Gene Summary

Name:
nucleoredoxin
Synonyms:
l11Jus13

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
increased circulating alkaline phosphatase level Nxntm1b(EUCOMM)Wtsi HET Early adult 2.50×10-05
abnormal head shape Nxnem1(IMPC)Bay HOM E18.5 0.00
unresponsive to tactile stimuli Nxnem1(IMPC)Bay HET E18.5 0.00
abnormal head size Nxntm1b(EUCOMM)Wtsi HOM E18.5 0.00
unresponsive to tactile stimuli Nxnem1(IMPC)Bay HOM E18.5 0.00
facial cleft Nxntm1b(EUCOMM)Wtsi HOM E18.5 0.00
abnormal facial morphology Nxnem1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Nxntm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal embryo size Nxntm1b(EUCOMM)Wtsi HOM E18.5 0.00
decreased body length Nxnem1(IMPC)Mbp HET   Early adult 3.02×10-07
abnormal retina blood vessel morphology Nxnem1(IMPC)Bay HET Early adult 5.21×10-05
abnormal facial morphology Nxnem1(IMPC)Bay HOM E18.5 0.00
increased grip strength Nxntm1a(EUCOMM)Wtsi HET Early adult 3.76×10-05
small adrenal glands Nxntm1b(EUCOMM)Wtsi HET Early adult 0.00
abnormal freezing behavior Nxntm1b(EUCOMM)Wtsi HET Early adult 1.28×10-05
decreased locomotor activity Nxntm1b(EUCOMM)Wtsi HET Early adult 3.78×10-11
abnormal head shape Nxntm1b(EUCOMM)Wtsi HOM E18.5 0.00
abnormal embryo size Nxntm1b(EUCOMM)Wtsi HOM E15.5 0.00
abnormal craniofacial morphology Nxntm1b(EUCOMM)Wtsi HOM E12.5 0.00
abnormal head size Nxnem1(IMPC)Bay HOM E18.5 0.00
abnormal retina blood vessel morphology Nxntm1a(EUCOMM)Wtsi HET Early adult 3.95×10-05
microcephaly Nxntm1b(EUCOMM)Wtsi HET E15.5 0.00
preweaning lethality, complete penetrance Nxnem1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Nxnem1(IMPC)J HOM E18.5 0.00
preweaning lethality, incomplete penetrance Nxntm1a(EUCOMM)Wtsi HOM   Early adult 0.00
no spontaneous movement Nxntm1b(EUCOMM)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Nxnem1(IMPC)Mbp HOM   Early adult 0.00
abnormal snout morphology Nxntm1b(EUCOMM)Wtsi HET Early adult 3.54×10-06
cleft palate Nxntm1b(EUCOMM)Wtsi HOM E15.5 0.00
increased fasting circulating glucose level Nxnem1(IMPC)J HET   Early adult 7.74×10-06
abnormal mammary gland morphology Nxntm1b(EUCOMM)Wtsi HET Early adult 0.00
abnormal digit morphology Nxntm1b(EUCOMM)Wtsi HET Early adult 7.98×10-07
anophthalmia Nxntm1a(EUCOMM)Wtsi HET Early adult 0.00
increased effector memory CD8-positive, alpha-beta T cell number Nxntm1b(EUCOMM)Wtsi HET Early adult 1.13×10-07
abnormal cranium morphology Nxntm1b(EUCOMM)Wtsi HET Early adult 2.41×10-05
cleft palate Nxntm1b(EUCOMM)Wtsi HOM E18.5 0.00
irregularly shaped pupil Nxntm1a(EUCOMM)Wtsi HET Early adult 2.14×10-05
unresponsive to tactile stimuli Nxntm1b(EUCOMM)Wtsi HOM E18.5 0.00
increased mean corpuscular hemoglobin concentration Nxnem1(IMPC)J HET Early adult 1.28×10-05
facial cleft Nxnem1(IMPC)Bay HOM E18.5 0.00
increased circulating HDL cholesterol level Nxntm1b(EUCOMM)Wtsi HET Early adult 3.57×10-05
facial cleft Nxnem1(IMPC)J HOM E18.5 0.00
syndactyly Nxntm1b(EUCOMM)Wtsi HOM E15.5 0.00
abnormal facial morphology Nxntm1b(EUCOMM)Wtsi HOM E18.5 0.00
abnormal craniofacial morphology Nxntm1b(EUCOMM)Wtsi HOM E15.5 0.00
abnormal embryo size Nxnem1(IMPC)Bay HOM E18.5 0.00
abnormal behavior Nxntm1a(EUCOMM)Wtsi HET Early adult 6.44×10-05
preweaning lethality, complete penetrance Nxnem1(IMPC)J HOM   Early adult 0.00
abnormal optic disk morphology Nxntm1b(EUCOMM)Wtsi HET   Early adult 4.45×10-06
decreased exploration in new environment Nxntm1b(EUCOMM)Wtsi HET Early adult 8.74×10-08
short tibia Nxntm1b(EUCOMM)Wtsi HET Early adult 1.21×10-06
abnormal eyelid morphology Nxntm1b(EUCOMM)Wtsi HET Early adult 1.78×10-05
unresponsive to tactile stimuli Nxntm1b(EUCOMM)Wtsi HET E18.5 0.00
microcephaly Nxntm1b(EUCOMM)Wtsi HOM E15.5 0.00
abnormal locomotor behavior Nxntm1b(EUCOMM)Wtsi HET Early adult 6.68×10-05
cleft palate Nxnem1(IMPC)J HOM E18.5 0.00
decreased cardiac muscle contractility Nxntm1a(EUCOMM)Wtsi HET Early adult 4.43×10-06
syndactyly Nxntm1b(EUCOMM)Wtsi HET E15.5 0.00
increased circulating triglyceride level Nxntm1b(EUCOMM)Wtsi HET Early adult 8.46×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 83.33% (15 of 18)
Aorta  Wholemount images  Section images heterozygote 83.33% (15 of 18)
Bone  Wholemount images  Section images heterozygote 28.57% (4 of 14)
Brain  Wholemount images  Section images heterozygote 100% (18 of 18)
Brainstem  Wholemount images  Section images heterozygote 66.67% (12 of 18)
Brown adipose tissue  Wholemount images  Section images heterozygote 12.5% (2 of 16)
Cartilage tissue  Wholemount images  Section images heterozygote 66.67% (12 of 18)
Cecum  Wholemount images  Section images heterozygote 80% (8 of 10)
Cerebellum  Wholemount images  Section images heterozygote 61.11% (11 of 18)
Cerebral cortex  Wholemount images  Section images heterozygote 55.56% (10 of 18)
Chest bone  Wholemount images  Section images heterozygote 75% (6 of 8)
Colon  Section images heterozygote 75% (6 of 8)
Cranium  Section images heterozygote 25% (2 of 8)
Diaphragm  Wholemount images  Section images heterozygote 75% (6 of 8)
Duodenum  Wholemount images  Section images heterozygote 100% (6 of 6)
Epididymis  Wholemount images  Section images heterozygote 10% (1 of 10)
Esophagus  Wholemount images  Section images heterozygote 87.5% (14 of 16)
Eye  Wholemount images  Section images heterozygote 77.78% (14 of 18)
Gall bladder  Wholemount images  Section images heterozygote 85.71% (12 of 14)
Harderian gland  Wholemount images  Section images heterozygote 62.5% (5 of 8)
Heart  Wholemount images  Section images heterozygote 44.44% (8 of 18)
Hindlimb  Section images heterozygote 75% (6 of 8)
Hippocampus  Wholemount images  Section images heterozygote 55.56% (10 of 18)
Hypothalamus  Wholemount images  Section images heterozygote 55.56% (10 of 18)
Ileum  Wholemount images  Section images heterozygote 100% (6 of 6)
Jejunum  Wholemount images  Section images heterozygote 100% (6 of 6)
Kidney  Wholemount images  Section images heterozygote 100% (18 of 18)
Large intestine  Wholemount images  Section images heterozygote 88.89% (16 of 18)
Liver  Wholemount images  Section images heterozygote 11.11% (2 of 18)
Lower urinary tract  Wholemount images  Section images heterozygote 72.22% (13 of 18)
Lung  Wholemount images  Section images heterozygote 94.44% (17 of 18)
Lymph node  Wholemount images  Section images heterozygote 33.33% (6 of 18)
Main olfactory bulb  Wholemount images heterozygote 50% (4 of 8)
Mammary gland  Wholemount images  Section images heterozygote 44.44% (8 of 18)
Mesenteric adipose tissue  Wholemount images heterozygote 66.67% (4 of 6)
Mesenteric lymph node  Wholemount images heterozygote 20% (2 of 10)
Midbrain  Section images heterozygote 75% (6 of 8)
Olfactory lobe  Wholemount images  Section images heterozygote 66.67% (12 of 18)
Oral epithelium  Wholemount images  Section images heterozygote 50% (6 of 12)
Ovary  Wholemount images  Section images heterozygote 44.44% (8 of 18)
Oviduct  Wholemount images  Section images heterozygote 44.44% (8 of 18)
Pancreas  Wholemount images  Section images heterozygote 16.67% (3 of 18)
Parathyroid gland  Wholemount images  Section images heterozygote 28.57% (4 of 14)
Parotid gland  Wholemount images heterozygote 50% (4 of 8)
Penis  Wholemount images  Section images heterozygote 37.5% (3 of 8)
Peripheral nervous system  Wholemount images  Section images heterozygote 83.33% (15 of 18)
Peyer's patch  Wholemount images  Section images heterozygote 31.25% (5 of 16)
Pituitary gland  Wholemount images  Section images heterozygote 77.78% (14 of 18)
Prostate gland  Wholemount images  Section images heterozygote 38.89% (7 of 18)
Quadriceps  Wholemount images  Section images heterozygote 100% (6 of 6)
Sciatic nerve  Wholemount images heterozygote 50% (4 of 8)
Skeletal muscle  Wholemount images  Section images heterozygote 87.5% (14 of 16)
Skin  Wholemount images  Section images heterozygote 88.89% (16 of 18)
Small intestine  Wholemount images  Section images heterozygote 88.89% (16 of 18)
Spinal cord  Wholemount images  Section images heterozygote 77.78% (14 of 18)
Spleen  Wholemount images  Section images heterozygote 44.44% (8 of 18)
Stomach  Wholemount images  Section images heterozygote 94.44% (17 of 18)
Striatum  Wholemount images  Section images heterozygote 55.56% (10 of 18)
Sublingual gland  Wholemount images heterozygote 50% (4 of 8)
Submandibular gland  Wholemount images  Section images heterozygote 60% (6 of 10)
Testis  Wholemount images  Section images heterozygote 50% (9 of 18)
Thalamus  Section images heterozygote 25% (2 of 8)
Thymus  Wholemount images  Section images heterozygote 44.44% (8 of 18)
Thyroid gland  Wholemount images  Section images heterozygote 22.22% (4 of 18)
Tongue  Wholemount images  Section images heterozygote 75% (6 of 8)
Trachea  Wholemount images  Section images heterozygote 88.89% (16 of 18)
Trigeminal V nerve  Wholemount images heterozygote 60% (6 of 10)
Urinary bladder  Wholemount images  Section images heterozygote 83.33% (10 of 12)
Uterus  Wholemount images  Section images heterozygote 50% (9 of 18)
Vagina  Wholemount images  Section images heterozygote 37.5% (3 of 8)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 10)
Vascular system  Wholemount images  Section images heterozygote 87.5% (14 of 16)
Vesicular gland  Wholemount images heterozygote 20% (2 of 10)
White adipose tissue  Section images heterozygote 5.56% (1 of 18)
Blood vessel N/A heterozygote 100% (2 of 2)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 6)
Esophagus N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 8)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 95.83% (23 of 24)
Embryo N/A homozygote 85.71% (6 of 7)
Eye N/A heterozygote 87.5% (21 of 24)
Forelimb N/A heterozygote 87.5% (21 of 24)
Head N/A heterozygote 87.5% (21 of 24)
Heart N/A heterozygote 50% (12 of 24)
Hindlimb N/A heterozygote 87.5% (21 of 24)
Liver N/A heterozygote 45.83% (11 of 24)
Mandibular process N/A heterozygote 83.33% (20 of 24)
Maxillary process N/A heterozygote 83.33% (20 of 24)
Tail N/A heterozygote 87.5% (21 of 24)
Heart atrium N/A heterozygote 100% (6 of 6)
Heart atrium N/A homozygote 100% (3 of 3)
Axial skeleton N/A heterozygote 100% (8 of 8)
Axial skeleton N/A homozygote 100% (3 of 3)
Brain N/A heterozygote 87.5% (21 of 24)
Brain N/A homozygote 85.71% (6 of 7)
Central nervous system ganglion N/A heterozygote 80% (8 of 10)
Central nervous system ganglion N/A homozygote 100% (3 of 3)
Cranium N/A heterozygote 66.67% (4 of 6)
N/A Ambiguous
Dorsal root ganglion N/A heterozygote 100% (7 of 7)
Dorsal root ganglion N/A homozygote 100% (3 of 3)
Ear N/A heterozygote 83.33% (20 of 24)
Ear N/A homozygote 71.43% (5 of 7)
Outer ear N/A heterozygote 75% (6 of 8)
Outer ear N/A homozygote 100% (3 of 3)
Eye N/A homozygote 85.71% (6 of 7)
Femur pre-cartilage condensation N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Footplate N/A heterozygote 87.5% (21 of 24)
Footplate N/A homozygote 85.71% (6 of 7)
Forearm N/A heterozygote 87.5% (14 of 16)
Forearm N/A homozygote 100% (3 of 3)
Forebrain N/A heterozygote 87.5% (21 of 24)
Forebrain N/A homozygote 85.71% (6 of 7)
Forelimb N/A homozygote 85.71% (6 of 7)
Fronto-nasal process N/A heterozygote 85.71% (6 of 7)
Fronto-nasal process N/A homozygote 100% (3 of 3)
Gut N/A heterozygote 100% (8 of 8)
Gut N/A homozygote 66.67% (2 of 3)
Handplate N/A heterozygote 87.5% (21 of 24)
Handplate N/A homozygote 85.71% (6 of 7)
Head mesenchyme N/A heterozygote 100% (6 of 6)
Head mesenchyme N/A homozygote 100% (3 of 3)
Head N/A homozygote 85.71% (6 of 7)
Heart ventricle N/A heterozygote 100% (6 of 6)
Heart ventricle N/A homozygote 100% (3 of 3)
Heart N/A homozygote 71.43% (5 of 7)
Hindbrain N/A heterozygote 87.5% (21 of 24)
Hindbrain N/A homozygote 85.71% (6 of 7)
Hindlimb N/A homozygote 85.71% (6 of 7)
Humerus pre-cartilage condensation N/A heterozygote 66.67% (4 of 6)
N/A Ambiguous
Inner ear N/A heterozygote 66.67% (4 of 6)
N/A Ambiguous
Intestine N/A heterozygote 100% (6 of 6)
Intestine N/A homozygote 100% (3 of 3)
Liver N/A homozygote 71.43% (5 of 7)
Lower leg N/A heterozygote 87.5% (14 of 16)
Lower leg N/A homozygote 100% (3 of 3)
Lung N/A heterozygote 41.67% (10 of 24)
Lung N/A homozygote 71.43% (5 of 7)
Mandibular process N/A homozygote 71.43% (5 of 7)
Maxillary process N/A homozygote 71.43% (5 of 7)
Meckel's cartilage N/A heterozygote 100% (2 of 2)
Meckel's cartilage N/A homozygote 100% (3 of 3)
Mesonephros of female N/A heterozygote 50% (2 of 4)
N/A Ambiguous
Mesonephros of male N/A heterozygote 75% (3 of 4)
N/A Ambiguous
Metanephros N/A heterozygote 100% (4 of 4)
Metanephros N/A homozygote Not available
Midbrain N/A heterozygote 87.5% (21 of 24)
Midbrain N/A homozygote 85.71% (6 of 7)
Nasal septum N/A heterozygote 100% (6 of 6)
Nasal septum N/A homozygote 100% (3 of 3)
Nose N/A heterozygote 83.33% (10 of 12)
Nose N/A homozygote 100% (3 of 3)
Notochord N/A heterozygote 100% (7 of 7)
Notochord N/A homozygote 100% (3 of 3)
Oral cavity N/A heterozygote 45.83% (11 of 24)
Oral cavity N/A homozygote 71.43% (5 of 7)
Outflow tract N/A heterozygote 100% (6 of 6)
Outflow tract N/A homozygote 100% (3 of 3)
Pancreas N/A heterozygote 100% (4 of 4)
N/A Ambiguous
N/A heterozygote 100% (6 of 6)
N/A homozygote 100% (3 of 3)
Pharynx N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Chorioallantoic placenta N/A heterozygote Not available
Chorioallantoic placenta N/A homozygote Not available
Radius-ulna pre-cartilage condensation N/A heterozygote 66.67% (4 of 6)
N/A Ambiguous
Rib pre-cartilage condensation N/A heterozygote 100% (6 of 6)
Rib pre-cartilage condensation N/A homozygote 100% (2 of 2)
Skeleton N/A heterozygote 80% (8 of 10)
Skeleton N/A homozygote 100% (3 of 3)
Skin N/A heterozygote 83.33% (20 of 24)
Skin N/A homozygote 71.43% (5 of 7)
Spinal cord N/A heterozygote 81.82% (9 of 11)
Spinal cord N/A homozygote 100% (3 of 3)
Stomach N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Tail somite N/A heterozygote 87.5% (21 of 24)
Tail somite N/A homozygote 85.71% (6 of 7)
Tail N/A homozygote 85.71% (6 of 7)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (4 of 4)
Thoracic vertebral cartilage condensation N/A homozygote 100% (1 of 1)
Tongue N/A heterozygote 100% (4 of 4)
Tongue N/A homozygote 100% (1 of 1)
Trachea N/A heterozygote 100% (6 of 6)
N/A Ambiguous
Trunk mesenchyme N/A heterozygote 100% (6 of 6)
Trunk mesenchyme N/A homozygote 100% (3 of 3)
Umbilical artery embryonic part N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Umbilical vein embryonic part N/A heterozygote 100% (4 of 4)
N/A Ambiguous
Upper arm N/A heterozygote 87.5% (14 of 16)
Upper arm N/A homozygote 100% (3 of 3)
Upper leg N/A heterozygote 87.5% (14 of 16)
Upper leg N/A homozygote 100% (3 of 3)
Urinary system N/A heterozygote 100% (6 of 6)
N/A Ambiguous
Vibrissa N/A heterozygote 77.78% (7 of 9)
Vibrissa N/A homozygote 100% (3 of 3)

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
blood vessel
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%
oesophagus
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%
peyer's patch
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skeletal muscle tissue
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)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
meckel's cartilage Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
placenta Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system 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

290 Images

Eye Morphology

VIP of right eye

43 Images

Adult LacZ

LacZ Images Wholemount

276 Images

X-ray

XRay Images Forepaw

76 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

114 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

161 Images

X-ray

XRay Images Skull Lateral Orientation

99 Images

X-ray

XRay Images Forepaw

16 Images

Echo

M-Mode Images

32 Images

Eye Morphology

VIP of right fundus

44 Images

Eye Morphology

VIP of left eye

44 Images

Eye Morphology

VIP of left fundus

44 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

140 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

27 Images

Electrocardiogram (ECG)

Waveform Image

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Anti-nuclear antibody assay

Images

14 Images

Sleep Wake

Wake state (bmp file)

21 Images

Eye Morphology

Images Ophthalmoscopy

13 Images

X-ray

XRay Images Hind Leg and Hip

33 Images

MicroCT E18.5

Embryo reconstruction

22 Images

Embryo LacZ

LacZ images wholemount

129 Images

DSS Histology

Images

8 Images

Embryo LacZ

LacZ images section

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Eye Morphology

Images Slit Lamp

3 Images

Histopathology

Images

1 Images

Gross Morphology Embryo E14.5-E15.5

Images

2 Images

Immunophenotyping

Panel A FCS file(s)

27 Images

Immunophenotyping

Panel B FCS file(s)

21 Images

Auditory Brain Stem Response

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

19 Images

Ear epidermis immunophenotyping

Images

12 Images

Electroretinography 2

Rod and cone PDF

3 Images

Legacy Phenotype Associated Images

View all 91 images

Human diseases caused by Nxn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nxn by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Microcephaly 24, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Primary microcephaly OMIM:618179
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Thick corpus callosum, Macrocephaly, Poly... OMIM:615938
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... OMIM:600384
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Brachydactyly, Type A2, With Microcephaly
Microcephaly, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplasti... OMIM:211369
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft, Bilateral cleft lip and palate OMIM:600776
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Syngnathia
Cleft palate OMIM:119550
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, H... OMIM:607597
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Microcephaly, 2-3 toe syndactyly, Cleft palate, Facial cleft, Small thenar emine... OMIM:239800
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusori... OMIM:620294
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Facial cleft... ORPHA:952
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Sandal gap, Microcephaly OMIM:251220
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily sublux... OMIM:311895
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Bilateral cleft lip, Absent septum pellucidum, Cleft upper l... OMIM:601357
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Clinodactyly of the 5th finger, Clinodactyly of the 5t... OMIM:618010
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Abnormal cardiac septum mor... ORPHA:1937
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth, M... ORPHA:1786
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Ceroid Lipofuscinosis, Neuronal, 9
Psychomotor deterioration, Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod... OMIM:609055
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Anophthalmia Plus Syndrome
Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Brachycephaly, Facial cleft, Widely spaced teeth, High palate, Solita... ORPHA:66625
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Oculomaxillofacial Dysostosis
Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormality of the humer... ORPHA:1794
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Secondary microcephaly, ... OMIM:614326
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Micrognathia, Abnormal aortic morphology, Intrauterine growth retardat... ORPHA:2516
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal rib morphology, Abnor... ORPHA:1354
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... ORPHA:3268
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Feingold Syndrome Type 2
Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly ORPHA:391646
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly ORPHA:238446
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Ventricular septal defect, Short thumb, Abnormal heart morphology, Atrial septal d... ORPHA:401935
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c OMIM:618858
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger OMIM:601355
Frontonasal Dysplasia 3
Facial cleft, Cleft palate OMIM:613456
Optic Atrophy 2
Dysdiadochokinesis, Optic atrophy, Absent Achilles reflex OMIM:311050
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Gait disturbance, Loss of amb... OMIM:615043
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Smith-Magenis Syndrome
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Pes planus, Abnormality of the thyroid g... OMIM:182290
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Overlapping toe, Inability to walk, Optic atrophy OMIM:618572
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Microcep... OMIM:600325
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Familial Scaphocephaly Syndrome, Mcgillivray Type
Broad hallux phalanx, Toe syndactyly, Open bite, Macrocephaly, High palate, Dolichocephaly, Trigo... ORPHA:168624
Frontofacionasal Dysplasia
Encephalocele, Non-midline cleft lip, Brachycephaly, Cleft palate, Facial cleft, Hypoplasia of ol... ORPHA:1791
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes OMIM:610582
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... OMIM:607616
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Supernumerary Nostril
Facial cleft ORPHA:141096
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... ORPHA:166024
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Microcephaly, Brachycephaly, F... ORPHA:1236
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Claw hand deformity, Optic atrophy, Hammertoe, Pes cavus OMIM:618511
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus arteriosus, Brachydactyly OMIM:616589
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Adams-Oliver Syndrome 3
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... OMIM:614814
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Chromosome 22Q11.2 Deletion Syndrome, Distal
Intrauterine growth retardation, Truncus arteriosus OMIM:611867
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Unilateral Ocular Duplication
Encephalocele, Frontal bossing, Median cleft lip, Dolichocephaly, Midline facial cleft, Cleft pal... ORPHA:3374