Gene Summary

Name:
Meis homeobox 3
Synonyms:
Mrg2

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
abnormal thymus morphology Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal spleen morphology Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
small liver Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
enlarged thymus Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
microphthalmia Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal liver morphology Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal urinary bladder morphology Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal eye morphology Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal tooth color Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased heart rate Meis3tm1b(EUCOMM)Hmgu HOM   Early adult 7.11×10-05
impaired glucose tolerance Meis3tm1b(EUCOMM)Hmgu HOM Early adult 9.47×10-08
decreased lung elastance Meis3tm1b(EUCOMM)Hmgu HOM Early adult 1.14×10-05
abnormal seminal vesicle morphology Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
cystolithiasis Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal skin morphology Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
hyperactivity Meis3tm1b(EUCOMM)Hmgu HOM Early adult 2.10×10-06
small testis Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal testis morphology Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal tooth morphology Meis3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased lung tissue damping Meis3tm1b(EUCOMM)Hmgu HOM Early adult 4.32×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 0.0% (0 of 2)
Aorta  Section images heterozygote 0.0% (0 of 2)
Bone  Section images heterozygote 0.0% (0 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 2)
Cartilage tissue  Section images heterozygote 0.0% (0 of 2)
Cecum  Section images heterozygote 0.0% (0 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Chest bone  Section images heterozygote 0.0% (0 of 2)
Colon  Section images heterozygote 0.0% (0 of 2)
Cranium  Section images heterozygote 0.0% (0 of 2)
Diaphragm  Section images heterozygote 0.0% (0 of 2)
Duodenum  Section images heterozygote 0.0% (0 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 0.0% (0 of 2)
Gall bladder  Section images heterozygote 0.0% (0 of 2)
Harderian gland  Section images heterozygote 0.0% (0 of 2)
Heart  Section images heterozygote 0.0% (0 of 2)
Hindlimb  Section images heterozygote 0.0% (0 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 0.0% (0 of 2)
Jejunum  Section images heterozygote 0.0% (0 of 2)
Kidney  Section images heterozygote 0.0% (0 of 2)
Large intestine  Section images heterozygote 0.0% (0 of 2)
Liver  Section images heterozygote 0.0% (0 of 2)
Lower urinary tract  Section images heterozygote 0.0% (0 of 2)
Lung  Section images heterozygote 0.0% (0 of 2)
Lymph node  Section images heterozygote 0.0% (0 of 2)
Mammary gland  Section images heterozygote 0.0% (0 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oral epithelium  Section images heterozygote 0.0% (0 of 2)
Ovary  Section images heterozygote 0.0% (0 of 2)
Oviduct  Section images heterozygote 0.0% (0 of 2)
Pancreas  Section images heterozygote 0.0% (0 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 0.0% (0 of 2)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 2)
Peyer's patch  Section images heterozygote 0.0% (0 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote Not available
Quadriceps  Section images heterozygote 0.0% (0 of 2)
Skeletal muscle  Section images heterozygote 0.0% (0 of 2)
Skin  Section images heterozygote 0.0% (0 of 2)
Small intestine  Section images heterozygote 0.0% (0 of 2)
Spinal cord  Section images heterozygote 0.0% (0 of 2)
Spleen  Section images heterozygote 0.0% (0 of 2)
Stomach  Section images heterozygote 0.0% (0 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 0.0% (0 of 2)
Testis  Section images heterozygote Not available
Thymus  Section images heterozygote 0.0% (0 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 0.0% (0 of 2)
Trachea  Section images heterozygote 0.0% (0 of 2)
Urinary bladder  Section images heterozygote 0.0% (0 of 2)
Uterus  Section images heterozygote 0.0% (0 of 2)
Vagina  Section images heterozygote 0.0% (0 of 2)
Vascular system  Section images heterozygote 0.0% (0 of 2)
White adipose tissue  Section images heterozygote 0.0% (0 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote Ambiguous
Chorioallantoic placenta N/A heterozygote Not available
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 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%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
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%
central nervous system ganglion Ambiguous
cranium Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
radius-ulna pre cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
upper arm Ambiguous
upper leg Ambiguous
vibrissa Ambiguous

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

228 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Forepaw

16 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Human diseases caused by Meis3 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 Meis3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... ORPHA:37553
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Apnea, Elevated circulating aspartate aminotransfe... OMIM:619048
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Strido... OMIM:608800
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Micropenis, Bradycardia, Hypertrophic cardio... OMIM:618815
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate, Respiratory insufficiency, Hepatomegaly ORPHA:2432
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... OMIM:235200
Paroxysmal Extreme Pain Disorder
Tachycardia, Mandibular pain, Bradycardia, Rhinorrhea OMIM:167400
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Microphthalmia ORPHA:3434
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardiac arrest,... OMIM:212138
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... ORPHA:69087
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Usher Syndrome Type 2
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:231178
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Bradycardia, Respiratory insufficiency, Dysph... OMIM:620265
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia ORPHA:251393
Acrootoocular Syndrome
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... ORPHA:2980
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Respiratory insufficiency, Dysphagia OMIM:616276
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Myopathy, Myofibrillar, 1
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... OMIM:601419
Microphthalmia, Syndromic 12
Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Microphthalmia, Retr... OMIM:615524
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, High palate, Narrow mouth, Microphthalmia, Retrognathia ORPHA:2528
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Micrognathia, High palate, Bradycardia, Third degree atriovent... ORPHA:40366
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Lacticaciduria, Alaninuria, Bradycardia, Decreased liver function,... OMIM:616299
Enamel-Renal Syndrome
Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ... ORPHA:1031
Usher Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Abnormal cardiovas... ORPHA:886
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Carious teeth, Stereotypical hand wringing, Dysphagia, Widely spaced t... OMIM:619229
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Congenital ... ORPHA:226313
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Bronchoconstriction, Recurren... OMIM:253000
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Wide mouth, Restrictive venti... OMIM:253010
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure, Atriovent... ORPHA:60041
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Hypoglycemia, Pneumonia, Ventricular tachycardia... OMIM:601005
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Thick lower lip vermilion, Atrioventricular block, Glucose intoleranc... OMIM:614407
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Neonatal asphyxia, Cleft palate, Hypoplasia of teeth,... ORPHA:2728
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Abnormality of dental color, Hyperphosphaturia, Horseshoe kidney OMIM:163200
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... OMIM:601349
Cln3 Disease
Aggressive behavior, Vacuolated lymphocytes, Increased circulating androgen concentration, T-wave... ORPHA:228346
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Apnea, Bradycardia, Respiratory failure OMIM:616277
Alazami-Yuan Syndrome
Thin upper lip vermilion, Hyperactivity, Dental crowding, Narrow mouth, Cryptorchidism, High pala... OMIM:617126
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord... OMIM:309548
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Cryptorchidism, Thin vermilion border, Widely spaced t... ORPHA:487825
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Abnormal oral glucose tolerance, Hyperinsulinemia, ... ORPHA:276580
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of th... ORPHA:324575
Pierpont Syndrome
Smooth philtrum, Cryptorchidism, Micropenis, Prominent median palatal raphe, Thin vermilion borde... OMIM:602342
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopa... OMIM:609286
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, H... OMIM:160900
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnorm... ORPHA:10
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Erythrodontia, Splenomegaly, Jaundice, Red urine, Cholelithiasis,... OMIM:263700
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Congenital Fibrinogen Deficiency
Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Splenic rupture, Gingival bleed... ORPHA:335
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Hyperactivity, Dental crowding, Micrognathia, Persistence of primary teeth, Aggress... OMIM:618342
Tetanus
Respiratory distress, Tachycardia, Elevated urinary norepinephrine level, Trismus, Tachypnea, Ele... ORPHA:3299
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Mandibular prognathia, Hyperactivity, Impulsivity, Micrognathia, Aggressive behavior, Cryptorchid... OMIM:604317
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia OMIM:613730
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillat... OMIM:613327
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Biliary tract abnormality, Respiratory insufficiency, Type II diabetes mellitus, Mi... ORPHA:3191
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge... OMIM:121300
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... OMIM:617397
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Type I diabetes mell... ORPHA:276575
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
D-Glyceric Aciduria
Neonatal respiratory distress, Hypoglycemia, Optic nerve hypoplasia, Tongue thrusting, Aminoacidu... OMIM:220120
Nanophthalmos 2
Microphthalmia OMIM:609549
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Splenomegaly, Jaundice, Leukocytosis, ... ORPHA:90051
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate, Micrognathia OMIM:616570
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Cholecystitis, Int... ORPHA:99827
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Impotence, Glucose i... OMIM:606069
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... ORPHA:465508
Alström Syndrome
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... ORPHA:64
Necrotizing Enterocolitis
Shock, Apnea, Peritonitis, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose ... ORPHA:391673
Warburg Micro Syndrome 1
External genital hypoplasia, Micrognathia, Cryptorchidism, Thin vermilion border, Narrow mouth, M... OMIM:600118
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, Hydronephrosis, High palate, Microphthalmia, Micropenis, Decreased ... OMIM:619185
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Macrodontia, Hyperactivity, Cryptorchidism, Poly... ORPHA:228402
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Dental crowding, Impulsivity, M... OMIM:300143
Cofs Syndrome
Hypogonadism, Microphthalmia, Everted lower lip vermilion, Micrognathia ORPHA:1466
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Insulin resistance, Recur... OMIM:214150
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, High palate, Bradycardia, Pulmonary arterial hypertension OMIM:619272
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Seckel Syndrome 2
Hypospadias, Micrognathia, Ectopic kidney, Heart murmur, Microdontia, Microphthalmia, Microglossia OMIM:606744
2Q24 Microdeletion Syndrome
Central apnea, Cleft palate, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia ORPHA:1617
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Microph... ORPHA:858
16P12.1P12.3 Triplication Syndrome
Nail-biting, Tachycardia, Hyperactivity, Decreased response to growth hormone stimulation test, B... ORPHA:485405
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Combined Oxidative Phosphorylation Deficiency 10
Pleural effusion, Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia OMIM:614702
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Bradycardia, Micrognathia OMIM:614498
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... ORPHA:137675
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Microphthalmia, Uraciluria OMIM:274270
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Malar prominence, Micrognathia, Microphthalmia ORPHA:48431
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... ORPHA:439232
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Thin vermilion border, Apnea, Bradycardia OMIM:610015
Moebius Syndrome
Decreased testicular size, Respiratory distress, Hypogonadotropic hypogonadism, Abnormality of th... OMIM:157900
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... ORPHA:2470
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Neonatal hypoglycemia, Left axis deviation, C... OMIM:261740
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... ORPHA:582
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Open mouth, Bradycardia, Neonatal hypoglycemia ORPHA:565624
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Aplasia/Hypoplasia of the iris, Type I di... ORPHA:290
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
Osteogenesis Imperfecta
Delayed eruption of teeth, Aortic regurgitation, Abnormality of dental color, Neonatal respirator... ORPHA:666
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Respiratory insufficiency OMIM:614654
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Microcytic anemia, Elevated circulating alanine aminotra... OMIM:618805
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:90673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Cholelithiasis, Hypertrophic card... OMIM:618775
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cleft palate, Cryptorchidism OMIM:164180
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Shock, Renal insufficiency, Lymphopenia, Respiratory distress, Cra... ORPHA:319213
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Trisomy 13
Anophthalmia, Median cleft lip, Displacement of the urethral meatus, Abnormality of the dentition... ORPHA:3378
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de... ORPHA:96263
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de... ORPHA:96264
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Micrognathia, Cryptorchidism, Deep philtrum, Cleft palate, Downturned c... ORPHA:404440
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Bifid scrotum, Tented upper lip vermilion, Hyposp... OMIM:619148
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg... OMIM:222300
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm... OMIM:613987
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Neonatal respiratory distress, Ketonuria, Renal hypoplasia, High palate, Microphtha... OMIM:619053
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Marburg Hemorrhagic Fever
Anorexia, Nonproductive cough, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, R... ORPHA:99826
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Fragile X Syndrome
Mandibular prognathia, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand f... OMIM:300624
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Dental crowding, Micrognathia, Respiratory insufficiency, High palate, B... OMIM:620351
Hydrolethalus
Anophthalmia, Micrognathia, Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Cleft pa... ORPHA:2189
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Bilatera... ORPHA:369891
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Cleft palate, Vesicoureteral reflux, Mi... ORPHA:85284
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Orofacial cleft, Micropenis, Wide mout... OMIM:243310
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Impulsivity, Micrognathia, Aggressive behavior, Lens coloboma, Renal hypop... OMIM:618914
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Illum Syndrome
Whistling appearance, Pierre-Robin sequence, Apnea, Bradycardia OMIM:208155
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Precocious puberty, Cryptorchidism... ORPHA:3306
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, Ambiguous genitalia, Mi... OMIM:613885
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High p... ORPHA:861
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Red-brown urine, Po... ORPHA:79277
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... ORPHA:563
Fanconi Anemia, Complementation Group S
Macrodontia, Dental malocclusion, Narrow palate, Ovarian neoplasm, Ovarian carcinoma, Microphthal... OMIM:617883
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivi... ORPHA:494344
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia, Narrow mouth ORPHA:3469
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Micrognathia, Congestive heart failure, Cryptorchidism, Cleft palate,... ORPHA:2505
Developmental And Epileptic Encephalopathy 1
Dyspnea, Microphthalmia, Micropenis, Dysphagia OMIM:308350
Hepatoerythropoietic Porphyria
Hemolytic anemia, Erythrodontia, Splenomegaly, Red urine, Red-brown urine, Erythroid hyperplasia,... ORPHA:95159
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Cough, Microdontia, Hypothyroidism, Acc... OMIM:620005
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Micrognathia OMIM:616171
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Hepatomegaly, Hyperac... ORPHA:525731
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism... ORPHA:94093
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia ORPHA:1135
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Unilateral renal agenesis, High, narrow palate, Cryptorchidism, Renal h... OMIM:618494
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Hydroureter, Micrognathia ORPHA:2547
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital ... OMIM:614613
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Apnea, Bradycardia OMIM:619814
Cri-Du-Chat Syndrome
Microretrognathia, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Self-mutilati... OMIM:123450
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia, Thrombocytopenia OMIM:619981
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Bilateral cryptorchidism, Downturned corners of mouth, Microphthalmia, S... OMIM:618652
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Bilateral cryptorchidism, Neutropenia, Eclabion, Microphthalmia, Lymp... OMIM:616395
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Jaw claudication, Syncope, Bradycardia, Tongue pain, Mandibular pain, ... ORPHA:221098
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Downturned corners of mouth, Short philtrum, Ambiguous genitalia, Microphthalmia ORPHA:93267
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Decreased circul... OMIM:241410
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Nanophthalmos
Microphthalmia ORPHA:35612
Gracile Bone Dysplasia
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ankyloglossia OMIM:602361
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Abnormality of the dentition, Conical tooth, Cryptorchidism, Hypogonadism, Microph... ORPHA:228390
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Cardiac arrest, Micrognathia, Hypoplasia of the maxilla, Congestiv... OMIM:212720
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... ORPHA:449285
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Cleft upper lip, Hypoplasia of the maxilla, Bilat... OMIM:305400
Congenital Disorder Of Glycosylation, Type It
Micrognathia, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspartate aminot... OMIM:614921
Meckel Syndrome, Type 5
Cleft upper lip, Renal cyst, Cleft palate, Bile duct proliferation, Microphthalmia OMIM:611561
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Supernumerary nipple, Aggressive behavior, Cleft lip, Deep philtrum, Cle... OMIM:620098
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... OMIM:615745
Monosomy 18P
Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Hypertension, Short philt... ORPHA:1598
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate, Cleft upper lip OMIM:600251
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, Ja... OMIM:612714
Seckel Syndrome 1
Pancytopenia, Hyperactivity, Dental crowding, Selective tooth agenesis, Hypospadias, Micrognathia... OMIM:210600
Warburg Micro Syndrome 4
Small scrotum, Narrow mouth, Cryptorchidism, Long philtrum, Microphthalmia, Micropenis, Decreased... OMIM:615663
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Microphthalmia, Lenz Type
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Hypospadias, Abnormality of t... ORPHA:568
Bohring-Opitz Syndrome
Apnea, Micrognathia, Cleft lip, Cleft palate, Urinary retention, Bradycardia, Cholelithiasis, Ann... ORPHA:97297
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... ORPHA:564
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Restlessness, Micrognathia, Hypop... OMIM:300534
3Q29 Microdeletion Syndrome
Dental crowding, Hypospadias, Abnormality of the dentition, Aggressive behavior, Orofacial cleft,... ORPHA:65286
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hyperactivity, Hypospadias, Micrognathia, Cryptorchidism, Pineal cyst, Shaw... OMIM:617516
Temtamy Syndrome
Aortic regurgitation, Dental crowding, Micrognathia, Hypoplasia of teeth, Long philtrum, Micropht... OMIM:218340
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Aggressive behavior, Deep philtrum, Thick lower ... OMIM:152950
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... OMIM:610125
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Hypothyroid... ORPHA:254346
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Meckel Syndrome 14
Microretrognathia, Tricuspid regurgitation, Micrognathia, Pneumothorax, Cardiorespiratory arrest,... OMIM:619879
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Hallermann-Streiff Syndrome
Natal tooth, Hyperactivity, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernum... OMIM:234100
Marden-Walker Syndrome
Hypospadias, Micrognathia, High, narrow palate, Cryptorchidism, Renal hypoplasia, Cleft palate, H... OMIM:248700
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia o... OMIM:610829
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... ORPHA:534
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microdontia, Microphthalmia, Widely spaced teeth, Micrognathia OMIM:619694
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Apnea, Retinal hemorrhage, Stridor, Hypertension, Hig... OMIM:614653
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... ORPHA:2108
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Warburg Micro Syndrome 3
Small scrotum, Micrognathia, Hypoplastic labia minora, Narrow palate, Downturned corners of mouth... OMIM:614222
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Abnormal oral mucosa morphology, Renal cyst, Ureterocel... ORPHA:79404
Microphthalmia, Syndromic 13
Microphthalmia, Widely-spaced incisors OMIM:300915
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Dysphagia, Hypopnea, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Res... OMIM:617248
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Hypospadias, Aggressi... ORPHA:464738
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate,... OMIM:618874
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Retrognathia OMIM:614583
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Small scrotum, Micrognathia OMIM:610756
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Supernumerary nipple, Cleft upper lip, Cryp... OMIM:612530
Mosaic Trisomy 9
Hypoplasia of penis, Micrognathia, Asplenia, Cryptorchidism, Cleft palate, Horseshoe kidney, Hydr... ORPHA:99776
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyop... OMIM:300952
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, External genital hypop... ORPHA:2250
Nanophthalmos 4
Microphthalmia OMIM:615972
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... ORPHA:2969
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Cleft palate, Cleft upper lip OMIM:614402
Temtamy Syndrome
Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology, Micrognathia ORPHA:1777
Micro Syndrome
Hypoplasia of penis, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia,... ORPHA:2510
Refsum Disease
Renal insufficiency, Heart block, Splenomegaly, Respiratory insufficiency, Cardiomyopathy, Microp... ORPHA:773
Atelis Syndrome 2
Micrognathia, Diastema, Thrombocytopenia, Dyspnea, Thick lower lip vermilion, Elevated circulatin... OMIM:620185
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Rena... OMIM:601186
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia, Smooth philtrum OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia, Abnormal left ventricular function, Cardiomyopathy OMIM:613155
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Hypospadias, Recurrent pneumonia, Cleft palate, Furrowed tongue, Pulm... OMIM:616449
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Hyperactivity, Thick lower lip vermilion, Wide mouth, Attention deficit... ORPHA:1942
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Exaggerated cupid's bow, Micrognathia, Abnormality of the dentition, Cryptor... ORPHA:284160
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Small scrotum, Cryptorchidism, Sh... OMIM:300486
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Hartsfield Syndrome
Microphthalmia, Non-midline cleft lip, Respiratory insufficiency, Cleft palate ORPHA:2117
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Hyperinsulinemia, Renal Fa... ORPHA:263455
Meckel Syndrome, Type 2
Microphthalmia, Renal cyst, Bile duct proliferation, Cleft palate OMIM:603194
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Pulmonary arterial hypertension, Long philtrum OMIM:300887
Bone Marrow Failure Syndrome 3
Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neu... OMIM:617052
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, High, narrow palate, Deep philtrum... ORPHA:435638
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Cryptorchidism, Hypoplastic facia... OMIM:616300
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Deep philtrum, Panhypopituitarism, ... ORPHA:2162
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary... OMIM:136760
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Dilated cardiomyopathy, Bradycardia, Hypoketotic hypoglycemia OMIM:610768
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Conical incisor, Oligodontia, Vesicoureteral reflux, Pleural lymphangiectasia, Hy... OMIM:235510
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Orofacial clef... ORPHA:3301
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Cleft upper lip, Deep philtrum, Cleft palate, High palat... OMIM:206920
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Thrombocytopeni... OMIM:603467
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, High, nar... ORPHA:193
Nance-Horan Syndrome
Mandibular prognathia, Microphthalmia, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Dubowitz Syndrome
Delayed eruption of teeth, Hyperactivity, Hypospadias, Aplastic anemia, Micrognathia, Carious tee... OMIM:223370
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Cryptorchidism, Supernumerary too... OMIM:268400
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia o... OMIM:257850
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism... OMIM:603457
Yellow Fever
Shock, Acute pancreatitis, Anuria, Renal insufficiency, Elevated circulating aspartate aminotrans... ORPHA:99829
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ... OMIM:618165
Meckel Syndrome, Type 4
Microphthalmia, Renal cyst, Bile duct proliferation, Cleft palate OMIM:611134
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegal... OMIM:252920
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, High palate, Microphthalmia, Abnormality of the hypothalamus-pituit... ORPHA:139471
Seckel Syndrome 10
Microretrognathia, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated ci... OMIM:617253
Ohdo Syndrome, X-Linked
Small scrotum, Micrognathia, Shawl scrotum, Cryptorchidism, Thin vermilion border, High palate, W... OMIM:300895
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... OMIM:147250
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... ORPHA:2712
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Orofacial cleft ORPHA:324416
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Hydroureter, Decreased res... OMIM:146510
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention ... OMIM:617914
Cat-Eye Syndrome
Microphthalmia, Hydronephrosis ORPHA:195
Fryns Syndrome
Multicystic kidney dysplasia, Tented upper lip vermilion, Median cleft lip, Hypospadias, Microgna... ORPHA:2059
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Chromosome 8Q21.11 Deletion Syndrome
Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth,... OMIM:614230
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal ... OMIM:252930
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Methylmalonic aciduria, Eleva... OMIM:614105
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90037
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Hepatomegaly, Abnormal test... ORPHA:1775
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitatio... OMIM:261990
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Oral ulcer, Gingivitis, Hypoglycemic seizures, Nephrocalcinosis, Periodontitis, Hepatic steatosis... ORPHA:79259
Cockayne Syndrome B
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primar... OMIM:133540
Steinert Myotonic Dystrophy
Tented upper lip vermilion, Prolonged QRS complex, Decreased response to growth hormone stimulati... ORPHA:273
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, fem... OMIM:249000
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Fanconi Anemia, Complementation Group R
Agenesis of permanent teeth, Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia OMIM:617244
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... ORPHA:209905
Microphthalmia, Isolated 6