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Gene: Trpm7 MGI:1929996

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Gene Summary

Name:
transient receptor potential cation channel, subfamily M, member 7
Synonyms:
5033407O22Rik,  LTRPC7,  CHAK1,  TRP-PLIK,  2310022G15Rik,  CHAK,  Ltpr7,  4833414K03Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
corneal opacity Trpm7tm1b(KOMP)Wtsi HET   Early adult 9.41×10-05
preweaning lethality, complete penetrance Trpm7tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal iris morphology Trpm7tm1b(KOMP)Wtsi HET   Early adult 9.74×10-06
thrombocytosis Trpm7tm1b(KOMP)Wtsi HET Early adult 2.69×10-05
abnormal placement of pupils Trpm7tm1b(KOMP)Wtsi HET Early adult 6.96×10-05
increased circulating alkaline phosphatase level Trpm7tm1b(KOMP)Wtsi HET Early adult 1.72×10-11
embryonic lethality prior to tooth bud stage Trpm7tm1b(KOMP)Wtsi HOM   E12.5 0.00
irregularly shaped pupil Trpm7tm1b(KOMP)Wtsi HET   Early adult 5.84×10-05

Download data as:  TSV  XLS

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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 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
olfactory lobe 0.17% (1 of 579)
oral epithelium 0.0%
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
uterus 0.35% (2 of 579)
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.

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images
Adult LacZ

LacZ Images Wholemount

19 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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... 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
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy OMIM:609141
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Status epilepticus, Nephrocalcinosis, Renal magnesium wasting, Generalized-onset seizure, Episodi... ORPHA:564178
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea 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
Status epilepticus, Nephrocalcinosis, Renal magnesium wasting, Generalized-onset seizure, Hypokal... OMIM:618314
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... 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
East Syndrome
Enuresis, Increased circulating renin level, Ataxia, Renal magnesium wasting, Generalized-onset s... ORPHA:199343
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Hypomagnesemia 2, Renal
Renal magnesium wasting, Renal insufficiency, Hypokalemia, Hypocalciuria, Seizure, Hypomagnesemia OMIM:154020
Hypomagnesemia 1, Intestinal
Seizure, Hypocalcemia, Hypomagnesemia OMIM:602014
Hypomagnesemia 4, Renal
Seizure, Hypomagnesemia OMIM:611718
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Iris coloboma, Microcoria OMIM:616428
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Nephrocalcinosis, Pancreatitis, Hypocalcemic seizures, Hypermagnesemia, H... ORPHA:405
Episodic Ataxia, Type 1
Elevated circulating creatine kinase concentration, Tremor, Slurred speech, Spastic gait, Babinsk... OMIM:160120
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Nephrocalcinosis, Decreased glomerular filtration rate, Hyperp... OMIM:601198
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypokalemia, Seizure, Hypocalcemia, Polyuria, Hyponatremia, Hypomagnesemia OMIM:620152
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Seizure, Hypomagnesemia OMIM:616418
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, 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
Hypocalcemic seizures, Hyperphosphatemia, Hypercalciuria, Hypocalcemia, Hypomagnesemia ORPHA:2239
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... OMIM:610202
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Hyperuricemia, Renal magnes... OMIM:248250
Morquio Syndrome C
Corneal opacity OMIM:252300
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Enuresis, Increased circulating renin level, Ataxia, Hypokalemia, Dysdiadochokinesis, Renal sodiu... OMIM:612780
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
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
Hyperphenylalaninemia, Transient hyperphenylalaninemia, Tremor, Hypertonia, Elevated urinary 7-bi... OMIM:264070
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia OMIM:613882
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer... OMIM:618963
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... ORPHA:98960
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Nephrocalcinosis, Renal magnesium wasting, Hypermagnesiuria, ... OMIM:248190
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Leukopenia, Hyperuricemia, Anemia, Chronic kidney disease, Increased blood urea nitr... OMIM:613845
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:136120
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... OMIM:602482
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypermagnesiuria, Hyperphosphatemia, Writer's cramp, Hypercalciuria, Hypocalcem... ORPHA:428
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Aniridia 1
Cataract, Ectopia pupillae, Ectopia lentis, Chorioretinal hypopigmentation, Corneal erosion, Ante... OMIM:106210
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity 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
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Gitelman Syndrome
Enuresis, Increased circulating renin level, Ataxia, Renal magnesium wasting, Hypokalemia, Hypoca... OMIM:263800
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Myoclonic spasms, Hyperkinetic movements, Nephrocalcinosis, Abnormal renal tubular resorption, Hy... ORPHA:73224
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... OMIM:614561
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Parkinsonism, Oculogyric cri... ORPHA:1578
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Thrombocythemia 3
Thrombocytosis OMIM:614521
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Ring Dermoid Of Cornea
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... OMIM:180550
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, In... ORPHA:398063
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Elevated circulating creatine kinase concentration OMIM:160565
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Bartter Syndrome, Type 1, Antenatal
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Nephrocalcinosis, Increased u... OMIM:601678
Sandhoff Disease, Adult Form
Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Tremor, Dysphagia... ORPHA:309169
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea OMIM:217300
Axenfeld-Rieger Syndrome, Type 1
Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia... OMIM:180500
Neuroleptic Malignant Syndrome
Leukocytosis, Oculogyric crisis, Elevated circulating creatine kinase concentration, Nausea, Hype... ORPHA:94093
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Facial Spasm
Anisocoria OMIM:134300
Neurodevelopmental Disorder With Language Delay And Seizures
Seizure, Hypomagnesemia OMIM:619908
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Opacification of the corneal stroma, Corneal opacity, Corneal dystrophy OMIM:608470
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Febrile seizure (within the age range of 3 months to 6 years), Elevated circ... OMIM:612736
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Combined Oxidative Phosphorylation Deficiency 55
Enuresis, Hypophosphatemia, Focal-onset seizure, Anemia, Renal Fanconi syndrome, Hypophosphatemic... OMIM:619743
Colchicine Poisoning
Myocarditis, Abnormal blood ion concentration, Leukocytosis, Hypophosphatemia, Renal insufficienc... ORPHA:31824
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Crusting erythem... ORPHA:37042
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Abnormal circulating calcium concentration, Urinary incont... OMIM:213600
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemoglobin con... OMIM:616689
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Winchester Syndrome
Corneal opacity OMIM:277950
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy ORPHA:293621
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Chorioretinal coloboma, Corneal opacity, Posterior embryotoxon ORPHA:1473
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Distal Renal Tubular Acidosis
Hypocitraturia, Nephrocalcinosis, Hemolytic anemia, Decreased glomerular filtration rate, Hyperma... ORPHA:18
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Distal Deletion 6P
Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia... ORPHA:96125
Hypocalciuric Hypercalcemia, Familial, Type I
Pancreatitis, Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia OMIM:145980
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Anemia, Xerostomia, Hypokalemia, Diarrhea, Hypocalcemia, Vomiting, Hypomagnesemia OMIM:175500
Saccharopinuria
Hyperammonemia, Hyperlysinuria, Spastic diplegia, Elevated plasma citrulline, Tremor, Seizure, Ga... ORPHA:3124
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Ectopia pupillae, Microcornea OMIM:615877
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased... OMIM:145981
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... OMIM:217700
Sickle Cell Anemia
Leukocytosis, Reticulocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Sclerocornea, Developmental c... OMIM:604229
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein conc... OMIM:604416
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Bartter Syndrome Type 4
Acute kidney injury, Hypochloremia, Increased circulating renin level, Nephrocalcinosis, Chronic ... ORPHA:89938
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Kenny-Caffey Syndrome, Type 1
Seizure, Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Atonic seizure, Myoclonus, Involuntary movements OMIM:611092
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... ORPHA:86841
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Hypertriglyceridemia, Seizure, Tremor,... OMIM:615924
Epilepsy, Progressive Myoclonic, 6
Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Elevated circulating creati... OMIM:614018
Hyperphenylalaninemia, Bh4-Deficient, C
Hyperphenylalaninemia, Tremor, Dysphagia, Seizure, Myoclonus, Hypertonia, Choreoathetosis, Dystonia OMIM:261630
X-Linked Recessive Ocular Albinism
Astigmatism, Abnormal pupil morphology, Iris hypopigmentation, Ocular albinism ORPHA:54
Heme Oxygenase 1 Deficiency
Chemosis, Asplenia, Hemolytic anemia, Elevated circulating C-reactive protein concentration, Thro... OMIM:614034
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Seizure, Hemiballismus OMIM:616921
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Generalized myoclonic seizure, Tremor, Atonic seizure, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Bartter Syndrome, Type 2, Antenatal
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Nephrocalcinosis, Increased u... OMIM:241200
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Chorea, Tremor, Dyst... OMIM:618425
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... ORPHA:293603
Cystathioninuria
Cystathioninemia, Seizure, Nephrolithiasis, Cystathioninuria, Tremor ORPHA:212
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Gene... OMIM:617831
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Urinary incontinence, Urinary bladder sphincter dysfunction, Tremor, Seizure, Urinary urg... OMIM:600363
Orthostatic Hypotension 1
Nocturia, Seizure, Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Recurrent corneal erosions, Corneal ... ORPHA:98963
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis ORPHA:79414
Thyrotoxic Periodic Paralysis
Urinary retention, Decreased urinary potassium, Transient hypophosphatemia, Hyperkalemia, Episodi... ORPHA:79102
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Cataract 9, Multiple Types
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... OMIM:136800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia 43
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Tremor, Myoclonus OMIM:616187
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Seizure, Gait a... OMIM:607317
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma OMIM:148200
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Fasciculations OMIM:615048
Coats Disease
Leukocoria OMIM:300216
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Hypermanganesemia, Tremor, Bradykinesia, Or... ORPHA:521406
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Chorea, Tremor, Atonic seizure,... OMIM:618587
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144300
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Thrombocytosis, Splenomegaly, Hypoalbumi... OMIM:209950
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Pancreatitis, Renal insufficiency, Hypermagnesemia, Hypocalciuria, Multiple sma... OMIM:600740
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:601706
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Spasticity, Ataxia OMIM:611105
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Lens subluxation, Corneal opacity ORPHA:85167
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Elevated circulating phytanic acid concentration, Status epilepticus, Focal-onset sei... OMIM:614307
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... OMIM:128230
Uremic Pruritus
Renal hypophosphatemia, Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Chr... ORPHA:94059
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Secretory diarrhea, Hypertriglyceridemia, Renal dysplasia, Hypomagnesemia, Hypocalc... OMIM:618183
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, Ataxia, Choreoathetosis, Tremor, Se... OMIM:612126
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Hemiplegia, Tremor, Seizure OMIM:141500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Dysphagia, Ataxia OMIM:615945
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Corneal opacity, ... ORPHA:98974
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog... ORPHA:98962
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Buphthalmos, Persistent pupillary membrane, Shallow anterior ch... OMIM:221900
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Para... ORPHA:2197
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Hepatosplenomegaly, Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Eyelid... ORPHA:2590
Norrie Disease
Cataract, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacity, Opacifi... OMIM:310600
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Autosomal Dominant Keratitis
Cataract, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal corneal limbus morpholog... ORPHA:2334
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Chronic kidney disease, Renal insufficiency, Hypermagnesemia, Co... ORPHA:469
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor ... OMIM:615362
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Myoclonus, Action tremor OMIM:614937
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Corneal scarring, Cornea verticilla... ORPHA:171673
Gitelman Syndrome
Focal-onset seizure, Decreased urinary potassium, Hypokalemia, Constipation, Renal potassium wast... ORPHA:358
Macular Corneal Dystrophy
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... ORPHA:98969
Cystinosis, Nephropathic
Hypokalemia, Reduced blood urea nitrogen, Hypomagnesemia, Proteinuria, Renal Fanconi syndrome, Ne... OMIM:219800
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Myoclonic seizure, Tremor, Atonic seizure, Generalized non-motor (absen... OMIM:616421
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet... OMIM:308990
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Corneal arcus, N... OMIM:245900
Developmental And Epileptic Encephalopathy 97
Tremor, Seizure, Epileptic spasm OMIM:619561
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Chorioretinal coloboma, Corneal opacity ORPHA:137902
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ectopia pupillae, Hemolytic anemia, Astigmatism, Elevated circulating creatine kinase concentrati... OMIM:175780
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Focal-onset seizure, Ataxia, Generalized-onset seizure, Febrile seizure (with... ORPHA:36387
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity, Splenomegaly ORPHA:79292
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Hypertriglyceridemia, D... ORPHA:650
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Aspiration pneumonia, Limb fasciculations, Elevated... ORPHA:90117
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Lower limb spasticity, Spastic dysarthria, Spastic ataxia, Tremor, Seizure, Dysphagi... ORPHA:251282
Pearson Syndrome
Hyperalaninemia, Hypokalemia, Lacticaciduria, Chronic diarrhea, Hypomagnesemia, Proteinuria, Reti... ORPHA:699
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Hypercalcemia, Infantile, 2
Hypophosphatemia, Nephrocalcinosis, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalc... OMIM:616963
Developmental And Epileptic Encephalopathy 42
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-cloni... OMIM:617106
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Lower limb spasticity, Parkinsonism with favorable response to dopaminergic medicat... OMIM:260300
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Alexander Disease
Microcoria OMIM:203450
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Recurrent corneal erosions, Corneal scarring, Keratoconjunctivit... ORPHA:293381
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Anterior Segment Dysgenesis 1
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... OMIM:107250
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Seizure, Neonatal hyperbilirubinemia, Tremor ORPHA:79234
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber OMIM:251750
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Focal-onset seizure, Focal impaired awareness seizure, Oculogyric crisis, Bil... ORPHA:330050
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Urinary incontinence, Bilateral tonic-clonic seizure, Chorea, Tremor, Dysph... OMIM:618093
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Ataxia, Transient hyperphenylalaninemia, Tremor, Seizure, Choreoa... OMIM:612716
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
Helix Syndrome
Renal insufficiency, Xerostomia, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Po... OMIM:617671
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,... OMIM:613270
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Generalized-onset seizure, Generalized myoclonic seizure, Elevated circulating cr... OMIM:159950
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Tremor,... OMIM:616366
Spinocerebellar Ataxia 40
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... OMIM:616053
Congenital Rubella Syndrome
Cataract, Anemia, Thrombocytopenia, Corneal opacity, Aplasia/Hypoplasia of the iris, Splenomegaly ORPHA:290
Uveal Melanoma
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Inferior lens subluxation ORPHA:39044
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Foc... ORPHA:216873
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia OMIM:618223
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Short Syndrome
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hypoplasia of the ... ORPHA:3163
Urocanic Aciduria
Urocanic aciduria, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Action trem... ORPHA:210128
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure,... OMIM:617836
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Fasciculations, Upper moto... ORPHA:276435
Brittle Cornea Syndrome 2
Corneal perforation, Megalocornea, Keratoglobus, Decreased corneal thickness, Keratoconus, Sclero... OMIM:614170
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancyto... ORPHA:824
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Hsd10 Disease
Ataxia, Rigidity, Abnormal urinary acylglycine profile, Tremor, Seizure, Dysphagia, Elevated urin... ORPHA:391417
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Phacoanaphylactic Uveitis
Panuveitis, Anterior chamber flare grade 1+, Abnormal pupil morphology, Posterior uveitis, Abnorm... ORPHA:209959
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased circulating renin level, Hypokalemia, Abnormal magnesium concentration, Increased serum... OMIM:241150
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Hyperphenylalaninemia, Limb hypertonia, Rigidity, Tremor, Dysphagia, Seiz... OMIM:233910
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus, Writer's cramp OMIM:159900
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Hyperphenylalaninemia, Ataxia, Limb hypertonia, Rigidity, Tremor, Dysphagia, Seizur... OMIM:261640
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Generalized-onset seizure, Decreased circulating renin level, Decreased serum cre... OMIM:300539
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... ORPHA:240103
Glutathionuria
Urinary incontinence, Dysdiadochokinesis, Tremor, Constipation, Action tremor, Eczema, Glutathion... OMIM:231950
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Hemiballismus, Frequent falls, Chorea ORPHA:494526
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Ataxia, Lower limb spasticity, Tr... OMIM:617916
Dravet Syndrome
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaire... ORPHA:33069
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... OMIM:617284
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Cogan Syndrome
Keratitis, Leukocytosis, Anemia, Uveitis, Thrombocytosis, Conjunctivitis ORPHA:1467
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Gastroesophageal reflux, Abnormal pyramidal sign, Parkinso... OMIM:613135
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Apraxia, Bilateral tonic-clonic seizure, Tremor, Atonic seizure, G... OMIM:617810
Dopa-Responsive Dystonia
Parkinsonism, Leg dystonia, Poor coordination, Urinary incontinence, Oculogyric crisis, Generaliz... ORPHA:255
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Anemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Writer's cramp, Tremor, Dysphagia, Cho... OMIM:606159
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Iris coloboma, Posterior lenticonus ORPHA:231736
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tonic seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Rigidity, Tremor, G... OMIM:618090
Hypermanganesemia With Dystonia 1
Parkinsonism, Polycythemia, Abnormality of extrapyramidal motor function, Hypermanganesemia, Rigi... OMIM:613280
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Truncal ataxia ORPHA:363710
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Renal tubular acidosis, Vomiting, Hypercalcemia OMIM:239199
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Parkinsonism, Bowel incontinence, Urinary incontinence, Head titubation, Rigidity, Tr... OMIM:618877
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting, Vomiting OMIM:203400
Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic spasms, Spasticity, Ataxia, Generalized-onset seizure, Clumsiness, Chorea, Tremor, Seiz... ORPHA:79263
Edict Syndrome
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea OMIM:614303
Persistent Hyperplastic Primary Vitreous
Cataract, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Corneal opacity, ... ORPHA:91495
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Polyuria, Vomiting... OMIM:143880
Corticobasal Syndrome
Limb dystonia, Limb myoclonus, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... ORPHA:454887
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Tremor, Seizure, Epilepsia partialis continua, Myoclonus, Genera... OMIM:612016
Dent Disease 2
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Elevated circulating creatine kinase ... OMIM:300555
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Ankle clonus, Tremor, Babinski sign, Truncal ataxia OMIM:615768
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma OMIM:616722
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Thymus hyperplasia, Limbal dermoid, Splenomegaly, Heterochro... ORPHA:2969
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Renal phosphate wasting, Hypouricemia, Hypokalemia, Proximal tubulopathy, Pr... ORPHA:411634
Atopic Keratoconjunctivitis
Chemosis, Keratoconjunctivitis sicca, Corneal opacity, Keratitis, Corneal neovascularization ORPHA:163934
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal physiology, Decreased glomerular filtration rate, Chronic kid... ORPHA:94088
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Astigmatism, Chorioretinal lacunae, Corneal opacity, Myopic as... OMIM:152950
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
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
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus ORPHA:98763
Xeroderma Pigmentosum, Complementation Group G
Tremor, Infantile spasms, Spasticity, Ataxia OMIM:278780
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Descemet Membrane Folds, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Neuronal Intranuclear Inclusion Disease
Ataxia, Urinary incontinence, Rigidity, Tremor, Seizure, Episodic vomiting OMIM:603472
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting, Diarrhea, Vomiting OMIM:264350
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Seizure, Myoclonus, Dystonia ORPHA:139485
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Parkinsonism, Clumsiness, Postural tremor, Focal motor seizure, Bilateral tonic-clonic seizure, R... OMIM:619911
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Coenzyme Q10 Deficiency, Primary, 9
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Myoclonus, Lower limb spas... OMIM:619028
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Dysmetria OMIM:618387
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia OMIM:612286
Spinocerebellar Ataxia 7
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... OMIM:164500
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Tremor, Chilblains, Thrombocytopenia, Splenomegaly, Dystonia OMIM:615010
Spinocerebellar Ataxia 18
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria OMIM:607458
Dystonia 12
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dysphagia, Dystonia OMIM:128235
Familial Dysautonomia
Corneal erosion, Abnormal pupil morphology, Corneal opacity, Hyponatremia, Heterochromia iridis ORPHA:1764
Lopes-Maciel-Rodan Syndrome
Spasticity, Abnormal pyramidal sign, Ankle clonus, Focal impaired awareness seizure, Tremor, Seiz... OMIM:617435
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93476
Hereditary Amyloidosis With Primary Renal Involvement
Decreased glomerular filtration rate, Nausea, Hepatosplenomegaly, Decreased circulating apolipopr... ORPHA:85450
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Elevated circulating C-reactive protein concentration, Thrombocy... OMIM:615934
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased serum creatinine, Hypohomocysteinemia, Tremor, Recurre... OMIM:617744
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Frequent falls, Limb dystonia, Aspiration pneumonia, Han... ORPHA:53351
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... OMIM:619652
Cystinosis, Adult Nonnephropathic
Corneal crystals, Elevated circulating creatinine concentration OMIM:219750
Sialidosis Type 2
Corneal opacity, Splenomegaly ORPHA:87876
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Abnormal circulating phytanic acid concentration ORPHA:247815
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Coenzyme Q10 Deficiency, Primary, 1
Status epilepticus, Right hemiplegia, Proteinuria, Ataxia, Anemia, Elevated circulating creatine ... OMIM:607426
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Sclerocornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium OMIM:619339
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Corneal opacity, Developmental glaucoma ORPHA:1064
Nephronophthisis 11
Anisocoria, Anemia OMIM:613550
Sitosterolemia 1
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... OMIM:210250
Scheie Syndrome
Corneal opacity OMIM:607016
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Proteinuria, Glomerulopathy, Generalized-onset seizure, Postural tremor, Renal insufficiency, Nep... OMIM:254900
Parkinsonism-Dystonia 2, Infantile-Onset
Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Elevated urinary homovanilli... OMIM:618049
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Mercury Poisoning
Acute kidney injury, Hypokalemia, Tremor, Seizure, Nausea, Interstitial pneumonitis, Episodic vom... ORPHA:330021
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Parkinsonism, Clumsiness, Ankle clonus, Generalized dystonia, Scissor ... OMIM:617013
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor, Hyperkalemia OMIM:609153
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Anemia, Nephropathy, Nephrotic syndrome, Tremor, Photosensitive myoclonic seizure, H... ORPHA:1192
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Microphthalmia With Brain And Digit Anomalies
Cataract, Iris coloboma, Sclerocornea, Chorioretinal coloboma, Microcornea ORPHA:139471
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Urinary incontinence, Dysdiadoc... OMIM:617145
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Vomiting OMIM:602722
Intestinal Botulism
Mydriasis ORPHA:178481
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Tremor, Seizure, Bradykinesia, Dystonia, Spastic paraparesis ORPHA:329284
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tetraparesis, Limb dystonia, Status epilepticus, Abnormal pyramidal sign, Ataxia, Hyp... ORPHA:363400
Parkinson Disease 14, Autosomal Recessive
Spasticity, Parkinsonism, Eyelid myoclonus, Hand tremor, Hemiparesis, Axial dystonia, Clumsiness,... OMIM:612953
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Elevated circulating alpha-fetoprotein conce... ORPHA:64753
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Fanconi Renotubular Syndrome 2
Proteinuria, Hypophosphatemia, Decreased glomerular filtration rate, Glycosuria, Renal phosphate ... OMIM:613388
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity OMIM:617183
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Cogwheel rigidity, Ankle clonus, Scissor gait, Seizure, Bradykinesia, Resting tremor,... ORPHA:363654
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Glycosuria, Renal insufficiency, Hypokalemia, Renal tubular dysfunction, Impair... OMIM:134600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Renal phosphate wasting OMIM:612287
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Myopathy With Extrapyramidal Signs
Frequent falls, Status epilepticus, Leukocytosis, Ataxia, Clonus, Choreoathetosis, Clumsiness, Hy... OMIM:615673
Sneddon Syndrome
Hemiparesis, Nephropathy, Chorea, Tremor, Seizure ORPHA:820
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Ataxia, Urinary incontinence, Spastic ataxia, Tremor, Dysphagia, Urinary... OMIM:616795
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Dysphagia, Elevated circulating creatine kinase concentration, Fasciculations OMIM:313200
Developmental And Epileptic Encephalopathy 4
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:612164
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... ORPHA:99657
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Ataxia, Renal insufficiency, Decreased hemoglobin concentratio... ORPHA:713
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Tre... ORPHA:397946
Non-Functioning Paraganglioma
Elevated urinary epinephrine, Tremor, Elevated urinary norepinephrine, Nausea, Elevated urinary d... ORPHA:94080
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyperchloriduria, Decreased glomerular filtration rate, Hypernatriuria, Increased ... OMIM:613090
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Seizure, Renal salt wasting, Hyponatremia, Hyperkalemia OMIM:614736
Developmental And Epileptic Encephalopathy 46
Limb hypertonia, Generalized-onset seizure, Tremor, Seizure, Dysphagia OMIM:617162
Wilson Disease
Hemolytic anemia, Hypouricemia, Osteoarthritis, Rigidity, Renal tubular dysfunction, Dystonia, Li... OMIM:277900
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Seizure, Bradykinesia, Cerebral palsy, Dyst... ORPHA:70594
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Hypercholesterolemia, Familial, 3
Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Ataxia, Parkinsonism with favorable response to dopaminerg... OMIM:606693
Spinocerebellar Ataxia 23
Limb ataxia, Tremor, Gait ataxia, Babinski sign, Dysmetria OMIM:610245
Macrophthalmia, Colobomatous, With Microcornea
Iris coloboma, Shallow anterior chamber, Chorioretinal coloboma, Flat cornea, Microcornea OMIM:602499
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Seizure, Gait ataxia, Dysmetria OMIM:614831
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Abnormal pyramidal sign, Proteinuria, Ataxia, Anemia, Glycosuria, Renal Fanconi syndrome, Renal t... ORPHA:436271
Spontaneous Periodic Hypothermia
Ataxia, Skin rash, Tremor, Seizure, Diarrhea ORPHA:29822
Pyruvate Dehydrogenase E1-Alpha Deficiency
Hyperalaninemia, Tremor, Seizure, Myoclonus, Episodic ataxia, Increased serum pyruvate, Choreoath... OMIM:312170
Alpha-Mannosidosis
Cataract, Corneal opacity, Splenomegaly ORPHA:61
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Leukodystrophy, Hypomyelinating, 6
Spasticity, Oculomotor apraxia, Ataxia, Rigidity, Tremor, Seizure, Choreoathetosis, Dystonia OMIM:612438
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Cogwheel rigidity, Paraparesis, Truncal ti... OMIM:607483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m... OMIM:613150
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Increased circulating renin level, Hyperkalemia OMIM:610600
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Seizure, Spastic paraplegi... ORPHA:477673
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma, Corneal scarring, Buphthalmos, Chorioretinal coloboma OMIM:212550
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Gastrointestinal Defects And Immunodeficiency Syndrome 1