Gene Summary

Name:
metal response element binding transcription factor 1
Synonyms:
metalloregulatory transcription factor,  metal response element-binding transcription factor 1,  Thyls,  MTF-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
prenatal lethality prior to heart atrial septation Mtf1tm1b(KOMP)Wtsi HOM   E15.5 0.00
decreased circulating glucose level Mtf1tm1b(KOMP)Wtsi HET Early adult 5.85×10-05
abnormal retina morphology Mtf1tm1b(KOMP)Wtsi HET Early adult 2.79×10-05
anophthalmia Mtf1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal embryo size Mtf1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal forebrain morphology Mtf1tm1b(KOMP)Wtsi HOM E12.5 0.00
preweaning lethality, complete penetrance Mtf1tm1b(KOMP)Wtsi HOM   Early adult 0.00
microphthalmia Mtf1tm1b(KOMP)Wtsi HOM E12.5 0.00
increased circulating aspartate transaminase level Mtf1tm1b(KOMP)Wtsi HET Early adult 2.28×10-05
abnormal craniofacial morphology Mtf1tm1b(KOMP)Wtsi HOM E12.5 0.00
increased circulating potassium level Mtf1tm1b(KOMP)Wtsi HET   Early adult 9.87×10-05
embryonic growth retardation Mtf1tm1b(KOMP)Wtsi HOM E12.5 0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

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

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Section

37 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

12 Images

Sleep Wake

Wake state (bmp file)

12 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

Images Ophthalmoscopy

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Forepaw

11 Images

Gross Morphology Embryo E12.5

Images

6 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Mtf1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mtf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo... OMIM:231100
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Syndromic 12
Neonatal death, Anophthalmia, Microphthalmia OMIM:615524
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia OMIM:609016
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia OMIM:613885
Nanophthalmos
Microphthalmia ORPHA:35612
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
Nanophthalmos 4
Microphthalmia OMIM:615972
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration ORPHA:446
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Growth delay, Microphthalmia ORPHA:2528
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Carcinoid Syndrome
Hepatic necrosis, Elevated circulating hepatic transaminase concentration ORPHA:100093
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616171
Leigh Syndrome, Nuclear
Hepatocellular necrosis OMIM:256000
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:195
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Papilledema, Hyperkalemia OMIM:620366
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis OMIM:201475
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Biemond Syndrome Type 2
Short stature, Delayed puberty, Microphthalmia ORPHA:141333
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Cofs Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1466
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Trisomy 13
Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:3378
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatomegaly, Jaundice OMIM:231680
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Mmep Syndrome
Microphthalmia ORPHA:3434
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia ORPHA:1528
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia ORPHA:681
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail... OMIM:256810
Hydrolethalus
Anencephaly, Anophthalmia, Microphthalmia ORPHA:2189
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Solitary Median Maxillary Central Incisor
Short stature, Anophthalmia, Microphthalmia OMIM:147250
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic necrosis, Hepatic steatosis, Elevated circulating hepatic transami... ORPHA:71212
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level OMIM:218030
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Anophthalmia, Microphthalmia ORPHA:77298
Hartsfield Syndrome
Intrauterine growth retardation, Encephalocele, Microphthalmia ORPHA:2117
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Growth delay, Anophthalmia, Microphthalmia OMIM:206920
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:48431
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia ORPHA:858
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic peripo... ORPHA:26791
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Bresek Syndrome
Intrauterine growth retardation, Neonatal death, Microphthalmia, Growth delay, Optic nerve hypopl... ORPHA:85284
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Microphthalmia, Syndromic 9
Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Ne... OMIM:601186
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Birk-Landau-Perez Syndrome
Optic atrophy, Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Growth delay, Microphthalmia OMIM:610756
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Hepatic necrosis OMIM:127550
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia OMIM:300863
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Congenital Rubella Syndrome
Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:603194
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia OMIM:613730
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin level ORPHA:90791
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Anophthalmia, Microphthalmia ORPHA:3412
Familial Glucocorticoid Deficiency
Hyponatremia, Hypoglycemic seizures, Ketotic hypoglycemia, Hyperkalemia ORPHA:361
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Pierpont Syndrome
Microphthalmia ORPHA:487825
Trisomy 1Q
Anophthalmia ORPHA:261344
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Transient hypophosphatemia, Hyp... ORPHA:79102
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia OMIM:300887
Mirage Syndrome
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:617053
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Liddle Syndrome
Hypokalemia ORPHA:526
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, Microphthalmia OMIM:615877
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Seckel Syndrome 2
Short stature, Growth delay, Microphthalmia OMIM:606744
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:611134
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia ORPHA:163966
Acute Adrenal Insufficiency
Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating ren... ORPHA:95409
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Hypoglycemia ORPHA:90790
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Glycosuria ORPHA:97362
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Microphthalmia ORPHA:93267
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Mild short stature, Microphthalmia OMIM:614833
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618838
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... ORPHA:90062
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Microphthalmia, Syndromic 3
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microphthalmia, Short stature, O... OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Temtamy Syndrome
Microphthalmia ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia OMIM:136760
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia, Umbilical hernia ORPHA:1101
Spondylo-Ocular Syndrome
Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp... ORPHA:85194
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia ORPHA:90321
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Reduced circulating cortisol-binding globulin concentration OMIM:611489
Osteoporosis-Pseudoglioma Syndrome
Short stature, Microphthalmia ORPHA:2788
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida occulta, Microphthalmia OMIM:169550
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Encephalocele, Microphthalmia ORPHA:228390
Cystinosis
Hypokalemia, Type I diabetes mellitus, Hypophosphatemia, Retinopathy ORPHA:213
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Addison Disease
Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia,... ORPHA:85138
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Cerebrooculonasal Syndrome
Postnatal growth retardation, Encephalocele, Anophthalmia, Optic nerve hypoplasia OMIM:605627
Oculopalatocerebral Syndrome
Short stature, Microphthalmia OMIM:257910
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Fibular Hemimelia
Spina bifida, Anophthalmia ORPHA:93323
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis OMIM:618278
Subaortic Stenosis-Short Stature Syndrome
Short stature, Microphthalmia ORPHA:3191
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Fetal Alcohol Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1915
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia ORPHA:494344
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Abnormal circulating cholesterol concentration, Hyponatremia, Neonatal hypoglycemia... ORPHA:168558
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Holoprosencephaly
Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Microphthalmia ORPHA:2162
Trichothiodystrophy 3, Photosensitive
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616395
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level ORPHA:320
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Abnormal circulating cholesterol concentration, Hyponatremia, Neonatal hypoglycemia... ORPHA:289548
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac... OMIM:227810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Glycosuria OMIM:134600
Bartter Syndrome, Type 3
Hyperchloriduria, Abnormal choroid morphology, Hypokalemia, Abnormal retinal vascular morphology,... OMIM:607364
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus OMIM:616026
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia ORPHA:2728
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Fanconi Anemia, Complementation Group I
Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Joubert Syndrome 37
Short stature, Microphthalmia OMIM:619185
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
14Q22Q23 Microdeletion Syndrome
Short stature, Anophthalmia, Optic nerve aplasia ORPHA:264200
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Anophthalmia, Microphthalmia ORPHA:2538
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Monosomy 18P
Short stature, Microphthalmia ORPHA:1598
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Anophthalmia OMIM:615636
Frontofacionasal Dysplasia
Short stature, Encephalocele, Microphthalmia ORPHA:1791
Garg-Mishra Progeroid Syndrome
Short stature, Postnatal growth retardation, Microphthalmia OMIM:620601
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Encephalocele, Anophthalmia, Microphthalmia, Anencephaly ORPHA:564
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Microphthalmia/Coloboma 12
Optic nerve aplasia, Growth delay, Microphthalmia OMIM:120200
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Baraitser-Winter Syndrome 1
Short stature, Postnatal growth retardation, Microphthalmia OMIM:243310
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia OMIM:617883
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia ORPHA:370959
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Postnatal growth retardation, Severe intrauterine growth retardation OMIM:241410
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Gracile Bone Dysplasia
Short stature, Aniridia, Microphthalmia OMIM:602361
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Anophthalmia, Microphthalmia ORPHA:2526
Microcephaly-Micromelia Syndrome
Neonatal death, Intrauterine growth retardation, Microphthalmia OMIM:251230
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Micro Syndrome
Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia ORPHA:2510
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Marden-Walker Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:248700
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Cerebrooculofacioskeletal Syndrome 4
Short stature, Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Warburg Micro Syndrome 4
Short stature, Severe postnatal growth retardation, Microphthalmia OMIM:615663
Cholera
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Microphthalmia OMIM:617306
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Charge Syndrome
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Anophthalmia, De... ORPHA:138
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Temtamy Syndrome
Microphthalmia OMIM:218340
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Microphthalmia, Umbilical hernia ORPHA:2505
Joubert Syndrome 14
Meningocele, Growth delay, Encephalocele, Microphthalmia OMIM:614424
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Growth delay, Anophthalmia, Microphthalmia ORPHA:2556
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Holoprosencephaly 9
Anophthalmia, Microphthalmia, Short stature, Occipital meningocele, Optic nerve hypoplasia OMIM:610829
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Moebius Syndrome
Microphthalmia OMIM:157900
Microphthalmia, Syndromic 2
Umbilical hernia, Anophthalmia, Phthisis bulbi, Microphthalmia, Short stature OMIM:300166
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Oculo-Palato-Cerebral Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:2714
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia OMIM:616920
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia ORPHA:544482
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Glycosuria, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration ORPHA:411629
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia ORPHA:1806
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hyperkalemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:275761
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Fraser Syndrome 1
Myelomeningocele, Bilateral microphthalmos, Encephalocele, Anophthalmia OMIM:219000
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Glucose intolerance, Impaired glucose tolerance OMIM:219090
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Frontorhiny
Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia ORPHA:391474
Focal Dermal Hypoplasia
Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Short stature, Spina ... OMIM:305600
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Frontonasal Dysplasia 2
Intrauterine growth retardation, Encephalocele, Microphthalmia OMIM:613451
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Fanconi Anemia, Complementation Group F
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:603467
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Severe postnatal growth retardation, Microphthalmia ORPHA:35173
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Microphthalmia OMIM:618571
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia OMIM:612530
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Galloway-Mowat Syndrome 3
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:617729
Refsum Disease
Microphthalmia ORPHA:773
Microphthalmia With Limb Anomalies
Short stature, True anophthalmia, Microphthalmia ORPHA:1106
Cohen Syndrome
Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia ORPHA:193
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph... ORPHA:3337
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Anencephaly, Encephalocele, Microphthalmia OMIM:619148
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Fraser Syndrome
Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia ORPHA:2052
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Pelvis-Shoulder Dysplasia
Hydranencephaly, Bilateral microphthalmos, Mesomelic/rhizomelic limb shortening, Neonatal short-t... ORPHA:2839
Juvenile Nephropathic Cystinosis
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Xeroderma Pigmentosum, Complementation Group B
Short stature, Microphthalmia OMIM:610651
1Q21.1 Microdeletion Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:250989
Adams-Oliver Syndrome
Encephalocele, Microphthalmia ORPHA:974
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance