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Gene: Trpm7 MGI:1929996

Gene Summary

Name:

transient receptor potential cation channel, subfamily M, member 7

Synonyms:

5033407O22Rik, LTRPC7, CHAK1, TRP-PLIK, 2310022G15Rik, CHAK, Ltpr7, 4833414K03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
irregularly shaped pupil	Trpm7^{tm1b(KOMP)Wtsi}	HET	Early adult	5.84×10^-05
corneal opacity	Trpm7^{tm1b(KOMP)Wtsi}	HET	Early adult	9.41×10^-05
embryonic lethality prior to tooth bud stage	Trpm7^{tm1b(KOMP)Wtsi}	HOM	E12.5	0.00
thrombocytosis	Trpm7^{tm1b(KOMP)Wtsi}	HET	Early adult	2.62×10^-05
preweaning lethality, complete penetrance	Trpm7^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Trpm7^{tm1b(KOMP)Wtsi}	HET	Early adult	5.86×10^-12
abnormal placement of pupils	Trpm7^{tm1b(KOMP)Wtsi}	HET	Early adult	6.96×10^-05
abnormal iris morphology	Trpm7^{tm1b(KOMP)Wtsi}	HET	Early adult	9.74×10^-06

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Bone	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	50% (1 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Lymph node	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	50% (1 of 2)
Skeletal muscle	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

19 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

Human diseases caused by Trpm7 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 Trpm7 (1 diseases)
Human diseases predicted to be associated with Trpm7 (903 diseases)

The table below shows human diseases associated to Trpm7 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1		Parkinsonism, Paralysis	OMIM:105500

The table below shows human diseases predicted to be associated to Trpm7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Generalized-onset seizure, Renal magnesium wasting, Nephrocalcinosis, Statu...	ORPHA:564178
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Generalized-onset seizure, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Seizure, Hypokale...	OMIM:618314
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
East Syndrome	Generalized-onset seizure, Ataxia, Renal salt wasting, Renal magnesium wasting, Seizure, Hypokale...	ORPHA:199343
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Seizure, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Hypomagnesemia 1, Intestinal	Seizure, Hypocalcemia, Hypomagnesemia	OMIM:602014
Hypomagnesemia 4, Renal	Seizure, Hypomagnesemia	OMIM:611718
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Seizure, Hypokalemia, Hyperphosphatemia, Incre...	OMIM:601198
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Seizure, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Seizure, Hypomagnesemia	OMIM:616418
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Morquio Syndrome C	Corneal opacity	OMIM:252300
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Polyuria, Renal salt wasting, Seizure, Hypokalemia, Dysdiadochokinesis, Increased circula...	OMIM:612780
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	ORPHA:101082
Galactosialidosis	Corneal opacity	ORPHA:351
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe...	OMIM:264070
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Hypomagnesemia	OMIM:613882
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Thrombocytopenia	ORPHA:1980
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Autosomal Dominant Hypocalcemia	Eczema, Writer's cramp, Hypercalciuria, Fatigable weakness, Nephrocalcinosis, Hyperphosphatemia, ...	ORPHA:428
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Gitelman Syndrome	Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Seizure, Hypokalemia, Enuresis, Increased c...	OMIM:263800
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D...	OMIM:614561
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagla...	ORPHA:73224
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia	OMIM:213000
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, Hy...	ORPHA:398063
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst	OMIM:620086
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	OMIM:160565
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi...	ORPHA:309169
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Facial Spasm	Anisocoria	OMIM:134300
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Epi...	OMIM:612736
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Tremor, Chorea, Vomitin...	ORPHA:94093
Neurodevelopmental Disorder With Language Delay And Seizures	Seizure, Hypomagnesemia	OMIM:619908
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ...	OMIM:601678
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iro...	ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Urinary incontinence, Abnormal circulating calcium concentration, Tremor, Chorea, R...	OMIM:213600
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Diarrhea, Abnormal blood ion concen...	ORPHA:31824
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase	OMIM:614369
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Winchester Syndrome	Corneal opacity	OMIM:277950
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Paralysis, Diarrhea, Nephrolithiasis, Renal ...	ORPHA:18
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Pancreatitis	OMIM:145980
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Saccharopinuria	Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Seizure, C...	ORPHA:3124
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Ataxia, Tremo...	OMIM:614018
Kenny-Caffey Syndrome, Type 1	Seizure, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, ...	OMIM:615924
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Primary Intestinal Lymphangiectasia	Lymphopenia, Chronic diarrhea, Decreased circulating antibody level, Decreased circulating total ...	ORPHA:90362
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure	OMIM:611092
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Dysphagia, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Hyperphenylalaninemia	OMIM:261630
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Cystathioninuria	Tremor, Cystathioninuria, Nephrolithiasis, Cystathioninemia, Seizure	ORPHA:212
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst...	OMIM:618425
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Urinary incontinence, Tremor, Spastic paraplegia, Babinski sign, U...	OMIM:600363
Orthostatic Hypotension 1	Hypomagnesemia, Seizure, Nocturia, Increased blood urea nitrogen	OMIM:223360
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Decreased urinary potassium,...	ORPHA:79102
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Epilepsy, Progressive Myoclonic 7	Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo...	OMIM:607317
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,...	ORPHA:521406
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Coats Disease	Leukocoria	OMIM:300216
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy...	OMIM:209950
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation	ORPHA:85167
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Focal-onset seizure, Elevated circulating phytanic acid concentration, Hemiparesi...	OMIM:614307
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Migraine, Familial Hemiplegic, 1	Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia	OMIM:141500
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Seizure, Dyston...	OMIM:612126
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Secretory diarrhea, Decreased circulating antibody ...	OMIM:618183
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia, Dysphagia	OMIM:615945
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor...	ORPHA:79262
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-...	ORPHA:36387
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Atonic seiz...	ORPHA:2590
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ...	OMIM:615362
Hereditary Fructose Intolerance	Renal insufficiency, Diarrhea, Chronic kidney disease, Hypermagnesemia, Seizure, Vomiting, Hyperu...	ORPHA:469
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor	OMIM:601068
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ...	ORPHA:358
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My...	OMIM:616421
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Seizure, Transient hyperphenylalaninemia, Dystonia, Oculomotor a...	OMIM:612716
Developmental And Epileptic Encephalopathy 97	Tremor, Seizure, Epileptic spasm	OMIM:619561
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N...	OMIM:245900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,...	OMIM:175780
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Spinocerebellar Ataxia 48	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Chorea, Babin...	OMIM:618093
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy...	ORPHA:251282
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Fatiguable weakness of proximal limb muscles,...	ORPHA:90117
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Pearson Syndrome	Renal cyst, Hypocalcemia, Neutropenia, Reticulocytosis, Ataxia, Chronic diarrhea, Seizure, Hypoka...	ORPHA:699
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Crigler-Najjar Syndrome Type 1	Tremor, Seizure, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Seizure, Focal im...	ORPHA:330050
Griscelli Syndrome Type 3	Iris hypopigmentation	ORPHA:79478
Alexander Disease	Microcoria	OMIM:203450
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal...	OMIM:617671
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Elevated circulating creatine kinase concentration, Tremor, Myoclonus,...	OMIM:159950
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Congenital Rubella Syndrome	Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia	ORPHA:290
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Focal dystonia, Clums...	ORPHA:216873
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Ectopia pupillae, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Urocanic Aciduria	Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait ataxia, Truncal ata...	ORPHA:210128
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo...	OMIM:617836
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Seizure, Limb dy...	ORPHA:71517
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations...	ORPHA:276435
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology	ORPHA:1617
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Hyperkinetic movements, Hyperphe...	OMIM:233910
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Bradykines...	OMIM:261640
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Sei...	ORPHA:391417
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Focal ...	ORPHA:240103
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Glutathionuria	Urinary incontinence, Eczema, Tremor, Dysdiadochokinesis, Constipation, Glutathionuria, Action tr...	OMIM:231950
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Generalized-onset seizure, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenur...	OMIM:300539
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai...	OMIM:617916
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Dysmetria, Gait ataxia, Generali...	OMIM:618090
Cogan Syndrome	Keratitis, Leukocytosis, Uveitis, Conjunctivitis, Thrombocytosis, Anemia	ORPHA:1467
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma	ORPHA:139450
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Myocl...	OMIM:617810
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Dyspha...	OMIM:606159
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Infantile Neuronal Ceroid Lipofuscinosis	Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordin...	ORPHA:79263
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vomiting	OMIM:239199
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Vomiting, Increased circulating renin level	OMIM:203400
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Gastroparesis, Parkinsonism, Urinary incontinence, Bowel incontinence, Tremor, Rigidity...	OMIM:618877
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Mi...	OMIM:152950
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Medullary n...	OMIM:143880
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Dystonia 12	Torticollis, Parkinsonism, Tremor, Dysphagia, Bradykinesia, Dystonia	OMIM:128235
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera...	OMIM:612016
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ...	ORPHA:411634
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Heterochro...	ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration	OMIM:613153
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Infantile spasms	OMIM:278780
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Diarrhea, Hyperkalemia, Vomiting	OMIM:264350
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere...	ORPHA:254881
Neuronal Intranuclear Inclusion Disease	Ataxia, Urinary incontinence, Tremor, Rigidity, Seizure, Episodic vomiting	OMIM:603472
Lopes-Maciel-Rodan Syndrome	Tremor, Abnormal pyramidal sign, Dysphagia, Ankle clonus, Seizure, Bradykinesia, Hypertonia, Foca...	OMIM:617435
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Rigidity, Focal mo...	OMIM:619911
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia	OMIM:618387
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Chilblains, Tremor, Rigidity, Splenomegaly, Dystonia, Thrombocytopenia	OMIM:615010
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity	ORPHA:93476
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal...	ORPHA:85450
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, Lymphopenia, A...	OMIM:615934
Familial Dysautonomia	Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis	ORPHA:1764
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Tremor, Decreased circulating antibody level, Hypocystinemia, Decrease...	OMIM:617744
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Elevated uri...	OMIM:618049
Sialidosis Type 2	Splenomegaly, Corneal opacity	ORPHA:87876
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal circulating phytanic acid concentration, Mydriasis	ORPHA:247815
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Recurrent myoglobinuria...	OMIM:607426
Mercury Poisoning	Tremor, Seizure, Hypokalemia, Interstitial pneumonitis, Dystonia, Acute kidney injury, Episodic v...	ORPHA:330021
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Scheie Syndrome	Corneal opacity	OMIM:607016
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys...	OMIM:619028
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Nephronophthisis 11	Anisocoria, Anemia	OMIM:613550
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis	ORPHA:329284
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio...	OMIM:612953
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Generalized-onset seizure, Postural tremor, Proteinuria, Act...	OMIM:254900
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Acute leukemia	ORPHA:281090
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Tremor, Nephrotic syndrome, Hypertonia, Photosensitive myoclonic seizure, Nephropath...	ORPHA:1192
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxi...	OMIM:617145
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor, Periodic paralysis	OMIM:609153
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Intestinal Botulism	Mydriasis	ORPHA:178481
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular acidosis	OMIM:602722
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait atax...	ORPHA:363400
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti...	ORPHA:124
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon...	ORPHA:363654
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Harel-Yoon Syndrome	Corneal opacity, Developmental cataract	OMIM:617183
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo...	ORPHA:94080
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Dyspha...	OMIM:607483
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Uri...	OMIM:616795
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Seizure, Nephropathy	ORPHA:820
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C...	OMIM:615673
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Dysphagia, Fasciculations	OMIM:313200
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Ataxia, Reticulocytosi...	ORPHA:713
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Seizure, Hyperkalemia, Renal salt wasting	OMIM:614736
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ...	OMIM:619725
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Developmental And Epileptic Encephalopathy 46	Generalized-onset seizure, Tremor, Seizure, Dysphagia, Limb hypertonia	OMIM:617162
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Aminoacid...	OMIM:277900
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Chronic const...	OMIM:618060
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Dystonia, Limb hypert...	ORPHA:70594
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus	OMIM:603776
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Microcornea, Shallow anterior chamber, Chorioretinal coloboma, Iris coloboma	OMIM:602499
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis	OMIM:614831
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Ataxia, Proteinuria, Spastic tetraparesis, Abnormal pyramidal sign, Renal tubu...	ORPHA:436271
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Babinski sign, Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 mo...	ORPHA:477673
Spontaneous Periodic Hypothermia	Skin rash, Ataxia, Tremor, Diarrhea, Seizure	ORPHA:29822
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Tremor, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia,...	OMIM:312170
Atypical Rett Syndrome	Dystonia, Involuntary movements, Infantile spasms, Tremor, Gait ataxia, Pill-rolling tremor, Seiz...	ORPHA:3095
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:610600
Alpha-Mannosidosis	Splenomegaly, Cataract, Corneal opacity	ORPHA:61
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma	OMIM:212550
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m...	OMIM:613150
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tr...	OMIM:251100
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia	ORPHA:134
Cln5 Disease	Generalized-onset seizure, Abnormal central motor function, Ataxia, Tremor, Focal-onset seizure, ...	ORPHA:228360
Aceruloplasminemia	Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circ...	ORPHA:48818
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re...	ORPHA:240085
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Revesz Syndrome	Megalocornea, Aplastic anemia, Leukocoria	OMIM:268130
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Urinary incontinence, Focal-onset seizure, Chorea, Babinski sign, A...	ORPHA:225147
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc...	OMIM:613179
Wolf-Hirschhorn Syndrome	Accessory spleen, Ectopia pupillae, Iris coloboma, Rieger anomaly	OMIM:194190
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic movements, Dystonia, Ac...	OMIM:619738
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia...	OMIM:208920
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Classic Phenylketonuria	Eczema, Tremor, Paraplegia, Seizure, Hypertonia, Hyperphenylalaninemia, Hemiplegia	ORPHA:79254
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
4H Leukodystrophy	Ataxia, Tremor, Dysmetria, Dysphagia, Seizure, Progressive gait ataxia, Dysdiadochokinesis, Abnor...	ORPHA:289494
Trisomy X	Tremor, Seizure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Renal sodium wasting	ORPHA:556037
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl...	OMIM:619092
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Hyperlysinemia	Tremor, Dysmetria, Opisthotonus, Cystinuria, Vomiting, Gastroesophageal reflux, Clumsiness, Seizu...	ORPHA:2203
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus	OMIM:144010
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia	OMIM:212750
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Arthritis, Seizure, Dysphagia, Mildly elevated creatine kinase	ORPHA:397744
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia	ORPHA:20
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma	OMIM:235730
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Dystonia, Spasticity	ORPHA:542310
Wound Botulism	Mydriasis	ORPHA:178475
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr...	OMIM:241500
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Seizure, Dystonia, Spasticity	OMIM:607694
Walker-Warburg Syndrome	Cataract, Corneal opacity, Chorioretinal dysplasia, Microcornea, Abnormal circulating creatine ki...	ORPHA:899
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Chorioretinal coloboma, Peters anomaly	OMIM:120200
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Tetanus	Elevated circulating creatine kinase concentration, Bowel incontinence, Elevated urinary norepine...	ORPHA:3299
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Renal sodium wasting	ORPHA:556030
Duane Retraction Syndrome	Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret...	ORPHA:233
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Miller Fisher Syndrome	Anisocoria, Mydriasis	ORPHA:98919
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Unilateral renal agenesis, Atopic dermatitis, Dysphagia, Hepatosplenomegaly, Ur...	OMIM:619503
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Ddost-Cdg	Tremor, Oromotor apraxia, Seizure, Gastroesophageal reflux, Constipation, Nephrotic range protein...	ORPHA:300536
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia	OMIM:193100
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Ocul...	ORPHA:529665
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ...	ORPHA:425
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Inhalational Botulism	Mydriasis	ORPHA:254504
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,...	OMIM:602481
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619790
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Opacification of the corneal stroma	OMIM:252605
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,...	OMIM:105650
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Hypoalbuminemia, Hypocholesterolemia	OMIM:212065
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Horseshoe kidney, Dysphagia, Choreoathetosis, Seizure, Gastroesophageal reflux, Constipat...	OMIM:617664
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Diarrhea, Hyperkalemia, Tet...	ORPHA:361
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Spastic/hyperactive bladder, Clumsiness, P...	ORPHA:137898
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkalemia, Proximal r...	ORPHA:427
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm...	OMIM:312080
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion...	OMIM:222470
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Tremor, Abnormal circulating fatty-acid concentration, Diarrhea, Seizure, Renal Fanc...	ORPHA:263455
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity	ORPHA:496790
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Lymphocytosis, Thr...	OMIM:301074
Nipah Virus Disease	Tremor, Seizure, Infectious encephalitis, Myoclonus	ORPHA:99825
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuria, Aminoacidur...	OMIM:239200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Hypercholesterolemia, Familial, 1	Increased LDL cholesterol concentration, Corneal arcus	OMIM:143890
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Seizure, Status epi...	ORPHA:442835
Interstitial Lung And Liver Disease	Anemia, Thrombocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia	OMIM:615486
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Sialidosis Type 1	Splenomegaly, Cataract, Corneal opacity	ORPHA:812
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Tremor, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis...	OMIM:274150
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Corneal opacity, Elevated circulating creatine kinase concentration, Leukopenia, Astigmatism, Thr...	OMIM:301056
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Cataract, Abnormality iris morphology, Elevated circulating creatine kinase concent...	ORPHA:370959
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Behr Syndrome	Ataxia, Tremor, Babinski sign, Dysmetria, Dysphagia, Chronic constipation, Progressive spasticity...	OMIM:210000
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia,...	ORPHA:31150
Infant Botulism	Hyponatremia, Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Brucellosis	Anterior uveitis, Elevated circulating C-reactive protein concentration, Hypersplenism, Thrombocy...	ORPHA:1304
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Oculomotor apraxia	OMIM:614867
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim...	ORPHA:101
Ataxia-Telangiectasia	Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circul...	OMIM:208900
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ocular albinism, Choroideremia, Anemia, Iris hypopigmentation	ORPHA:2719
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Myoclonic-Astatic Epilepsy	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se...	ORPHA:1942
Poems Syndrome	Thrombocytosis, Polycythemia	ORPHA:2905
Scheie Syndrome	Splenomegaly, Corneal opacity	ORPHA:93474
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Seizure, Athetosis, Hyperton...	OMIM:617710
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:276621
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Tremor, Diarrhea, I...	ORPHA:79276
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Aspiration pneumoni...	ORPHA:845
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia	OMIM:614732
Botulism	Mydriasis	ORPHA:1267
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Renal salt wasting	OMIM:619406
Sneddon Syndrome	Tremor, Decreased circulating total IgM, Seizure, Hemiplegia, Lymphopenia	OMIM:182410
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria	OMIM:231550
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Posterior embryot...	ORPHA:912
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Cystinosis	Hypokalemia, Corneal opacity, Hypophosphatemia	ORPHA:213
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Hypersegmentation of neutrophil nuclei	OMIM:615578
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Urinary incontinence, Tremor, Diarrhea, Abnormal pyramidal sign, Paraplegia, Limb ataxia,...	OMIM:105210
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Seiz...	OMIM:222300
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Nephrolithias...	ORPHA:157215
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis	OMIM:300894
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Focal ...	ORPHA:52368
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Foodborne Botulism	Mydriasis	ORPHA:228371
Typhoid	Gastrointestinal hemorrhage, Skin rash, Ataxia, Tremor, Splenomegaly, Diarrhea, Hypertonia, Const...	ORPHA:99745
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Congenital Fibrosis Of Extraocular Muscles	Anisocoria, Abnormal pupil shape, Cataract	ORPHA:45358
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria	ORPHA:2714
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei, Abnormality iris morphology	ORPHA:250999
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia, Decreased urinary potassium	OMIM:611489
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abn...	ORPHA:1830
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Asplenia, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astig...	ORPHA:261552
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Urinary urgency, Constip...	OMIM:168600
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis	OMIM:613239
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:93399
Wilson Disease	Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia, Anemia	ORPHA:905
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Hypoph...	OMIM:616026
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph...	OMIM:241530
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decrease...	ORPHA:95409
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chorea, Glutaric a...	ORPHA:25
Retinoblastoma	Leukemia, Leukocoria	OMIM:180200
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Abnormal a...	ORPHA:2479
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo...	ORPHA:84064
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity	ORPHA:357058
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Multiple Sulfatase Deficiency	Splenomegaly, Cataract, Corneal opacity	ORPHA:585
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hematoc...	ORPHA:79095
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Infantile spasms, Generali...	ORPHA:3008
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus	OMIM:607876
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals	OMIM:210370
Sanjad-Sakati Syndrome	Hyperphosphatemia, Corneal opacity, Hypocalcemia, Astigmatism	ORPHA:2323
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Tremor, Myocarditis, Splenomegaly, Seizure, Inf...	ORPHA:83317
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Urinary incontinence, Bowel incontinence, Tremor, Fasciculations, Frequent falls, M...	ORPHA:329478
Spastic Paraplegia 9B, Autosomal Recessive	Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paraly...	OMIM:616586
Japanese Encephalitis	Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, Vomiting, Infectious en...	ORPHA:79139
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Recurrent pneumonia, Neutropenia, Opisthotonus, Choreoathetosis, Seizure, Leukope...	OMIM:616271
Congenital Sialidosis Type 2	Hepatosplenomegaly, Cataract, Corneal opacity, Developmental cataract	ORPHA:93400
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	ORPHA:209335
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephroli...	ORPHA:47159
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Osteoarthritis, Renal phosphate wasting, Renal tubula...	OMIM:307800
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia...	ORPHA:99027
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert...	OMIM:618056
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal...	OMIM:229600
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Nausea, Increased urinary potassium, Decreased circulating renin level	ORPHA:231580
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma	OMIM:243605
Farber Disease	Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica...	ORPHA:333
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil m...	ORPHA:534
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity	ORPHA:2409
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity	OMIM:607015
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia	OMIM:612089
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract	OMIM:616603
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:29072
Trichinellosis	Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology	ORPHA:863
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Congenital Disorder Of Glycosylation, Type Ij	Infantile spasms, Tremor, Seizure, Hypertonia, Hypoproteinemia	OMIM:608093
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria	OMIM:615510
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Seizure, Aminoaciduria, Renal ...	OMIM:220110
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Corneal opacity	OMIM:163200
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate...	ORPHA:2088
Progressive Supranuclear Palsy	Tremor, Rigidity, Dysphagia, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Dystonia	ORPHA:683
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D...	OMIM:614381
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, ...	ORPHA:85138
Tick-Borne Encephalitis	Speech apraxia, Generalized-onset seizure, Incoordination, Elevated circulating C-reactive protei...	ORPHA:297
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Nausea, Increased urinary potassium, Decreased circulating renin level	ORPHA:231625
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism	OMIM:252600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Bilateral tonic-clonic seizure, Ataxia, Hydroureter, Babinski sign, Generalize...	OMIM:615398
Knobloch Syndrome 1	Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L...	OMIM:267750
Neuhauser Syndrome	Hypoplasia of the iris, Hypercholesterolemia, Megalocornea, Iridodonesis	OMIM:249310
Serotonin Syndrome	Clonus, Tremor, Rigidity, Diarrhea, Seizure, Hypertonia, Myoclonus, Acute kidney injury, Nausea	ORPHA:43116
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Neuromuscular dysphagia, Blepharos...	ORPHA:240071
Retinoblastoma	Leukocoria, Uveitis, Leukemia, Hypopyon, Heterochromia iridis	ORPHA:790
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Mucopolysaccharidosis Type 7	Splenomegaly, Corneal opacity	ORPHA:584
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Multiple Sulfatase Deficiency	Splenomegaly, Corneal opacity	OMIM:272200
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Chronic diarrhea, Hypercalciuria, Reticuloc...	OMIM:557000
Collagenoma, Familial Cutaneous	Iris atrophy	OMIM:115250
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma	OMIM:251290
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level	OMIM:613677
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Cho...	OMIM:615356
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Alternating Hemiplegia Of Childhood	Bilateral tonic-clonic seizure, Ataxia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea, Epis...	ORPHA:2131
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Impaired T cell function, Tremor, Splenomegaly, Diarrhea, Decreased serum zinc	OMIM:201100
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Hypoplasia of the thymus, Opacification of the corneal stroma, Elevat...	OMIM:214110
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria, Nausea	ORPHA:251274
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia, Increased circulating antibody level, Fasciculations	ORPHA:99965
Fucosidosis	Corneal opacity	ORPHA:349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter...	OMIM:236670
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Seizure...	ORPHA:447753
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Di...	ORPHA:275761
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, V...	ORPHA:90791
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Adrenal Hypoplasia, Congenital	Hyponatremia, Renal salt wasting	OMIM:300200
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Cocaine Intoxication	Bilateral tonic-clonic seizure, Glomerulonephritis, Elevated circulating creatine kinase concentr...	ORPHA:90068
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Hypospadias, Gastroparesis, Tremor, Hyperammonemia, Seizure, 3-Methylglutaconic aciduria,...	OMIM:614052
Listeriosis	Tremor, Granulomatosis, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, Nausea,...	ORPHA:533
Pituitary Apoplexy	Hyponatremia, Normochromic anemia, Mydriasis	ORPHA:95613
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Gm1 Gangliosidosis	Splenomegaly, Corneal opacity, Hepatosplenomegaly	ORPHA:354
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Schimke Immunoosseous Dysplasia	Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacification of the cor...	OMIM:242900
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Myoclonic seizure, Fasciculations, Hydronephrosis, Limb hyp...	OMIM:620327
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, Hypocalcemia	OMIM:618440
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset...	ORPHA:1934
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Xerostomia, Dysmetria, Spa...	OMIM:618527
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia	OMIM:156400
Hurler Syndrome	Splenomegaly, Corneal opacity, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:607014
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculo...	ORPHA:240094
Charcot-Marie-Tooth Disease Type 4C	Anisocoria	ORPHA:99949
Chromosome 6Pter-P24 Deletion Syndrome	Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy...	OMIM:612582
