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Gene: Loxl1 MGI:106096

Gene Summary

Name:

lysyl oxidase-like 1

Synonyms:

LOXL

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased fasting circulating glucose level	Loxl1^{tm1.1(KOMP)Vlcg}	HET	Early adult	2.80×10^-05
convulsive seizures	Loxl1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.10×10^-05
abnormal sleep behavior	Loxl1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.52×10^-08
abnormal retina morphology	Loxl1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.17×10^-05
decreased circulating total protein level	Loxl1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.75×10^-05

Download data as: TSV XLS

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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
Heart	Section images	heterozygote	50% (1 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
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)
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)
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
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	Ambiguous
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
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

4 Images

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Auditory Brain Stem Response

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

13 Images

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Electroretinography

Cone waveform (pdf format)

8 Images

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Electroretinography

Rod waveform (pdf format)

8 Images

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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.

Human diseases associated with Loxl1 (1 diseases)
Human diseases predicted to be associated with Loxl1 (772 diseases)

The table below shows human diseases associated to Loxl1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Exfoliation Syndrome		Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650

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

Disease	Matching phenotypes	Source
Axin2-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm...	ORPHA:401911
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
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	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Desmoid Disease, Hereditary	Colorectal polyposis, Colon cancer, Desmoid tumors	OMIM:135290
Aldh18A1-Related De Barsy Syndrome	Hyperextensible skin, Cataract	ORPHA:35664
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin...	ORPHA:424019
Retinal Degeneration And Epilepsy	Seizure, Retinal degeneration	OMIM:267740
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Colorectal Cancer, Susceptibility To, 10	Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis, Endometrial carcinoma	OMIM:612591
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Redundant skin, Bronchiectasis, Cutis laxa, Hyperextensible skin, Uterine prolap...	OMIM:123700
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	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	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Infantile Spasms-Broad Thumbs Syndrome	Vaginal hernia, Cataract	ORPHA:3173
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hyperextensible skin, Uterine rupture, Ecchymosis, Emphysema, ...	OMIM:130050
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, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:22
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s...	OMIM:615006
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple...	ORPHA:251992
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Familial Adenomatous Polyposis 2	Adenomatous colonic polyposis, Colon cancer	OMIM:608456
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentrati...	OMIM:617389
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Dry skin, Hypergonadotropic hypogonadism, Subcapsular cataract, Polycystic ovaries	OMIM:268020
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im...	OMIM:619970
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Bicornuate uterus, Bifid uvula, Cleft palate	OMIM:258320
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Amyloidosis, Finnish Type	Lattice corneal dystrophy, Cutis laxa	OMIM:105120
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub...	ORPHA:414
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Classical Ehlers-Danlos Syndrome	Soft, doughy skin, Inguinal hernia, Hiatus hernia, Incisional hernia, Rectal prolapse, Cigarette-...	ORPHA:287
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis	OMIM:615083
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Clonic seizure, Elevated circulating alpha-aminoadipic semialdehy...	OMIM:266100
Solitary Rectal Ulcer Syndrome	Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer	ORPHA:209964
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposi...	ORPHA:447877
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Blue Rubber Bleb Nevus	Rectal prolapse, Intestinal bleeding, Volvulus, 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	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in...	OMIM:607208
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia, Redundant skin	OMIM:615721
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration	OMIM:615458
Developmental And Epileptic Encephalopathy 12	Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:613722
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia, Cutis laxa	OMIM:614100
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus	OMIM:613721
Epilepsy, Familial Adult Myoclonic, 5	Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome...	OMIM:613244
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Corneal erosion, Cleft palate, Cutis laxa, Rectovaginal fistula, Anal atr...	OMIM:270420
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Polyposis Syndrome, Hereditary Mixed, 2	Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol...	OMIM:610069
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst	OMIM:620086
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Increased number of skin folds, Redundant skin, Cutis laxa	ORPHA:436274
Peutz-Jeghers Syndrome	Rectal prolapse, Multiple gastric polyps, Hamartomatous polyposis, Ovarian cyst, Intestinal bleed...	OMIM:175200
Axenfeld-Rieger Syndrome	Anal stenosis, Posterior embryotoxon, Hypospadias, Redundant skin, Aplasia/Hypoplasia of the iris...	ORPHA:782
Hereditary Mixed Polyposis Syndrome	Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi...	ORPHA:157794
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th...	ORPHA:424016
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen...	OMIM:615871
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez...	ORPHA:70475
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Ehlers-Danlos Syndrome, Classic Type, 2	Cigarette-paper scars, Atrophic scars, Hyperextensible skin, Recurrent sinusitis, Hernia, Soft, d...	OMIM:130010
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Epilepsy, Familial Adult Myoclonic, 4	Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Achilles tendon contracture, Subcapsular cataract, Cataract	OMIM:612674
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Hernia, Hiatus hernia	ORPHA:101009
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Redundant skin, Congenital diaphragmatic hernia	ORPHA:171719
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se...	ORPHA:725
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Inguinal hernia, Redundant skin, Morgagni diaphragmatic hern...	OMIM:613177
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Generalized n...	OMIM:614018
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Loeys-Dietz Syndrome 3	Inguinal hernia, Cataract, Soft skin, Eosinophilic infiltration of the esophagus, Cystocele, Pneu...	OMIM:613795
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:245570
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Ruijs-Aalfs Syndrome	Cataract, Lipodystrophy, Posterior subcapsular cataract, Elbow flexion contracture, Hypogonadism,...	OMIM:616200
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Cataract, Cryptorchidism, Pyloric stenosis, Developmental glaucoma, Flexion cont...	OMIM:614438
Congenital Disorder Of Glycosylation, Type Ij	Seizure, Hypoproteinemia, Infantile spasms	OMIM:608093
Retinitis Pigmentosa 13	Subcapsular cataract	OMIM:600059
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,...	OMIM:607682
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Dry skin, Dysphagia, Cutis laxa	OMIM:612379
Restrictive Dermopathy 2	Rectal prolapse, Gastroesophageal reflux	OMIM:619793
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:617831
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen...	ORPHA:86909
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Bilateral tonic-clonic seizure, Retinal degeneration	OMIM:614322
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Exudative Vitreoretinopathy 4	Subcapsular cataract	OMIM:601813
Vascular Ehlers-Danlos Syndrome	Keratoconus, Inguinal hernia, Hypospadias, Redundant skin, Cryptorchidism, High, narrow palate, C...	ORPHA:286
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte...	ORPHA:247798
2Q24 Microdeletion Syndrome	Camptodactyly of finger, Cataract, Abnormality iris morphology, Cleft palate	ORPHA:1617
Epilepsy, Progressive Myoclonic 7	Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure	OMIM:616187
Rahman Syndrome	Cryptorchidism, Astigmatism, Redundant skin, Camptodactyly	OMIM:617537
Gyrate Atrophy Of Choroid And Retina	Posterior subcapsular cataract, Chorioretinal atrophy	OMIM:258870
Coffin-Lowry Syndrome	Inguinal hernia, Rectal prolapse, Narrow palate, Cutis laxa, High palate, Uterine prolapse	OMIM:303600
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Bronchiectasis	OMIM:615434
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure	OMIM:617863
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure	OMIM:162350
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General...	ORPHA:2382
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Posterior subcapsular cataract	OMIM:300619
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus	OMIM:608105
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Cataract, Cryptorchidism, Cutis laxa, Corneal arcus, Hyperextensible skin, Umbil...	OMIM:219150
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus	OMIM:618924
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure	OMIM:616409
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Optic atrophy, Seizure, Macular degeneration, Myoclonus, Rod-cone...	OMIM:204200
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At...	OMIM:617113
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Cataract, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyoma, Uterine le...	ORPHA:523
Chanarin-Dorfman Syndrome	Subcapsular cataract	OMIM:275630
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr...	OMIM:605021
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My...	OMIM:616139
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Chorioretinal atrophy	OMIM:602772
Dubowitz Syndrome	Anal stenosis, Cataract, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous c...	ORPHA:235
Alg8-Cdg	Abnormality of the gastrointestinal tract, Cataract, Abnormality of subcutaneous fat tissue, Cuti...	ORPHA:79325
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract, Cutis laxa, Hernia, Premature skin wrinkling, Dermal tra...	OMIM:616603
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Redundant skin, Cleft palate	ORPHA:1779
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act...	OMIM:616540
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Seizure, Hypoal...	OMIM:603553
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Redundant skin, Cutis laxa	ORPHA:91135
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene...	ORPHA:101071
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Arterial Tortuosity Syndrome	Keratoconus, Soft, doughy skin, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, ...	OMIM:208050
Agel Amyloidosis	Tongue atrophy, Cataract, Respiratory tract infection, Xerostomia, Cutis laxa, Keratoconjunctivit...	ORPHA:85448
Autosomal Recessive Cutis Laxa Type 1	Inguinal hernia, Cataract, Redundant skin, Pyloric stenosis, Pneumothorax, Recurrent pneumonia, L...	ORPHA:90349
Retinitis Pigmentosa 46	Posterior subcapsular cataract	OMIM:612572
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Cryptorchidism, Rectal prolapse, Pulmonary lymphangiectasia, Narrow palate, Pleural effusion, Pro...	OMIM:235510
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Cataract, Corneal dystrophy, Anorectal anomaly, Tracheoesophage...	ORPHA:1839
Epilepsy, Familial Adult Myoclonic, 3	Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Diabetes Mellitus, Permanent Neonatal, 2	Reduced C-peptide level, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with foca...	OMIM:618856
Periodontal Ehlers-Danlos Syndrome	Atrophic scars, Hyperextensible skin	ORPHA:75392
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,...	ORPHA:79076
Microphthalmia, Syndromic 12	Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Bicornuate...	OMIM:615524
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Bare Lymphocyte Syndrome, Type I	Ectopia lentis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Recurrent bronchitis	OMIM:604571
Donnai-Barrow Syndrome	Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Bicornuate uterus, Abnormal...	ORPHA:2143
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene...	OMIM:617350
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Ovarian neoplasm, Co...	ORPHA:157798
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Familial Focal Epilepsy With Variable Foci	Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo...	ORPHA:98820
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton...	OMIM:618587
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Posterior subcapsular cataract, Cataract	OMIM:300578
Lynch Syndrome 4	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm	OMIM:614337
Congenital Disorder Of Glycosylation, Type Iir	Hypospadias, Cutis laxa	OMIM:301045
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Cataract, Corneal erosion, Erythema, Enterocolitis, Ulcerativ...	OMIM:614878
Anorectal Anomalies	Rectovaginal fistula, Anal atresia	OMIM:107100
Retinitis Pigmentosa 77	Posterior subcapsular cataract	OMIM:617304
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Mitochondrial Complex I Deficiency, Nuclear Type 30	Redundant skin	OMIM:301021
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Microcornea, Atrophic scars, Hyperextensible skin, Hernia	ORPHA:300179
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Cryptorchidism, Gastroesophageal reflux, Aspiration pneumonia, Dysphagia, Ute...	ORPHA:438213
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Retinitis Pigmentosa 83	Posterior subcapsular cataract	OMIM:618173
Retinitis Pigmentosa 14	Posterior subcapsular cataract	OMIM:600132
Elastosis Perforans Serpiginosa	Cutis laxa	ORPHA:79148
Aneurysm-Osteoarthritis Syndrome	Inguinal hernia, Camptodactyly of finger, Cleft palate, Atypical scarring of skin, High palate, U...	ORPHA:284984
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli...	ORPHA:69736
Retinitis Pigmentosa 66	Posterior subcapsular cataract	OMIM:615233
Autosomal Dominant Cutis Laxa	Inguinal hernia, Redundant neck skin, Corneal opacity, Redundant skin, Emphysema, Bronchiectasis,...	ORPHA:90348
Ehlers-Danlos Syndrome, Periodontal Type, 2	Inguinal hernia, Atypical scarring of skin, Hyperextensible skin, Colon cancer, Umbilical hernia	OMIM:617174
Elastoderma	Premature skin wrinkling, Cutis laxa	ORPHA:228240
Exudative Vitreoretinopathy 1	Subcapsular cataract	OMIM:133780
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Retinitis Pigmentosa 23	Posterior subcapsular cataract	OMIM:300424
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
De Barsy Syndrome	Recurrent sinopulmonary infections, Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy, Cr...	ORPHA:2962
Cutis Laxa, Autosomal Recessive, Type Iie	Inguinal hernia, High palate, Cutis laxa	OMIM:619451
Progressive Myoclonic Epilepsy Type 3	Bilateral tonic-clonic seizure, Optic atrophy, Chin myoclonus, Photosensitive myoclonic seizure, ...	ORPHA:263516
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Myotonic Dystrophy 2	Posterior subcapsular cataract, Hypogonadism, Iridescent posterior subcapsular cataract, Oligozoo...	OMIM:602668
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract	OMIM:618195
Dengue Fever	Hypoproteinemia	ORPHA:99828
Retinitis Pigmentosa 10	Posterior subcapsular cataract	OMIM:180105
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Hyperextensible skin	OMIM:619764
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, High palate,...	OMIM:251750
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Lipodystrophy, Cryptorchidism, Flexion contracture, Cutis laxa, Atypical scarring of skin, Atroph...	ORPHA:75496
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Cystic Fibrosis	Recurrent respiratory infections, Absent vas deferens, Meconium ileus, Malabsorption, Rectal prol...	ORPHA:586
Alstrom Syndrome	Recurrent pneumonia, Hypergonadotropic hypogonadism, Subcapsular cataract	OMIM:203800
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m...	ORPHA:36387
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Hypospadias, Corneal opacity, Cryptorchidism, Megarectum, Astigmatism, Pulmo...	OMIM:301056
Weaver Syndrome	Hypoplasia of penis, Inguinal hernia, Redundant skin, Camptodactyly of finger, Cryptorchidism	ORPHA:3447
Retinitis Pigmentosa 72	Posterior subcapsular cataract	OMIM:616469
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Alport Syndrome	Clitoral hypertrophy, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Re...	ORPHA:63
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Inguinal hernia, Redundant skin, Congenital diaphragmatic herni...	OMIM:219100
Macs Syndrome	Hypergonadotropic hypogonadism, Redundant skin, Cryptorchidism, Bronchiectasis, Cutis laxa, Hyper...	OMIM:613075
Neonatal Marfan Syndrome	Iridodonesis, Lipoatrophy, Ectopia lentis, High, narrow palate, Emphysema, Flexion contracture, C...	ORPHA:284979
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619157
Fibrinolytic Defect	Hyperextensible skin	OMIM:134900
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Seizure, Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Rudiger Syndrome	Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Ehlers-Danlos Syndrome, Classic Type, 1	Inguinal hernia, Ectopia lentis, Cigarette-paper scars, Hyperextensible skin, Recurrent sinusitis...	OMIM:130000
Retinitis Pigmentosa 43	Posterior subcapsular cataract	OMIM:613810
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Cataract, Lack of skin elasticity	ORPHA:1366
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Hypogonadism, Scaling skin, Cutis laxa	ORPHA:2269
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hyperextensible skin	OMIM:615937
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus	OMIM:254800
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa...	OMIM:617106
Cerebral Creatine Deficiency Syndrome 2	Bilateral tonic-clonic seizure, Seizure, Myoclonus, Decreased serum creatinine, Elevated circulat...	OMIM:612736
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb...	OMIM:613855
Retinitis Pigmentosa 60	Posterior subcapsular cataract	OMIM:613983
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Umbilical hernia, Posterior subcapsular cataract, Astigmatism, Bilateral camptodactyly	OMIM:619234
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas...	OMIM:609049
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Spondylodysplastic Ehlers-Danlos Syndrome	Soft, doughy skin, Multiple joint contractures, Corneal opacity, Inguinal hernia, Cryptorchidism,...	ORPHA:536471
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms	ORPHA:250972
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Redundant neck skin, Lipodystrophy, Redundant skin, Abnormal subcutaneous fat ti...	ORPHA:357074
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Submucous cleft ...	ORPHA:250999
Scarf Syndrome	Bifid scrotum, Inguinal hernia, Cryptorchidism, Hepatocellular adenoma, Cutis laxa, Perineal hypo...	ORPHA:3134
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Total anomal...	OMIM:115470
Costello Syndrome	Keratoconus, Redundant skin, Abnormal dental enamel morphology, Cryptorchidism, Lack of skin elas...	ORPHA:3071
6P22 Microdeletion Syndrome	Redundant skin, Hernia	ORPHA:251046
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Lipoatrophy, Redundant skin, Cutis laxa, Umbilical hernia, S...	ORPHA:2963
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
Rafiq Syndrome	Flexion contracture, Cutis laxa	OMIM:614202
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Leprechaunism	Reduced subcutaneous adipose tissue, Enlarged ovaries, Overgrowth of external genitalia, Labial h...	ORPHA:508
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestina...	OMIM:243150
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Intestinal perforation, Rectal prolapse, Colonic stenosis, Intussusception, Acute colitis	ORPHA:90038
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz...	OMIM:618012
Musculocontractural Ehlers-Danlos Syndrome	Inguinal hernia, Redundant skin, Cryptorchidism, Malrotation of small bowel, Pneumothorax, Cleft ...	ORPHA:2953
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Blepharonasofacial Malformation Syndrome	Cryptorchidism, Inguinal hernia, Redundant skin, Cleft palate	ORPHA:1252
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Increased circulating fe...	ORPHA:167
X-Linked Ehlers-Danlos Syndrome	Inguinal hernia, Hyperextensible skin, Gastroesophageal reflux, Hernia, Umbilical hernia	ORPHA:75497
Rin2 Syndrome	Hypergonadotropic hypogonadism, Redundant skin, Cryptorchidism, Hyperextensible skin, High palate...	ORPHA:217335
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Ogden Syndrome	Inguinal hernia, Cryptorchidism, Pulmonary artery stenosis, High, narrow palate, Cutis laxa	ORPHA:276432
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Lipodystrophy, Redundant skin, Cutis laxa, Excessive wrinkled skin, High palate	OMIM:219200
Geroderma Osteodysplastica	Microcornea, Hyperextensible skin, Redundant skin, Hernia	ORPHA:2078
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Redundant neck skin, Rectal prolapse, Astigmatism, Gastroesophageal reflux, High palate, Soft skin	OMIM:617157
Williams Syndrome	Hypoplasia of penis, Redundant skin, Rectal prolapse, Gastroesophageal reflux, Megalocornea, Hypo...	ORPHA:904
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Cataract, Redundant skin, Bilateral cryptor...	OMIM:617403
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Caudal Duplication	Abnormal penis morphology, Omphalocele, Cryptorchidism, Uterus didelphys, Intestinal duplication	ORPHA:1756
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vaginal hernia, Abnormal dental enamel morphology, Cleft palate	ORPHA:2916
Ehlers-Danlos Syndrome, Classic-Like	Hiatus hernia, Increased connective tissue, Ambiguous genitalia, female, Atrophic scars, Hyperext...	OMIM:606408
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Anauxetic Dysplasia 3	Recurrent respiratory infections, Gastroesophageal reflux, Cutis laxa	OMIM:618853
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Pyloric stenosis, Gastrointestinal dysmotility, Cutis laxa, Macroglo...	ORPHA:363705
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A...	OMIM:194072
Macular Degeneration, Age-Related, 3	Hyperextensible skin, Choroidal neovascularization	OMIM:608895
Cystic Fibrosis	Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Ileus, Recurrent pneumoni...	OMIM:219700
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, Colon...	ORPHA:454840
Focal Facial Dermal Dysplasia Type Iii	Redundant skin, Anal atresia	ORPHA:1807
Myopathy, Tubular Aggregate, 1	Joint contracture, Abnormal pupil morphology, Flexion contracture	OMIM:160565
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Inguinal hernia, Cleft soft palate, Cutis laxa, Microcornea, Atrophic scars, Hyperextensible skin...	OMIM:614557
Fanconi Anemia, Complementation Group O	Cryptorchidism, Rectal atresia, External genital hypoplasia, Anal atresia	OMIM:613390
Distal Deletion 19P	Keloids, Umbilical hernia, Vaginal hernia, Cleft palate	ORPHA:96129
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Spondyloocular Syndrome	Posterior subcapsular cataract, Cataract, Unilateral cryptorchidism, Duodenal ulcer	OMIM:605822
Arterial Tortuosity Syndrome	Keratoconus, Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia, Pyloric stenosis, Pu...	ORPHA:3342
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Microphthalmia, Syndromic 1	Hypospadias, Aganglionic megacolon, Cryptorchidism, Rectal prolapse, High, narrow palate, Pyloric...	OMIM:309800
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Neutral Lipid Storage Disease With Ichthyosis	Subcapsular cataract	ORPHA:98907
Trichothiodystrophy 8, Nonphotosensitive	Cutis laxa	OMIM:619691
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cleft palate, Cutis laxa, Atrophic scars, Hyperextensible skin, Soft skin, Joint contracture, Der...	OMIM:615349
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Inguinal hernia, Redundant skin, Cryptorchidism, Atypical scarring of skin, Atrop...	OMIM:618000
Donnai-Barrow Syndrome	Omphalocele, Cataract, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplasia of the...	OMIM:222448
Cutis Laxa, Autosomal Recessive, Type Iib	Inguinal hernia, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Gastroesophage...	OMIM:612940
Williams-Beuren Syndrome	Colonic diverticula, Inguinal hernia, Celiac disease, Rectal prolapse, Flexion contracture, Blue ...	OMIM:194050
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Macrocephaly/Autism Syndrome	Hydrocele testis, High palate, Penile freckling, Cutis laxa	OMIM:605309
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Woolly Hair Nevus	Precocious puberty, Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Thanatophoric Dysplasia	Pulmonary hypoplasia, Redundant skin	ORPHA:2655
Thanatophoric Dysplasia Type 2	Aplasia/Hypoplasia of the lungs, Redundant skin	ORPHA:93274
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Man1B1-Cdg	Cutis laxa	ORPHA:397941
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Polycystic ovaries, Limbal dermoid, Bronchogenic cyst, Heter...	ORPHA:2969
Multiple Benign Circumferential Skin Creases On Limbs	Inguinal hernia, Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Increased number of sk...	ORPHA:2505
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Cardiac Valvular Dysplasia, X-Linked	Cutis laxa	OMIM:314400
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Cutis laxa	OMIM:614378
Loeys-Dietz Syndrome 4	Inguinal hernia, Flat cornea, Eosinophilic infiltration of the esophagus, High, narrow palate, Em...	OMIM:614816
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Posterior embryotoxon, Hypospadias, Corneal opacity, Sclerocornea, Cho...	ORPHA:2556
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Inguinal hernia, Spontaneous neonatal pneumothorax, Redundant skin, Atrophic scars, Hyperextensib...	OMIM:225410
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Bohring-Opitz Syndrome	Bilateral cleft palate, Intestinal malrotation, Flexion contracture, Narrow palate, Cutis laxa, G...	OMIM:605039
Ablepharon Macrostomia Syndrome	Omphalocele, Hypoplasia of penis, Corneal opacity, Redundant skin, Camptodactyly of finger, Corne...	ORPHA:920
Short Syndrome	Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod...	ORPHA:3163
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Bifid uterus, Cleft palate, Bifid uvula	ORPHA:2736
Congenital Tracheomalacia	Pneumonia, Esophageal atresia, Partial anomalous pulmonary venous return, Pneumothorax, Tracheoes...	ORPHA:95430
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Long uvula, Widened atrophic scar, Redundant skin, Cryptorchidis...	ORPHA:536532
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Spondylo-Ocular Syndrome	Cataract, Aplasia/Hypoplasia of the lens, Hyperextensible skin, Iris hypopigmentation	ORPHA:85194
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Abnormal corneal end...	ORPHA:364055
Aarskog-Scott Syndrome	Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Cleft palate, Hyperextensible skin, Sha...	ORPHA:915
Immunodeficiency 49	Umbilical hernia, Pulmonary artery stenosis, Cutis laxa	OMIM:617237
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Fryns Syndrome	Omphalocele, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Corneal opacity, Congeni...	ORPHA:2059
C Syndrome	Omphalocele, Cryptorchidism, Cutis laxa, High palate, Clitoral hypertrophy	OMIM:211750
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Cutis laxa	OMIM:610842
Mismatch Repair Cancer Syndrome 3	Neoplasm of the rectum, Colon cancer, Lisch nodules	OMIM:619097
Scarf Syndrome	Bifid scrotum, Inguinal hernia, Cryptorchidism, Cutis laxa, Perineal hypospadias, Umbilical herni...	OMIM:312830
Geroderma Osteodysplasticum	Neonatal wrinkled skin of hands and feet, Cutis laxa, Premature skin wrinkling, Camptodactyly, Re...	OMIM:231070
X-Linked Creatine Transporter Deficiency	Ileus, Aganglionic megacolon, Redundant skin	ORPHA:52503
Hec Syndrome	Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract	ORPHA:2119
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Atelectasis, ...	ORPHA:2357
Ehlers-Danlos Syndrome, Hypermobility Type	Soft skin, Hyperextensible skin, Striae distensae	OMIM:130020
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Inguinal hernia, Congenital diaphragmatic hernia, Developmental glaucoma, Elbow flexion contractu...	OMIM:245600
Coffin-Lowry Syndrome	Cataract, High palate, Redundant skin, Narrow palate	ORPHA:192
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Recombinant 8 Syndrome	Small scrotum, Redundant skin, Camptodactyly of finger, Cryptorchidism, Pulmonary artery stenosis...	ORPHA:96167
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Inguinal hernia, Congenital diaphragmatic hernia, Pulmonary artery a...	OMIM:614437
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis	OMIM:300455
Kleefstra Syndrome Due To A Point Mutation	Inguinal hernia, Precocious puberty, Developmental cataract, Hyperextensible skin, Gastroesophage...	ORPHA:261652
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Choroidal neovascularization, Cutis laxa	OMIM:264800
Menkes Disease	Cutis laxa	OMIM:309400
Thanatophoric Dysplasia Type 1	Aplasia/Hypoplasia of the lungs, Excessive wrinkled skin, Redundant skin	ORPHA:1860
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Anal atresia, Bifid uterus	OMIM:617466
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Palmoplantar cutis laxa, Uterine leiomyoma, Gastroesophageal reflux, Redundant skin	OMIM:616482
Schwannomatosis, Vestibular	Juvenile posterior subcapsular lenticular opacities, Cortical cataract	OMIM:101000
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ...	ORPHA:536516
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Anteriorly placed anus, Aganglionic megacolon, Cleft palate, Abnormal rectum morphology	OMIM:239300
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Cleft palate	OMIM:601076
Gapo Syndrome	Keratoconus, Redundant skin, High, narrow palate, Shallow anterior chamber, Umbilical hernia, Meg...	OMIM:230740
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,...	ORPHA:83628
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Ovotestis, Peters anomaly, Congenital diaphragmatic hernia, ...	OMIM:309801
Alg12-Cdg	Recurrent respiratory infections, Hypospadias, Redundant skin, Intestinal malrotation, Cryptorchi...	ORPHA:79324
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Gla...	OMIM:300219
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Cleft palate, Corneal scarring, Keratoglobus, Hyperextensible...	ORPHA:90354
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Rieger anomaly, Hypospadias, Polycoria, Microcornea, Hypoplasia of the iris, Ectop...	OMIM:180500
Emanuel Syndrome	Recurrent respiratory infections, Inguinal hernia, Redundant neck skin, Multiple joint contractur...	ORPHA:96170
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Seizure	ORPHA:158048
Werner Syndrome	Cataract, Lipodystrophy, Lipoatrophy, Pulmonary artery stenosis, Lack of skin elasticity, Skin ul...	ORPHA:902
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of...	ORPHA:254361
Steinert Myotonic Dystrophy	Endometrial carcinoma, Hypergonadotropic hypogonadism, Intestinal pseudo-obstruction, Oral-pharyn...	ORPHA:273
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Recurrent respiratory infections, Cataract, Cutis laxa, Macroglossia, High palate, Umbilical hern...	OMIM:266920
Congenital Muscular Dystrophy With Cerebellar Involvement	Macroglossia, Megalocornea, Cataract, Abnormality iris morphology	ORPHA:370959
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Leber Congenital Amaurosis 15	Posterior subcapsular cataract	OMIM:613843
Weaver Syndrome	Inguinal hernia, Cryptorchidism, Cutis laxa, Hydrocele testis, Camptodactyly, Umbilical hernia, J...	OMIM:277590
Mitochondrial Complex I Deficiency, Nuclear Type 35	Redundant neck skin, Pulmonary hypoplasia	OMIM:619003
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Redundant skin, Cryptorchidism, Submucous cleft hard p...	ORPHA:1340
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma, Cleft palate	ORPHA:3374
Duplication Of Urethra	Bifid scrotum, Clitoral hypertrophy, Hypospadias, Septate vagina, Rectourethral fistula, Epispadi...	ORPHA:237
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Recurrent respiratory infections, Inguinal hernia, Bilateral cryptorchidism, R...	OMIM:150230
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure, Elevated hemoglobin A1c	OMIM:619278
Immunodeficiency 40	Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Focal...	OMIM:616433
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Dysphagia	ORPHA:637
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Facial erythema	OMIM:620321
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Atrophic scars, Hyperextensi...	OMIM:130060
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Hypospadias, Cryptorchidism, Elbow flexion contracture, Cleft palate, Cutis laxa...	OMIM:151050
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Classic Phenylketonuria	Cataract, Lack of skin elasticity	ORPHA:79254
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Corneal opacity, Excessive wrinkled skin, Abnormal cornea morphology, Hyperexten...	ORPHA:357058
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Achalasia, Dysphagia	OMIM:300858
Ogden Syndrome	Inguinal hernia, Redundant neck skin, Redundant skin, Facial wrinkling, Cryptorchidism, Pulmonary...	OMIM:300855
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Abnormal lung lobation...	ORPHA:2538
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Redundant neck skin, Peters anomaly	OMIM:618652
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Familial Dysautonomia	Recurrent respiratory infections, Corneal opacity, Abnormal pleura morphology, Abnormal pupil mor...	ORPHA:1764
Li-Fraumeni Syndrome	Testicular neoplasm, Ovarian neoplasm, Neoplasm of the rectum, Neoplasm of the lung, Colon cancer...	ORPHA:524
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Ovarian Fibrothecoma	Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, Pleural effusion, Abnorm...	ORPHA:314478
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Hyperextensible skin, Petechiae, Striae distensae	OMIM:225310
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Hypospadias, Cataract, Protruding tongue, Brushfield spots, Cryptorchidism, ...	OMIM:214100
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Posterior subcapsular cataract	OMIM:271510
Ehlers-Danlos Syndrome, Periodontal Type, 1	Inguinal hernia, Hiatus hernia, Intestinal perforation, Atrophic scars, Hyperextensible skin, Pal...	OMIM:130080
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Narcolepsy 3	Narcolepsy	OMIM:609039
Antisynthetase Syndrome	Recurrent respiratory infections, Xerostomia, Lack of skin elasticity, Abnormal pulmonary interst...	ORPHA:81
Barber-Say Syndrome	Lipodystrophy, Redundant skin, Cryptorchidism, Hypoplastic labia minora, Velopharyngeal insuffici...	OMIM:209885
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Elbow flexion contractu...	OMIM:608328
Arthrochalasia Ehlers-Danlos Syndrome	Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hyperextensibl...	ORPHA:1899
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Bicorn...	OMIM:263210
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Abnormal cornea morphology, Recurrent bronchitis	OMIM:244400
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Cutis laxa	OMIM:614800
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Cutis Laxa, Autosomal Recessive, Type Iic	Reduced subcutaneous adipose tissue, Bilateral cryptorchidism, Pyloric stenosis, Pneumothorax, Cu...	OMIM:617402
Bronchopulmonary Dysplasia	Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration	ORPHA:70589
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha...	ORPHA:3348
Oeis Complex	Omphalocele, Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitali...	OMIM:258040
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Malabsorption, Hepatocellular carcinoma, Flexion contracture, Ovaria...	ORPHA:440437
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Cryptorchidism, Excessive ski...	ORPHA:2834
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Cardiofaciocutaneous Syndrome 4	Hyperextensible skin, Cataract	OMIM:615280
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Soft skin, Atrophic scars, Inguinal hernia, Hyperextensible skin	OMIM:225320
Cranioectodermal Dysplasia 3	Dry skin, Peripheral pulmonary artery stenosis, Cutis laxa	OMIM:614099
Diastrophic Dysplasia	Recurrent respiratory infections, Camptodactyly of finger, Cryptorchidism, Cleft palate, Hyperext...	ORPHA:628
Osteogenesis Imperfecta	Intestinal obstruction, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Flex...	ORPHA:666
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypoplasia of the iris, Astigmatism, High palate, Megalocornea, Abnormal anterior c...	ORPHA:2479
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,...	ORPHA:552
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Hypoplasia of the ovary	OMIM:615300
Lysinuric Protein Intolerance	Hyperextensible skin, Intraalveolar phospholipid accumulation, Pulmonary hemorrhage, Cutis laxa	OMIM:222700
Barber-Say Syndrome	Hyperextensible skin, Redundant skin, Shawl scrotum	ORPHA:1231
Neuhauser Syndrome	Iridodonesis, Hypoplasia of the iris, High palate, Dysphagia, Megalocornea, Bifid uvula	OMIM:249310
Fryns Syndrome	Bifid scrotum, Omphalocele, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptorch...	OMIM:229850
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Trichorhinophalangeal Syndrome Type 2	Redundant skin	ORPHA:502
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Narcolepsy 1	Narcolepsy	OMIM:161400
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Dermatosparaxis Ehlers-Danlos Syndrome	Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Hiatus hernia,...	ORPHA:1901
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Redundant s...	ORPHA:2658
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Rectal abscess, Conjunctiv...	OMIM:601495
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Flexion contracture, Ovarian ne...	ORPHA:144
Noonan Syndrome 8	Palmoplantar cutis laxa, Cryptorchidism, Pleural effusion, Hyperextensible skin	OMIM:615355
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Abnormal lung lobation, Trache...	ORPHA:958
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, True hermaphroditism, Congenital diaphragmatic hernia, Septa...	OMIM:194080
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, High palate, Redundant skin	OMIM:259100
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron...	ORPHA:79126
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Achalasia, Dysphagia	ORPHA:289483
Noonan Syndrome 10	Prominent corneal nerve fibers, Cryptorchidism, Hyperextensible skin, High palate, Palmoplantar c...	OMIM:616564
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Small scrotum, Redundant skin, Protruding tongue, Cryptorchi...	OMIM:612289
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Pulmonary hypoplasia, Vaginal atresia	OMIM:191830
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Whim Syndrome	Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Atelectasis, Recurre...	ORPHA:51636
Omodysplasia 2	Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, Gastroesophagea...	OMIM:164745
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Redundant skin, Micropenis, Hypoplastic labia majora, Anteriorly pla...	OMIM:200110
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Intestinal malrotation, Pulmonary situs ambiguus, Peribroncho...	ORPHA:244
Viss Syndrome	Chronic gastritis, High, narrow palate, Hyperextensible skin, High palate, Gastroesophageal reflu...	OMIM:619472
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, Redundant neck skin, Hypospadias, High palate, Shawl scrotum	OMIM:239710
Bartsocas-Papas Syndrome 1	Omphalocele, Anal stenosis, Inguinal hernia, Pterygium, Absent external genitalia, Bilateral cryp...	OMIM:263650
Specific Granule Deficiency 2	Hyperextensible skin, Recurrent pneumonia, Amelogenesis imperfecta	OMIM:617475
Combined Oxidative Phosphorylation Deficiency 2	Redundant neck skin	OMIM:610498
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Scarring, Hiatus hernia, Cryptorchidism, Pneumothorax, Cleft palate, Micr...	OMIM:601776
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Cigarette-paper scars, Hyperextensible skin, High palate, Joint contract...	OMIM:612350
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Redundant neck skin, Hernia	ORPHA:1842
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Redundant neck skin, External genital hypoplasia, Interphalangeal joint contracture ...	ORPHA:96334
Duane Retraction Syndrome	Central heterochromia, Abnormal pupil morphology, Anorectal anomaly, Cleft palate, Microcornea, H...	ORPHA:233
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	ORPHA:501
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus di...	OMIM:618820
Cardiac-Valvular Ehlers-Danlos Syndrome	Inguinal hernia, Myopic astigmatism, Atrophic scars, Hyperextensible skin, High palate, Soft, dou...	ORPHA:230851
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Cleft soft palate, Cryptor...	OMIM:619503
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae	OMIM:615877
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Keratoconus, Inguinal hernia, Recurrent pneumonia, Microcornea, Exce...	OMIM:225400
Neu-Laxova Syndrome	Cataract, External genital hypoplasia, Submucous cleft hard palate, Flexion contracture, Lack of ...	ORPHA:2671
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Pulmonary edema	OMIM:267450
Collagenoma, Familial Cutaneous	Iris atrophy, Primary testicular failure	OMIM:115250
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Oculopalatocerebral Syndrome	Leukocoria, Cleft palate	OMIM:257910
Alagille Syndrome	Keratoconus, Corneal dystrophy, Cryptorchidism, Abnormal pupil morphology, Peripheral pulmonary a...	ORPHA:52
Asbestos Intoxication	Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ...	ORPHA:2302
Leptospirosis	Papilledema, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuritis, Macular cotto...	ORPHA:509
Cranioectodermal Dysplasia 2	Inguinal hernia, Recurrent pneumonia, Cleft palate, Cutis laxa, High palate	OMIM:613610
Currarino Syndrome	Anal stenosis, Septate vagina, Perianal abscess, Gastrointestinal obstruction, Bicornuate uterus,...	OMIM:176450
Narcolepsy 7	Narcolepsy	OMIM:614250
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hyperextensible skin, Flexion contracture	ORPHA:157965
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Inguinal hernia, Malabsorption, Gastrointestinal dysmotility, Cystocele, Anorectal a...	ORPHA:285
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Atelectasis, Pleural effusion, Hypersensitivity pneumo...	ORPHA:2902
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Inguinal hernia, Widened atrophic scar, High, narrow palate, Recurrent pneumonia, Elbow flexion c...	ORPHA:1900
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis	ORPHA:922
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Atelectasis, Cleft palate, Skin ulcer, Cellulitis, Skin vesicle	ORPHA:2314
Facial Spasm	Anisocoria	OMIM:134300
Occipital Horn Syndrome	Redundant skin, Hiatus hernia, Hyperextensible skin, High palate, Soft skin	OMIM:304150
Relapsing Polychondritis	Cataract, Keratitis, Atelectasis, Erythema, Uveitis, Anteriorly placed anus, Conjunctivitis, Purpura	ORPHA:728
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Infant Acute Respiratory Distress Syndrome	Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema	ORPHA:70587
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Papillorenal Syndrome	Cataract, Lens luxation, Chorioretinal atrophy, Hyperextensible skin, Soft skin	OMIM:120330
Farber Disease	Corneal opacity, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory trac...	ORPHA:333
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Redundant skin, Congenital diaphragmatic hernia, Cryptorchidism, Cl...	ORPHA:116
Fibromuscular Dysplasia, Multifocal	Soft skin, Hiatus hernia, Pulmonary artery aneurysm, Atrophic scars, Hyperextensible skin, High p...	OMIM:619329
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Arthrogryposis multiplex congenita, Redundant neck skin, Pulmonary hypoplasia	OMIM:236500
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Hyperextensible skin	ORPHA:230839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Cleft palate, Buphthalmos, Macroglossia, Congenital contracture, Persis...	OMIM:613150
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, High, narrow palate, Pneumothorax, Abnormality iris morphology, Abnormality of c...	ORPHA:91387
Carpenter Syndrome 2	Bilateral cryptorchidism, Cryptorchidism, High, narrow palate, Narrow palate, Cutis laxa, Knee fl...	OMIM:614976
Gapo Syndrome	Keratoconus, Oligozoospermia, Hyperextensible skin, Hypogonadism, Umbilical hernia	ORPHA:2067
Fanconi Anemia	High palate, Abnormality of the uterus, Hypospadias, Aplasia/Hypoplasia of the uvula, Cryptorchid...	ORPHA:84
Huriez Syndrome	Dry skin, Lack of skin elasticity	ORPHA:384
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv...	ORPHA:2929
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Monorchism, Camptodactyly of finger, High, narrow palate, Submu...	ORPHA:2753
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Repeated pneumothoraces, Atelectasis, Microcornea, Atrophic scars, H...	ORPHA:536467
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Cataract, High palate, Lack of skin elasticity	ORPHA:90153
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Teebi Hypertelorism Syndrome 1	Omphalocele, Hydrocele testis, Bicornuate uterus, Pulmonary hypoplasia, Shawl scrotum	OMIM:145420
Oculodentodigital Dysplasia	Cataract, Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality iris morphology...	ORPHA:2710
Opitz Gbbb Syndrome	Bifid scrotum, Omphalocele, Enlarged ovaries, Inguinal hernia, Hypospadias, Congenital diaphragma...	ORPHA:2745
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy, Optic atrophy	OMIM:604121
Chromosome 18P Deletion Syndrome	Redundant neck skin, Cryptorchidism, Gonadal dysgenesis, High palate, Micropenis, Decreased testi...	OMIM:146390
Malakoplakia	Orchitis, Skin ulcer, Neoplasm of the rectum, Prostate neoplasm, Neoplasm of the colon	ORPHA:556
Microphthalmia, Syndromic 9	Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Agenesis of pulmonary vessels, ...	OMIM:601186
Immunodeficiency 47	Cutis laxa	OMIM:300972
Zygomycosis	Gastrointestinal hemorrhage, Fasciitis, Gastritis, Hematemesis, Atelectasis, Pneumothorax, Entero...	ORPHA:73263
Down Syndrome	Redundant neck skin, Aganglionic megacolon, Protruding tongue, Brushfield spots, Pulmonary artery...	OMIM:190685
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Rectal abs...	ORPHA:436252
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Redundant neck skin, Hypospadias, Narrow palate, Hypoplastic labia majora, Anterio...	OMIM:123790
Coats Disease	Leukocoria	OMIM:300216
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p...	OMIM:610978
Microsporidiosis	Pneumonia, Bronchitis, Keratitis, Prostatitis, Abnormal endometrium morphology, Keratoconjunctivi...	ORPHA:2552
C Syndrome	Omphalocele, Redundant skin, Female pseudohermaphroditism, Congenital diaphragmatic hernia, Crypt...	ORPHA:1308
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Inguinal hernia, Hyperextensible skin, Dermal translucency	OMIM:619115
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Esophageal at...	ORPHA:93271
Meconium Aspiration Syndrome	Atelectasis, Pneumothorax, Aspiration pneumonia	ORPHA:70588
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Corneal opacity, Esophageal varix, Abnormal pulmonary interstitial morphology, Skin ulcer, Azoosp...	ORPHA:2072
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Hypospadias, Intestinal malrotation, Esophageal atresia, Pulmonary artery stenosis, ...	OMIM:265380
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Inguinal hernia, Cataract, Hypospadias, Aganglionic megacolon, Intes...	ORPHA:567
Tetrasomy 5P	Recurrent respiratory infections, Pericallosal lipoma, Redundant neck skin, High palate, Pulmonar...	ORPHA:3309
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Redundant neck skin, Intestinal mal...	ORPHA:2729
Fraser Syndrome 2	Ambiguous genitalia, Rectal atresia, Intestinal malrotation, Anal atresia	OMIM:617666
Meacham Syndrome	Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism, Partial anomalous...	OMIM:608978
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Inguinal hernia, Cataract, Corneal opacity, Chorioretinal dyspl...	ORPHA:534
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Shagree...	ORPHA:538
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Cataract, Leukocoria, Cleft palate	ORPHA:2714
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Lack of skin elasticity, Excessive wrinkled skin, Multiple lipomas, ...	ORPHA:758
Chand Syndrome	Atelectasis, Bifid tongue, Cleft palate, Dry skin, Imperforate hymen	ORPHA:1401
Hydrocephalus, Congenital, 3, With Brain Anomalies	Redundant neck skin	OMIM:617967
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Redundant neck skin, Hypospadias, Cryptorchidism, Cleft palate, Anteriorly placed anus, Hernia	OMIM:217980
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Peripheral pulmonary artery stenosis, Septate vagina, Bicornuate uterus, Rectovaginal fistula, La...	OMIM:300707
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophag...	OMIM:270400
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Achalasia, Esophageal stenosis, Dysphagia	OMIM:615510
Mend Syndrome	Redundant neck skin, Cataract, Cryptorchidism, High palate, Anterior polar cataract	OMIM:300960
Waardenburg Syndrome Type 3	Atelectasis, Camptodactyly of finger	ORPHA:896
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Absent external genitalia, Aplasia of the vagina, Pulmonary hypoplasia, Aplasia ...	OMIM:271520
Zaki Syndrome	Hyperextensible skin, High palate, Congenital diaphragmatic hernia	OMIM:619648
Penile Agenesis	Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Bilateral lung agen...	ORPHA:49
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Hyperextensible skin, Dermal translucency	OMIM:619120
Fraser Syndrome 1	Abnormal small intestine morphology, Hypospadias, Corneal opacity, Cryptorchidism, Cleft palate, ...	OMIM:219000
Combined Oxidative Phosphorylation Deficiency 5	Redundant neck skin	OMIM:611719
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Redundant neck skin, Hypospadias, Glandular hypospadias, Narrow palate, Hypoplastic labia majora,...	OMIM:604314
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Soft, doughy skin, Hyperextensible skin, Esophagitis, Dermal translucency	ORPHA:541423
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Lobulated...	OMIM:269860
Alström Syndrome	Cataract, Precocious puberty in females, Hypergonadotropic hypogonadism, Dorsocervical fat pad, T...	ORPHA:64
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Uterus didelphys, Cleft palate, Pul...	OMIM:617925
Carney Complex	Ovarian dermoid cyst, Sertoli cell neoplasm, Dorsocervical fat pad, Neoplasm of the stomach, Test...	ORPHA:1359
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology, Gastroesophageal reflux,...	OMIM:620233
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Pulmonary artery stenosis, Bicornuate uterus, Labial hypoplasia, Anal atresia	ORPHA:140952
Pseudotrisomy 13 Syndrome	Omphalocele, Cryptorchidism, Bicornuate uterus, Micropenis, Anal atresia, Median cleft lip and pa...	OMIM:264480
Fraser Syndrome	Omphalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Anal stenosis, Cryptorchidism, Bifi...	ORPHA:2052
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Redundant neck skin, Flexion contracture, Macroglossia, Camptodacty...	ORPHA:254528
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Wrinkly Skin Syndrome	Inguinal hernia, Redundant skin, Cryptorchidism, Neonatal wrinkled skin of hands and feet, High p...	OMIM:278250
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Elbow flexion contracture, Uterus didelphys, Narrow palate, Bico...	OMIM:200980
Neu-Laxova Syndrome 1	Cataract, Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin, C...	OMIM:256520
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Inguinal hernia, Omphalo...	ORPHA:322
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Inguinal hernia, Cryptorchidism, Hyperextensible skin, High palate, Astigmatism	OMIM:607721
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology, Joint contracture of the hand	ORPHA:90658
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Gastroesophageal reflux, Camptodactyly	OMIM:617360
B4Galt1-Cdg	Redundant neck skin	ORPHA:79332
Shprintzen-Goldberg Craniosynostosis Syndrome	Inguinal hernia, Cryptorchidism, Narrow palate, Hyperextensible skin, High palate, Gastroesophage...	OMIM:182212
Revesz Syndrome	Leukocoria, Megalocornea, Oral leukoplakia	OMIM:268130
Hand-Foot-Genital Syndrome	Bicornuate uterus, Hypospadias, Abnormality of the uterus	ORPHA:2438
Knobloch Syndrome 1	Band keratopathy, Pyloric stenosis, Chorioretinal atrophy, Developmental cataract, Iris transillu...	OMIM:267750
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Rectal abscess, Cellulitis, Pleural effusion	OMIM:306400
Fountain Syndrome	Erythema, Hyperextensible skin	ORPHA:3219
Hand-Foot-Genital Syndrome	Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis	OMIM:140000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Anal stenosis, Hydrocele testis, High palate, Gastroesophag...	ORPHA:280633
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Limb-Mammary Syndrome	Chronic irritative conjunctivitis, Cleft hard palate, Cleft palate, Aplasia of the uterus, Aplasi...	ORPHA:69085
Frank-Ter Haar Syndrome	Redundant neck skin, Developmental glaucoma, Buphthalmos, High palate, Camptodactyly, Megalocornea	OMIM:249420
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Septate vagina, Uterus didelphys, Cleft palate, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Pelviscapular Dysplasia	Redundant neck skin, Elbow flexion contracture	ORPHA:93333
Kyphoscoliotic Ehlers-Danlos Syndrome	Inguinal hernia, Microcornea, Atypical scarring of skin, Hyperextensible skin, High palate, Soft,...	ORPHA:536545
Neurooculorenal Syndrome	Anteriorly placed anus, Cryptorchidism, Iris atrophy, Intestinal malrotation	OMIM:620305
Townes-Brocks Syndrome 1	Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T...	OMIM:107480
Alg9-Cdg	Omphalocele, Villous atrophy, Lipodystrophy, Abnormal lung lobation, Bicornuate uterus, Gastroeso...	ORPHA:79328
Noonan Syndrome With Multiple Lentigines	Hypospadias, Cryptorchidism, Excessive wrinkled skin, Hyperextensible skin, Abnormality of the pu...	ORPHA:500
Menkes Disease	Gastrointestinal hemorrhage, Inguinal hernia, Malabsorption, Atypical scarring of skin, Hyperexte...	ORPHA:565
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Abnormal dental enamel morphology, Cryptorchidism, Enamel hypoplasia...	ORPHA:2363
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Redundant neck skin, Hypospadias, Gastroesophageal reflux, Recu...	ORPHA:397715
Mowat-Wilson Syndrome	Bifid scrotum, Cataract, Hypospadias, Aganglionic megacolon, Pulmonary artery sling, Cryptorchidi...	OMIM:235730
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Protruding tongue, Increased connective tissue, Atelectasis, Flexion contracture, Macroglossia, G...	ORPHA:258
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Cleft palate	OMIM:201180
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy, Optic atrophy	ORPHA:314404
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Cryptorchidism, Micropenis, Redundant neck skin	ORPHA:2519
Spinocerebellar Ataxia-Dysmorphism Syndrome	Hyperextensible skin	ORPHA:1185
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Soft skin, Atrophic scars, Hyperextensible skin	OMIM:617821
Meckel Syndrome 14	Ambiguous genitalia, Pneumothorax, Pulmonary hypoplasia, Aplasia of the uterus	OMIM:619879
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Sclerocornea, High, narrow palate, Atelectasis, Recurrent pneumo...	OMIM:188400
Acromesomelic Dysplasia 1	Redundant skin on fingers	OMIM:602875
Lujo Hemorrhagic Fever	Atelectasis, Odynophagia, Dysphagia, Ecchymosis, Purpura	ORPHA:319213
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:168558
Shprintzen-Goldberg Syndrome	Inguinal hernia, Camptodactyly of finger, Cryptorchidism, High, narrow palate, Hyperextensible sk...	ORPHA:2462
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ectopia lentis, Flexion contracture, Cleft palate, Hyperextensible skin, High palate, Soft, dough...	OMIM:271640
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham...	ORPHA:91500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:289548
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Congenital diaphragmatic hernia...	OMIM:618280
Yunis-Varon Syndrome	Redundant neck skin, Hypospadias, Cataract, Sclerocornea, Cryptorchidism, High, narrow palate, Py...	ORPHA:3472
Fanconi Anemia, Complementation Group L	Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Aplasia of the uterus, Micropenis, A...	OMIM:614083
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Cryptorchidism, Esophageal atresia, Hyperextensible skin, High palate,...	ORPHA:506358
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Inguinal hernia, Hypospadias, Intestinal malrotation, Duodenal ...	OMIM:135900
Leukocyte Adhesion Deficiency, Type I	Rectal abscess, Skin ulcer	OMIM:116920
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Phocomelia, Schinzel Type	Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate...	ORPHA:2879
Noonan Syndrome 2	Cryptorchidism, Hyperextensible skin, High palate, Palmoplantar cutis laxa, Arthrogryposis multip...	OMIM:605275
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Hypospadias, Pyloric stenosis, Papillary cystadenoma of the epididymis, Bico...	ORPHA:93111
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Cleft palate, Aplasia of the uterus, Meckel diverticulum	OMIM:274000
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent pneumonia, Rectal abscess, Cellulitis	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent pneumonia, Rectal abscess, Cellulitis	OMIM:233710
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, High palate, Bifid uterus	ORPHA:1521
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Rectal abscess	OMIM:608203
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent pneumonia, Rectal abscess, Cellulitis	OMIM:233690
Retinoblastoma	Leukocoria, Uveitis, Cleft palate, Cellulitis, Hypopyon, Heterochromia iridis	ORPHA:790
Wolf-Hirschhorn Syndrome	Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Clef...	OMIM:194190
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Cleft soft palate, Precoci...	OMIM:619950
Atypical Werner Syndrome	Lipoatrophy, Lack of skin elasticity, Skin ulcer, Ovarian neoplasm, Neoplasm of the lung, Develop...	ORPHA:79474
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hyperextensible skin, Hypospadias, Iris coloboma	ORPHA:508498
Loeys-Dietz Syndrome	Camptodactyly of finger, Atypical scarring of skin, High palate, Uterine rupture, Bifid uvula, St...	ORPHA:60030
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, High, narrow palate, Atypical scarring ...	ORPHA:198
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Hyperextensible skin, Narrow palate	ORPHA:555877
Niemann-Pick Disease Type C	Generalized-onset seizure, Focal-onset seizure, Narcolepsy, Seizure, Status epilepticus, Myoclonus	ORPHA:646
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Absent anterior chamber of the eye	OMIM:259770
Zttk Syndrome	Unilateral lung agenesis, Submucous cleft hard palate, Flexion contracture, Hyperextensible skin,...	OMIM:617140
Hydrolethalus Syndrome 1	Omphalocele, Hypospadias, Bifid uterus, Abnormal lung lobation, Cleft palate, Abnormal vagina mor...	OMIM:236680
Spondylometaphyseal Dysplasia, Sedaghatian Type	Redundant skin	OMIM:250220
Ulnar-Mammary Syndrome	Anal stenosis, Small scrotum, Inguinal hernia, Pyloric stenosis, Elbow flexion contracture, Bicor...	OMIM:181450
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Pulmonary artery atresia, Umbilical hernia, Redundant neck skin	OMIM:618164
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Narcolepsy, Hyperlipidemia, Hyperkalemia, Seizure	ORPHA:293987
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Cleft hard palate, Abnormal pupil morphology, Flexion contracture, Microcornea, We...	ORPHA:261552
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High palate, Aplasia of the uterus, Unicornu...	OMIM:614527
Roberts-Sc Phocomelia Syndrome	Cataract, Hypospadias, Enlarged labia minora, Corneal opacity, Ankle flexion contracture, Cryptor...	OMIM:268300
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Macroglossia, Bic...	OMIM:269150
Retinoblastoma	Leukocoria, Cleft palate	OMIM:180200
Autosomal Recessive Faciodigitogenital Syndrome	Hyperextensible skin, High palate, Shawl scrotum	ORPHA:1974
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Cleft palat...	OMIM:154400
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ...	ORPHA:284339
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory tract infection, Atelectasis, Flexion contracture, Macroglossia, Dysphagia	ORPHA:365
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Coronal hypospadias, Xerostomia, Hyperextensible skin, Conjunctivitis, R...	OMIM:149730
Renal Cysts And Diabetes Syndrome	Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens	OMIM:137920
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Sacral Defect With Anterior Meningocele	Sacral lipoma, Rectal abscess	OMIM:600145
Costello Syndrome	Redundant neck skin, Pyloric stenosis, Achilles tendon contracture, Pneumothorax, Macroglossia, H...	OMIM:218040
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br...	OMIM:615067
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Flexion contracture, Cleft palate, Atrophic scars, Hyperextensible skin, Bifid uvula	OMIM:130070
Kosaki Overgrowth Syndrome	Hyperextensible skin	OMIM:616592
Pallister-Killian Syndrome	Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Anteriorly placed anus, Camp...	OMIM:601803
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis	OMIM:618278
African Trypanosomiasis	Seizure, Papilledema, Optic neuritis, Narcolepsy	ORPHA:3385
Yunis-Varon Syndrome	Redundant neck skin, Hypospadias, Cataract, Sclerocornea, Cryptorchidism, Pyloric stenosis, High ...	OMIM:216340
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Narrow palate, Anteriorly ...	OMIM:276820

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Loxl1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Loxl1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Update on Animal Models of Exfoliation Syndrome.	Journal of glaucoma (July 2018)	Loxl1^{tm1(KOMP)Vlcg} Loxl1^{tm1.1(KOMP)Vlcg}	29419647
Lysyl Oxidase-Like 1 Protein Deficiency Protects Mice from Adenoviral Transforming Growth Factor-β1-induced Pulmonary Fibrosis.	American journal of respiratory cell and molecular biology (April 2018)	Loxl1^{tm1.1(KOMP)Vlcg}	29115860
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Loxl1^{tm1.1(KOMP)Vlcg}	PMC5503261

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Loxl1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Loxl1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Loxl1 MGI:106096

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Embryo LacZ

X-ray

X-ray

X-ray

X-ray

X-ray

Sleep Wake

Eye Morphology

Adult LacZ

Eye Morphology

Auditory Brain Stem Response

Electroretinography

Electroretinography

Human diseases caused by Loxl1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data