Gene Summary

Name:
lysyl oxidase-like 1
Synonyms:
LOXL

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
increased fasting circulating glucose level Loxl1tm1.1(KOMP)Vlcg HET Early adult 1.52×10-05
abnormal retina morphology Loxl1tm1.1(KOMP)Vlcg HOM   Early adult 6.17×10-05
abnormal sleep behavior Loxl1tm1.1(KOMP)Vlcg HOM   Early adult 1.52×10-08
decreased circulating total protein level Loxl1tm1.1(KOMP)Vlcg HOM Early adult 1.75×10-05
convulsive seizures Loxl1tm1.1(KOMP)Vlcg HOM   Early adult 7.10×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous
Trunk mesenchyme N/A heterozygote 100% (1 of 1)
N/A 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%
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

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

Eye Morphology

Images Ophthalmoscopy

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

39 Images

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

X-ray

XRay Images Whole Body Lateral Orientation

39 Images

X-ray

XRay Images Forepaw

39 Images

X-ray

XRay Images Skull Lateral Orientation

39 Images

Sleep Wake

Wake state (bmp file)

20 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Slit Lamp

4 Images

Adult LacZ

LacZ Images Section

2 Images

Auditory Brain Stem Response

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

13 Images

Electroretinography

Cone waveform (pdf format)

8 Images

Electroretinography

Rod waveform (pdf format)

8 Images

Human diseases caused by Loxl1 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 Loxl1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650

The table below shows human diseases predicted to be associated to Loxl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Aldh18A1-Related De Barsy Syndrome
Cataract, Hyperextensible skin ORPHA:35664
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Retinal Degeneration And Epilepsy
Seizure, Retinal degeneration OMIM:267740
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Desmoid Disease, Hereditary
Colon cancer, Colorectal polyposis, Desmoid tumors OMIM:135290
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Emphysema, Redundant skin, Inguinal hernia, Uterine prolaps... OMIM:123700
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Neoplasm of the ... ORPHA:2869
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia ORPHA:3173
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Uterine rupture, Cryptorchidism, Pulmonary bulla, Pulmonary bleb, Cervical insuffici... OMIM:130050
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic s... OMIM:615006
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormal rectum morphology, Hamartomatous polyposis, Abnormal prosta... ORPHA:251992
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Elevated circulating ... OMIM:617389
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Polycystic ovaries, Dry skin, Hypergonadotropic hypogonadism, Subcapsular cataract OMIM:268020
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Elevated circulating alpha-aminoadipic semialdehyde concentration,... OMIM:266100
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Cleft palate, Omphalocele OMIM:258320
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal degeneration, Chorioretinal ... ORPHA:414
Classical Ehlers-Danlos Syndrome
Gastroesophageal reflux, Abnormal cornea morphology, Cigarette-paper scars, Umbilical hernia, Sof... ORPHA:287
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Stercoral ulcer, Anal fissure ORPHA:209964
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception OMIM:112200
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Cutis laxa, Congenital diaphragmatic hernia OMIM:614100
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Chorioretinal degeneration, Posterior subcapsular cataract OMIM:615458
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ... OMIM:174900
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Corneal erosion, Cutis laxa, Anal atresia, Rectovaginal fistula, Cleft pa... OMIM:270420
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Axenfeld-Rieger Syndrome
Anal stenosis, Redundant skin, Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal an... ORPHA:782
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Peutz-Jeghers Syndrome
Intestinal bleeding, Uterine neoplasm, Gastrointestinal carcinoma, Ovarian cyst, Multiple gastric... OMIM:175200
Ehlers-Danlos Syndrome, Classic Type, 2
Cigarette-paper scars, Soft, doughy skin, Atrophic scars, Recurrent sinusitis, Hyperextensible sk... OMIM:130010
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Cutis laxa, Redundant skin, Increased number of skin folds ORPHA:436274
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Seizure, Increased circulating ferritin concentration, Increased total bilirubin... OMIM:267700
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Adenomatous colonic polyposis, Adenocarcinoma of t... ORPHA:447877
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Loeys-Dietz Syndrome 3
Cataract, Spontaneous pneumothorax, Bifid uvula, Ectopia lentis, Umbilical hernia, Atrophic scars... OMIM:613795
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Achilles tendon contracture, Subcapsular cataract OMIM:612674
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:615127
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Redundant skin, Congenital diaphragmatic hernia ORPHA:171719
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis OMIM:615083
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology, Hernia ORPHA:101009
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Gastroesophageal ref... OMIM:613177
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Elevated circulating creatine... OMIM:614018
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio... ORPHA:67036
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Elbow flexion contracture, Inguinal hernia, Cryptorchidism, Excessive wrinkled skin, Cu... OMIM:614438
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-cl... OMIM:245570
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Bronchiectasis OMIM:615434
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Congenital Disorder Of Glycosylation, Type Ij
Infantile spasms, Hypoproteinemia, Seizure OMIM:608093
Retinitis Pigmentosa 13
Subcapsular cataract OMIM:600059
Rahman Syndrome
Camptodactyly, Redundant skin, Astigmatism, Cryptorchidism OMIM:617537
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... ORPHA:424016
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Ruijs-Aalfs Syndrome
Cataract, Posterior subcapsular cataract, Hypogonadism, Elbow flexion contracture, Lipodystrophy,... OMIM:616200
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Ectopia lentis, Broad uvula, Emphysema, Striae distensae, Ingui... OMIM:614816
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neopl... ORPHA:480536
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Cutis laxa, Dysphagia, Dry skin OMIM:612379
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Keratoconus, Pulmonary artery aneurysm, Cigarette-paper scars, Uterine ruptu... ORPHA:286
Citrullinemia Type Ii
Hypoalbuminemia, Seizure, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperamm... ORPHA:247585
Mhc Class I Deficiency 1
Bronchiolitis, Ectopia lentis, Skin ulcer, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse OMIM:619793
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Exudative Vitreoretinopathy 4
Subcapsular cataract OMIM:601813
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Cleft palate, Camptodactyly of finger ORPHA:1617
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:616187
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Coffin-Lowry Syndrome
Inguinal hernia, Uterine prolapse, Cutis laxa, High palate, Narrow palate, Rectal prolapse OMIM:303600
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Gyrate Atrophy Of Choroid And Retina
Posterior subcapsular cataract, Chorioretinal atrophy OMIM:258870
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Umbilical hernia, Inguinal hernia, Cryptorchidism, Hyperextensible skin, Cutis laxa, Co... OMIM:219150
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer... OMIM:147060
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Duodenal adenoc... ORPHA:157794
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Focal hemifacial clonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:608105
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Posterior subcapsular cataract OMIM:300619
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Radiation Proctitis
Hematochezia, Abnormality of connective tissue, Abnormal rectum morphology, Intestinal obstructio... ORPHA:70475
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Chanarin-Dorfman Syndrome
Subcapsular cataract OMIM:275630
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Seizure, Increased circulating ferritin concentration, Increased total bilirubin... OMIM:603553
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Chorioretinal atrophy OMIM:602772
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Barrett esophagus, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyosarcoma, Uteri... ORPHA:523
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Hernia, Cutis laxa, Developmental cataract, Corneal opacity, Dermal tra... OMIM:616603
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Bilateral tonic-clonic ... OMIM:616139
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Joint contracture of the hand, Intestinal lymphangiectasia, Umbilical... OMIM:235510
Alg8-Cdg
Cataract, Abnormality of subcutaneous fat tissue, Premature skin wrinkling, Abnormality of the ga... ORPHA:79325
Arterial Tortuosity Syndrome
Keratoconus, Bifid uvula, Umbilical hernia, Soft, doughy skin, Astigmatism, Congenital diaphragma... OMIM:208050
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin, Cleft palate ORPHA:1779
Agel Amyloidosis
Cataract, Tongue atrophy, Xerostomia, Dry skin, Respiratory tract infection, Keratoconjunctivitis... ORPHA:85448
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Retinitis Pigmentosa 46
Posterior subcapsular cataract OMIM:612572
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Cutis laxa, Redundant skin ORPHA:91135
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... OMIM:617113
Microphthalmia, Syndromic 12
Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Bicornuate uterus, Cleft... OMIM:615524
Hereditary Mucoepithelial Dysplasia
Cataract, Abnormal morphology of female internal genitalia, Furrowed tongue, Anorectal anomaly, T... ORPHA:1839
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Cryptorchidism OMIM:300578
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
Dubowitz Syndrome
Cataract, Anal stenosis, Abnormal female external genitalia morphology, Dry skin, Cryptorchidism,... ORPHA:235
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Periodontal Ehlers-Danlos Syndrome
Atrophic scars, Hyperextensible skin ORPHA:75392
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Cataract, Erythema, Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent... OMIM:614878
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Reduced C-peptide level, Bilateral tonic-clonic seizure with focal onset, Bila... OMIM:618856
Donnai-Barrow Syndrome
Abnormality of the uterus, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic her... ORPHA:2143
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s... ORPHA:98820
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,... OMIM:618587
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic... ORPHA:2382
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Wilson Disease
Sunflower cataract, Chondrocalcinosis, Kayser-Fleischer ring, Dysphagia, Esophageal varix, Hepato... OMIM:277900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Gastroesophageal reflux, Aspiration pneumonia, Cryptorchidism, Uterine prolap... ORPHA:438213
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa, Hypospadias OMIM:301045
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Anorectal Anomalies
Anal atresia, Rectovaginal fistula OMIM:107100
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin OMIM:301021
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hernia, Atrophic scars, Microcornea, Hyperextensible skin ORPHA:300179
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diverticula, Premature skin wrin... ORPHA:90348
Retinitis Pigmentosa 77
Posterior subcapsular cataract OMIM:617304
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Bilateral Acute Depigmentation Of The Iris
Recurrent upper respiratory tract infections, Abnormal corneal endothelium morphology, Pigment de... ORPHA:69736
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, Atypical scarring of skin, Camptodactyly of finger, Umbilical hernia, Striae distens... ORPHA:284984
Retinitis Pigmentosa 14
Posterior subcapsular cataract OMIM:600132
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
Retinitis Pigmentosa 83
Posterior subcapsular cataract OMIM:618173
Retinitis Pigmentosa 66
Posterior subcapsular cataract OMIM:615233
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of ... ORPHA:263516
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Amyloidosis, Finnish Type
Cataract, Cutis laxa, Lattice corneal dystrophy OMIM:105120
Ehlers-Danlos Syndrome, Periodontal Type, 2
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, Hyperextensible skin, Colon cancer OMIM:617174
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Cutis laxa, Inguinal hernia OMIM:619451
Exudative Vitreoretinopathy 1
Subcapsular cataract OMIM:133780
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Testicular torsion, Atrophic scars, Cryptorchidism, Hyperextensible sk... ORPHA:75496
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Neonatal Marfan Syndrome
High, narrow palate, Ectopia lentis, Megalocornea, Emphysema, Decreased testicular size, Iridodon... ORPHA:284979
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract OMIM:617547
Dengue Fever
Hypoproteinemia ORPHA:99828
Myotonic Dystrophy 2
Hypogonadism, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligozoo... OMIM:602668
Retinitis Pigmentosa 10
Posterior subcapsular cataract OMIM:180105
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Arthrogryposis multiplex congenita, Astigmatism, Cryptorchidism, Redundant neck skin,... OMIM:301056
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Redundant skin, Inguinal herni... OMIM:219100
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract OMIM:618195
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, High palate, Deep ant... OMIM:251750
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
De Barsy Syndrome
Cataract, Umbilical hernia, Cryptorchidism, Inguinal hernia, Excessive wrinkled skin, Lipodystrop... ORPHA:2962
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticula, Emphysema, Re... ORPHA:90349
Alport Syndrome
Anterior lenticonus, Posterior subcapsular cataract, Clitoral hypertrophy, Abnormal corneal endot... ORPHA:63
Macs Syndrome
Umbilical hernia, Redundant skin, Cryptorchidism, Hyperextensible skin, Cutis laxa, High palate, ... OMIM:613075
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic... OMIM:618141
Weaver Syndrome
Camptodactyly of finger, Redundant skin, Inguinal hernia, Cryptorchidism, Hypoplasia of penis ORPHA:3447
Ehlers-Danlos Syndrome, Classic Type, 1
Ectopia lentis, Cigarette-paper scars, Umbilical hernia, Bowel diverticulosis, Inguinal hernia, R... OMIM:130000
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Hyperextensible skin OMIM:619764
Retinitis Pigmentosa 72
Posterior subcapsular cataract OMIM:616469
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Seizure, Elevated circulating creatine kinase concentration OMIM:615895
Retinitis Pigmentosa 43
Posterior subcapsular cataract OMIM:613810
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Keratoconus, Atypical scarring of skin, Gastroesophageal reflux, Umbilical h... ORPHA:285
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Atypical scarring of skin, Lack of skin elasticity ORPHA:1366
Cystic Fibrosis
Gastroesophageal reflux, Absent vas deferens, Meconium ileus, Rectal prolapse, Pneumothorax, Stea... ORPHA:586
Rudiger Syndrome
Inguinal hernia, Ovarian cyst, Micropenis, Flexion contracture, Bicornuate uterus OMIM:268650
Costello Syndrome
Keratoconus, Gastroesophageal reflux, Abnormal dental enamel morphology, Redundant skin, Cryptorc... ORPHA:3071
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hyperextensible skin OMIM:615937
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:613855
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Cryptorchidism, Submucous cleft hard palate, Congenital diaphragmati... ORPHA:250999
Cat Eye Syndrome
Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticulum, Volvulus, Chorioreti... OMIM:115470
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Developmental Delay With Or Without Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:620540
Spondylodysplastic Ehlers-Danlos Syndrome
Soft skin, Posterior subcapsular cataract, Megalocornea, Elbow flexion contracture, Atrophic scar... ORPHA:536471
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... OMIM:609049
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Optic nerve hypoplasia ORPHA:250972
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Retinitis Pigmentosa 60
Posterior subcapsular cataract OMIM:613983
Scarf Syndrome
Perineal hypospadias, Bifid scrotum, Umbilical hernia, Inguinal hernia, Cryptorchidism, Cutis lax... ORPHA:3134
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Posterior subcapsular cataract, Astigmatism, Umbilical hernia OMIM:619234
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Ogden Syndrome
High, narrow palate, Inguinal hernia, Cryptorchidism, Pulmonary artery stenosis, Cutis laxa ORPHA:276432
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina... OMIM:243150
Cerebral Creatine Deficiency Syndrome 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Elevated circulating guan... OMIM:612736
Blepharonasofacial Malformation Syndrome
Inguinal hernia, Redundant skin, Cryptorchidism, Cleft palate ORPHA:1252
6P22 Microdeletion Syndrome
Hernia, Redundant skin ORPHA:251046
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Atrophic scars, Redundant skin, Astigmatism, Cryptorchidism, Inguinal... ORPHA:2953
Rafiq Syndrome
Flexion contracture, Cutis laxa OMIM:614202
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Progeroid Syndrome, Petty Type
Umbilical hernia, Redundant skin, Reduced subcutaneous adipose tissue, Cutis laxa, Lipoatrophy, S... ORPHA:2963
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Colonic stenosis, Acute colitis, Intestinal perforation, Intussusception ORPHA:90038
X-Linked Ehlers-Danlos Syndrome
Gastroesophageal reflux, Umbilical hernia, Inguinal hernia, Hyperextensible skin, Hernia ORPHA:75497
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:618012
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Cutis laxa, Scaling skin ORPHA:2269
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Leprechaunism
Megarectum, Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Labial hypertroph... ORPHA:508
Rin2 Syndrome
Umbilical hernia, Redundant skin, Cryptorchidism, Hyperextensible skin, High palate, Hypergonadot... ORPHA:217335
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Cutis Laxa, Autosomal Recessive, Type Iid
Cataract, Bilateral cryptorchidism, Redundant skin, Reduced subcutaneous adipose tissue, Inguinal... OMIM:617403
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Cutis Laxa, Autosomal Recessive, Type Iia
Redundant skin, Inguinal hernia, Excessive wrinkled skin, Lipodystrophy, Cutis laxa, High palate OMIM:219200
Retinitis Pigmentosa
Hypogonadism, Keratoconus, Posterior subcapsular cataract, Abnormal testis morphology ORPHA:791
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... ORPHA:99886
Chédiak-Higashi Syndrome
Seizure, Increased circulating ferritin concentration, Abnormality of retinal pigmentation, Hypon... ORPHA:167
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Meconium ileus, Ileus, Recurrent bronchopulmonary infections... OMIM:219700
Geroderma Osteodysplastica
Hernia, Microcornea, Redundant skin, Hyperextensible skin ORPHA:2078
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Cryptorchidism, Omphalocele ORPHA:1756
Williams Syndrome
Megalocornea, Cryptorchidism, Polycystic ovaries, Posterior embryotoxon, Flat cornea, Rectal prol... ORPHA:904
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Gastroesophageal reflux, Astigmatism, Redundant neck skin, High palate, Rectal prolapse, Soft skin OMIM:617157
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys ORPHA:3411
Ehlers-Danlos Syndrome, Classic-Like, 1
Atrophic scars, Ambiguous genitalia, female, Striae distensae, Hyperextensible skin, Hiatus herni... OMIM:606408
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Gastric varix, Panacinar emphysema, Bronchiectasis, Hepatocellular carcinoma OMIM:613490
Anauxetic Dysplasia 3
Cutis laxa, Recurrent respiratory infections, Gastroesophageal reflux OMIM:618853
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go... OMIM:194072
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Vaginal hernia, Cleft palate ORPHA:2916
Omenn Syndrome
Hypoproteinemia OMIM:603554
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... ORPHA:220460
Spondyloocular Syndrome
Unilateral cryptorchidism, Cataract, Posterior subcapsular cataract, Duodenal ulcer OMIM:605822
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Premature skin wrinkling, Hernia, Palmoplan... ORPHA:363705
Focal Facial Dermal Dysplasia Type Iii
Anal atresia, Redundant skin ORPHA:1807
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Anal atresia, Cryptorchidism, Rectal atresia OMIM:613390
Distal Deletion 19P
Keloids, Vaginal hernia, Cleft palate, Umbilical hernia ORPHA:96129
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Hyperextensible skin OMIM:608895
Arterial Tortuosity Syndrome
Keratoconus, Pyloric stenosis, Gastroesophageal reflux, Esophagitis, Median cleft palate, Inguina... ORPHA:3342
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture OMIM:160565
Microphthalmia, Syndromic 1
High, narrow palate, Pyloric stenosis, Microcornea, Joint contracture of the hand, Hypospadias, C... OMIM:309800
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess OMIM:620534
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Atypical scarring of skin, Umbilical hernia, Atrophic scars, Redundant skin, Cryptorc... OMIM:618000
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant skin, Inguinal hernia, Excessive wrinkled skin, Redundant neck skin, Abnormal subcutane... ORPHA:357074
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula... OMIM:101000
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Macrocephaly/Autism Syndrome
Cutis laxa, High palate, Hydrocele testis, Penile freckling OMIM:605309
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Microcornea, Umbilical hernia, Atrophic scars, Cleft soft palate, Inguinal hernia, Hyperextensibl... OMIM:614557
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Atrophic scars, Hyperextensible skin, Cutis laxa, Joint contracture, Dermal translucency, Cleft p... OMIM:615349
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Neutral Lipid Storage Disease With Ichthyosis
Subcapsular cataract ORPHA:98907
Trichothiodystrophy 8, Nonphotosensitive
Cutis laxa OMIM:619691
Cranioectodermal Dysplasia 4
Recurrent pneumonia, Cutis laxa OMIM:614378
Cutis Laxa, Autosomal Recessive, Type Iib
Gastroesophageal reflux, Redundant skin, Inguinal hernia, Excessive wrinkled skin, Lack of skin e... OMIM:612940
Donnai-Barrow Syndrome
Cataract, Hypoplasia of the iris, Intestinal malrotation, Umbilical hernia, Congenital diaphragma... OMIM:222448
Thanatophoric Dysplasia
Redundant skin, Pulmonary hypoplasia ORPHA:2655
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Clitoral hypertrophy, Erythema, Abnormal dental enamel mo... ORPHA:2556
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Thanatophoric Dysplasia Type 2
Redundant skin, Aplasia/Hypoplasia of the lungs ORPHA:93274
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Microcornea, Umbilical hernia, Abnormal scrotum morphology, Cryptorchidism, Inguin... ORPHA:2505
Cardiac Valvular Dysplasia, X-Linked
Cutis laxa OMIM:314400
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane, Precocious puberty ORPHA:79414
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Proteus-Like Syndrome
Cataract, Bronchogenic cyst, Subcutaneous lipoma, Abnormal pupil morphology, Polycystic ovaries, ... ORPHA:2969
Man1B1-Cdg
Cutis laxa ORPHA:397941
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Neuralgic Amyotrophy
Bifid uvula, Redundant neck skin, Cleft palate ORPHA:2901
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Ehlers-Danlos Syndrome, Hypermobility Type
Striae distensae, Scarring, Hyperextensible skin, Soft skin OMIM:130020
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Umbilical hernia, Redundant skin, Astigmatism, Cryptorchidism,... ORPHA:536532
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Umbilical hernia, Soft, doughy skin, Atrophic scars, Spontaneous neonatal pneumothorax, Redundant... OMIM:225410
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon, Abnormal pupil morphology ORPHA:2151
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal dental enamel morphology, Abnormal pupil morpholog... ORPHA:3163
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Colonic diverticula, Umbilical her... OMIM:194050
Immunodeficiency 49
Pulmonary artery stenosis, Cutis laxa, Umbilical hernia OMIM:617237
Bohring-Opitz Syndrome
Gastroesophageal reflux, Intestinal malrotation, Bilateral cleft palate, Unilateral cleft palate,... OMIM:605039
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Abnormal female external genitalia morphology, Umbilical hernia, Dry ski... ORPHA:920
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Hyperextensible skin, Aplasia/Hypoplasia of the lens ORPHA:85194
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Aarskog-Scott Syndrome
Megalocornea, Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Cryptorchidism, Hyperex... ORPHA:915
Fryns Syndrome