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma	ORPHA:2092
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Doors Syndrome	Thrombocytosis, Cataract	ORPHA:79500
Young-Onset Parkinson Disease	Gastroparesis, Tremor, Rigidity, Diarrhea, Bradykinesia, Constipation, Dystonia, Spasticity, Nausea	ORPHA:2828
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Acne, Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level...	ORPHA:90795
Incontinentia Pigmenti	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Eosinophilia, Keratitis, Uveitis	ORPHA:464
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr...	ORPHA:168558
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Enthesitis, Renal phos...	ORPHA:289176
Lathosterolosis	Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co...	ORPHA:46059
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Conjunctivitis, Abnormality of neutrophil physiology, Impai...	ORPHA:2968
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia, Corneal opacity	ORPHA:79396
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Ne...	ORPHA:90041
Cutis Marmorata Telangiectatica Congenita	Leukocoria	ORPHA:1556
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr...	ORPHA:289548
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Hemifacial spasm, Ataxia, Keto...	ORPHA:466677
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Bilateral tonic-clonic seizure, Hypercalcemia, Generalized non-motor (absen...	ORPHA:369837
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo...	ORPHA:167
Scalp-Ear-Nipple Syndrome	Anisocoria, Cataract, Iris coloboma, Developmental cataract	OMIM:181270
Multisystemic Smooth Muscle Dysfunction Syndrome	Mydriasis	OMIM:613834
Encephalitis Lethargica	Urinary incontinence, Parkinsonism, Bowel incontinence, Tremor, Seizure, Increased circulating an...	ORPHA:83600
Niemann-Pick Disease Type C	Generalized-onset seizure, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progr...	ORPHA:646
Superficial Siderosis	Anisocoria	ORPHA:247245
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Ataxia, Abnormal ...	OMIM:214500
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria	OMIM:618653
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy...	OMIM:239000
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Renal tubular dysfunction, Hypertonia, Glycosuria...	OMIM:616539
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas...	OMIM:158310
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:99880
Mucopolysaccharidosis, Type Vii	Splenomegaly, Corneal opacity	OMIM:253220
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovasculariza...	ORPHA:91500
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Abnorm...	ORPHA:324
Lathosterolosis	Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He...	OMIM:607330
Mosaic Trisomy 9	Asplenia, Corneal opacity	ORPHA:99776
Mccune-Albright Syndrome	Hyperphosphaturia, Pancytopenia, Hepatitis, Renal phosphate wasting, Renal tubular dysfunction, G...	ORPHA:562
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:143
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Opacification of the corneal stroma	OMIM:231005
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, D...	OMIM:615530
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Mucopolysaccharidosis Type 1	Splenomegaly, Corneal opacity	ORPHA:579
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Urinary incontinence, Acanthocytosis, Tremor, Rigidity, Bab...	OMIM:234200
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration,...	OMIM:610505
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Corneal opacity	ORPHA:488632
Mucopolysaccharidosis Type 6	Splenomegaly, Opacification of the corneal stroma	ORPHA:583
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism	ORPHA:309282
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Iris coloboma, Sclerocornea, Peters anomaly	OMIM:309801
De Barsy Syndrome	Cataract, Corneal opacity	ORPHA:2962
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Hurler Syndrome	Splenomegaly, Corneal opacity	ORPHA:93473
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Normochromic anemia...	OMIM:615512
Fryns Syndrome	Corneal opacity	ORPHA:2059
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea	OMIM:614230
Gaucher Disease	Pancytopenia, Osteomyelitis, Bilateral tonic-clonic seizure, Ataxia, Elevated circulating C-react...	ORPHA:355
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Corneal ulceration, Corneal opacity, Elevated circulating alpha-fetoprotein conc...	OMIM:615273
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia	OMIM:274000
Metachromatic Leukodystrophy	Incoordination, Ataxia, Urinary incontinence, Bowel incontinence, Tremor, Seizure, Decerebrate ri...	ORPHA:512
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Iris coloboma	ORPHA:2396
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Bradykinesia, Urinar...	OMIM:146500
Arachnoid Cyst	Mydriasis	ORPHA:2356
Moebius Syndrome	Corneal opacity	ORPHA:570
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma	ORPHA:536471
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Neutropenia, Dysphagia, Seizure, 3-Methylglutaric aciduria, Hypertonia, 3-Methylg...	OMIM:617248
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Meckel Syndrome	Accessory spleen, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Asplenia, Microcorne...	ORPHA:564
Mucopolysaccharidosis Type 3	Splenomegaly, Cataract, Corneal opacity, Opacification of the corneal stroma	ORPHA:581
Neurofibromatosis Type 1	Cataract, Corneal opacity, Chronic myelogenous leukemia, Chorioretinal coloboma, Lisch nodules, L...	ORPHA:636
Histiocytoid Cardiomyopathy	Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Cataract, Hypoalbuminemia, Opacification of the corneal stroma	OMIM:251300
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Cataract, Corneal opacity	ORPHA:1052
Carpenter Syndrome 1	Microcornea, Polysplenia, Opacification of the corneal stroma	OMIM:201000
Oculodentodigital Dysplasia	Microcornea, Cataract, Abnormality iris morphology	ORPHA:2710
Proboscis Lateralis	Cataract, Corneal opacity, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:141099
Arima Syndrome	Ataxia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary ...	OMIM:243910
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Corneal opacity	ORPHA:464311
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemi...	ORPHA:2072
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Acne, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine le...	ORPHA:90794
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Conjugated hyperbilirubinemia, Brushfield spots, Splenomegaly, Elevated circulating phy...	OMIM:614866
Mucopolysaccharidosis, Type Vi	Splenomegaly, Corneal opacity	OMIM:253200
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Elevated circulating long chain fatty acid concentration, Cataract, Opacificati...	OMIM:214100
