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Gene: Efemp1 MGI:1339998

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Gene Summary

Name:
epidermal growth factor-containing fibulin-like extracellular matrix protein 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal cecum morphology Efemp1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Efemp1 mutations

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

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

The table below shows human diseases associated to Efemp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600

The table below shows human diseases predicted to be associated to Efemp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Gastroschisis
Gastroschisis, Intestinal atresia ORPHA:2368
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Choroideremia, Retinal nonattachment ORPHA:99000
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology... ORPHA:190
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Cataract 21, Multiple Types
Macular hypoplasia, Iris coloboma, Retinal detachment OMIM:610202
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Retinal detachment OMIM:212550
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Congenital Glaucoma
Retinal detachment ORPHA:98976
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
2q33.1 deletion syndrome
High palate, Inguinal hernia, Cleft palate DECIPHER:51
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Iris neovascularization, Abnor... ORPHA:94058
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Retinal detachment OMIM:225200
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia, Anal atresia, Aganglionic megacolon OMIM:235760
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Polydactyly-Myopia Syndrome
Inguinal hernia, Femoral hernia ORPHA:2917
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Cryptorchidism, Squared iliac bones, Short neck, Cellulitis, Ventral hernia, Atroph... OMIM:618000
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Weaver Syndrome
Scoliosis, Camptodactyly of finger, Cryptorchidism, Hypoplastic toenails, Broad thumb, Finger syn... ORPHA:3447
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424019
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dysphagia, Hirsutism, Coarse hair, Synophrys, Dense calvaria, Hepatomegaly, Hepar... OMIM:252930
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Rhiny
Inguinal hernia OMIM:180360
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... OMIM:610069
Trisomy 20P
Scoliosis, Cryptorchidism, Coarse hair, Short neck, Low posterior hairline, Low anterior hairline... ORPHA:261318
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Iris coloboma, Retinal detachment ORPHA:1473
Norrie Disease
Retinal dysplasia, Hypoplasia of the iris, Retinal detachment, Optic atrophy, Retinal fold OMIM:310600
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia OMIM:261550
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Intellectual Disability, Wolff Type
Scoliosis, Camptodactyly of finger, Cryptorchidism, Abnormality of the nail, Broad thumb, Short d... ORPHA:3080
Scarf Syndrome
Enamel hypoplasia, Cryptorchidism, Diastasis recti, Craniosynostosis, Short neck, Sparse hair, Bi... ORPHA:3134
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Multiple renal cysts, Gastrointestinal hemorrhage, Gastrointestinal infar... ORPHA:2869
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Decreased muscle mass, Joint laxity, Recurrent fractures, Coarse hair, Reduced subc... OMIM:248010
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Joint hyperflexibility, Atypical scarring of skin, Flexion contracture, Atrophic ... ORPHA:75496
Macs Syndrome
Osteoporosis, Joint hypermobility, Cryptorchidism, Scoliosis, Sparse hair, Hypergonadotropic hypo... OMIM:613075
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Occipital Horn Syndrome
Scoliosis, Large iliac wing, Coarse hair, Hyperextensible skin, Jaundice, High, narrow palate, Ab... ORPHA:198
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Familial Articular Hypermobility Syndrome
Inguinal hernia ORPHA:2295
Myopia, High, With Cataract And Vitreoretinal Degeneration
Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Hirsutism, Coarse hair, Synophrys, Dense calvaria, Hepatomegaly, Heparan sulfate ... OMIM:252900
Cutis Laxa, Autosomal Recessive, Type Iia
Scoliosis, Joint hypermobility, Congenital hip dislocation, Redundant skin, Cutis laxa, Lipodystr... OMIM:219200
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Dysphagia, Hirsutism, Flexion contracture, Coarse hair, Synophrys, Heparan sulfat... OMIM:252940
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
X-Linked Ehlers-Danlos Syndrome
Inguinal hernia, Gastroesophageal reflux, Hernia, Umbilical hernia ORPHA:75497
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Colonic Atresia
Colonic atresia, Omphalocele, Gastroschisis, Peptic ulcer, Duodenal stenosis ORPHA:1198
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Hirsutism, Coarse hair, Synophrys, Dense calvaria, Hepatomegaly, Heparan sulfate ... OMIM:252920
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Colonic Atresia
Colonic atresia OMIM:303650
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Hajdu-Cheney Syndrome
Scoliosis, Hypoplastic 5th lumbar vertebrae, Intestinal malrotation, Coarse hair, Short distal ph... ORPHA:955
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Cryptorchidism, Narrow palate, Camptodactyly, Hirsutism, Vesicoureteral reflux, Spina ... OMIM:235510
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Inguinal hernia, Small bowel diverticula, Femoral hernia OMIM:223330
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Macrovesicular hepatic steatosis, Hirsutism, Neutropenia, Coarse hair, Acetabu... OMIM:617303
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Schimke Immunoosseous Dysplasia
Thoracic kyphosis, Ovoid vertebral bodies, Elevated circulating thyroid-stimulating hormone conce... OMIM:242900
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Uveal Melanoma
Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology, Ciliary body mela... ORPHA:39044
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cigarette-paper scars, Decreased muscle mass, Joint laxity, Hyperextensible skin, Excessive skin ... OMIM:608763
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Umbilical hernia OMIM:617174
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Dubowitz Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Broad thumb, Sandal gap, Metatarsus adductus, Anemia... ORPHA:235
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scal... OMIM:613573
Widow'S Peak Syndrome
Cryptorchidism, Hip osteoarthritis, Widow's peak, Kyphosis, Narrow iliac wing, Inguinal hernia, A... OMIM:314570
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Sparse hair, Kyphosis, Joint contracture of the 5th finger, C... ORPHA:1883
Trichohepatoneurodevelopmental Syndrome
Scoliosis, Joint laxity, Coarse hair, Decreased liver function, Hypertrichosis, High palate, Hip ... OMIM:618268
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Ectopic anus, Cleft palate ORPHA:2476
Joint Laxity, Short Stature, And Myopia
Chorioretinal coloboma, Iris coloboma, Retinal detachment OMIM:617662
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Progeroid Syndrome, Petty Type
Shagreen patch, Abnormality of the nail, Sparse hair, Abnormal hair morphology, Redundant skin, C... ORPHA:2963
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology, Hernia ORPHA:101009
Hyperekplexia 4
Camptodactyly, Flexion contracture, Umbilical hernia, Inguinal hernia, Distal arthrogryposis, Hig... OMIM:618011
Occipital Horn Syndrome
Joint laxity, Coarse hair, Hyperextensible skin, Short clavicles, High palate, Osteoporosis, Limi... OMIM:304150
Weaver Syndrome
Scoliosis, Cryptorchidism, Hydrocele testis, Broad thumb, Camptodactyly, Cutis laxa, Metatarsus a... OMIM:277590
Megalocornea
Iridodonesis, Iris transillumination defect, Retinal detachment OMIM:309300
Spinal Muscular Atrophy, X-Linked 2
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion c... OMIM:301830
Rin2 Syndrome
Scoliosis, Joint hypermobility, Cryptorchidism, Hypergonadotropic hypogonadism, Redundant skin, H... ORPHA:217335
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Sparse hair, Congenital hip dislocation, Thick hair, Generalized joint lax... ORPHA:357074
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Scarf Syndrome
Enamel hypoplasia, Low anterior hairline, Diastasis recti, Cryptorchidism, Short neck, Sparse hai... OMIM:312830
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Cryptorchidism, Biconcave vertebral bodies, Kyphosis, Coarse hair... OMIM:130720
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Amelogenesis imperfecta, Hyperlordosis, Genu valgum, Coronal cleft vertebrae, Abnormal... OMIM:618363
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Cryptorchidism, Finger clinodactyly, Inguinal hernia, Supernumerary ribs, Coxa valga ORPHA:2958
Omphalocele
Omphalocele ORPHA:660
N-Acetylaspartate Deficiency
Inguinal hernia OMIM:614063
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Monosomy 5P
Scoliosis, Finger syndactyly, Joint hyperflexibility, Recurrent fractures, Inguinal hernia, Small... ORPHA:281
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Cryptorchidism, Radial deviation of finger, Inguinal hernia, Clinodactyly, 11 pairs... OMIM:309610
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment OMIM:127200
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Camptodactyly, Gastroesophageal reflux, Congenital contracture, Umbilical hernia, Inguinal hernia... OMIM:616266
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Male hypogonadism, Sparse hair, Absent eyelashes, Absent eyebrow, Thin nail, Premat... OMIM:618625
Mucolipidosis Type Iii
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:577
Sialidosis Type 2
Osteoporosis, Kyphosis, Flexion contracture, Umbilical hernia, Nephropathy, Hepatomegaly, Inguina... ORPHA:87876
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Fetal Hydantoin Syndrome
Triphalangeal thumb, Cryptorchidism, Bifid scrotum, Coarse hair, Short distal phalanx of finger, ... ORPHA:1912
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Finger syndactyly, Coarse hair, Inguinal hernia, Small hand, Spina bifida occulta... ORPHA:1786
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Antiphospholipid Syndrome, Familial
Iritis, Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Vitritis OMIM:107320
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Trichothiodystrophy 2, Photosensitive
Decreased fertility, Brittle hair, Coarse hair, Tiger tail banding OMIM:616390
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Cryptorchidism, Thoracic scoliosis, Umbilical hernia, Rudimentary postaxia... OMIM:600325
Hall-Riggs Syndrome
Scoliosis, Platyspondyly, Abnormal dental enamel morphology, Thick hair, Abnormality of epiphysis... ORPHA:2107
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Scoliosis, Inguinal hernia, Abnormal hip bone morphology, Generalized hirsutism, Hypospadias, Abn... ORPHA:2508
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Cryptorchidism, Inguinal hernia, Sparse hair ORPHA:1174
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Coffin-Lowry Syndrome
Scoliosis, Narrow palate, Cutis laxa, Coarse hair, High palate, Lumbar kyphosis, Narrow iliac win... OMIM:303600
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Joint laxity, Sparse hair, Cutis laxa, Hyperextensible skin, Cleft palate, Flared ... OMIM:615349
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Mucopolysaccharidosis Type 3
Scoliosis, Hirsutism, Coarse hair, Increased susceptibility to fractures, Joint stiffness, Abnorm... ORPHA:581
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment OMIM:157151
Rudiger Syndrome
Ovarian cyst, Ureterovesical stenosis, Flexion contracture, Inguinal hernia, Bicornuate uterus, H... OMIM:268650
Extensor Tendons Of Finger Anomalies
Osteoporosis, Camptodactyly of finger, Multiple lipomas, Skeletal muscle atrophy, Limitation of j... ORPHA:3294
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment OMIM:615113
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Scoliosis, Joint laxity, Primary amenorrhea, Dorsocervical fat pad, Short neck OMIM:616033
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Spinocerebellar Ataxia-Dysmorphism Syndrome
Joint hyperflexibility, Coarse hair, Hyperextensible skin, Slender long bone, Reduced bone minera... ORPHA:1185
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Hypopigmentation of hair, Albinism, Kyphosis, Pallor ORPHA:2786
Bazex-Dupré-Christol Syndrome
Sparse hair, Abnormality of finger, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Spar... ORPHA:113
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Finger syndactyly, Joint hyperflexibility, Abnormal eyelash morphology, Redundant... ORPHA:1252
Autosomal Dominant Cutis Laxa
Premature skin wrinkling, Joint hyperflexibility, Redundant skin, Cutis laxa, Umbilical hernia, I... ORPHA:90348
C Syndrome
Scoliosis, Fused sternal ossification centers, Cryptorchidism, Dislocated radial head, Postaxial ... OMIM:211750
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Abnormal muscle fiber morphology, Craniosynostosis, Broad thumb, 1-3 toe syndacty... OMIM:175700
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Increased bone mineral density, Alopeci... OMIM:136300
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cutis laxa, Hepatomegal... OMIM:301045
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Hypogonadism OMIM:615270
Familial Hyperprolactinemia
Osteoporosis, Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonad... ORPHA:397685
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Alopecia, Woolly scalp hair, Decreased testicular size, Woolly ha... OMIM:601217
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Umbilical hernia ORPHA:1373
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Long eyelashes in irregular rows, Wrist flexion contracture, Skeletal... OMIM:255800
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Cryptorchidism, Scoliosis, Elevated hepatic transaminase, Lack of skin elasticity, ... OMIM:615381
Lambert Syndrome
Inguinal hernia OMIM:245550
Ganglioneuroma
Functional intestinal obstruction, Gastrointestinal hemorrhage, Abnormal rectum morphology, Color... ORPHA:251992
Noonan Syndrome
Scoliosis, Cryptorchidism, Radioulnar synostosis, Abnormal hair quantity, Joint hyperflexibility,... ORPHA:648
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chron... ORPHA:79303
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Sparse hair, Dermal translucency, Cutis laxa, Inguinal hernia, Elbow flexion cont... OMIM:614438
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Retinal detachment OMIM:184000
Menkes Disease
Osteoporosis, Joint laxity, Sparse hair, Cutis laxa, Metaphyseal widening, Metaphyseal spurs OMIM:309400
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Hepatomegaly, Myopathy OMIM:618234
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Humeroradial synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, ... OMIM:151050
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Scoliosis, Acute rhabdomyolysis, Kyphosis, Long eyelashes,... ORPHA:48431
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility, Cryptorchidism, Overlapping toe, External genital hypoplasia, ... OMIM:600118
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Duodenal adenocarcinoma,... OMIM:174900
Anauxetic Dysplasia 3
Joint hypermobility, Platyspondyly, Hip subluxation, Small nail, Genu valgum, Squared iliac bones... OMIM:618853
Alpha-Mannosidosis
Scoliosis, Hip dysplasia, Macroglossia, Narrow palate, Synostosis of joints, Craniofacial hyperos... ORPHA:61
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Elevated hepatic transaminase, Joint laxity, Thrombocytope... OMIM:614727
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Increased bone mineral density, Abn... ORPHA:2658
Vogt-Koyanagi-Harada Disease
Vitiligo, Premature graying of hair, Poliosis, Retinal detachment, Hypopigmented skin patches ORPHA:3437
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Retinal detachment ORPHA:250984
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Aarskog-Scott Syndrome
Camptodactyly of finger, Cryptorchidism, Finger syndactyly, Joint hyperflexibility, High anterior... ORPHA:915
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Hirsutism, S... OMIM:214150
Ogden Syndrome
Scoliosis, Cryptorchidism, Cutis laxa, Torticollis, Inguinal hernia, Aplasia/Hypoplasia of the ey... ORPHA:276432
Hemochromatosis, Type 1
Osteoporosis, Cirrhosis, Azoospermia, Elevated hepatic transaminase, Amenorrhea, Hepatocellular c... OMIM:235200
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Cryptorchidism, Triphalangeal thumb, Osteoporosis, Aplasia of the ovar... ORPHA:2232
Mucopolysaccharidosis, Type Vi
Metaphyseal irregularity, Flared iliac wing, Split hand, Ovoid vertebral bodies, Hirsutism, Joint... OMIM:253200
Leprechaunism
Long penis, Enlarged kidney, Megarectum, Enlarged ovaries, Clitoral hypertrophy, Hyperextensible ... ORPHA:508
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Shagreen patch, Cryptorchidism, Abnormal hair quantity, Premature graying of hair, Kyp... ORPHA:2617
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cho... ORPHA:79301
Facioscapulohumeral Muscular Dystrophy 1
Retinal telangiectasia, Exudative retinal detachment OMIM:158900
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Highly arched eyebrow, Cryptorchidism, Arthrogryposis multiplex congenita, Kyphosis, J... ORPHA:352490
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Bladder Exstrophy
Intestinal malrotation, Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Arthrochalasia Ehlers-Danlos Syndrome
Scoliosis, Hip dysplasia, Joint hyperflexibility, Scarring, Hyperextensible skin, Avascular necro... ORPHA:1899
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Isolated Glycerol Kinase Deficiency
Osteoporosis, Cryptorchidism, Hyperlordosis, Scoliosis, Myopathy ORPHA:408
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Retinal detachment OMIM:604841
Bazex Syndrome
Joint hypermobility, Sparse hair, Coarse hair, Trichorrhexis nodosa, Pili torti, Trichoepithelioma OMIM:301845
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Sparse axillary hair, Primary ameno... OMIM:300068
Cerebrofaciothoracic Dysplasia
Scoliosis, Short neck, Coarse hair, Synophrys, Hemivertebrae, Rib fusion, Thick eyebrow, Hernia, ... ORPHA:1394
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Platyspondyly, Diaphragmatic eventration, Coarse hair, Thenar muscle atrophy, Nail dys... OMIM:612394
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Abnormality of the anterior pituitary, Renal hypoplasia, Coarse hair,... ORPHA:75389
Incontinentia Pigmenti
Nail pits, Ridged nail, Coarse hair, Erythema, Hemivertebrae, Supernumerary ribs, Eosinophilia, O... OMIM:308300
Orofaciodigital Syndrome Type 1
Abnormal dental enamel morphology, Tarsal synostosis, Tongue nodules, Hamartoma of tongue, Coarse... ORPHA:2750
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Cryptorchidism, Toe syndactyly, Abnormality of epiphysis m... ORPHA:3409
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Platyspondyly, Abnormal hair morphology, Metaphyseal irregularity, Onychauxis, Wide... ORPHA:319195
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Short neck, Postaxial han... ORPHA:1655
Cutis Laxa, Autosomal Recessive, Type Iiia
Scoliosis, Joint hypermobility, Cryptorchidism, Sparse hair, Congenital hip dislocation, Cutis la... OMIM:219150
Dermatosparaxis Ehlers-Danlos Syndrome
Scoliosis, Hyperextensible skin, Joint stiffness, Osteoporosis, Hip dysplasia, Rickets, Joint hyp... ORPHA:1901
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Peutz-Jeghers Syndrome
Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Hamartomatous p... OMIM:175200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Scoliosis, Biconcave vertebral bodies, Hepatic steatosis, Inguinal hernia, Generali... OMIM:236200
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Scoliosis, Platyspondyly, Dislocated radial head, Long eyelash... OMIM:614856
Donnai-Barrow Syndrome
Iris coloboma, Retinal detachment, Retinal dystrophy ORPHA:2143
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint hypermobility, Cryptorchidism, Narrow palate, Phalangeal dislocation, Long uvula, Hyperexte... ORPHA:536532
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Hip dysplasia, Short femur, Abnormality of pelvic girdle bone morpholo... ORPHA:1988
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Fundus atrophy OMIM:204100
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Camptodactyly, Increased female libido, Secondary amenorrhea, ... ORPHA:432
Ehlers-Danlos Syndrome, Periodontal Type, 1
Scoliosis, Soft skin, Intestinal perforation, Joint laxity, Generalized joint laxity, Palmoplanta... OMIM:130080
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Overlapping toe, Contracture of the distal interphalang... ORPHA:83617
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Postaxial hand polydactyly, High palate, Protein-los... OMIM:235255
Developmental And Epileptic Encephalopathy 73
Scoliosis, Inguinal hernia, Flexion contracture, Hip dysplasia OMIM:618379
Craniofrontonasal Dysplasia
Scoliosis, Craniosynostosis, Widow's peak, Broad hallux phalanx, Ridged fingernail, Sandal gap, C... ORPHA:1520
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment ORPHA:90653
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Joint contracture of the hand, Osteopenia OMIM:264010
Mucopolysaccharidosis, Type Vii
Scoliosis, Hirsutism, Anterior beaking of lumbar vertebrae, Metatarsus adductus, Acetabular dyspl... OMIM:253220
48,Xxyy Syndrome
Scoliosis, Infertility, Abnormal dental enamel morphology, Cryptorchidism, Azoospermia, Radioulna... ORPHA:10
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Craniosynostosis, Cutis laxa, Hyperextensible skin, Sandal gap, S... OMIM:245600
Simpson-Golabi-Behmel Syndrome, Type 2
Small nail, Congenital hip dislocation, Short finger, Multicystic kidney dysplasia, Radial deviat... OMIM:300209
Multiple Sulfatase Deficiency
Broad thumb, Mucopolysacchariduria, Broad hallux phalanx, Coarse hair, Hepatomegaly, Thick eyebro... ORPHA:585
Eec Syndrome
Nail pits, Abnormal dental enamel morphology, Split hand, Coarse hair, Slow-growing hair, Xerosto... ORPHA:1896
Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Increased bone mineral density, Secondary amenorrhea... ORPHA:902
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Umbilical hernia, Rectal prolapse, Inguinal hernia, Pyloric stenosis OMIM:613177
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Scoliosis, Hyperlordosis, Elevated hepatic transaminase, Hepatic steatosis, Muscula... OMIM:613327
Musculocontractural Ehlers-Danlos Syndrome
Scoliosis, Abnormality of mesentery morphology, Cryptorchidism, Arthrogryposis multiplex congenit... ORPHA:2953
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip subluxation, Recurrent fractures, Skeletal muscle atrophy, Hip dislocation OMIM:256720
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Clinodactyly of the 5th finger, Inguinal hernia, Hypoplasia of penis,... ORPHA:217385
Mucopolysaccharidosis, Type Iva
Scoliosis, Joint laxity, Constricted iliac wing, Chondroitin sulfate excretion in urine, Ovoid ve... OMIM:253000
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Omphalocele, X-Linked
Omphalocele OMIM:310980
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Cryptorchidism, Postaxial hand polydactyly, Absent eyelashes, Abnormality of the verte... OMIM:308205
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Cutis laxa, Sandal gap, Thick eyebrow, Syndactyly, Short neck, Brachydactyly, Fine hair OMIM:614800
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Delayed pubic bone ossification, Hyperlordosis, Platyspondyly, Genu valgum, Anterior r... OMIM:184250
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Aplasia/Hypoplasia of the eyebrow, Joint hyperflexibility, Sparse or absent eyelashes, Abnormalit... ORPHA:2891
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Long thumb, Hypertrichosis, Absent distal phalanges, High palate,... OMIM:618658
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Cryptorchidism, Sparse axillary hair, Primary amenorrhea, Sparse pubic hair, Hypogon... OMIM:146110
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Arthrogryposis multiplex congenita, Craniosynostosis, Hirsutism, Vesicoureteral r... OMIM:301056
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Exudative retinopathy, Retinal d... ORPHA:2788
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Hypopla... OMIM:309350
Premature Ovarian Failure 2B
Osteoporosis, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Costello Syndrome
Cryptorchidism, Macroglossia, Hypoplastic toenails, Thickened Achilles tendon, Abnormal dental en... ORPHA:3071
Lowry-Maclean Syndrome
Osteoporosis, Craniosynostosis, Midgut malrotation, Bilateral cryptorchidism, Generalized hypertr... ORPHA:2409
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Camptodactyly of finger, Toe syndactyly, Joint hyperflexibility, Decreased testicular ... ORPHA:85293
Popov-Chang syndrome
Scoliosis, Lymphopenia, Gastroesophageal reflux, Coarse hair, Small hand, Short foot, Clinodactyl... OMIM:618428
Hajdu-Cheney Syndrome
Foot acroosteolysis, Cryptorchidism, Joint laxity, Hirsutism, Intestinal malrotation, Pathologic ... OMIM:102500
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Joint laxity, Constricted ili... OMIM:253010
Shashi-Pena Syndrome
Osteoporosis, Highly arched eyebrow, Kyphosis, Scoliosis OMIM:617190
Williams Syndrome
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Joint laxity, Increased bone minera... ORPHA:904
Hurler Syndrome
Flared iliac wing, Hirsutism, Joint stiffness, Short clavicles, Short neck, Flexion contracture, ... OMIM:607014
Whistling Face Syndrome, Recessive Form
Short neck, Camptodactyly, Inguinal hernia, Microglossia, Kyphoscoliosis, Ulnar deviation of fing... OMIM:277720
De Barsy Syndrome
Cryptorchidism, Decreased muscle mass, Sparse hair, Dermal translucency, Generalized joint laxity... ORPHA:2962
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Cryptorchidism, Cutis laxa, Slender long bones with narrow diaphy... ORPHA:536471
Fontaine Progeroid Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Scrotal hypoplasia, Coarse hair, Short distal phalan... OMIM:612289
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse hair, Redundant skin, Sparse lateral eyebrow, Anal atresia, Sparse ... ORPHA:1807
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Increased susceptibility to frac... ORPHA:231222
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424016
Classical Ehlers-Danlos Syndrome
Scoliosis, Cigarette-paper scars, Phalangeal dislocation, Hyperextensible skin, Shoulder dislocat... ORPHA:287
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Retinal detachment OMIM:615145
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Cryptorchidism, Short metatarsal, Short phalanx of finger, Ky... OMIM:180870
Dyskeratosis Congenita
Scoliosis, Premature graying of hair, Anemia, Neoplasm of the pancreas, Aplastic/hypoplastic toen... ORPHA:1775
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Cryptorchidism, Abnormal morphology of female internal genita... ORPHA:2311
Sener Syndrome
Coarse hair, Umbilical hernia, Inguinal hernia, High palate, Anteriorly placed anus, Micropenis OMIM:606156
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Omphalocele, Cleft palate OMIM:258320
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia OMIM:609141
Cranioectodermal Dysplasia 2
Craniosynostosis, Sparse eyebrow, Joint laxity, Polydactyly, Cutis laxa, Horizontal ribs, Renal i... OMIM:613610
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Short neck, High palate, Flexio... OMIM:616809
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Radiation Proctitis
Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gastrointestinal vascula... ORPHA:70475
Emanuel Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Congenital diaphragmatic hernia, High pala... ORPHA:96170
Ehlers-Danlos Syndrome, Classic Type, 2
Joint hypermobility, Cigarette-paper scars, Soft skin, Congenital hip dislocation, Generalized jo... OMIM:130010
Persistent Müllerian Duct Syndrome
Inguinal hernia ORPHA:2856
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma ORPHA:2196
Perlman Syndrome
Cryptorchidism, Femoral hernia, Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Abnormal panc... ORPHA:2849
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Cantu Syndrome
Osteoporosis, Platyspondyly, Short hallux, Erlenmeyer flask deformity of the femurs, Hypoplastic ... OMIM:239850
3-Methylglutaconic Aciduria, Type Iv
Inguinal hernia OMIM:250951
Williams-Beuren Syndrome
Joint laxity, Premature graying of hair, Cutis laxa, Hypercalciuria, Vesicoureteral reflux, Pelvi... OMIM:194050
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Inguinal hernia, Umbilical hernia OMIM:613544
Aarskog-Scott Syndrome
Scoliosis, Cryptorchidism, Joint laxity, Widow's peak, Prominent umbilicus, Cervical spine hyperm... OMIM:305400
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment OMIM:615181
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... OMIM:605549
Ruvalcaba Syndrome
Scoliosis, Cryptorchidism, Hematuria, Abnormality of vertebral epiphysis morphology, Synostosis o... ORPHA:3121
Sim1-Related Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Scrotal hypoplasia, Clitoral hypoplasia, Xerostomia, Decreased testicu... ORPHA:398079
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Vacuolated lymphocytes, Beaking of vertebral bodies, Kyphosis, Hepatom... OMIM:230500
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Retinal detachment, Optic atrophy OMIM:152950
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Lack of facial subcutaneous fat, Elevated hepatic transaminase, Microcytic ane... ORPHA:2959
Mental Retardation, Autosomal Dominant 34
Curly hair, 2-3 toe syndactyly, Coarse hair, Synophrys, Short foot OMIM:616351
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Short neck, Toe syndac... ORPHA:3082
Gorlin-Chaudhry-Moss Syndrome
Low anterior hairline, Coarse hair, Umbilical hernia, Abnormality of the metacarpal bones, Short ... ORPHA:2095
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Cutis laxa,... ORPHA:96334
Spinocerebellar Ataxia With Dysmorphism
Scoliosis, Coarse hair OMIM:271270
Anti-Glomerular Basement Membrane Disease
Retinal detachment ORPHA:375
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Gastroschisis,... ORPHA:95427
Spondylo-Ocular Syndrome
Iris hypopigmentation, Retinal detachment ORPHA:85194
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys ORPHA:1021
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Dysphagia, Kyphosis, Flexion contracture, Generalized amyotrophy,... OMIM:618323
Opitz-Kaveggia Syndrome
Cryptorchidism, Narrow palate, Broad thumb, Split hand, Camptodactyly, Intestinal malrotation, Pr... OMIM:305450
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Sparse axillary hair, Abnormal internal genitalia, Female external genitalia in i... ORPHA:251510
Juvenile Polyposis Of Infancy
Clubbing of fingers, Subcutaneous lipoma, Hamartomatous polyposis, Intestinal bleeding, Gastroint... ORPHA:79076
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Granulomatous Slack Skin
Acute kidney injury, Redundant skin, Cutis laxa, Erythema, Nephrocalcinosis, Abnormality of the l... ORPHA:33111
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinur... ORPHA:100024
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Recurrent... ORPHA:2410
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Joint hypermobility, Clinodactyly, Fine hair, Fragile nails ORPHA:500166
Catifa Syndrome
Camptodactyly, Inguinal hernia, Cleft palate OMIM:618761
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Sparse hair, Finger syndactyly... ORPHA:1515
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic fibrosi... ORPHA:369
Sialuria
Scoliosis, 2-3 toe syndactyly, Synophrys, Hepatomegaly, Hypoplastic nipples, Inguinal hernia, Lon... OMIM:269921
Gm1 Gangliosidosis