Gene Summary

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

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
increased circulating alkaline phosphatase level Trpm7tm1b(KOMP)Wtsi HET Early adult 1.50×10-12
abnormal placement of pupils Trpm7tm1b(KOMP)Wtsi HET Early adult 5.58×10-05
preweaning lethality, complete penetrance Trpm7tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal iris morphology Trpm7tm1b(KOMP)Wtsi HET   Early adult 4.72×10-06
thrombocytosis Trpm7tm1b(KOMP)Wtsi HET Early adult 9.92×10-06
corneal opacity Trpm7tm1b(KOMP)Wtsi HET   Early adult 8.28×10-05
embryonic lethality prior to tooth bud stage Trpm7tm1b(KOMP)Wtsi HOM   E12.5 0.00
irregularly shaped pupil Trpm7tm1b(KOMP)Wtsi HET   Early adult 4.24×10-05

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... 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
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Status epilepticus, Renal magnesium wasting, Episodic hypokalemia, Hypom... ORPHA:564178
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea OMIM:249300
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
Renal potassium wasting, Polyuria, Status epilepticus, Hypokalemia, Renal magnesium wasting, Hypo... OMIM:618314
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
East Syndrome
Enuresis, Renal salt wasting, Action tremor, Seizure, Renal sodium wasting, Ataxia, Increased cir... ORPHA:199343
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Hypomagnesemia 2, Renal
Hypocalciuria, Seizure, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Seizure, Hypercalciur... OMIM:601198
Apolipoprotein A-I Deficiency
Splenomegaly, Corneal opacity, Anemia, Decreased HDL cholesterol concentration ORPHA:425
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Renal hypophosphatemia, Hypercalcemia, Reduced r... ORPHA:405
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Hypomagnesemia 1, Intestinal
Seizure, Hypocalcemia, Hypomagnesemia OMIM:602014
Hypomagnesemia 4, Renal
Seizure, Hypomagnesemia OMIM:611718
Hypomagnesemia, Seizures, And Mental Retardation 1
Seizure, Hypomagnesemia OMIM:616418
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wastin... OMIM:612780
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Morquio Syndrome C
Corneal opacity OMIM:252300
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, H... OMIM:248250
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Seizure, Hypomagnesemia, Hypermagnesiuria ORPHA:34527
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia, Elevated urinary 7-bi... OMIM:264070
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon OMIM:602482
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Corneal opacity ORPHA:351
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Fish-Eye Disease
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Opacification of the corneal stro... OMIM:136120
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Thrombocytopenia, Chronic kidney disea... OMIM:613845
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Winchester Syndrome
Corneal opacity OMIM:277950
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Gitelman Syndrome
Hypocalciuria, Nocturia, Renal potassium wasting, Constipation, Polyuria, Enuresis, Ataxia, Paral... OMIM:263800
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopigmentation, Ectopia... OMIM:106210
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology OMIM:160565
Thrombocythemia 2
Thrombocytosis OMIM:601977
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Autosomal Dominant Hypocalcemia
Cortical myoclonus, Hypocalcemia, Hypercalciuria, Fatigable weakness, Hypermagnesiuria, Hypomagne... ORPHA:428
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Chron... ORPHA:398063
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hyperkinetic movements, Myoclonic spasms, Hypocalcemic tetany, Bila... ORPHA:73224
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Hyperphenylalaninemia, Hypertonia, Abnormal circulating neopterin concentration, Abnormal... ORPHA:1578
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Renal potassium wasting, Constipation, Polyuria, Renal juxtaglomerular cell hypert... OMIM:601678
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Thrombocythemia 3
Thrombocytosis OMIM:614521
Anisocoria OMIM:106240
Facial Spasm
Anisocoria OMIM:134300
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Leukocytosis, Nausea, Hyponatremia, Abnormal blood ion concentrat... ORPHA:31824
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Hyperuricemia, Elevated circulating creatine ki... ORPHA:94093
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Mental Retardation, Autosomal Dominant 55, With Seizures
Seizure, Tremor, Gait ataxia, Generalized myoclonic seizure OMIM:617831
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Hypercalcemia, Pancreatitis, Nephrolithiasis OMIM:145980
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Epilepsy, Progressive Myoclonic, 6
Tremor, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Myoclonus, Elev... OMIM:614018
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Distal Renal Tubular Acidosis
Hypocitraturia, Hemolytic anemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal pota... ORPHA:18
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Tremor, Cystathioninuria, Seizure, Cystathioninemia, Nephrolithiasis ORPHA:212
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hematochezia, Xerostomia, Vomiting, Hypokalemia, Diarrhea, Anemia, Hypomagnesemia OMIM:175500
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Focal segmental glomerulosclerosis, Dysphagia, Nephropathy, Action ... OMIM:254900
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Opacification of the corneal stroma,... OMIM:245900
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Pancreatitis, Parathormone-independent increased r... OMIM:145981
Mental Retardation, Autosomal Recessive 6
Seizure, Tremor, Involuntary movements, Myoclonus OMIM:611092
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... OMIM:604416
Cataract, Iris coloboma ORPHA:79326
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Kenny-Caffey Syndrome, Type 1
Seizure, Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Frequent falls OMIM:616921
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Constipation, Polyuria, Renal juxtaglomerular cell hypert... OMIM:241200
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Tremor, Periodic hypokalemic paresis, Mildly elevated creatine kinase, Constipati... ORPHA:79102
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dysphagia, Hypertonia, Hyperphenylalaninemia, Seizure, Myoclonus, Choreoathetosis OMIM:261630
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Clumsiness, Acute kidney injury, Hyponatremia, Increased ur... ORPHA:89938
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Urinary bladder sphincter dysfunction, Tremor, Urinary incontinence, Seizure,... OMIM:600363
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Epilepsy, Progressive Myoclonic, 1B
Tremor, Atonic seizure, Babinski sign, Dysmetria, Generalized myoclonic seizure OMIM:612437
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypercalcemia, Pancreatitis, Parathormone-indep... OMIM:600740
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Seizure, Hypertriglyceridemia, Myoclonus, ... OMIM:615924
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Hepatosplenom... OMIM:209950
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Decreased circulating antibody level, Polyuria, Hyponatremia, Renal d... OMIM:618183
Coats Disease
Leukocoria OMIM:300216
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Tremor OMIM:231950
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Chronic kidney disease, H... ORPHA:94059
Epilepsy, Progressive Myoclonic 7
Seizure, Tremor, Myoclonus, Ataxia OMIM:616187
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Corneal arcus OMIM:144300
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:615048
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Torticollis OMIM:618425
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure OMIM:141500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Chore... OMIM:618587
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Constipation, Nausea, Hyperuricemia, Seizure, Chronic kidney d... ORPHA:469
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Nocturia, Diarrhea, Hypomagnesemia, Iron deficiency anemia, Renal ... ORPHA:358
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Hemolytic anemia, Polycoria, Corneal opacity, Hypoplasia of the iris, Ect... OMIM:175780
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Lcat Deficiency
Hypertriglyceridemia, Hemolytic anemia, Corneal opacity, Splenomegaly ORPHA:650
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Uveitis, Iris c... OMIM:221900
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia 37
Dysphagia, Tremor, Frequent falls, Ataxia OMIM:615945
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Babinski sign OMIM:615362
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Frequent falls, Atonic seizure, Eyelid myoclonus, Dysphagia, Seizure, Bilater... ORPHA:2590
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Fatiguable weakness of proximal limb muscles, Dysphagia, Abnormality of the urinary syste... ORPHA:90117
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Dysphagia, Hypertonia, Hyperphenylalaninemia, Ataxia, Bradykinesia, Seiz... OMIM:261640
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancytopenia, Anemia, Hypomagnesemia, Renal insuffici... ORPHA:699
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Abnormal B cell morphology OMIM:618223
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Hypermanganesemia, Scissor gait,... ORPHA:521406
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Febrile seizure (within the age range of 3 months to 6 years), Incoordination, Atonic sei... ORPHA:36387
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Seizure, Tremor, Stereotypy, Ataxia OMIM:617862
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Focal hemifacial clonic seizure, Focal-onset seizure, Seizure, Myoclonus OMIM:608105
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Seizure, Parkinsonism, Rigidity, Spasticity OMIM:615528
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polyuria, Xerostomia, Hypokalemia, Renal insufficiency, Nephrolit... OMIM:617671
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Transient hy... OMIM:128230
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Crigler-Najjar Syndrome Type 1
Seizure, Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia ORPHA:79234
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea ORPHA:83461
Fish-Eye Disease
Splenomegaly, Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocytopenia, Cataract, Anemia, Splenomegaly ORPHA:290
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Oral-pharyngeal dysphagia, Seizure, Tongue fasciculations, Myoclonus, Fasciculations, Fre... OMIM:159950
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Urocanic Aciduria
Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Ataxia, Action tremor,... ORPHA:210128
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Proximal tubulopathy, Nausea, Increased serum prostaglandin E2,... OMIM:241150
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Dysphagia, Tremor OMIM:182920
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Ciliary body melanoma, Zonular cataract, Iris melanoma ORPHA:39044
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Dysphagia, Ataxia, Seizure, Myoclonus, Elevated uri... ORPHA:391417
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Elevated circulating creatine kinase con... OMIM:612953
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Dysphagia, Ataxia, Bilateral tonic-clonic seizure, Urinary incontine... OMIM:618093
Pierson Syndrome
Hypoplasia of the ciliary body, Hypoproteinemia, Posterior lenticonus, Microcoria, Hypoplasia of ... OMIM:609049
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Transient hyperphenylalaninemia, Oculomotor apraxia, Ataxia, Seizure, Choreoathetosis, Sp... OMIM:612716
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Dysphagia, Spastic gait, Low... ORPHA:251282
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Dysphagia, Elevated circulating creatine kinase concentration, Fasciculations, Tongue fas... ORPHA:276435
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Cogan Syndrome
Thrombocytosis, Leukocytosis, Uveitis, Conjunctivitis, Keratitis, Anemia ORPHA:1467
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Tremor, Ataxia OMIM:618951
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Seizure, Dysmetria, Rigidity, Generalized myoclonic seizure OMIM:618090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Cataract, Corneal opacity OMIM:613153
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Bradykinesia, Rigidity... OMIM:617836
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Seizure, Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:614736
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus OMIM:612016
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Parkinson Disease 22, Autosomal Dominant
Tremor, Constipation, Resting tremor, Bradykinesia OMIM:616710
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Hyponatremia, Seizure, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, D... ORPHA:240103
Dravet Syndrome
Photosensitive myoclonic seizure, Poor fine motor coordination, Focal hemiclonic seizure, Rigidit... ORPHA:33069
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Choreoathetosis, Dysphagia, Hyperphenylalaninemia, Hyperkinetic movements, Seizure, Limb ... OMIM:233910
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Leukopenia OMIM:614171
Myopathy With Extrapyramidal Signs
Tremor, Abnormality of extrapyramidal motor function, Chorea, Ataxia, Elevated circulating creati... OMIM:615673
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma, Posterior lenticonus ORPHA:231736
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Vomiting, Nephrocalcinosis OMIM:239199
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Elevated circulating creatine kinase concentration OMIM:618387
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Limb dysmetria, Myoclonus ORPHA:363710
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Bilateral tonic-clonic seizure, Action tremor, Bradykinesia, Parkinsonism, Babinski sign OMIM:300423
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Action tr... ORPHA:98762
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Corneal opacity, Cataract, Microcornea, Astigmati... OMIM:152950
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... OMIM:270500
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Seizure, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal circulating phytanic acid concentration, Mydriasis ORPHA:247815
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Renal salt wasting, Vomiting, Hyperkalemia OMIM:203400
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Hypermanganesemia With Dystonia 1
Tremor, Increased total iron binding capacity, Spastic paraparesis, Abnormality of extrapyramidal... OMIM:613280
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Dysphagia, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron ... ORPHA:216873
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,... OMIM:180500
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Sclerocornea OMIM:615145
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Neuronal Intranuclear Inclusion Disease
Tremor, Ataxia, Urinary incontinence, Seizure, Episodic vomiting, Rigidity OMIM:603472
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Splenomegaly, Thymus hyperplasia, Abnormal pupil morphology, Limb... ORPHA:2969
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Chorea, Dysphagia, Poor fine motor coordination, Ataxia, Seizure, Myoclonus, ... ORPHA:79263
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypertonia, Hemiballismus, Head titubation,... OMIM:618877
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia, Seizure,... OMIM:300894
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Seizure, Rigidity, Spasticity ORPHA:33445
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Seizure OMIM:614947
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Focal i... ORPHA:330050
Intellectual Developmental Disorder, X-Linked 104
Seizure, Tremor, Ataxia, Spasticity OMIM:300983
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Dysphagia, Progressive cerebellar a... OMIM:164500
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration OMIM:614025
Lopes-Maciel-Rodan Syndrome
Tremor, Dysphagia, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Seizure, Spas... OMIM:617435
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Elevated circulating C-reactive protein concentration, Anemia, Leuko... OMIM:615934
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Myo... OMIM:619028
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Nephrolithiasis OMIM:612286
Familial Dysautonomia
Heterochromia iridis, Corneal erosion, Hyponatremia, Corneal opacity, Abnormal pupil morphology ORPHA:1764
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Urocanase Deficiency
Tremor, Urocanic aciduria, Ataxia OMIM:276880
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Constipation, Bradyk... OMIM:613135
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Renal salt wasting, Diarrhea, Vomiting, Hyperkalemia OMIM:264350
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly ORPHA:93476
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Corneal opacity OMIM:619339
Nephronophthisis 11
Anisocoria, Anemia OMIM:613550
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Hemolytic anemia OMIM:615010
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Re... OMIM:613388
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Wilson Disease
Tremor, Hemolytic anemia, Hyperphosphaturia, Poor motor coordination, Dysphagia, Aminoaciduria, G... OMIM:277900
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Photosensitive myoclonic seizure, Nephropathy, Anemia, Nephrotic syndrome, Pr... ORPHA:1192
Sialidosis Type 2
Corneal opacity, Splenomegaly ORPHA:87876
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Spasticity, Seizure, Hand apraxia, Tongue thru... ORPHA:3095
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Corneal opacity ORPHA:281090
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Focal-onset seizure, Hypertonia, Ataxia, Myoclonic seizure, Bilateral tonic-... OMIM:619092
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Hyperkalemia, Periodic paralysis OMIM:609153
Intestinal Botulism
Mydriasis ORPHA:178481
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Developmental cataract, Pure r... ORPHA:124
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Vomiting, Nephrocalcinosis OMIM:602722
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Seizure, Babi... ORPHA:363654
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity OMIM:213200
Methylmalonic Aciduria, Cbla Type
Tremor, Hyperammonemia, Hyperglycinemia, Neutropenia, Seizure, Pancytopenia, Thrombocytopenia, Me... OMIM:251100
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Anteri... ORPHA:137596
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Chorea, Dysphagia, Blepharospasm, Ataxia, Bradykinesia, Parkinsonism, Ba... OMIM:606159
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Neutropenia, Seizure, 3-Methylglutaconic aciduria OMIM:617248
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Ataxia, Decreased hemoglobin conce... ORPHA:713
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Scheie Syndrome
Corneal opacity OMIM:607016
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Dysphagia, Abnormal pyramidal sign, Ataxia, Urinary incontinence, Urinary... OMIM:616795
Non-Functioning Paraganglioma
Elevated urinary dopamine, Tremor, Hematuria, Elevated urinary norepinephrine, Nausea, Elevated u... ORPHA:94080
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena... ORPHA:99879
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Clumsiness, Spastic diplegia, Simple febrile seizure, Argininuria, Vomiting, Hyperlysinuria, Decr... ORPHA:2203
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Dysphagia OMIM:313200
Dopa-Responsive Dystonia
Tremor, Generalized tonic seizure, Abnormality of extrapyramidal motor function, Slurred speech, ... ORPHA:255
Leukodystrophy, Hypomyelinating, 6
Tremor, Choreoathetosis, Ataxia, Seizure, Rigidity, Spasticity OMIM:612438
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Nephropathy, Seizure ORPHA:820
Spontaneous Periodic Hypothermia
Skin rash, Tremor, Ataxia, Seizure, Diarrhea ORPHA:29822
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Mercury Poisoning
Tremor, Acute kidney injury, Interstitial pneumonitis, Nausea, Seizure, Hypokalemia, Episodic vom... ORPHA:330021
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Vomiting, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Stat... ORPHA:363400
Revesz Syndrome
Leukocoria, Megalocornea, Aplastic anemia OMIM:268130
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Generalized tonic seizure, Bilateral tonic-clonic seizure, Status epi... OMIM:612164
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Apraxia, Gait ataxia, Seizure, Dysmetria, Spasticity OMIM:617810
Glut1 Deficiency Syndrome 2
Reticulocytosis, Tremor, Choreoathetosis, Ataxia OMIM:612126
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Bradykinesia, Seizure, Parkinsonism, Rigidity ORPHA:329284
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Peters anomaly, Corneal opacity OMIM:120200
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Fatigable weakness of swallowing muscles, Hyperphosphaturia, Abnormal pyramidal sign, Spastic tet... ORPHA:436271
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus OMIM:603776
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... OMIM:613179
Cataract, Corneal opacity, Splenomegaly ORPHA:61
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Splenomegaly, Frequent falls, Spasticity OMIM:616719
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Erratic myoclonus, Spastic ataxia, Chorea, Abnormal pyramidal sign, Torticol... ORPHA:397946
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Beta-Ketothiolase Deficiency