Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
abnormal iris morphology Trpm7tm1b(KOMP)Wtsi HET   Early adult 4.11×10-06
preweaning lethality, complete penetrance Trpm7tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal placement of pupils Trpm7tm1b(KOMP)Wtsi HET Early adult 5.01×10-05
corneal opacity Trpm7tm1b(KOMP)Wtsi HET   Early adult 7.30×10-05
embryonic lethality prior to tooth bud stage Trpm7tm1b(KOMP)Wtsi HOM   E12.5 0.00
irregularly shaped pupil Trpm7tm1b(KOMP)Wtsi HET   Early adult 3.98×10-05
thrombocytosis Trpm7tm1b(KOMP)Wtsi HET Early adult 9.92×10-06
increased circulating alkaline phosphatase level Trpm7tm1b(KOMP)Wtsi HET Early adult 1.53×10-12

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.72% (4 of 558)
aorta 0.18% (1 of 552)
bone 0.0%
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
esophagus 1.57% (6 of 381)
eye 0.0%
gall bladder 0.0%
heart 0.19% (1 of 540)
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 549)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
parathyroid gland 0.19% (1 of 528)
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
skeletal muscle 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
striatum 0.55% (3 of 547)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
trachea 0.55% (3 of 547)
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


XRay Images Whole Body Lateral Orientation

11 Images


XRay Images Whole Body Dorso Ventral

11 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
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
Matching phenotypes Source
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, 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
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Generalized-onset seizure, Renal magnesium wasting, Renal... ORPHA:564178
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Dermoids Of Cornea
Corneal opacity OMIM:304730
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Generalized-onset seizure, Polyuria, Renal magnesium wasting, Renal potassium wastin... OMIM:618314
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
East Syndrome
Hypokalemia, Action tremor, Generalized-onset seizure, Increased circulating renin level, Enuresi... ORPHA:199343
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Hypomagnesemia 2, Renal
Hypokalemia, Renal insufficiency, Renal magnesium wasting, Hypomagnesemia, Seizure, Hypocalciuria OMIM:154020
Familial Hypocalciuric Hypercalcemia
Parathormone-independent increased renal tubular calcium reabsorption, Hypocalcemic seizures, Nep... ORPHA:405
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia, Seizure OMIM:602014
Hypomagnesemia 4, Renal
Hypomagnesemia, Seizure OMIM:611718
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia, Seizure OMIM:616418
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Elevated circulating creatine kinase concentration, Babinski sign, ... OMIM:160120
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Intention tremor, Polyuria, Enuresis, Renal salt ... OMIM:612780
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:2239
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Morquio Syndrome C
Corneal opacity OMIM:252300
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Corneal opacity ORPHA:351
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Elevated urinary 7-biopterin leve... OMIM:264070
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Opacification of the corneal strom... OMIM:136120
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hype... OMIM:613845
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypercalciuria, Chron... OMIM:248190
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Autosomal Dominant Hypocalcemia
Cortical myoclonus, Hypermagnesiuria, Nephrocalcinosis, Hypercalciuria, Hypocalcemia, Eczema, Fat... ORPHA:428
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Chorioretinal hypopigmentation, ... OMIM:106210
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Gitelman Syndrome
Hypokalemia, Paralysis, Increased circulating renin level, Constipation, Vomiting, Polyuria, Enur... OMIM:263800
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology OMIM:160565
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Parkinsonism, Oculogyric crisis, Hyperphenylalaninemia, Cerebral palsy, Abnormal circ... ORPHA:1578
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Thrombocythemia 3
Thrombocytosis OMIM:614521
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal resorption, Nephrocalcinosis, Myoclonic spasms, Hypermagnesiuria, Hypercalciuria, ... ORPHA:73224
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Macrocytic anemia, Normocytic anemia, Hypocalcemia, Chronic d... ORPHA:398063
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypercalcemia,... OMIM:601678
Neuroleptic Malignant Syndrome
Nausea, Proteinuria, Extrapyramidal muscular rigidity, Dysphagia, Hypomagnesemia, Thrombocytopeni... ORPHA:94093
Intellectual Developmental Disorder, Autosomal Recessive 6
Dystonia, Involuntary movements, Seizure, Myoclonus, Tremor OMIM:611092
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Colchicine Poisoning
Oliguria, Hypokalemia, Nausea, Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypo... ORPHA:31824
Anisocoria OMIM:106240
Facial Spasm
Anisocoria OMIM:134300
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure... OMIM:615400
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Elevated circulating creatine kinase concentration, Generalized non-motor... OMIM:614018
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypercalcemia, Hypercalciuria, Pancreatitis, Hypermagnesemia, Hypocalciuria OMIM:145980
Winchester Syndrome
Corneal opacity OMIM:277950
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Distal Renal Tubular Acidosis
Hypokalemia, Nephrocalcinosis, Hypermagnesiuria, Renal cyst, Nephrolithiasis, Paralysis, Hypocitr... ORPHA:18
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Dystonia, Choreoathetosis, Tremor, Dysphagia, Seizure, Myoclonus, Hyperphenylalaninemia OMIM:261630
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Opacification of the corneal stroma, Normochromic anemia,... OMIM:245900
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia, Diarrhea, Xerostomia, Vomiting OMIM:175500
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Nephrotic syndrome, Generalized-onset seizure, Intention tremor, Proteinuria, Gait... OMIM:254900
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypercalc... OMIM:145981
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Spastic dipl... ORPHA:3124
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Seizure, Hyperkinetic movements, Tremor OMIM:616921
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Thrombocytosis, Coombs-positive hemolytic anemia, E... OMIM:614034
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Increased circulating renin level, Ac... ORPHA:89938
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Elevated circulating C-react... OMIM:604416
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased seru... OMIM:241200
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia, Seizure OMIM:244460
Cataract 21, Multiple Types
Microcornea, Iris coloboma, Cortical pulverulent cataract, Cerulean cataract OMIM:610202
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Hypoproteinemia, Decreased prop... ORPHA:90362
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hypertriglyceridemia, Seizur... OMIM:615924
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Bilateral tonic-clonic seizure, Hyperkinetic movements, Tr... OMIM:618425
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Cystathioninuria, Nephrolithiasis, Cystathioninemia, Seizure, Tremor ORPHA:212
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal-onset seizure, Paroxysmal dystonia, Seizure, Writer's cram... OMIM:608105
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Motor stereotypy... ORPHA:98807
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Paralysis, Urinary retention, Transient hypophosphatemia, Decreased urinary... ORPHA:79102
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Hyponatremia, Hypocalcemia, Polyuria, Decreased circulating antibody level, Renal d... OMIM:618183
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Spastic paraplegia, Lower limb spasticity, Urinary urgency, Urinary bladder sphinct... OMIM:600363
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Tremor OMIM:615127
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Atonic seizure, Generalized myoclonic seizure, Babinski sign, Tremor OMIM:612437
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Spasticity, Seizure, Status epilepticus, Tremor OMIM:614307
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypercalc... OMIM:600740
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Tremor, Ataxia, Gait ataxia, Generalized non-motor (absence) seizu... OMIM:617831
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Bradykinesia, Tremor, Hypermanganesemia, Scissor gait, Spas... ORPHA:521406
Coats Disease
Leukocoria OMIM:300216
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Stereotypical hand wringing, Seizure, Tremor OMIM:619561
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypoalbumi... OMIM:209950
Tremor OMIM:231950
Uremic Pruritus
Stage 5 chronic kidney disease, Recurrent skin infections, Hypercalcemia, Increased blood urea ni... ORPHA:94059
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:615048
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Epilepsy, Progressive Myoclonic 7
Seizure, Ataxia, Myoclonus, Tremor OMIM:616187
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation, Hypotriglyceridemia ORPHA:85167
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Transient hyperphenylalaninemia, Bradykinesia, Cogwheel... OMIM:128230
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Dysp... OMIM:261640
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Seizure, Tremor OMIM:141500
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Gait ataxia, Gen... OMIM:618587
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Hereditary Fructose Intolerance
Nausea, Constipation, Chronic kidney disease, Hyperuricemia, Renal insufficiency, Hypermagnesemia... ORPHA:469
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Spinocerebellar Ataxia 37
Dysphagia, Frequent falls, Ataxia, Tremor OMIM:615945
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Gitelman Syndrome
Hypokalemia, Proteinuria, Constipation, Hashimoto thyroiditis, Iron deficiency anemia, Hypomagnes... ORPHA:358
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Seizure, Tremor OMIM:615528
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Atonic seizure, Recurrent aspiration pneumonia, Generalized myo... ORPHA:2590
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Babinski sign, Seizure, Myoclonus, Tremor OMIM:615362
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Fatiguable weakness of proximal limb muscles, Elevated circulating creatine ... ORPHA:90117
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Pearson Syndrome
Glycosuria, Exocrine pancreatic insufficiency, Hypokalemia, Lacticaciduria, Pancytopenia, Protein... ORPHA:699
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Abnormal B cell morphology OMIM:618223
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Corneal opacity, Hemolytic anemia, Hypertr... ORPHA:650
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Bradyki... ORPHA:36387
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Hypophosph... OMIM:616963
Fish-Eye Disease
Corneal opacity, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxi... OMIM:612716
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Seizure, Tremor ORPHA:79234
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Helix Syndrome
Hypokalemia, Nephrolithiasis, Polyuria, Renal insufficiency, Hypermagnesemia, Xerostomia, Hypocal... OMIM:617671
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor OMIM:601068
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Elevated circulating creatine kinase concentration... OMIM:612953
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria OMIM:263100
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Tremor, Limb dystonia, Upp... ORPHA:216873
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Urinary incontinence, Ataxia, Gait ataxia, Chorea, Dysphagia, ... OMIM:618093
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Anemia, Aplasia/Hypoplasia of the iris, Thrombocytopenia ORPHA:290
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia, Renal phosphate wasting OMIM:241519
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Uveal Melanoma
Zonular cataract, Iris melanoma, Mydriasis, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Seizure, Ataxia, Tremor OMIM:617862
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Generalized-onset seizure, Fasciculations, Generalized myoclonic seizure, Oral-ph... OMIM:159950
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Thrombocyto... ORPHA:824
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Urocanic aciduria, Abnormal circulating histidine concentrati... ORPHA:210128
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Myoclonic absence seizure, Generalized myoclonic seizure, Bradykinesia, Ataxia, Rigidit... OMIM:617836
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Nausea, Increased serum prostaglandin E2, Increased circulating renin level, Proxima... OMIM:241150
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Tremor OMIM:613608
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal corneal endothelium morphology, Posterior uveitis, Anterio... ORPHA:209959
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Dysphagia, Tremor OMIM:182920
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Constipation, Gas... OMIM:613135
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Tremor, Limb hypertonia, Rigidity, Dysphagia, Seizure, Hyperkinetic mo... OMIM:233910
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Oculogyric crisis, Generalized myoclonic seizure, Focal-onset seizure, Focal impaired a... ORPHA:330050
Hsd10 Disease
Abnormal urinary acylglycine profile, Choreoathetosis, Spastic paraparesis, Elevated urinary 3-hy... ORPHA:391417
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dystonia, Gait ataxia, Dy... ORPHA:71517
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure, Ataxia, Tremor OMIM:616421
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Cataract, Corneal opacity OMIM:613153
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Elevated circulating creatine kinase concentration, Tongue fasciculations, Dyspha... ORPHA:276435
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Constipation, Vomiting, Leg dyst... ORPHA:255
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Seizure OMIM:614736
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Ataxia, Tremor OMIM:618951
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Rigidity, Babinski sign, Postural tremor, Parkinsonism with favorable res... ORPHA:314632
Cogan Syndrome
Leukocytosis, Uveitis, Thrombocytosis, Anemia, Keratitis, Conjunctivitis ORPHA:1467
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Generalized myoclonic seizure, Rigidity, Seizure, Tremor OMIM:618090
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Tremor OMIM:612016
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Hypernatriuria, Decreased circulating renin level, Seizure OMIM:300539
Developmental And Epileptic Encephalopathy 56
Action tremor, Poor coordination, Ataxia, Generalized non-motor (absence) seizure, Focal motor se... OMIM:617665
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Decreased circulating ferritin concentration, Blepharosp... OMIM:606159
Parkinson Disease 22, Autosomal Dominant
Constipation, Bradykinesia, Resting tremor, Tremor OMIM:616710
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Dysphagia, Seizu... OMIM:617435
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Hypermanganesemia, Rigidity, Increased... OMIM:613280
Dravet Syndrome
Photosensitive myoclonic seizure, Action tremor, Focal aware seizure, Febrile seizure (within the... ORPHA:33069
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... OMIM:300894
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Seizure, Tremor OMIM:614947
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Aniridia 2
Cataract, Aniridia OMIM:617141
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Vomiting OMIM:239199
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Myoclonic spasms, Dystonia, Generalized-onset seizure, Ataxia, Spasticity, Chorea, Dys... ORPHA:79263
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Hypoplasia of the iris, Posterior embryotoxon, ... OMIM:180500
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Aicardi-Goutieres Syndrome 6
Rigidity, Dystonia, Hemolytic anemia, Tremor OMIM:615010
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Gastroparesis, ... OMIM:618877
Dent Disease 2
Nephrocalcinosis, Hypercalciuria, Proximal tubulopathy, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Tremor OMIM:618387
Norrie Disease
Cataract, Shallow anterior chamber, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:310600
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor ORPHA:363710
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... ORPHA:98762
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Vomiting OMIM:203400
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Abnormal circulating phytanic acid concentration ORPHA:247815
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Atonic seizure, Apraxia, Gait ataxia, Spasticity, Generalized non-motor (absence) seiz... OMIM:617810
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... OMIM:270500
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Corneal opacity, Catara... OMIM:152950
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Ankle clonus OMIM:615768
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Spasticity, Infantile spasms, Tremor OMIM:278780
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Elevated circulating creatinine concentration, Proteinuria, Hypouricemia... ORPHA:411634
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Splenomegaly, Thymus hyperplasia, Abnormal pupil morphology, Limb... ORPHA:2969
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Seizure, Myoclonus, Tremor ORPHA:139485
Neuronal Intranuclear Inclusion Disease
Ataxia, Rigidity, Episodic vomiting, Urinary incontinence, Seizure, Tremor OMIM:603472
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Urinary urgency, Rigidity OMIM:605909
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Seizure, Tremor OMIM:612438
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Wilson Disease
Glycosuria, Dystonia, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Os... OMIM:277900
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Dysphagia, Torticollis, Tremor OMIM:128235
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Seizure, Hypertonia ORPHA:33445
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis, Hypercalciuria, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting OMIM:612286
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
3-Methylglutaconic Aciduria, Type Viii
Dystonia, 3-Methylglutaconic aciduria, Tremor, Neutropenia, Seizure, Hypertonia OMIM:617248
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Thrombocytosis, Elevated circulating C-reactive protein concentration, Anemia, Lympho... OMIM:615934
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Dysphagia, Abnormali... OMIM:164500
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor OMIM:612126
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Seizure, Ataxia, Tremor OMIM:300983
Atypical Rett Syndrome
Hand apraxia, Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary mo... ORPHA:3095
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalized onset, ... OMIM:619028
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93476
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Hereditary Amyloidosis With Primary Renal Involvement
Nausea, Elevated circulating creatinine concentration, Gastrointestinal hemorrhage, Proteinuria, ... ORPHA:85450
Familial Dysautonomia
Heterochromia iridis, Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion ORPHA:1764
Urocanase Deficiency
Ataxia, Urocanic aciduria, Tremor OMIM:276880
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Nausea, Hematuria, ... ORPHA:94088
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting, Diarrhea, Vomiting OMIM:264350
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Hand tremor, Frequent falls, Resting tremor, Focal dystonia, Impaired oropharyn... ORPHA:53351
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Nephronophthisis 11
Anemia, Anisocoria OMIM:613550
Mercury Poisoning
Hypokalemia, Nausea, Dystonia, Acute kidney injury, Interstitial pneumonitis, Episodic vomiting, ... ORPHA:330021
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Sialidosis Type 2
Corneal opacity, Splenomegaly ORPHA:87876
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency,... OMIM:613388
Hypermanganesemia With Dystonia 2
Ankle clonus, Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia, Bradykinesia, Tremor, L... OMIM:617013
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Seizure, Tremor ORPHA:329284
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Ataxia, Limb dystonia, Gait ataxia, Poor motor coordinatio... ORPHA:363400
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Photosensitive myoclonic seizure, Hypertonia, Nephrotic syndrome, Proteinuria, Anemia, Nephropath... ORPHA:1192
Intestinal Botulism
Mydriasis ORPHA:178481
Scheie Syndrome
Corneal opacity OMIM:607016
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Vomiting OMIM:602722
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Oculomotor apraxia, Ataxia, Gait ataxia, Limb ataxi... OMIM:617145
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Developmental glaucoma, Thrombocytosis, Erythroid hypoplasia,... ORPHA:124
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Myoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Renal insufficiency, Reticulocytosis... ORPHA:713
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Methylmalonic aciduria, Vomiting, Methylmalonic acidemia, Thrombocytopenia, Ketonur... OMIM:251100
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor, Periodic paralysis OMIM:609153
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Hyperphosphaturia, Rena... ORPHA:99879
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, B... ORPHA:363654
Increased circulating ferritin concentration, Parkinsonism, Dystonia, Decreased serum iron, Bleph... ORPHA:48818
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia, Tremor OMIM:313200
Sneddon Syndrome
Chorea, Hemiparesis, Nephropathy, Seizure, Tremor ORPHA:820
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... OMIM:213600
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Urinary urgency, Dysphagia, Urinary incontinence, ... OMIM:616795
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Tremor OMIM:210000
Non-Functioning Paraganglioma
Nausea, Elevated urinary dopamine, Hematuria, Hypercalcemia, Vocal cord paralysis, Elevated urina... ORPHA:94080
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Hypercholesterole... ORPHA:64753
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor OMIM:616127
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Seizure, Tremor OMIM:619470
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Seizure, Diarrhea, Skin rash ORPHA:29822
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Subepithelial corneal opacities, Corneal dystrophy OMIM:221800
Revesz Syndrome
Leukocoria, Megalocornea, Aplastic anemia OMIM:268130
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Ataxia, Gait ataxia, Dysdiadochokinesis, Seizure, Tremor OMIM:614831
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Vomiting OMIM:143880
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Dystonia, Frequent falls, Choreoathetosis, Leukocytosis, Splenomegaly, Ataxia, Hy... OMIM:615673
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medicati... OMIM:606693
Developmental And Epileptic Encephalopathy 4
Spastic tetraplegia, Generalized myoclonic seizure, Spastic paraplegia, Generalized tonic seizure... OMIM:612164
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:603776
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Intention tremor, Fasciculations, Gait ataxia... ORPHA:397946
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy