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Gene: Grm3 MGI:1351340

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Gene Summary

Name:
glutamate receptor, metabotropic 3
Synonyms:
mGluR3,  0710001G23Rik,  Gprc1c,  mGlu3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal bone structure Grm3tm1b(KOMP)Wtsi HOM   Early adult 3.48×10-05
increased circulating triglyceride level Grm3tm1b(KOMP)Wtsi HOM   Early adult 1.22×10-05
microphthalmia Grm3tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased lean body mass Grm3tm1b(KOMP)Wtsi HOM Early adult 2.23×10-05
increased circulating cholesterol level Grm3tm1b(KOMP)Wtsi HOM   Early adult 3.76×10-05
impaired glucose tolerance Grm3tm1b(KOMP)Wtsi HOM Early adult 5.25×10-05
increased total body fat amount Grm3tm1b(KOMP)Wtsi HOM Early adult 3.36×10-06
decreased bone mineral content Grm3tm1b(KOMP)Wtsi HOM Early adult 2.77×10-06
increased circulating HDL cholesterol level Grm3tm1b(KOMP)Wtsi HOM   Early adult 5.22×10-05

Download data as:  TSV  XLS

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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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus 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)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney 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)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
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 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote Not available
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote Not available
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote Not available
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

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

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

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%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
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%
oral cavity 0.0%
skin 0.0%
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 Wholemount

7 Images

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Echo

M-Mode Images

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Grm3 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 Grm3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Depression, Collectionism OMIM:164230
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissue,... OMIM:612526
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Insulin-... OMIM:608600
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia OMIM:619175
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Abnormally large globe, Increase... ORPHA:2457
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Lip... OMIM:613877
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... OMIM:619868
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Hyperinsulinemia, Bone cyst, Adipose tissue loss, Lipodyst... ORPHA:528
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus... ORPHA:435660
Morgagni-Stewart-Morel Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Osteoporosis, Diabetes mellitus, Hyperostosis front... ORPHA:77296
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Joint contractur... OMIM:615381
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Lipodystro... ORPHA:79085
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia OMIM:614480
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Lipodystrophy, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Temple Syndrome
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Hypertrigly... OMIM:616222
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increa... OMIM:248370
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, ... ORPHA:435651
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Gombo Syndrome
Microphthalmia OMIM:233270
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin... OMIM:615980
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemi... ORPHA:79237
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Failure to thrive, Hypophosphatemia,... ORPHA:2088
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hyperuric... ORPHA:79083
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Hype... ORPHA:2348
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microphthalmia ORPHA:2432
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Laron Syndrome
Truncal obesity, Hypercholesterolemia, Hypoglycemia ORPHA:633
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Increased adipose tissue around the neck, Increased facial adipose tissue, In... ORPHA:280365
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Failure to thrive, Hypoglycemia, Hyperlipidemia, Osteoporosis ORPHA:369
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hypercholest... ORPHA:412
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Small for g... ORPHA:96184
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia, Osteoporosis, Reduced bone mineral density, Diabet... OMIM:277700
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Cerebrooculofacioskeletal Syndrome 3
Arthrogryposis multiplex congenita, Microphthalmia OMIM:616570
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Failure to thrive, Hyperinsulinemia, Elevated circulating creatin... OMIM:613327
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Nanophthalmos
Microphthalmia ORPHA:35612
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:66628
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Elevated circulating creatine kinase concentration, Increased body weight... ORPHA:79240
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:179494
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Mi... ORPHA:3191
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia ORPHA:2089
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98855
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Smith-Magenis Syndrome
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Hypertriglyceridemia OMIM:613027
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia ORPHA:209902
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Finger joint contracture, Microphthalmia, Osteoporosis, Flexion contracture of toe ORPHA:48431
Nanophthalmos 4
Microphthalmia OMIM:615972
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Small for gestational age, Failure to thrive, Microphthalmia ORPHA:1617
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... ORPHA:247585
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia OMIM:615297
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98863
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased bo... ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Cystic angiomatosis of b... OMIM:608594
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Decreased cervical s... ORPHA:98853
Congenital Varicella Syndrome
Atypical scarring of skin, Microphthalmia ORPHA:291
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Microphthalmia OMIM:278780
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... OMIM:615947
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Seckel Syndrome 10
Insulin resistance, Glycosuria, Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1... OMIM:617253
Craniotelencephalic Dysplasia
Craniosynostosis, Optic nerve hypoplasia, Microphthalmia OMIM:218670
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hyperlipidemia, Decreased bod... ORPHA:444490
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissu... OMIM:269700
Craniotelencephalic Dysplasia
Craniosynostosis, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Microphthalmia OMIM:274270
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Cholesteryl Ester Storage Disease
Failure to thrive, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholestero... OMIM:278000
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:613155
Warburg Micro Syndrome 1
Osteoporosis, Failure to thrive, Microphthalmia OMIM:600118
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia, Hypoplasia of the iris ORPHA:2479
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Anophthalmia, Microphthalmia OMIM:615524
Xp21 Deletion Syndrome
Osteoporosis, Elevated circulating creatine kinase concentration, Reduced bone mineral density, H... ORPHA:261476
Cofs Syndrome
Arthrogryposis multiplex congenita, Camptodactyly of finger, Microphthalmia ORPHA:1466
Pierpont Syndrome
Abnormal subcutaneous fat tissue distribution, Small for gestational age, Microphthalmia ORPHA:487825
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia OMIM:617575
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Reduced bone mineral density, Hyperlipidemia ORPHA:1414
Mmep Syndrome
Microphthalmia ORPHA:3434
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... OMIM:606721
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lipodystrophy, Hypertriglyceridemia, Flexion contracture, Panniculitis OMIM:617591
Neuhauser Syndrome
Osteopenia, Hypercholesterolemia, Hypoplasia of the iris OMIM:249310
H Syndrome
Hernia, Lipodystrophy, Hypertriglyceridemia, Camptodactyly, Diabetes mellitus, Osteolysis ORPHA:168569
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Decreased skull ossification, Omphalocele, Microphthalmia ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia, Hypoglycemia, Knee flexion contracture OMIM:620454
Prader-Willi Syndrome
Osteopenia, Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infa... OMIM:176270
Biemond Syndrome Type 2
Obesity, Microphthalmia ORPHA:141333
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microphthalmia OMIM:618805
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Gaisböck Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,... ORPHA:90041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration OMIM:615181
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... ORPHA:90674
Gracile Bone Dysplasia
Failure to thrive, Aniridia, Hypocalcemia, Decreased skull ossification, Microphthalmia OMIM:602361
Pierpont Syndrome
Microphthalmia, Failure to thrive, Decreased body weight OMIM:602342
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Lissencephaly 8
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:617255
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Osteopenia, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia,... ORPHA:536532
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Lysinuric Protein Intolerance
Osteopenia, Failure to thrive, Increased circulating ferritin concentration, Decreased HDL choles... ORPHA:470
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Osteopetrosis, Failure to thrive OMIM:615085
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Osteopenia, Microphthalmia ORPHA:2788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Acroosteolysis of distal phalanges... ORPHA:90154
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased circulating ferritin con... OMIM:603553
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Obesity, Hypertriglyceridem... OMIM:203800
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercho... ORPHA:79259
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Hartsfield Syndrome
Craniosynostosis, Microphthalmia ORPHA:2117
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia ORPHA:31825
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Aromatase Deficiency
Insulin resistance, Delayed epiphyseal ossification, Osteopenia, Obesity, Type II diabetes mellit... ORPHA:91
Atypical Werner Syndrome
Lipoatrophy, Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperins... ORPHA:79474
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Inguinal hernia, Microphthalmia ORPHA:1135
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia, Microphthalmia ORPHA:1438
Frontonasal Dysplasia 1
Joint contracture of the hand, Frontal cutaneous lipoma, Pericallosal lipoma, Microphthalmia, Cam... OMIM:136760
Developmental Delay With Variable Neurologic And Brain Abnormalities
Camptodactyly, Knee flexion contracture, Microphthalmia OMIM:619694
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Rickets, Failu... OMIM:309000
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia, Small for gestational age OMIM:307030
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Glucose intolerance, Hyperlipidemia, Do... ORPHA:189427
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hernia, Microphthalmia OMIM:602501
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Micr... OMIM:127000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Congenital Toxoplasmosis
Failure to thrive in infancy, Microphthalmia ORPHA:858
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:613153
Congenital Rubella Syndrome
Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification, Microp... ORPHA:163649
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
X-Linked Dominant Chondrodysplasia Punctata
Epiphyseal stippling, Anterior rib punctate calcifications, Scarring alopecia of scalp, Neonatal ... ORPHA:35173
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Microphthalmia OMIM:300887
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Spondylo-Ocular Syndrome
Osteoporosis, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Flexion contracture, Abnormally large globe, Elevated circulating creatine kinase... OMIM:615249
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia OMIM:610717
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Elevated 8(9)-cholestenol, Stippled calcification in carpal bones, Epiphyseal ... OMIM:302960
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Agitation ORPHA:100924
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Osteolytic defects... ORPHA:90153
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Generalized lipodystrophy, Glucose intolerance, Osteolytic defects of the phalanges o... OMIM:619127
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Flexion contracture, Optic nerve hypoplasia, Decreased body weight OMIM:614833
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Microphthalmia, Hypocalcemic seizures OMIM:241410
Lysosomal Acid Lipase Deficiency
Failure to thrive, Xanthelasma, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypert... ORPHA:275761
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Obesity, Hypertriglyceridemia, Craniosynostosis, Hypercalcemia ORPHA:369837
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Obesity, Microphthalmia OMIM:601794
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Microphthalmia ORPHA:363741
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Camptodactyly of finger, Elbow flexion contracture, Loss of facial adipose tis... OMIM:256040
Temtamy Syndrome
Microphthalmia ORPHA:1777
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Decreased skull ossification, Microphthalmia OMIM:300863
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia ORPHA:2547
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hypoglycemia ORPHA:156
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Camptodactyly of finger, Microphthalmia OMIM:610756
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Methylmalonic acidemia OMIM:614105
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Failure to thrive, Osteomalacia, Hyperaldosteronism, Abnormal dental e... ORPHA:534
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Neonatal hyp... OMIM:619418
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Inguinal hernia, Joint contracture of the 5th finger, Joint contracture of the ... OMIM:618914
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Fasting hypoglycemia, Osteoporosis OMIM:232200
Bardet-Biedl Syndrome 20
Obesity, Hypercholesterolemia OMIM:619471
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Trisomy 13
Hernia, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Joubert Syndrome 22
Microphthalmia OMIM:615665
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration ORPHA:370959
Seckel Syndrome 2
Small for gestational age, Microphthalmia OMIM:606744
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hy... ORPHA:77293
Sandestig-Stefanova Syndrome
Camptodactyly, Small for gestational age, Microphthalmia OMIM:618804
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Camptodactyly of finger, Failure to thrive in infancy, Elbow flexion co... OMIM:610758
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Microphthalmia OMIM:167730
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia ORPHA:98908
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
19P13.12 Microdeletion Syndrome
Craniosynostosis, Obesity, Hyperlipidemia, Arthrogryposis multiplex congenita ORPHA:254346
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia, Failure to thrive OMIM:300972
3Q29 Microduplication Syndrome
Aniridia, Obesity, Camptodactyly of toe, Microphthalmia, Craniosynostosis ORPHA:251038
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Joubert Syndrome 37
Obesity, Microphthalmia OMIM:619185
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Corneal scarring, Microphthalmia OMIM:212550
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Microphthalmia OMIM:612379
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Familial Exudative Vitreoretinopathy
Reduced bone mineral density, Microphthalmia ORPHA:891
Fanconi Anemia, Complementation Group R
Radial dysplasia, Microphthalmia OMIM:617244
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Microphthalmia ORPHA:228390
Ritscher-Schinzel Syndrome 3
Epiphyseal stippling, Poorly ossified vertebrae, Microphthalmia OMIM:619135
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine... OMIM:255120
Moebius Syndrome
Camptodactyly, Arthrogryposis multiplex congenita, Microphthalmia OMIM:157900
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Curry-Jones Syndrome
Craniosynostosis, Microphthalmia ORPHA:1553
Nasopalpebral Lipoma-Coloboma Syndrome
Multiple lipomas, Lipomas of eyelids, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Failure to thrive, Microphthalmia OMIM:301108
Stevenson-Carey Syndrome
Camptodactyly, Joint contracture of the hand, Microphthalmia OMIM:611961
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Anophthalmia, Microphthalmia ORPHA:2470
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Premature Aging Syndrome, Penttinen Type
Keloids, Failure to thrive, Flexion contracture of finger, Joint contracture, Microphthalmia, Ost... OMIM:601812
Baraitser-Winter Syndrome 1
Failure to thrive, Microphthalmia OMIM:243310
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Fanconi Anemia, Complementation Group S
Failure to thrive, Microphthalmia OMIM:617883
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Hypoplasia of the iris, Multiple central nervous system lipomas, Microphthal... OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Microphthalmia, Buphthalmos, Elevated circulating creatine kinase concentration OMIM:616538
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Focal Dermal Hypoplasia
Coarse metaphyseal trabecularization, Hypoplasia of the iris, Camptodactyly of finger, Umbilical ... ORPHA:2092
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Microphthalmia With Limb Anomalies
Camptodactyly of 2nd-5th fingers, Failure to thrive, Anophthalmia, Microphthalmia OMIM:206920
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Inguinal hernia, Microphthalmia, Camptodac... OMIM:248700
Glycogen Storage Disease Ib
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Osteoporosis OMIM:232220
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Camptodactyly, Arthrogryposis-like hand anomaly, Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Monosomy 18P
Microphthalmia ORPHA:1598
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Increased subcutaneous truncal adipose tissue, Optic disc hypoplasia, Failure to thri... ORPHA:3455
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:157
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Anophthalmia, Microphthalmia ORPHA:899
Temtamy Syndrome
Microphthalmia OMIM:218340
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Otodental Syndrome
Abnormal dental enamel morphology, Lens coloboma, Microphthalmia ORPHA:2791
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Failure to thrive, Hiatus hernia, Microphthalmia, Camptodactyly OMIM:617729
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia, Decreased body weight OMIM:609053
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Abnormally ossified vertebrae, Microphthalmia ORPHA:3301
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Microphthalmia OMIM:616395
Alagille Syndrome 1
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia OMIM:118450
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Small for gestational age, Hy... OMIM:619573
Warburg Micro Syndrome 4
Flexion contracture, Microphthalmia OMIM:615663
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Meckel Syndrome, Type 2
Omphalocele, Microphthalmia OMIM:603194
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Buphthalmos, Congenital contracture, Elevated circulating creatine kinase concent... OMIM:613150
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Hypoplasia of the iris, Hiatus hernia, Microphtha... OMIM:251300
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Absence of subcutaneous fat, Small for gestational age, Microphthalmia OMIM:601675
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:228308
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Microphthalmia ORPHA:1915
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Momo Syndrome
Obesity, Abnormal bone ossification, Large for gestational age, Bilateral microphthalmos ORPHA:2563
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Warburg Micro Syndrome 3
Flexion contracture, Microphthalmia OMIM:614222
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Microphthalmia OMIM:616920
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Inguinal hernia, Microphthalmia ORPHA:2505
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Microphthalmia ORPHA:435638
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Bardet-Biedl Syndrome
Insulin resistance, Decreased HDL cholesterol concentration, Obesity, Impaired fasting glucose, T... ORPHA:110
Kapur-Toriello Syndrome
Failure to thrive, Microphthalmia ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:253800
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Diabetes mellitus ORPHA:273
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Bilateral microphthalmos, Hypocalcemic tetany, Decreased skull ossification, C... ORPHA:93325
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Microphthalmia OMIM:612530
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Rodrigues Blindness
Microphthalmia OMIM:268320
Oculofaciocardiodental Syndrome
Flexion contracture of the 4th toe, Flexion contracture of the 2nd toe, Microphthalmia ORPHA:2712
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Joint contracture of the 5th finger, Microphthalmia OMIM:620098
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Omphalocele, Microphthalmia OMIM:248450
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hypertriglyc... OMIM:264090