Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  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 100% (2 of 2)
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 0.0% (0 of 2)
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 100% (2 of 2)
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 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood 0.0%
bone marrow 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.65% (21 of 372)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
chest bone Unavailable
colon 15.79% (21 of 133)
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 15% (21 of 140)
esophagus 1.75% (7 of 400)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.76% (1 of 132)
heart 0.17% (1 of 576)
hindlimb 0.0%
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
ileum 14.6% (20 of 137)
jejunum 8.82% (12 of 136)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.32% (1 of 315)
midbrain 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.17% (1 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.4% (2 of 143)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
tongue 3.7% (5 of 135)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 571)
vagina 0.0%
vas deferens 4.75% (18 of 379)
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.

X-ray

XRay Images Hind Leg and Hip

4 Images

Adult LacZ

LacZ Images Section

89 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

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.

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
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
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
Intestinal atresia, Gastroschisis 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
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Coats Disease
Abnormal macular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnormal retinal... ORPHA:190
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Cataract 21, Multiple Types
Iris coloboma, Retinal detachment, Macular hypoplasia OMIM:610202
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Macular atrophy, Chorioretinal coloboma OMIM:212550
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Congenital Glaucoma
Retinal detachment ORPHA:98976
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane OMIM:225200
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
2q33.1 deletion syndrome
High palate, Cleft palate, Inguinal hernia DECIPHER:51
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... OMIM:619350
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Neovascular Glaucoma
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Retinal detachment, Ab... ORPHA:94058
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Coats Disease
Exudative retinal detachment, Retinal telangiectasia, Leukocoria OMIM:300216
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, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon, Inguinal hernia OMIM:235760
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Coarse h... OMIM:252900
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Stickler Syndrome Type 2
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Polydactyly-Myopia Syndrome
Femoral hernia, Inguinal hernia ORPHA:2917
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Joint stiffness, Hypertrichosis, Hirsutism, Hepatomegaly, Beaking of vertebral bo... OMIM:252930
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia OMIM:261550
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal squamous cell carc... ORPHA:424019
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Weaver Syndrome
Joint stiffness, Hypoplastic toenails, Thin nail, Hypoplasia of penis, Inguinal hernia, Redundant... ORPHA:3447
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Rhiny
Inguinal hernia OMIM:180360
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Trisomy 20P
Abnormality of the ureter, Coarse hair, Short neck, Platyspondyly, Umbilical hernia, Ectopic anus... ORPHA:261318
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Iris coloboma, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Clinodactyly of the 5th finger, Cryptorchidism, Inguinal hernia, ... ORPHA:3080
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, S... ORPHA:2869
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Scarf Syndrome
Diastasis recti, Short sternum, Sparse hair, Inguinal hernia, Micropenis, Craniosynostosis, Bifid... ORPHA:3134
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Coarse hair, Short neck, Heparan sulfate excretion in urine, Platyspondyly, Anterio... OMIM:253220
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Reduced subcutaneous adipose tissue, Recurrent fractures, Epiphyseal dysplasia, Coarse hair, Oste... OMIM:248010
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Familial Articular Hypermobility Syndrome
Inguinal hernia ORPHA:2295
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Kyphoscoliosis, Flexion contracture, Sparse eyebrow, Sparse eyelashes, Osteope... ORPHA:75496
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Idiopathic Uveal Effusion Syndrome
Retinal fold, Subretinal fluid, Exudative retinal detachment ORPHA:209956
Occipital Horn Syndrome
Hiatus hernia, Osteopenia, Coarse hair, Abnormality of the pubic bone, Humerus varus, Down-slopin... ORPHA:198
Cutis Laxa, Autosomal Recessive, Type Iia
High palate, Abnormality of hair texture, Brittle hair, Inguinal hernia, Cutis laxa, Redundant sk... OMIM:219200
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:601813
X-Linked Ehlers-Danlos Syndrome
Hernia, Gastroesophageal reflux, Inguinal hernia, Umbilical hernia ORPHA:75497
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Colonic Atresia
Peptic ulcer, Colonic atresia, Omphalocele, Duodenal stenosis, Gastroschisis ORPHA:1198
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Inguinal hernia, Craniosynosto... OMIM:619451
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Facial hirsutism, Coarse hair, Short neck, Heparan sulfate excretion in urine, Achi... OMIM:252940
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Colonic Atresia
Colonic atresia OMIM:303650
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Heparan sulf... OMIM:252920
X-Linked Dominant Chondrodysplasia Punctata
High palate, Kyphoscoliosis, Anterior rib punctate calcifications, Flexion contracture, Abnormall... ORPHA:35173
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Hajdu-Cheney Syndrome
Hepatomegaly, Cleft palate, Osteopenia, Coarse hair, Short neck, Biconcave vertebral bodies, Oste... ORPHA:955
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Ciliary body melanoma, Retinal detachment, Mydriasis, Abnorma... ORPHA:39044
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Horseshoe kidney, Pericardial lymphangiectasia, Umbilical hernia, Scoliosis, Ves... OMIM:235510
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Joint Laxity, Short Stature, And Myopia
Iris coloboma, Retinal detachment, Chorioretinal coloboma OMIM:617662
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Coarse hair, Short neck, Enlarged kidney, Long eyelashes, Proteinuria, Bone marrow ... OMIM:617303
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Femoral hernia, Small bowel diverticula, Inguinal hernia, Colonic diverticula OMIM:223330
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... ORPHA:364055
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Inguinal hernia, Joint laxity, Hyperextensible skin, Hip dislocation, Excessive skin wrinkling on... OMIM:608763
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Umbilical hernia OMIM:617174
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Osteopenia, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 ... OMIM:618000
Dubowitz Syndrome
High palate, Craniosynostosis, Rectal prolapse, Sandal gap, Sparse lateral eyebrow, Sacral dimple... ORPHA:235
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, High palate, Hypertrichosis, Hepatomegaly, Steatorrhea, Coarse hair, Curly hair, ... OMIM:618268
Schimke Immunoosseous Dysplasia
Osteopenia, Coarse hair, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, ... OMIM:242900
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Sparse scalp hair, Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Patchy alopeci... OMIM:613573
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Stercoral ulcer, Hematochezia ORPHA:209964
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment OMIM:157151
Autosomal Dominant Spastic Paraplegia Type 29
Hernia, Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Sparse hair, Brittle hair, Arachnodactyly, Camptodactyly of finger, Coarse hair, Scolio... ORPHA:1883
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Macs Syndrome
High palate, Sparse hair, Sparse eyebrow, Alopecia, Hypergonadotropic hypogonadism, Soft skin, Cu... OMIM:613075
Autosomal Recessive Cutis Laxa Type 2, Classic Type
High palate, Decreased muscle mass, Sparse hair, Inguinal hernia, Generalized joint laxity, Exces... ORPHA:357074
Megalocornea
Iridodonesis, Iris transillumination defect, Retinal detachment OMIM:309300
Rin2 Syndrome
High palate, Sparse scalp hair, Hirsutism, Hypergonadotropic hypogonadism, Redundant skin, Brachy... ORPHA:217335
Hyperekplexia 4
High palate, Inguinal hernia, Flexion contracture, Camptodactyly, Distal arthrogryposis, Umbilica... OMIM:618011
Widow'S Peak Syndrome
Kyphosis, Inguinal hernia, High iliac wing, Arthralgia of the hip, Hip osteoarthritis, Shawl scro... OMIM:314570
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Gastroschisis ORPHA:2476
Occipital Horn Syndrome
High palate, Hiatus hernia, Coarse hair, Ureteral obstruction, Platyspondyly, Genu valgum, Broad ... OMIM:304150
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Short distal phalanx of finger, Generalized hirsutism, Thick... ORPHA:2963
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Schwartz-Jampel Syndrome, Type 1
High palate, Quadriceps muscle weakness, Congenital hip dislocation, Short neck, Platyspondyly, L... OMIM:255800
Winchester Syndrome
Broad metacarpals, Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Gen... OMIM:277950
Lateral Meningocele Syndrome
High palate, Kyphosis, Sclerosis of skull base, Inguinal hernia, Coarse hair, Short neck, Biconca... OMIM:130720
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Advanced ossification of carpal bones, Irregular vertebral endplate... OMIM:618363
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Sialidosis Type 2
Kyphosis, Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Nephropathy, Osteopor... ORPHA:87876
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
N-Acetylaspartate Deficiency
Inguinal hernia OMIM:614063
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Flexion contracture, Micropenis, Inguinal hernia, Hypospadias, Facia... OMIM:301830
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyebrow, Osteoporosis, Male hypogonadism, Absent eyelashes, Nail dystrophy, T... OMIM:618625
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Inguinal hernia, Finger clinodactyly, Osteoporosis, Supernumerary ribs, Cryptorchidism, Coxa valga ORPHA:2958
Monosomy 5P
High palate, Recurrent fractures, Inguinal hernia, Small hand, Short neck, Scoliosis, Abnormality... ORPHA:281
Omphalocele
Omphalocele ORPHA:660
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Inguinal hernia, Adducted thumb, Cutis laxa, Congenital hip dislocation, Scoliosis, ... OMIM:219150
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment OMIM:127200
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Prieto Syndrome
Inguinal hernia, 11 pairs of ribs, Osteoporosis, Clinodactyly, Radial deviation of finger, Crypto... OMIM:309610
Mucolipidosis Type Iii
Joint stiffness, Large iliac wing, Cleft palate, Inguinal hernia, Reduced bone mineral density, A... ORPHA:577
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Flexion contracture, Inguinal hernia, Excessive wrinkled skin, Osteopenia, Cutis lax... OMIM:614438
Scarf Syndrome
Diastasis recti, Low anterior hairline, Short sternum, Sparse hair, Inguinal hernia, Micropenis, ... OMIM:312830
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Umbilical hernia ORPHA:1373
Acrofacial Dysostosis, Catania Type
Clinodactyly of the 5th finger, Inguinal hernia, Small hand, Hypospadias, Coarse hair, Abnormal h... ORPHA:1786
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Generalized hirsutism, Inguinal hernia, Abnormal hip bone morphology, Hypospadias, Abnormal hair ... ORPHA:2508
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Cryptorchidism, Sparse hair, Inguinal hernia ORPHA:1174
Fetal Hydantoin Syndrome
Short distal phalanx of finger, Cleft palate, Bifid scrotum, Coarse hair, Triphalangeal thumb, He... ORPHA:1912
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Inguinal hernia, Sparse axillary hair, Male pseudohermaphroditism, Abs... ORPHA:754
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Coffin-Lowry Syndrome
High palate, Drumstick terminal phalanges, Coarse hair, Tapered finger, Rectal prolapse, Thick ey... OMIM:303600
Hall-Riggs Syndrome
Joint stiffness, Coarse hair, Platyspondyly, Brachydactyly, Scoliosis, Abnormal epiphysis morphol... ORPHA:2107
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Alopecia, Hypergonadotropic hypogonadism, Micropenis, Woolly scalp hair, Decreased t... OMIM:601217
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Aminopterin Syndrome Sine Aminopterin
High palate, Thoracic scoliosis, Joint contracture of the hand, Cleft palate, Inguinal hernia, Ar... OMIM:600325
Mucopolysaccharidosis Type 3
Hepatomegaly, Coarse hair, Heparan sulfate excretion in urine, Genu valgum, Mucopolysacchariduria... ORPHA:581
Antiphospholipid Syndrome, Familial
Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Vitritis OMIM:107320
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Blue Rubber Bleb Nevus
Volvulus, Intestinal bleeding, Rectal prolapse, Intussusception OMIM:112200
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Hepatomegaly, Elevated circulating a... OMIM:614727
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Multiple lipomas, Osteoporosis, Skeletal muscle atrophy, Limitation of j... ORPHA:3294
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Pallor, Platyspondyly, Hypopigmentation of hair, Osteoporosis, Albinism ORPHA:2786
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Flynn-Aird Syndrome
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Alopecia, Osteoporosis, Increase... OMIM:136300
Spinocerebellar Ataxia-Dysmorphism Syndrome
Reduced bone mineral density, Coarse hair, Spina bifida occulta, Slender long bone, Hyperextensib... ORPHA:1185
Rudiger Syndrome
Bicornuate uterus, Inguinal hernia, Flexion contracture, Micropenis, Ovarian cyst, Ureterovesical... OMIM:268650
Weaver Syndrome
Hydrocele testis, Sparse hair, Prominent fingertip pads, Short fourth metatarsal, Flared humeral ... OMIM:277590
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Low anterior hairline, Primary amenorrhea, Short neck, Osteoporosis, Scoliosis, Joint laxity, Dor... OMIM:616033
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm OMIM:615113
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Pili torti, Abnormality of finger, Sparse hair, Sparse eyebrow, Coarse hair, S... ORPHA:113
Lambert Syndrome
Inguinal hernia OMIM:245550
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Carpal synostosis, Advanced ossification of carpal bones, Epiphyseal dysplasia, Kyphoscoliosis, S... OMIM:615349
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Hepatomegaly, Flexion contracture, Lack of skin elasticity, Scoliosis, Osteoporosis, Li... OMIM:615381
Chops Syndrome
Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, High, narrow palate, Thick eyebrow, Spl... OMIM:616368
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis OMIM:615269
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporosis, Myopathy OMIM:618234
Greig Cephalopolysyndactyly Syndrome
Hirsutism, Abnormal muscle fiber morphology, Joint contracture of the hand, Inguinal hernia, Cran... OMIM:175700
Familial Hyperprolactinemia
Amenorrhea, Infertility, Osteopenia, Oligomenorrhea, Menorrhagia, Osteoporosis, Hemorrhagic ovari... ORPHA:397685
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Osteoporo... ORPHA:48431
Ganglioneuroma
Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Colorectal polyposis, Gastroin... ORPHA:251992
Bazex Syndrome
Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Furrowed tongue, Joint hypermobility,... OMIM:301845
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Cutis laxa, Hypospadias, Elevated... OMIM:301045
Noonan Syndrome
High palate, Clinodactyly of the 5th finger, Hepatomegaly, Abnormal hair quantity, Hypogonadotrop... ORPHA:648
Glycosylphosphatidylinositol Biosynthesis Defect 25
Ankle flexion contracture, Sparse hair, Coarse hair OMIM:619985
Warburg Micro Syndrome 1
Overlapping toe, Hypertrichosis, Kyphoscoliosis, External genital hypoplasia, Facial hypertrichos... OMIM:600118
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Cleft palate, Inguinal hernia, Redundant skin, Joint hyperflexibility, Abnorma... ORPHA:1252
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
C Syndrome
High palate, Dislocated radial head, Renal cortical cysts, Hepatomegaly, Cutis laxa, Scoliosis, F... OMIM:211750
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Lenz-Majewski Hyperostotic Dwarfism
Chordee, Sparse hair, Proximal symphalangism of hands, Inguinal hernia, Hyperextensibility of the... OMIM:151050
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, El... ORPHA:79301
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Interosseus muscle atrophy, Fiber type grouping, Thenar muscle atrophy, Prematur... OMIM:619903
Isolated Glycerol Kinase Deficiency
Scoliosis, Osteoporosis, Hyperlordosis, Cryptorchidism, Myopathy ORPHA:408
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Osteopenia, Alopecia, Pr... ORPHA:2232
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... OMIM:174900
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Alpha-Mannosidosis