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Corneal opacity	ORPHA:464306
Oculoectodermal Syndrome	Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid	OMIM:600268
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy	ORPHA:495875
Chime Syndrome	Corneal opacity, Acute leukemia	ORPHA:3474
Kindler Epidermolysis Bullosa	Conjunctivitis, Anemia, Corneal opacity	ORPHA:2908
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Diarr...	ORPHA:653
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
X-Linked Hypophosphatemia	Enthesitis, Renal phosphate wasting, Arthritis, Hypocalciuria, Hypophosphatemia	ORPHA:89936
Larsen Syndrome	Corneal opacity	OMIM:150250
Mucopolysaccharidosis Type 2, Severe Form	Splenomegaly, Abnormal uvea morphology, Corneal opacity, Hepatosplenomegaly	ORPHA:217085
Microphthalmia With Linear Skin Defects Syndrome	Posterior embryotoxon, Corneal opacity, Chorioretinal dysplasia, Sclerocornea	ORPHA:2556
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Mucopolysaccharidosis Type 2, Attenuated Form	Splenomegaly, Abnormal uvea morphology, Corneal opacity, Hepatosplenomegaly	ORPHA:217093
African Trypanosomiasis	Urinary incontinence, Tremor, Choreoathetosis, Conjunctivitis, Vomiting, Iritis, Nausea, Abnormal...	ORPHA:3385
Craniotubular Dysplasia, Ikegawa Type	Mydriasis	OMIM:619727
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Acrofrontofacionasal Dysostosis 1	Iris atrophy	OMIM:201180
Witteveen-Kolk Syndrome	Anisocoria, Cataract, Iris coloboma	OMIM:613406
Microphthalmia, Syndromic 3	Cataract, Sclerocornea	OMIM:206900
Neonatal Marfan Syndrome	Iridodonesis, Megalocornea, Ectopia lentis	ORPHA:284979
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae	ORPHA:709
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia, Neutropenia	ORPHA:93357
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Keratitis, Corneal erosion, Uveitis, Astigmatism, Conjunctivitis	ORPHA:2273
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Wolf-Hirschhorn Syndrome	Megalocornea, Iris coloboma, Sclerocornea	ORPHA:280
Smith-Lemli-Opitz Syndrome	Iris coloboma, Cataract, Elevated circulating 7-dehydrocholesterol concentration, Sclerocornea	ORPHA:818
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Williams Syndrome	Posterior embryotoxon, Flat cornea, Cataract, Hypercalcemia, Elevated circulating creatine kinase...	ORPHA:904
Mucopolysaccharidosis Type 2	Splenomegaly, Corneal opacity	ORPHA:580
Mosaic Trisomy 1	Opacification of the corneal stroma	ORPHA:1692
Cystic Fibrosis	Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Bronchiectasis, Hypercalciuria, Hepatosplen...	OMIM:219700
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Osteogenesis Imperfecta	Corneal opacity, Thrombocytopenia	ORPHA:666
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Megalocornea, Increased serum beta-hexosaminidase, Opacification of the corneal stroma	OMIM:252500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c...	OMIM:253280
Autosomal Dominant Cutis Laxa	Corneal opacity, Developmental cataract	ORPHA:90348
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
Vascular Ehlers-Danlos Syndrome	Keratoconus, Hypokalemia, Abnormal pupil morphology	ORPHA:286
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Absent anterior chamber of the eye	OMIM:259770
Cockayne Syndrome B	Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the c...	OMIM:133540
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium	ORPHA:910
Sarcoidosis	Hemolytic anemia, Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Eosinophilia, Eryt...	ORPHA:797
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Hematemesis, Diarrhea, Nephrolithiasis, Atypical absence status epilepticus, Hyper...	ORPHA:652
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma	OMIM:601559
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Williams-Beuren Syndrome	Vocal cord paralysis, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux, Micropeni...	OMIM:194050
Digeorge Syndrome	Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Posterior e...	OMIM:188400
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Iris atrophy	OMIM:620305
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary...	OMIM:263650
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Plague	Splenomegaly, Conjunctival hyperemia, Mydriasis	ORPHA:707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Elevated circulating creatine kinase concentration, Opacification of the corneal stroma	OMIM:615287
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Iridocyclitis, Splenomegaly, Bronchiectasis, Uvei...	OMIM:181000
Hutchinson-Gilford Progeria Syndrome	Corneal ulceration, Corneal opacity	ORPHA:740
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Corneal opacity, Cataract	ORPHA:3455
Cockayne Syndrome A	Splenomegaly, Cataract, Opacification of the corneal stroma	OMIM:216400
Beckwith-Wiedemann Syndrome	Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Nephrol...	ORPHA:116
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Renal dysplasia, Anemia	OMIM:300990
Leprechaunism	Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Enl...	ORPHA:508
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma	OMIM:268300
Yunis-Varon Syndrome	Cataract, Sclerocornea	ORPHA:3472
Fryns Syndrome	Polysplenia, Opacification of the corneal stroma	OMIM:229850
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Nephrocalcinosis, Seizure, Vomiting, Hypophosphatemic rickets, Medullary nephr...	ORPHA:51608
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea	OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero...	OMIM:308205
Yunis-Varon Syndrome	Cataract, Sclerocornea	OMIM:216340
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypocalciuria, Hypophosphaturia	ORPHA:73223
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Parkinsonism, Paralysis	OMIM:105500

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.

There is no histopathology data for Trpm7

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 Trpm7.

No publications found that use IMPC mice or data for Trpm7.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Trpm7^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Trpm7^{tm44236(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Trpm7^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Trpm7^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Trpm7^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Trpm7^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	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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Gene: Trpm7 MGI:1929996

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Adult LacZ

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Human diseases caused by Trpm7 mutations

Histopathology

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Access Data Release 20.1 Data