Bilateral Striopallidodentate Calcinosis		Abnormality of the liver, Hepatomegaly, Corneal opacity	ORPHA:1980
Cataract And Congenital Ichthyosis		Cataract	OMIM:212400
Hereditary Hyperferritinemia-Cataract Syndrome		Cataract	ORPHA:163
Cataract 29		Cataract	OMIM:115800
Cataract 35		Cataract	OMIM:609376
Cataract 36		Cataract	OMIM:613887
Optic Atrophy 3, Autosomal Dominant		Cataract, Abnormality of extrapyramidal motor function, Tremor	OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities		Cataract, Infertility	OMIM:300719
Glaucoma 3, Primary Congenital, D		Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Spinocerebellar Ataxia, Autosomal Recessive 24		Cataract, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Dermoids Of Cornea		Corneal opacity	OMIM:304730
Dysequilibrium Syndrome		Cataract, Ataxia, Cerebral palsy	ORPHA:1766
Neutropenia, Severe Congenital, 9, Autosomal Dominant		Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Galactosialidosis		Corneal opacity	ORPHA:351
Corneal Dystrophy, Groenouw Type I		Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Pandas		Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Mucous Membrane Pemphigoid		Corneal opacity	ORPHA:46486
Autosomal Recessive Spastic Paraplegia Type 69		Spastic dysarthria, Lower limb spasticity, Cataract, Hand tremor, Progressive spastic paraplegia	ORPHA:401830
Charcot-Marie-Tooth Disease, Type 4B1		Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials	OMIM:601382
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome		Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo...	ORPHA:1067
Aldh18A1-Related De Barsy Syndrome		Cataract	ORPHA:35664
Cataract 42		Cataract, Developmental cataract	OMIM:115900
Cataract 21, Multiple Types		Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Winchester Syndrome		Corneal opacity	OMIM:277950
Spinocerebellar Degeneration And Corneal Dystrophy		Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia	OMIM:271310
Lattice Corneal Dystrophy Type I		Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Galactosemia Iv		Cataract, Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Alpha-Methylacyl-Coa Racemase Deficiency		Spasticity, Tremor, Hypergonadotropic hypogonadism, Intention tremor, Hemiparesis, Ataxia, Abnorm...	OMIM:614307
Optic Atrophy 8		Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Morquio Syndrome C		Corneal opacity	OMIM:252300
Cataract 11, Multiple Types		Cataract, Chorea, Hypertonia, Developmental cataract	OMIM:610623
Stickler Syndrome Type 2		Cataract, Cleft palate, Corneal opacity	ORPHA:90654
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability		Hematuria, Bilateral cleft palate, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma	ORPHA:1473
Anterior Segment Dysgenesis 8		Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Thiel-Behnke Corneal Dystrophy		Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Bilateral Parasagittal Parieto-Occipital Polymicrogyria		Hearing impairment, Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Mucolipidosis Iv		Babinski sign, Corneal opacity, Dystonia, Hypergastrinemia, Spastic tetraplegia, Opacification of...	OMIM:252650
Mucolipidosis Type Iii		Abnormal heart valve morphology, Abnormal aortic valve morphology, Corneal opacity, Cleft palate	ORPHA:577
Gómez-López-Hernández Syndrome		Corneal opacity, Ataxia	ORPHA:1532
Hurler-Scheie Syndrome		Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Cornea...	ORPHA:93476
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant		Hypospadias, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Dilated cardio...	OMIM:618815
Microcephaly-Microcornea Syndrome, Seemanova Type		Cataract, Microcornea, Progressive spasticity, Hypogonadism	ORPHA:2528
X-Linked Corneal Dermoid		Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Ring Chromosome Y Syndrome		Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Galactosemia Ii		Cataract, Prolonged neonatal jaundice, Galactosuria	OMIM:230200
Trichomegaly		Cataract	OMIM:190330
Peroxisome Biogenesis Disorder 8A (Zellweger)		Jaundice, Hepatomegaly, Glossoptosis, Cataract, Ventricular septal defect	OMIM:614876
Dystonia 28, Childhood-Onset		Astigmatism, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial d...	OMIM:617284
Ring Dermoid Of Cornea		Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Autosomal Recessive Spastic Paraplegia Type 44		Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok...	ORPHA:320401
Ravine Syndrome		Anorexia, Abnormal auditory evoked potentials	ORPHA:99852
Childhood Disintegrative Disorder		Motor deterioration, Progressive language deterioration, Reduced social reciprocity, Dementia, Me...	ORPHA:168782
Larsen-Like Osseous Dysplasia-Short Stature Syndrome		Corneal opacity, Abnormal cardiac septum morphology	ORPHA:2370
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness		Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E...	OMIM:617519
Leukoencephalopathy With Vanishing White Matter 2		Cataract, Spasticity, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:620312
Congenital Rubella Syndrome		Hepatomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocytopenia...	ORPHA:290
Xeroderma Pigmentosum, Complementation Group G		Cataract, Spasticity, Tremor, Ataxia	OMIM:278780
Macular Dystrophy, Corneal		Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Sialidosis Type 2		Hepatomegaly, Tremor, Corneal opacity, Ataxia, Splenomegaly	ORPHA:87876
Bardet-Biedl Syndrome 18		Cataract, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Hypoalphalipoproteinemia, Primary, 2		Corneal arcus, Cataract	OMIM:618463
Xp22.3 Microdeletion Syndrome		Secondary amenorrhea, Opacification of the corneal stroma, Polycystic ovaries, Decreased fertilit...	ORPHA:1643
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay		Cataract, Developmental cataract	OMIM:613076
Spastic Paraplegia 46, Autosomal Recessive		Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Infertili...	OMIM:614409
Anterior Segment Dysgenesis 7		Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Erythrokeratodermia Variabilis		Cataract, Diabetes mellitus, Corneal opacity, Abnormal testis morphology	ORPHA:317
Syndromic Recessive X-Linked Ichthyosis		Acute leukemia, Unilateral renal agenesis, Corneal opacity, Abnormal stomach morphology, Renal in...	ORPHA:281090
Cataract 9, Multiple Types		Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
X-Linked Endothelial Corneal Dystrophy		Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Corneal Dystrophy, Reis-Bucklers Type		Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Hypogonadism-Cataract Syndrome		Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal...	OMIM:240950
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism		Cataract, Hypogonadism	OMIM:254000
Cataract-Ataxia-Deafness Syndrome		Hypertonia, Tremor, Developmental cataract, Ataxia	ORPHA:1368
Segawa Syndrome, Autosomal Recessive		Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome		Hypospadias, Aniridia, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str...	OMIM:194072
Corneal Dystrophy And Perceptive Deafness		Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Keratitis, Hereditary		Opacification of the corneal stroma, Keratitis	OMIM:148190
Spinocerebellar Ataxia, Autosomal Recessive 4		Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst...	OMIM:607317
4H Leukodystrophy		Delayed puberty, Decreased response to growth hormone stimulation test, Abnormality of thyroid ph...	ORPHA:289494
Galactose Epimerase Deficiency		Hepatomegaly, Jaundice, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Cornea Plana 2, Autosomal Recessive		Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea	OMIM:217300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome		Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Autosomal Recessive Spastic Paraplegia Type 46		Babinski sign, Abnormal sperm head morphology, Spastic dysarthria, Lower limb spasticity, Truncal...	ORPHA:320391
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome		Decreased testicular size, Cataract, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Harel-Yoon Syndrome		Spasticity, Corneal opacity, Dystonia, Developmental cataract, Ataxia	OMIM:617183
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome		Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced...	ORPHA:3077
Spinocerebellar Ataxia, Autosomal Recessive 16		Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Hypogonadism, Ankle clonus	OMIM:615768
Megalocornea		Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Corneal Dystrophy, Fuchs Endothelial, 3		Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions		Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome		Spastic gait, Delayed puberty, Spasticity, Corneal opacity, Gait ataxia, Cataract, Cryptorchidism	ORPHA:496790
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome		Cataract, Spasticity, Micropenis	OMIM:610156
Limbal Stem Cell Deficiency		Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar...	ORPHA:171673
Fish-Eye Disease		Lymphadenopathy, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:79292
Classic Galactosemia		Delayed puberty, Elevated circulating hepatic transaminase concentration, Incoordination, Action ...	ORPHA:79239
Alpha-Mannosidosis		Narrow palate, Hepatomegaly, Corneal opacity, Splenomegaly, Cataract, Macroglossia	ORPHA:61
Ovarian Dysgenesis 2		Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Hypergonadotropic Hypogonadism-Cataract Syndrome		Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second...	ORPHA:2410
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy		Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome		Chorea, Microcornea, Intention tremor, Ataxia, Abnormal pyramidal sign, Cataract, Hypogonadotropi...	ORPHA:48431
Cataract-Nephropathy-Encephalopathy Syndrome		Cataract, Renal tubular dysfunction	ORPHA:1380
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1		Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Dysdiadochokinesis, Gait atax...	OMIM:224050
Anterior Segment Dysgenesis 2		Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Thanatophoric Dysplasia, Glasgow Variant		Cataract, Hepatosplenomegaly, Anemia	OMIM:273680
Encephalopathy, Progressive, With Or Without Lipodystrophy		Hepatomegaly, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis	OMIM:615924
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia		Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome		Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Anal atresia, Tetralogy of Fall...	ORPHA:1381
Martsolf Syndrome 2		Cataract, Developmental cataract, Hypogonadotropic hypogonadism, Spastic diplegia	OMIM:619420
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome		Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy	ORPHA:1369
Laurence-Moon Syndrome		Hypoplasia of penis, Displacement of the urethral meatus, Ataxia, Type II diabetes mellitus, Cong...	ORPHA:2377
Parkinson Disease 15, Autosomal Recessive Early-Onset		Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Familial Pterygium Of The Conjunctiva		Opacification of the corneal stroma	ORPHA:2989
Hemolytic Anemia Due To Glutathione Reductase Deficiency		Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Keratoendotheliitis Fugax Hereditaria		Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Corneal Dystrophy, Posterior Polymorphous, 1		Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Hereditary Bullous Dystrophy, Macular Type		External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, Cryptorchidism	ORPHA:1867
Sialidosis Type 1		Tremor, Corneal opacity, Ataxia, Splenomegaly, Myoclonus, Cataract, Slurred speech	ORPHA:812
Gm1-Gangliosidosis, Type Iii		Hepatomegaly, Dystonia, Ataxia, Splenomegaly, Myoclonus, Opacification of the corneal stroma, Slu...	OMIM:230650
Atypical Pantothenate Kinase-Associated Neurodegeneration		Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia...	ORPHA:216873
Intellectual Developmental Disorder, X-Linked, Syndromic 13		Spastic gait, Babinski sign, Bradykinesia, Apraxia, Juvenile cataract, Resting tremor, Tremor, Sp...	OMIM:300055
Congenital Hereditary Endothelial Dystrophy Type Ii		Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Ichthyosis, X-Linked		Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Juvenile Sialidosis Type 2		Hepatomegaly, Visceromegaly, Corneal opacity, Protruding tongue, Abnormal heart morphology, Hepat...	ORPHA:93399
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements		Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Dystonia 3, Torsion, X-Linked		Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Ovarian Dysgenesis 9		Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Brachyolmia Type 1, Hobaek Type		Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Dyskinesia With Orofacial Involvement, Autosomal Recessive		Tremor, Frequent falls, Hypothyroidism, Dystonia, Myoclonus	OMIM:619647
Anterior Segment Dysgenesis 5		Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac...	OMIM:604229
Peroxisome Biogenesis Disorder 8B		Decreased liver function, Babinski sign, Hypertonia, Lower limb spasticity, Spasticity, Frequent ...	OMIM:614877
Exfoliation Syndrome		Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Adult-Onset Autosomal Recessive Cerebellar Ataxia		Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Intention tremor, Pro...	ORPHA:284289
Spastic Paraplegia 5A, Autosomal Recessive		Spastic gait, Babinski sign, Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Li...	OMIM:270800
Spinocerebellar Ataxia 40		Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare...	OMIM:616053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5		Cataract, Corneal opacity, Left ventricular hypertrophy	OMIM:613153
Peters Anomaly		Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Perrault Syndrome 4		Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Senior-Loken Syndrome		Cataract, Premature ovarian insufficiency, Ataxia, Congenital hepatic fibrosis	ORPHA:3156
Premature Ovarian Failure 5		Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar...	OMIM:611548
Galactose Mutarotase Deficiency		Cataract, Hepatomegaly, Cholestasis, Decreased liver function	ORPHA:570422
Autosomal Recessive Spastic Paraplegia Type 26		Babinski sign, Premature ovarian insufficiency, Lower limb spasticity, Decreased serum testostero...	ORPHA:101006
Ovarian Dysgenesis 10		Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f...	OMIM:619834
46,Xy Partial Gonadal Dysgenesis		Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Microphthalmia, Isolated 2		Opacification of the corneal stroma	OMIM:610093
Corneal Dystrophy, Meesmann, 1		Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Premature Ovarian Failure 18		Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl...	OMIM:619203
Alpha-Mannosidosis, Adult Form		Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Recurrent gastro...	ORPHA:309288
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development		Cataract, Cleft palate, Hematuria, Iris coloboma	OMIM:120433
Perrault Syndrome 6		Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Iris Pigment Layer, Cleavage Of		Cataract	OMIM:147610
Autosomal Dominant Keratitis		Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Posterior Polymorphous Corneal Dystrophy		Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Zellweger Syndrome		Hepatomegaly, Jaundice, Hypospadias, Corneal opacity, High palate, Pyloric stenosis, Posterior em...	ORPHA:912
Wagr Syndrome		Dysfunction of lateral corticospinal tracts, Displacement of the urethral meatus, Cataract, Ambig...	ORPHA:893
Spinocerebellar Ataxia, Autosomal Recessive 21		Limb ataxia, Hepatomegaly, Spasticity, Tremor, Frequent falls, Gait ataxia, Hepatic bridging fibr...	OMIM:616719
Microphthalmia/Coloboma 3		Cataract, Iris coloboma	OMIM:610092
Premature Ovarian Failure 6		Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Wilson Disease		Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Fuchs Endothelial Corneal Dystrophy		Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
46,Xx Gonadal Dysgenesis		Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas...	ORPHA:243
Multicentric Carpotarsal Osteolysis Syndrome		Stage 5 chronic kidney disease, Corneal opacity, Proteinuria, Renal insufficiency	OMIM:166300
Normosmic Congenital Hypogonadotropic Hypogonadism		Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Hypoplasia of the u...	ORPHA:432
Mohr-Tranebjaerg Syndrome		Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Cataract 47		Cataract, Glycosuria, Microcornea	OMIM:612018
3-Methylglutaconic Aciduria Type 4		3-Methylglutaconic aciduria, Cardiomyopathy, Iris hypopigmentation, Thrombocytopenia, Cataract	ORPHA:67048
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development		Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract	OMIM:152950
Late-Infantile/Juvenile Krabbe Disease		Irritability, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduct...	ORPHA:206443
Usher Syndrome Type 3		Cataract, Iris hypopigmentation, Astigmatism, Ataxia	ORPHA:231183
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2		Cataract, Enterocolitis, Nephrotic syndrome, Focal segmental glomerulosclerosis	OMIM:620425
Brittle Cornea Syndrome 2		Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Congenital Sialidosis Type 2		Hepatomegaly, Spasticity, Corneal opacity, Developmental cataract, Ataxia, Hepatosplenomegaly, My...	ORPHA:93400
Congenital Bile Acid Synthesis Defect Type 4		Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Trappc11-Related Limb-Girdle Muscular Dystrophy R18		Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chorea, Truncal ataxia, Ca...	ORPHA:369840
Sjogren-Larsson Syndrome		Opacification of the corneal epithelium, Spastic paraparesis, Spasticity, Astigmatism	OMIM:270200
Lowry-Maclean Syndrome		High, narrow palate, Atrioventricular canal defect, Developmental glaucoma, Hypospadias, Midgut m...	ORPHA:2409
Spastic Ataxia 2, Autosomal Recessive		Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head...	OMIM:611302
Fucosidosis		Abnormality of the gallbladder, Hepatomegaly, Spasticity, Corneal opacity, Hypothyroidism, Abnorm...	ORPHA:349
Granular Corneal Dystrophy Type Ii		Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Recessive X-Linked Ichthyosis		Opacification of the corneal stroma, Cryptorchidism	ORPHA:461
Scheie Syndrome		Hepatomegaly, Corneal opacity, Cerebral palsy, Splenomegaly, Spastic paraparesis	ORPHA:93474
Perrault Syndrome 3		Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Progressive Supranuclear Palsy-Corticobasal Syndrome		Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Osteoporosis-Pseudoglioma Syndrome		Isosexual precocious puberty, Corneal opacity	ORPHA:2788
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts		Cataract, Spasticity, Cryptorchidism, Hepatomegaly	OMIM:613730
Cataract 50 With Or Without Glaucoma		Cataract, Persistent pupillary membrane	OMIM:620253
Dystonia-Parkinsonism-Hypermanganesemia Syndrome		Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ...	ORPHA:521406
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset		Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Hypergonadotropic hypog...	OMIM:617145
Lcat Deficiency		Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ...	ORPHA:650
Charcot-Marie-Tooth Disease, Type 4D		Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Premature Ovarian Failure 10		Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ...	OMIM:612885
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis		Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Epithelial Recurrent Erosion Dystrophy		Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Fish-Eye Disease		Opacification of the corneal stroma	OMIM:136120
Alpha-1-Antitrypsin Deficiency		Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Bartsocas-Papas Syndrome 2		Popliteal pterygium, Axillary pterygium, Bilateral cleft palate, Corneal opacity, Antecubital pte...	OMIM:619339
Oculocerebral Hypopigmentation Syndrome, Cross Type		Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Corneal opacity, Iris hypopi...	ORPHA:2719
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract		Babinski sign, Spasticity, Subcapsular cataract, Intention tremor, Ataxia, Cataract, Dysmetria	OMIM:612674
Hemochromatosis, Type 4		Cirrhosis, Hepatomegaly, Impotence, Cataract, Diabetes mellitus, Hepatic steatosis	OMIM:606069
Ophthalmomandibulomelic Dysplasia		Corneal opacity, Megalocornea	ORPHA:2741
Hereditary Leiomyomatosis And Renal Cell Cancer		Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm	ORPHA:523
Basal Ganglia Calcification, Idiopathic, 1		Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li...	OMIM:213600
Anterior Segment Dysgenesis 6		Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Peroxisome Biogenesis Disorder 11B		Cataract, Hepatosplenomegaly	OMIM:614885
Granular Corneal Dystrophy Type I		Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Leydig Cell Hypoplasia		Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked		Astigmatism, Hepatomegaly, Hypospadias, Vesicoureteral reflux, Corneal opacity, Pulmonic stenosis...	OMIM:301056
Premature Ovarian Failure 8		Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm...	OMIM:615723
Microphthalmia With Brain And Digit Anomalies		Microcornea, Abnormality of the hypothalamus-pituitary axis, Sclerocornea, Cataract, Cryptorchidi...	ORPHA:139471
Stromme Syndrome		Accessory spleen, Duodenal atresia, Microcornea, Intestinal malrotation, Hydronephrosis, Scleroco...	OMIM:243605
Abcd Syndrome		Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok...	OMIM:600501
Galactokinase Deficiency		Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, ...	ORPHA:79237
Charcot-Marie-Tooth Disease, Type 4C		Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa...	OMIM:601596
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome		Tremor, Heterochromia iridis	ORPHA:66633
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome		Cataract, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Coats Disease		Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Joubert Syndrome 9		Cataract, Hepatic fibrosis, Astigmatism, Oculomotor apraxia	OMIM:612285
Corneal Dystrophy, Fuchs Endothelial, 1		Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Multiple Sulfatase Deficiency		Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Splenomegaly, Cataract	ORPHA:585
Hypogonadotropic Hypogonadism 25 With Anosmia		Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh...	OMIM:618841
Cystinosis		Delayed puberty, Corneal opacity, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroi...	ORPHA:213
Autosomal Dominant Optic Atrophy Plus Syndrome		Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud...	ORPHA:1215
Cronkhite-Canada Syndrome		Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo...	ORPHA:2930
Hepatoportal Sclerosis		Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari...	ORPHA:64743
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome		Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Pr...	OMIM:215250
Premature Ovarian Failure 21		Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho...	OMIM:620311
Obesity Due To Congenital Leptin Deficiency		Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Corneal Endothelial Dystrophy		Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Satoyoshi Syndrome		Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of...	ORPHA:3130
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay		Hyperkinetic movements, Corneal opacity	OMIM:620469
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of		Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Porphyria Due To Ala Dehydratase Deficiency		Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De...	ORPHA:100924
Galactosemia I		Decreased liver function, Premature ovarian insufficiency, Cirrhosis, Hepatomegaly, Elevated circ...	OMIM:230400
Fryns Syndrome		Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Duodenal atresia, Ectopic anus, Vesi...	ORPHA:2059
Norrie Disease		Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Obesity Due To Leptin Receptor Gene Deficiency		Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:179494
Parkinsonism-Dystonia 1, Infantile-Onset		Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Macular Corneal Dystrophy		Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1		Cataract, Microcornea	OMIM:619082
Cochleosaccular Degeneration-Cataract Syndrome		Cataract, Ataxia	ORPHA:3233
Amoebic Keratitis		Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Gelatinous Drop-Like Corneal Dystrophy		Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi...	ORPHA:98957
Tyrosinemia Type 2		Tremor, Corneal opacity, Ataxia	ORPHA:28378
Severe Neurodegenerative Syndrome With Lipodystrophy		Cirrhosis, Hyperinsulinemia, Hepatomegaly, Spasticity, Tremor, Poor motor coordination, Limb dyst...	ORPHA:363400
Bartsocas-Papas Syndrome		Ambiguous genitalia, Hypoplastic male external genitalia, Popliteal pterygium, Corneal opacity	ORPHA:1234
Short Syndrome		Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Wagro Syndrome		Hypoplastic female external genitalia, Aniridia, Corneal opacity, Decreased testicular size, Cata...	OMIM:612469
Weill-Marchesani Syndrome		Aortic valve stenosis, Pulmonic stenosis, Ectopia lentis, Cataract, Ventricular septal defect	ORPHA:3449
Mietens Syndrome		Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Corticobasal Syndrome		Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo...	ORPHA:454887
Mosaic Trisomy 9		Dextrocardia, Abnormal liver lobulation, Hypoplasia of penis, Abnormal heart valve morphology, Co...	ORPHA:99776
Spondylometaphyseal Dysplasia With Corneal Dystrophy		Corneal opacity	OMIM:618961
Brachyolmia Type 1, Toledo Type		Opacification of the corneal stroma, Increased urinary disaccharide excretion	OMIM:271630
Neuraminidase Deficiency		Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Urina...	OMIM:256550
Stiff Skin Syndrome		Cataract, Bicuspid aortic valve, Gastroesophageal reflux	OMIM:184900
45,X/46,Xy Mixed Gonadal Dysgenesis		Delayed puberty, Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Cervix cancer,...	ORPHA:1772
Spinocerebellar Ataxia 48		Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria	OMIM:618093
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations		Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Premature Ovarian Failure 9		Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati...	OMIM:615724
Frasier Syndrome		Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am...	ORPHA:347
Hypergonadotropic Hypogonadism And Partial Alopecia		Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome		Hypospadias, Esophageal atresia, Hypoplasia of penis, Tracheoesophageal fistula, Sclerocornea, Ve...	ORPHA:77298
Gm1 Gangliosidosis		Abnormality of extrapyramidal motor function, Decerebrate rigidity, Spasticity, Tremor, Corneal o...	ORPHA:354
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract		Cataract, Microcornea, Aniridia	OMIM:106230
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome		Cataract, Cryptorchidism, Hypogonadism	OMIM:601794
Spastic Paraplegia 9B, Autosomal Recessive		Babinski sign, Tetraplegia, Tremor, Spasticity, Spastic paraplegia, Cataract, Pseudobulbar paralysis	OMIM:616586
Schimke Immuno-Osseous Dysplasia		Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
46,Xy Sex Reversal 11		Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of...	OMIM:273250
Rutherfurd Syndrome		Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Pseudo-Torch Syndrome 1		Hepatomegaly, Jaundice, Patent foramen ovale, High palate, Thrombocytopenia, Splenomegaly, Catara...	OMIM:251290
Acute Bilirubin Encephalopathy		Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy...	ORPHA:529799
Chronic Bilirubin Encephalopathy		Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy...	ORPHA:529808
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia		Keratitis, Corneal opacity, Conjunctivitis	OMIM:602562
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome		Unilateral renal agenesis, Developmental glaucoma, Corneal opacity, Aniridia	ORPHA:1064
Serrated Polyposis Syndrome		Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Ne...	ORPHA:157798
3Q29 Microduplication Syndrome		Aniridia, Ectopic anus, High palate, Cleft palate, Sclerocornea, Cataract, Ventricular septal def...	ORPHA:251038
Hereditary Mucoepithelial Dysplasia		Hematuria, Anorectal anomaly, Corneal dystrophy, Furrowed tongue, Tracheoesophageal fistula, Cata...	ORPHA:1839
Mucolipidosis Type Iv		Corneal opacity, Ataxia	ORPHA:578
Hurler Syndrome		Hepatomegaly, Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Enlarged tons...	OMIM:607014
Congenital Disorder Of Glycosylation, Type Ij		Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Tremor, Cataract, ...	OMIM:608093
8Q21.11 Microdeletion Syndrome		Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cataract, Cryptorchidism	ORPHA:284160
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive		Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria...	OMIM:221900
Pyloric Atresia		Congenital pyloric atresia	OMIM:265950
Oculomaxillofacial Dysostosis		Cleft palate, Corneal opacity	ORPHA:1794
Walker-Warburg Syndrome		Hypoplasia of penis, Microcornea, Corneal opacity, Bifid uvula, Cleft palate, Cataract, Submucous...	ORPHA:899
Triokinase And Fmn Cyclase Deficiency Syndrome		Hepatomegaly, Pancreatitis, Cataract, Dilated cardiomyopathy, Hepatic steatosis, Microcytic anemia	OMIM:618805
Anterior Segment Dysgenesis 1		Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Hurler-Scheie Syndrome		Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Heparan sulfate...	OMIM:607015
Farber Disease		Elevated circulating hepatic transaminase concentration, Spasticity, Intrahepatic cholestasis wit...	ORPHA:333
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency		Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Oculocerebrocutaneous Syndrome		Hemiplegia/hemiparesis, Cryptorchidism, Corneal opacity, Iris coloboma	ORPHA:1647
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome		Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit...	ORPHA:2235
Multiple Sulfatase Deficiency		Hepatomegaly, Spasticity, Corneal opacity, Ataxia, Splenomegaly	OMIM:272200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2		Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin...	OMIM:615157
Complete Androgen Insensitivity Syndrome		Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno...	ORPHA:99429
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)		Involuntary movements, Abnormal pyramidal sign, Myoclonus, Cataract, Dysmetria	OMIM:619780
Atopic Keratoconjunctivitis		Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Autosomal Spastic Paraplegia Type 58		Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba...	ORPHA:397946
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism		Delayed puberty, Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Postural tremor, Hypogonado...	OMIM:607694
Congenital Tufting Enteropathy		Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec...	ORPHA:92050
Bronchogenic Cyst		Abnormal peritoneum morphology, Abnormal esophagus morphology, Abnormal pericardium morphology, A...	ORPHA:2357
Leukodystrophy, Hypomyelinating, 13		Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time	OMIM:616881
Dyschondrosteosis-Nephritis Syndrome		Hematuria, Corneal opacity, Proteinuria, Nephropathy	ORPHA:1765
Cardiomyopathy, Dilated, 1Ii		Cataract, Dilated cardiomyopathy	OMIM:615184
Ectodermal Dysplasia-Blindness Syndrome		Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
46,Xy Sex Reversal 7		Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P...	OMIM:233420
Perrault Syndrome 2		Amenorrhea, Streak ovary	OMIM:614926
Leukodystrophy, Hypomyelinating, 5		Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ...	OMIM:610532
Classic Phenylketonuria		Hypertonia, Paraplegia, Tremor, Cataract, Hemiplegia	ORPHA:79254
Partial Androgen Insensitivity Syndrome		Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Linear Skin Defects With Multiple Congenital Anomalies 1		Hypospadias, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventricular septal defect, Anal...	OMIM:309801
Autoimmune Polyendocrinopathy Type 1		Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Axenfeld-Rieger Syndrome, Type 2		Anal stenosis, Hypospadias, Microcornea, Abnormal heart morphology, Opacification of the corneal ...	OMIM:601499
Peroxisome Biogenesis Disorder 2A (Zellweger)		Hepatomegaly, Jaundice, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Hypoplasia ...	OMIM:214110
Cadds		Elevated circulating hepatic transaminase concentration, Cholangitis, Adrenal hypoplasia, Cholest...	ORPHA:369942
Scheie Syndrome		Aortic valve stenosis, Mitral stenosis, Corneal opacity	OMIM:607016
Hypermanganesemia With Dystonia 1		Bradykinesia, Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:613280
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1		Bradykinesia, Premature ovarian insufficiency, Resting tremor, Secondary amenorrhea, Parkinsonism...	OMIM:157640
Tangier Disease		Opacification of the corneal stroma, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Aniridia 2		Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Galactosialidosis		Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly	OMIM:256540
Early-Onset Autosomal Dominant Alzheimer Disease		Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Dementia	ORPHA:1020
Polyposis of gastric fundus without polyposis coli		Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Osteosclerosis With Ichthyosis And Premature Ovarian Failure		Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Autoinflammation, Antibody Deficiency, And Immune Dysregulation		Corneal erosion, Decreased proportion of class-switched memory B cells, Enterocolitis, Cataract, ...	OMIM:614878
Sanjad-Sakati Syndrome		Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Corneal opac...	ORPHA:2323
Griscelli Syndrome		Hepatomegaly, Jaundice, Lymphadenopathy, Pyloric stenosis, Bone marrow hypocellularity, Iris hypo...	ORPHA:381
Generalized Eruptive Keratoacanthoma		Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Mucopolysaccharidosis Type 7		Mucopolysacchariduria, Corneal opacity, Splenomegaly, Hepatitis	ORPHA:584
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities		Patent foramen ovale, Corneal opacity, Right atrial enlargement, Pericardial effusion, Myocardial...	OMIM:620519
Myopia 28, Autosomal Recessive		Cataract	OMIM:619781
3-Methylglutaconic Aciduria Type 7		Hypertonia, Elevated circulating hepatic transaminase concentration, Abnormality of extrapyramida...	ORPHA:445038
Hypoparathyroidism, Familial Isolated, 1		Cataract, Chvostek sign, Decreased circulating parathyroid hormone level, Hypoparathyroidism	OMIM:146200
Neurodegeneration With Brain Iron Accumulation 3		Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,...	OMIM:606159
Microphthalmia, Syndromic 16		Sclerocornea	OMIM:611038
Intrinsic Factor Deficiency		Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs...	OMIM:261000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities		Limb hypertonia, Fasciculations, Tremor, Exaggerated startle response, Cataract, Cryptorchidism	OMIM:620327
Persistent Hyperplastic Primary Vitreous		Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen...	ORPHA:91495
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome		Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati...	ORPHA:2232
Chromosome 6Pter-P24 Deletion Syndrome		Ocular anterior segment dysgenesis, Patent foramen ovale, Axenfeld anomaly, Ventricular septal de...	OMIM:612582
Distal Deletion 6P		Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Cutis Laxa, Autosomal Dominant 3		Developmental cataract, Corneal opacity, Unilateral renal agenesis	OMIM:616603
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome		Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res...	ORPHA:3240
Congenital Disorder Of Deglycosylation 1		Hyperkinetic movements, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Co...	OMIM:615273
Congenital Primary Aphakia		Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C...	ORPHA:83461
Primary Dystonia, Dyt2 Type		Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener...	ORPHA:99657
Familial Dysautonomia		Corneal erosion, Gastroesophageal reflux, Abnormal peritoneum morphology, Corneal opacity, Hetero...	ORPHA:1764
Wolfram Syndrome 1		Diabetes insipidus, Tremor, Hypothyroidism, Ataxia, Cataract, Diabetes mellitus, Testicular atrophy	OMIM:222300
Gaucher Disease, Type Iiic		Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Spastic Paraplegia 9A, Autosomal Dominant		Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Resting tremor, Gait ataxia, S...	OMIM:601162
Microphthalmia/Coloboma 9		Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma	OMIM:615145
Dystonia-Deafness Syndrome 1		Generalized dystonia, Leg dystonia, Oculogyric crisis, Cataract, Pseudobulbar paralysis	OMIM:607371
Mucolipidosis Type Iii Alpha/Beta		Keratan sulfate excretion in urine, Oligosacchariduria, Corneal opacity, Right ventricular hypert...	ORPHA:423461
Mucopolysaccharidosis Type 1		Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormality of the tonsils, Co...	ORPHA:579
Spinal And Bulbar Muscular Atrophy, X-Linked 1		Fasciculations, Tremor, Decreased fertility, Testicular atrophy	OMIM:313200
Hurler Syndrome		Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Cornea...	ORPHA:93473
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis		Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:619260
Mucopolysaccharidosis, Type Ivb		Hepatomegaly, Keratan sulfate excretion in urine, Corneal opacity, Aortic valve stenosis, Chondro...	OMIM:253010
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development		Opacification of the corneal stroma	OMIM:204850
Olmsted Syndrome 1		Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Ectopia Lentis Et Pupillae		Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Tangier Disease		Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange ...	ORPHA:31150
Mucopolysaccharidosis, Type Vii		Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Corneal opacity, Dermatan sulfate ...	OMIM:253220
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities		Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Proximal Myotonic Myopathy		Cataract	ORPHA:606
Amyloidosis, Finnish Type		Cardiac amyloidosis, Cardiomyopathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis,...	OMIM:105120
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia		Congenital pyloric atresia	OMIM:612138
Aniridia-Intellectual Disability Syndrome		Cataract, Ectopia lentis, Aniridia	ORPHA:1068
Aniridia-Absent Patella Syndrome		Cataract, Cryptorchidism, Aniridia	ORPHA:1069
Epidermolysis Bullosa Dystrophica, Autosomal Recessive		Anemia, Corneal scarring, Abnormal esophagus morphology, Spontaneous esophageal perforation, Dysp...	OMIM:226600
Mosaic Variegated Aneuploidy Syndrome		Intestinal polyposis, Stomach cancer, Corneal opacity, Acute lymphoblastic leukemia, Cleft palate...	ORPHA:1052
3-Methylglutaconic Aciduria, Type Viib		Hyperkinetic movements, Spasticity, Tremor, Zonular cataract, Dystonia, Ataxia, Opisthotonus, Myo...	OMIM:616271
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1		Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypocellularity, Enterocoliti...	OMIM:301108
Wilson Disease		Sunflower cataract, Portal fibrosis, Parkinsonism with favorable response to dopaminergic medicat...	OMIM:277900
Chronic Intestinal Pseudoobstruction		Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho...	ORPHA:2978
Mucopolysaccharidosis Type 3		Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Recurrent tonsillitis, Corneal opac...	ORPHA:581
Ichthyosis, Congenital, Autosomal Recessive 11		Corneal opacity	OMIM:602400
Al-Gazali Syndrome		Sclerocornea, Corneal opacity, Hydronephrosis	OMIM:609465
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome		Hypospadias, Microcornea, Precocious puberty, Sclerocornea, Ectopia pupillae, Cataract	OMIM:615877
Fabry Disease		Abnormal endocardium morphology, Cornea verticillata, Abnormal aortic valve morphology, Hematuria...	ORPHA:324
Brittle Cornea Syndrome 1		Keratoglobus, Keratoconus, Decreased corneal thickness, Mitral valve prolapse, Abnormal cornea mo...	OMIM:229200
Isolated Aniridia		Cataract, Peters anomaly, Aniridia	ORPHA:250923
Rodrigues Blindness		Microcornea, Sclerocornea	OMIM:268320
Parkinson Disease 2, Autosomal Recessive Juvenile		Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait...	OMIM:600116
Microphthalmia/Coloboma 12		Peters anomaly, Corneal opacity, Vesicoureteral reflux	OMIM:120200
Focal Dermal Hypoplasia		Iris coloboma, Gastroesophageal reflux, Duodenal atresia, Corneal opacity, Hypoplasia of the iris...	ORPHA:2092
Warburg Micro Syndrome 2		Microcornea, Cataract, Developmental cataract, Small scrotum, Cryptorchidism, Micropenis, Spastic...	OMIM:614225
Alport Syndrome 2, Autosomal Recessive		Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata...	OMIM:203780
Encephalocraniocutaneous Lipomatosis		Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermoid, Atrial septa...	OMIM:613001
Parkinsonism-Dystonia 3, Childhood-Onset		Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism	OMIM:619738
Systemic Sclerosis		Myocarditis, Acute kidney injury, Abnormal stomach morphology, Abnormality of the gastrointestina...	ORPHA:90291
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8		Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Lissencephaly Syndrome, Norman-Roberts Type		Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Dysphagia	ORPHA:89844
Woodhouse-Sakati Syndrome		Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,...	ORPHA:3464
Nasopalpebral Lipoma-Coloboma Syndrome		Cataract, Conjunctival hyperemia, Corneal opacity	ORPHA:2399
Vernal Keratoconjunctivitis		Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Ophthalmomandibulomelic Dysplasia		Opacification of the corneal stroma, Megalocornea	OMIM:164900
Dystonia 13, Torsion, Autosomal Dominant		Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Mucopolysaccharidosis Type 6		Abnormal heart valve morphology, Mucopolysacchariduria, Splenomegaly, Opacification of the cornea...	ORPHA:583
3Mc Syndrome 3		Penoscrotal hypospadias, Corneal opacity, Bifid scrotum, Cryptorchidism, Micropenis	OMIM:248340
Kufor-Rakeb Syndrome		Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res...	OMIM:606693
Premature Ovarian Failure 7		Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ...	OMIM:612964
Gracile Bone Dysplasia		Aniridia, Ankyloglossia, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy		Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Bardet-Biedl Syndrome		Hydrometrocolpos, Astigmatism, Elevated circulating hepatic transaminase concentration, Aplasia/H...	ORPHA:110
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome		Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit...	OMIM:618877
Microgastria-Limb Reduction Defect Syndrome		Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Tr...	ORPHA:2538
Schimmelpenning-Feuerstein-Mims Syndrome		Precocious puberty, Corneal opacity	OMIM:163200
Trichothiodystrophy 3, Photosensitive		Meckel diverticulum, Pyloric stenosis, Developmental cataract, Lymphopenia, Cataract, Neutropenia	OMIM:616395
Infantile Krabbe Disease		Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Decrease...	ORPHA:206436
Lymphedema-Hypoparathyroidism Syndrome		Renal insufficiency, Pulmonary lymphangiectasia, Mitral valve prolapse, Cataract, Nephropathy	OMIM:247410
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia		Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Ke...	OMIM:240300
Dyrk1A-Related Intellectual Disability Syndrome		Astigmatism, Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, Pelvic kidney, Corn...	ORPHA:464306
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism		Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Abnormal...	OMIM:614381
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18		Hyperkinetic movements, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ch...	OMIM:615356
Mucoepithelial Dysplasia, Hereditary		Corneal neovascularization, Hematuria, Melena, Keratoconjunctivitis, Furrowed tongue, Eosinophili...	OMIM:158310
Oculoauricular Syndrome		Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D...	OMIM:612109
Autoimmune Polyendocrine Syndrome, Type Ii		Cirrhosis, Band keratopathy, Keratoconjunctivitis, Asplenia, Hypothyroidism, Chronic hepatitis, P...	OMIM:269200
Meckel Syndrome		Situs inversus totalis, Ureteral duplication, Accessory spleen, Microcornea, Pancreatic cysts, Fu...	ORPHA:564
Vitreoretinal Degeneration, Snowflake Type		Cataract, Corneal guttata	OMIM:193230
Mucopolysaccharidosis Type 4		Mucopolysacchariduria, Abnormal heart valve morphology, Corneal opacity	ORPHA:582
De Barsy Syndrome		Progressive cerebellar ataxia, Athetosis, Corneal opacity, Cataract, Cryptorchidism	ORPHA:2962
Aniridia 3		Cataract, Aniridia	OMIM:617142
46,Xy Sex Reversal 3		Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
X-Linked Alport Syndrome-Diffuse Leiomyomatosis		Esophageal neoplasm, Hematuria, Gastroesophageal reflux, Abnormal gastrointestinal tract morpholo...	ORPHA:1018
Classic Progressive Supranuclear Palsy Syndrome		Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav...	ORPHA:240071
Gomez-Lopez-Hernandez Syndrome		Decreased response to growth hormone stimulation test, Opacification of the corneal stroma, Hyper...	OMIM:601853
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation		Astigmatism, Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, Pelvic kidney, Corn...	ORPHA:464311
Dermochondrocorneal Dystrophy		Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Histiocytoid Cardiomyopathy		Hepatomegaly, Corneal opacity, Megalocornea, Congenital aphakia, Hemiplegia, Polycystic ovaries	ORPHA:137675
Hardikar Syndrome		Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m...	OMIM:301068
Aniridia 1		Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul...	OMIM:106210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies		Babinski sign, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Spasticity, Corne...	OMIM:175780
Norrie Disease		Delayed puberty, Hypertonia, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Corneal opacit...	ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1		Peters anomaly, Hypoplastic male external genitalia, Corneal opacity, Megalocornea, Cataract, Bup...	OMIM:236670
Kindler Epidermolysis Bullosa		Anemia, Phimosis, Corneal opacity, Abnormality of the anus, Esophagitis, Conjunctivitis, Inflamma...	ORPHA:2908
Lathosterolosis		Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Microcornea, Myoclonus, Cataract, Op...	ORPHA:46059
Atypical Progressive Supranuclear Palsy Syndrome		Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr...	ORPHA:99750
Carpenter Syndrome 1		Transposition of the great arteries, Hydroureter, Microcornea, High palate, Pulmonic stenosis, Hy...	OMIM:201000
Ménétrier Disease		Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc...	ORPHA:2494
Genitourinary And/Or Brain Malformation Syndrome		Gonadal dysgenesis, Clitoral hypertrophy, Astigmatism, Hypospadias, Urogenital sinus anomaly, Cry...	OMIM:618820
Thrombocytopenia-Absent Radius Syndrome		Atrioventricular canal defect, Ureteral duplication, Anemia, Meckel diverticulum, Vesicoureteral ...	OMIM:274000
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome		Absence of labia majora, Hypospadias, Corneal dystrophy, Hypoplastic labia minora, Corneal opacit...	ORPHA:495875
Parkinson Disease 17		Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Reynolds Syndrome		Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa m...	ORPHA:779
Ornithine Transcarbamylase Deficiency		Pyloric stenosis, Aminoaciduria, Splenomegaly	ORPHA:664
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome		Anemia, Cholelithiasis, Pancytopenia, Bacterial endocarditis, Esophageal varix, Corneal opacity, ...	ORPHA:2072
Pearson Syndrome		Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol...	ORPHA:699
Joubert Syndrome With Hepatic Defect		Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Oculomotor apra...	ORPHA:1454
Agel Amyloidosis		Corneal ulceration, Xerostomia, Cardiomyopathy, Abnormal spleen morphology, Lattice corneal dystr...	ORPHA:85448
Ciliary Dyskinesia, Primary, 53		Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen...	OMIM:620642
Encephalocraniocutaneous Lipomatosis		Hypertonia, Tetraplegia, Spasticity, Corneal opacity, Rigidity, Hemiparesis, Paralysis, Hemiplegi...	ORPHA:2396
Aniridia And Absent Patella		Cataract, Aniridia	OMIM:106220
Parkinson Disease 14, Autosomal Recessive		Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus...	OMIM:612953
Insensitivity To Pain, Congenital, With Anhidrosis		Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the...	OMIM:256800
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type		Opacification of the corneal stroma	OMIM:601356
Mosaic Trisomy 8		Vesicoureteral reflux, High palate, Corneal opacity, Hydronephrosis, Cleft palate	ORPHA:96061
Dubin-Johnson Syndrome		Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit...	ORPHA:234
Cerebrotendinous Xanthomatosis		Optic atrophy, Agitation, Decreased nerve conduction velocity, Aggressive behavior, Depression, A...	ORPHA:909
Charcot-Marie-Tooth Disease Type 1F		Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab...	ORPHA:101085
Transketolase Deficiency		Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal hear...	ORPHA:488618
Microphthalmia, Syndromic 3		Hypospadias, Anterior pituitary hypoplasia, Sclerocornea, Cataract, Cryptorchidism, Micropenis, H...	OMIM:206900
Aceruloplasminemia		Limb ataxia, Torticollis, Abnormal pancreas morphology, Chorea, Tremor, Blepharospasm, Craniofaci...	ORPHA:48818
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy		Lens subluxation, Corneal opacity, Ectopia pupillae, Increased hepatic echogenicity	OMIM:608940
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked		Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr...	OMIM:300048
Peroxisome Biogenesis Disorder 5A (Zellweger)		Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Athet...	OMIM:614866
Gaucher Disease		Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Abnormal heart valve mo...	ORPHA:355
Chromosome 8Q21.11 Deletion Syndrome		Cataract, Cryptorchidism, Micropenis, Sclerocornea	OMIM:614230
Knobloch Syndrome		Dextrocardia, Vesicoureteral reflux, Pyloric stenosis, Ectopia lentis, Lymphangioma, Bifid ureter...	ORPHA:1571
Arthrogryposis, Distal, Type 2A		Hearing impairment, Abnormal auditory evoked potentials	OMIM:193700
Diethylstilbestrol Syndrome		Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe...	ORPHA:1916
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy		Cataract, Buphthalmos, Corneal scarring, Iris coloboma	OMIM:212550
Mucopolysaccharidosis, Type Vi		Hepatomegaly, Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Mitral stenos...	OMIM:253200
Adult-Onset Autosomal Dominant Leukodystrophy		Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A...	ORPHA:99027
Xeroderma Pigmentosum, Complementation Group D		Corneal neovascularization, Spasticity, Keratitis, Ataxia, Conjunctivitis, Cataract, Choreoatheto...	OMIM:278730
Oculogastrointestinal Muscular Dystrophy		Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Abnormal gastric mucosa...	ORPHA:1876
Peroxisome Biogenesis Disorder 1A (Zellweger)		High, narrow palate, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, High palate, Pro...	OMIM:214100
Mucopolysaccharidosis Type 2, Severe Form		Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Cardiomyopathy, Corneal opa...	ORPHA:217085
Kallmann Syndrome		Delayed puberty, Breast hypoplasia, Decreased fertility, Erectile dysfunction, Anterior hypopitui...	ORPHA:478
Incontinentia Pigmenti		Spasticity, Corneal opacity, Hemiplegia/hemiparesis, Keratitis, Cataract, Supernumerary nipple	ORPHA:464
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency		Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency		Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia		Urethrovesical occlusion, Axillary pterygium, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Alpha-Mannosidosis, Infantile Form		Astigmatism, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Rec...	ORPHA:309282
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency		Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
Mucopolysaccharidosis Type 2, Attenuated Form		Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Cardiomyopathy, Corneal opa...	ORPHA:217093
Limb Body Wall Complex		Ectopia cordis, Abnormal intestine morphology, Corneal opacity, Ventricular septal defect, Abnorm...	ORPHA:2369
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects		Hypertonia, Jaundice, Hepatomegaly, Spasticity, Ataxia, Splenomegaly, Cataract, Nuclear cataract	OMIM:608885
Microphthalmia, Syndromic 5		Microcornea, Cataract, Cryptorchidism, Micropenis, Ectopic posterior pituitary	OMIM:610125
Nk-Cell Enteropathy		Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo...	ORPHA:263665
Adult Krabbe Disease		Delayed brainstem auditory evoked response conduction time, EEG abnormality	ORPHA:206448
Schimke Immunoosseous Dysplasia		Abnormal T cell morphology, Astigmatism, Anemia, Pancytopenia, Focal segmental glomerulosclerosis...	OMIM:242900
Tbck-Related Intellectual Disability Syndrome		High, narrow palate, Neurogenic bladder, Corneal opacity, Pulmonic stenosis, Ventricular septal d...	ORPHA:488632
Microphthalmia With Linear Skin Defects Syndrome		Epispadias, Tricuspid valve prolapse, Hypospadias, Corneal opacity, Abnormal rectum morphology, H...	ORPHA:2556
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome		Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Mucopolysaccharidosis Type 2		Hepatomegaly, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Cardiomyopath...	ORPHA:580
Alg9-Cdg		Hepatomegaly, Torticollis, Lower limb spasticity, Periportal fibrosis, Hypoplasia of the ovary, H...	ORPHA:79328
Chime Syndrome		Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Corneal opacity, Hy...	ORPHA:3474
Mednik Syndrome		Cirrhosis, Cholestasis, Microcolon, Volvulus, Cataract, Hepatic fibrosis, Jejunal atresia	OMIM:609313
Mayer-Rokitansky-Kuster-Hauser Syndrome		Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Multiple System Atrophy 1, Susceptibility To		Bradykinesia, Babinski sign, Tremor, Iris atrophy, Impotence, Rigidity, Ataxia, Parkinsonism	OMIM:146500
Moebius Syndrome		Corneal opacity, Hypogonadotropic hypogonadism, Breast aplasia	ORPHA:570
Leiomyomatosis, Diffuse, With Alport Syndrome		Lenticonus, Hematuria, Renal insufficiency, Nephropathy, Microscopic hematuria, Abnormal renal ph...	OMIM:308940
Hyperferritinemia With Or Without Cataract		Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Williams Syndrome		Hypoplasia of penis, Corneal opacity, Tracheoesophageal fistula, Pulmonic stenosis, Nephrocalcino...	ORPHA:904
Autosomal Dominant Spastic Paraplegia Type 9A		Spastic gait, Babinski sign, Spastic dysarthria, Tremor, Lower limb hypertonia, Developmental cat...	ORPHA:447753
Spondyloepiphyseal Dysplasia, Maroteaux Type		Mucopolysacchariduria, Opacification of the corneal stroma	OMIM:184095
Gorlin-Chaudhry-Moss Syndrome		Astigmatism, Sclerocornea	ORPHA:2095
Gm2 Gangliosidosis, Ab Variant		Inappropriate behavior, Abnormal fear-induced behavior	ORPHA:309246
Microcephalic Primordial Dwarfism, Montreal Type		Congenital pyloric atresia	ORPHA:2617
Neurocardiofaciodigital Syndrome		Double inlet left ventricle, Vesicoureteral reflux, High palate, Sclerocornea, Tetralogy of Fallo...	OMIM:619869
Multicentric Osteolysis, Nodulosis, And Arthropathy		Peripheral opacification of the cornea, Corneal opacity, Mitral valve prolapse	OMIM:259600
Cockayne Syndrome Type 1		Optic atrophy, Absent brainstem auditory responses, Increased blood urea nitrogen, Hearing impair...	ORPHA:90321
Traboulsi Syndrome		Spherophakia, Homocystinuria, Phakodonesis, Iris atrophy, High palate, Ectopia lentis, Shallow an...	OMIM:601552
Pelvis-Shoulder Dysplasia		Opacification of the corneal stroma, Iris coloboma	OMIM:169550
Mucolipidosis Iii Gamma		Aortic valve stenosis, Opacification of the corneal stroma, Mucopolysacchariduria	OMIM:252605
Mirage Syndrome		Anemia, Hypospadias, Gastroesophageal reflux, Microphallus, Hypoplastic spleen, Leukopenia, Throm...	OMIM:617053
Peters Plus Syndrome		Ureteral duplication, Hypospadias, Abnormal cardiac septum morphology, Microcornea, Corneal opaci...	ORPHA:709
Mucolipidosis Iii Alpha/Beta		Hepatomegaly, Cardiomyopathy, Mucopolysacchariduria, Hyperopic astigmatism, Opacification of the ...	OMIM:252600
Ablepharon Macrostomia Syndrome		Breast hypoplasia, Abnormal female external genitalia morphology, Corneal erosion, Hypoplasia of ...	ORPHA:920
Mend Syndrome		Hyperactivity, Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elev...	ORPHA:401973
Spondylodysplastic Ehlers-Danlos Syndrome		Posterior subcapsular cataract, Abnormal heart valve morphology, Corneal opacity, Megalocornea, P...	ORPHA:536471
Autosomal Dominant Optic Atrophy And Cataract		Posterior subcapsular cataract, Posterior cortical cataract, Resting tremor, Extrapyramidal muscu...	ORPHA:67036
Premature Aging Syndrome, Penttinen Type		Elevated circulating thyroid-stimulating hormone concentration, Corneal stromal edema, Corneal op...	OMIM:601812
Mucopolysaccharidosis, Type Iva		Hepatomegaly, Keratan sulfate excretion in urine, Abnormal heart valve morphology, Chondroitin su...	OMIM:253000
Phace Syndrome		Abnormal cardiac septum morphology, Heterochromia iridis, Abnormal heart morphology, Sclerocornea...	ORPHA:42775
Mullerian Aplasia And Hyperandrogenism		Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen...	OMIM:158330
Microphthalmia, Syndromic 9		Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Pulmonic steno...	OMIM:601186
Congenital Tracheal Stenosis		Duodenal atresia, Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophag...	ORPHA:141127
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome		Cleft palate, Corneal opacity, Microglossia	ORPHA:364577
Trisomy 10P		Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot...	ORPHA:171929
Gerstmann-Straussler Disease		Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa...	OMIM:137440
Smith-Lemli-Opitz Syndrome		Atrioventricular canal defect, Abnormality of the gallbladder, Hypospadias, Aganglionic megacolon...	ORPHA:818
Oculocerebrorenal Syndrome Of Lowe		Narrow palate, Aminoaciduria, Hematuria, Anemia, Gastroesophageal reflux, Hypercalciuria, Corneal...	ORPHA:534
Galloway-Mowat Syndrome 1		High palate, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, Prot...	OMIM:251300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease		Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ...	OMIM:609136
Xeroderma Pigmentosum		Pterygium, Abnormality of extrapyramidal motor function, Spasticity, Decreased testicular size, C...	ORPHA:910
Fryns Syndrome		Ureteral duplication, Aganglionic megacolon, Hypospadias, Esophageal atresia, Meckel diverticulum...	OMIM:229850
Proboscis Lateralis		Unilateral renal agenesis, Microcornea, Corneal opacity, High palate, Ureteral agenesis, Cataract...	ORPHA:141099
Linear Skin Defects With Multiple Congenital Anomalies 3		Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Sclerocornea	OMIM:300952
Robin Sequence With Distinctive Facial Appearance And Brachydactyly		Ventricular septal hypertrophy, High palate, Corneal opacity, Exaggerated median tongue furrow, C...	OMIM:608670
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus		Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati...	ORPHA:572333
Ataxia-Telangiectasia		Delayed puberty, Progressive cerebellar ataxia, Dysdiadochokinesis, Abnormal spermatogenesis, Tre...	OMIM:208900
Cataract 5, Multiple Types		Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Alagille Syndrome 1		Cholestasis, Prolonged neonatal jaundice, Stage 5 chronic kidney disease, Renal tubular acidosis,...	OMIM:118450
Mogs-Cdg		Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality...	ORPHA:79330
Autosomal Dominant Cutis Laxa		Unilateral renal agenesis, Corneal opacity, Developmental cataract, Bladder diverticulum, Dilatat...	ORPHA:90348
Metachromatic Leukodystrophy		Abnormal stomach morphology, Urinary incontinence, Hemobilia, Abnormal duodenum morphology, Neopl...	ORPHA:512
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency		Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Mosaic Trisomy 1		Penile hypospadias, Renal cortical cysts, Renal cyst, Cleft palate, Hepatic agenesis, Opacificati...	ORPHA:1692
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form		Smooth tongue, Corneal opacity, Anemia	ORPHA:79396
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2		Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Gait ataxia, Conjunctival telangiectasia, Head t...	OMIM:606002
Neurofibromatosis Type 1		Delayed puberty, Abnormality of the endocrine system, Pheochromocytoma, Corneal opacity, Heteroch...	ORPHA:636
Jacobsen Syndrome		Annular pancreas, Iris coloboma, Duodenal atresia, Microcornea, Ectopic anus, Aortic valve stenos...	ORPHA:2308
Oculoectodermal Syndrome		Astigmatism, Microcornea, Hypertrophic cardiomyopathy, Bladder exstrophy, Limbal dermoid, Atrial ...	OMIM:600268
Leopard Syndrome 1		Delayed puberty, Hypospadias, Hypoplasia of the ovary, Delayed menarche, Cryptorchidism, Micropen...	OMIM:151100
Pituitary Adenoma 4, Acth-Secreting		Emotional lability, Abnormal fear-induced behavior, Hypokalemia	OMIM:219090
Larsen Syndrome		Atrial septal defect, Ventricular septal defect, Corneal opacity, Cleft palate	OMIM:150250
Fraser Syndrome 1		Hypospadias, Corneal opacity, Renal hypoplasia, Abnormal heart morphology, Cleft palate, Abnormal...	OMIM:219000
Wiedemann-Rautenstrauch Syndrome		Hypertonia, Decreased response to growth hormone stimulation test, Hypospadias, Limb hypertonia, ...	ORPHA:3455
Stormorken Syndrome		Hematuria, Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Cockayne Syndrome A		Hepatomegaly, Tremor, Thymic hormone decreased, Ataxia, Splenomegaly, Hypogonadism, Cataract, Opa...	OMIM:216400
Wolf-Hirschhorn Syndrome		Abnormality of the gallbladder, Hypospadias, Megalocornea, Sclerocornea, Ataxia, Cryptorchidism, ...	ORPHA:280
Junctional Epidermolysis Bullosa With Pyloric Atresia		Hematuria, Pterygium, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Urethral stricture...	ORPHA:79403
Cockayne Syndrome B		Hepatomegaly, Microcornea, Tremor, Hypoplasia of the iris, Developmental cataract, Ataxia, Spleno...	OMIM:133540
Renal And Mullerian Duct Hypoplasia		Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
46,Xx Sex Reversal 2		Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes...	OMIM:278850
Apolipoprotein A-I Deficiency		Opacification of the corneal stroma	ORPHA:425
Chronic Granulomatous Disease		Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type		Stage 5 chronic kidney disease, Corneal crystals, Proteinuria	OMIM:219900
Spondyloepiphyseal Dysplasia Tarda, X-Linked		Opacification of the corneal stroma	OMIM:313400
Digeorge Syndrome		High, narrow palate, Anemia, Unilateral renal agenesis, Cholelithiasis, Cleft palate, Gastroesoph...	OMIM:188400
Pontocerebellar Hypoplasia Type 7		Gonadal dysgenesis, Clitoral hypertrophy, Hypertonia, Abnormal scrotal rugation, Fasciculations, ...	ORPHA:284339
Ocular Cystinosis		Corneal crystals	ORPHA:411641
Mucolipidosis Ii Alpha/Beta		Enlarged kidney, Hepatomegaly, Megalocornea, Hypertrophic cardiomyopathy, Mucopolysacchariduria, ...	OMIM:252500
Woodhouse-Sakati Syndrome		Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Testicular Agenesis		Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s...	ORPHA:325124
Mayer-Rokitansky-Küster-Hauser Syndrome		Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima...	ORPHA:3109
Bartsocas-Papas Syndrome 1		Popliteal pterygium, Axillary pterygium, Hypoplastic labia majora, Pterygium, Corneal ulceration,...	OMIM:263650
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency		Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Hydatidiform Mole		Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Cystinosis, Adult Nonnephropathic		Corneal crystals	OMIM:219750
Yunis-Varon Syndrome		High, narrow palate, Cardiomegaly, Hypospadias, Cardiomyopathy, Renal artery stenosis, Glossoptos...	ORPHA:3472
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia		Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Hereditary Acrokeratotic Poikiloderma		Abnormality of the gastrointestinal tract, Abnormal preputium morphology, Keratoconjunctivitis, A...	ORPHA:2907
Alpha-N-Acetylgalactosaminidase Deficiency Type 2		Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Knobloch Syndrome 1		Iris transillumination defect, Band keratopathy, Persistent pupillary membrane, Pyloric stenosis,...	OMIM:267750
Schinzel-Giedion Syndrome		Hypertonia, Annular pancreas, Hypospadias, Spasticity, Vocal cord paralysis, Central hypothyroidi...	ORPHA:798
Roberts-Sc Phocomelia Syndrome		Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Accessory spleen, Corneal o...	OMIM:268300
Osteogenesis Imperfecta		Abnormal endocardium morphology, Intestinal obstruction, Hypercalciuria, Corneal opacity, Nephrol...	ORPHA:666
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome		Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno...	OMIM:146255
Adult-Onset Dystonia-Parkinsonism		Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor...	ORPHA:199351
3-Methylglutaconic Aciduria, Type Viii		Hypertonia, Jaundice, Tremor, Clonus, Dystonia, Cataract	OMIM:617248
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome		Astigmatism, Hydroureter, Corneal erosion, Aganglionic megacolon, Corneal opacity, Hydronephrosis...	ORPHA:2273
Hutchinson-Gilford Progeria Syndrome		Abnormal aortic valve morphology, Corneal ulceration, Ventricular hypertrophy, Corneal opacity, H...	ORPHA:740
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies		Hypoplasia of the ovary, Hepatic steatosis, Micropenis, Decreased testicular size	OMIM:619321
Lumbar Syndrome		Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Waisman Syndrome		Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Co...	OMIM:311510
Van Den Ende-Gupta Syndrome		High, narrow palate, High palate, Cleft palate, Sclerocornea	OMIM:600920
Meckel Syndrome 14		Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus	OMIM:619879
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion		Abnormal fear-induced behavior, Emotional lability, Sensorineural hearing impairment, Hyperactivi...	ORPHA:353281
Limb-Mammary Syndrome		Chronic irritative conjunctivitis, Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Ab...	ORPHA:69085
Stuve-Wiedemann Syndrome 1		Smooth tongue, Opacification of the corneal stroma, Dysphagia	OMIM:601559
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome		Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre...	ORPHA:2237
Viss Syndrome		Coronary sinus enlargement, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysp...	OMIM:619472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3		Buphthalmos, Spasticity, Megalocornea, Myoclonus, Cataract, Opacification of the corneal stroma	OMIM:253280
Mowat-Wilson Syndrome		Aganglionic megacolon, Hypospadias, Microcornea, Pulmonic stenosis, Submucous cleft hard palate, ...	OMIM:235730
Oeis Complex		Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Microphthalmia, Syndromic 6		Anterior hypopituitarism, Microcornea, Adrenal hypoplasia, Female hypogonadism, Abnormality of th...	OMIM:607932
Townes-Brocks Syndrome 2		Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Chromosome 17Q12 Deletion Syndrome		Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, Aplasia of the ut...	OMIM:614527
Wolf-Hirschhorn Syndrome		Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Rieger anomaly, Biliary...	OMIM:194190
Knobloch Syndrome 2		Pyloric stenosis, Anterior cortical cataract	OMIM:618458
Thrombocytopenia-Absent Radius Syndrome		Aplasia of the uterus	ORPHA:3320
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency		Abnormal fear-induced behavior, Emotional lability, Sensorineural hearing impairment, Hyperactivi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations		Abnormal fear-induced behavior, Emotional lability, Sensorineural hearing impairment, Hyperactivi...	ORPHA:353277
Intellectual Developmental Disorder, X-Linked 72		Hyperactivity, Motor stereotypy	OMIM:300271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13		Decreased testicular size, Opacification of the corneal stroma, Spasticity, Micropenis	OMIM:615287
Epidermolysis Bullosa Simplex With Pyloric Atresia		Glomerular sclerosis, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Abnormality of the...	ORPHA:158684
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies		Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Cardiac-Urogenital Syndrome		Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum, Unilateral crypt...	OMIM:618280
Neu-Laxova Syndrome 1		Cataract, Pterygium, Bifid uterus, Cryptorchidism	OMIM:256520
Lethal Omphalocele-Cleft Palate Syndrome		Bifid uterus	ORPHA:2736
Okamoto Syndrome		Splenomegaly, Bifid uterus, Astigmatism	ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type		Cervical insufficiency, Keratoconus, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Coffin-Siris Syndrome 1		Clitoral hypertrophy, Astigmatism, Hypospadias, Aplasia of the uterus, Gait ataxia, Cryptorchidism	OMIM:135900
Phocomelia, Schinzel Type		Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Ifap Syndrome 1, With Or Without Bresheck Syndrome		Recurrent corneal erosions, Corneal neovascularization, Aganglionic megacolon, Hypospadias, Unila...	OMIM:308205
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome		Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Fanconi Anemia, Complementation Group L		Aplasia of the uterus, Micropenis	OMIM:614083
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome		Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Yunis-Varon Syndrome		Hypospadias, Patent foramen ovale, Cardiomyopathy, High palate, Pyloric stenosis, Sclerocornea, T...	OMIM:216340
Exstrophy-Epispadias Complex		Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Male sexual dysf...	ORPHA:322
Microphthalmia, Syndromic 1		Rectal prolapse, Ciliary body coloboma, Hydroureter, Hypospadias, Aganglionic megacolon, High, na...	OMIM:309800
Hydrolethalus Syndrome 1		Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Abnormal vagina morphology, Bifid uterus	OMIM:236680
Pallister-Killian Syndrome		Hypertonia, Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, C...	OMIM:601803
Vascular Ehlers-Danlos Syndrome		Hypospadias, Uterine rupture, Keratoconus, Uterine prolapse, Cystocele, Cryptorchidism, Abnormal ...	ORPHA:286
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult		Gastric hypertrophy, Gastric ulcer	OMIM:161700
Ulna And Fibula, Absence Of, With Severe Limb Deficiency		Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Townes-Brocks Syndrome 1		Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut...	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	Sex	Life Stage
Spinal cord - MPATH pathological process term extracellular matrix deposition	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
Femur - MPATH pathological entity term osteopenia	Rab39b^em1(IMPC)Tcp	HOM		Late adult
Femur - 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
Brain - MPATH pathological process term vacuolation	Rab39b^em1(IMPC)Tcp	HOM		Late adult
Femur - MPATH pathological process term hypoplasia	Rab39b^em1(IMPC)Tcp	HOM		Late adult
Brain - MPATH pathological process term vacuolation	Rab39b^em1(IMPC)Tcp	HEM		Late adult
Brain - MPATH pathological entity term hyalinosis	Rab39b^em1(IMPC)Tcp	HEM		Late 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
Femur - MPATH pathological entity term osteopenia	Rab39b^em1(IMPC)Tcp	HEM		Late adult
Spinal cord - MPATH pathological process term dystrophy	Rab39b^em1(IMPC)Tcp	HEM		Late adult
Femur - MPATH pathological process term hypoplasia	Rab39b^em1(IMPC)Tcp	HOM		Early adult
Tibia - MPATH pathological process term hypoplasia	Rab39b^em1(IMPC)Tcp	HOM		Early adult
Tibia - 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

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.

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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

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