Kyphosis, Narrow palate, Hepatomegaly, Macroglossia, Splenomegaly, Inguinal hernia, Short neck, S... ORPHA:61
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hypog... OMIM:235200
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finger, ... OMIM:612394
Anauxetic Dysplasia 3
Sparse scalp hair, Beaking of vertebral bodies, Metaphyseal cupping, Gastroesophageal reflux, Squ... OMIM:618853
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy ORPHA:250984
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Inguinal hernia, Sparse axillary hair, Absent facial hair, Eleva... OMIM:300068
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Werner Syndrome
Ovarian neoplasm, Lack of skin elasticity, Neoplasm of the small intestine, Lipodystrophy, Second... ORPHA:902
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Intussu... OMIM:175200
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Lipoatrophy, Abnormal hair quantity, Cryptorchidism, Red... ORPHA:2617
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Kyphoscoliosis, Methioninuria, Pancreatitis, Brittle hair, Inguinal hernia, Arachnod... OMIM:236200
Vogt-Koyanagi-Harada Disease
Poliosis, Retinal detachment, Vitiligo, Premature graying of hair, Hypopigmented skin patches ORPHA:3437
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Camptodactyly... ORPHA:3409
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Inguinal hernia... OMIM:616809
Facioscapulohumeral Muscular Dystrophy 1
Retinal telangiectasia, Exudative retinal detachment OMIM:158900
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Osteopenia, ... ORPHA:536471
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Alopecia, Coarse hair, Posterior pituitary hypoplasia, Postaxial hand polydactyly, ... ORPHA:75389
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Joint contracture of the hand, Inguinal hernia, Scoliosis, Joint contracture of the 5th... ORPHA:352490
Ogden Syndrome
Torticollis, High, narrow palate, Inguinal hernia, Cutis laxa, Aplasia/Hypoplasia of the eyebrow,... ORPHA:276432
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Excessive wrinkled skin, Osteopenia, Scarring, Joint stiffness, Osteomalacia, Scol... ORPHA:1901
Stickler Syndrome, Type Ii
Retinal detachment, Abnormal vitreous humor morphology OMIM:604841
Bladder Exstrophy
Inguinal hernia, Intestinal malrotation, Bladder exstrophy, Omphalocele, Abnormality of the anus,... ORPHA:93930
Leprechaunism
Reduced subcutaneous adipose tissue, Hypertrichosis, Hepatomegaly, Facial hypertrichosis, Hyperca... ORPHA:508
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Osteopenia, Fractures of t... ORPHA:319195
Arthrochalasia Ehlers-Danlos Syndrome
Joint stiffness, Coxa vara, Coxa valga, Inguinal hernia, Avascular necrosis of the capital femora... ORPHA:1899
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Aarskog-Scott Syndrome
Short palm, Clinodactyly of the 5th finger, Cryptorchidism, Cleft palate, Inguinal hernia, Abnorm... ORPHA:915
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Arachnodactyly, Platyspon... OMIM:614856
Rafiq Syndrome
Clinodactyly of the 5th finger, Joint hypermobility, Sparse eyebrow, Flexion contracture, Cutis l... OMIM:614202
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Norrie Disease
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Retinal fold, Leukocoria, Retinal dysp... OMIM:310600
Craniofrontonasal Dysplasia
High palate, Abnormality of hair texture, Craniosynostosis, Down-sloping shoulders, Sandal gap, W... ORPHA:1520
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Cleft palate, External genital hypoplasia, Symphalangism affecting the phalanges... ORPHA:2658
Cerebrofaciothoracic Dysplasia
Bifid ribs, Rib fusion, Vertebral segmentation defect, Thick eyebrow, Cleft palate, Hemivertebrae... ORPHA:1394
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Inguinal hernia OMIM:619602
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Donnai-Barrow Syndrome
Iris coloboma, Retinal detachment, Retinal dystrophy ORPHA:2143
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Inguinal hernia, Cleft palate, Micropenis, Multicystic kidney dysplasia, Congenital ... OMIM:300209
Incontinentia Pigmenti
Sparse hair, Alopecia, Hemivertebrae, Coarse hair, Breast aplasia, Onychogryposis, Scarring, Eryt... OMIM:308300
Orofaciodigital Syndrome Type 1
High palate, Exocrine pancreatic insufficiency, Sparse hair, Cleft palate, Alopecia, Coarse hair,... ORPHA:2750
Craniofaciofrontodigital Syndrome
Hypertrichosis, Low anterior hairline, Gastroesophageal reflux, Macroglossia, Finger joint hyperm... ORPHA:363705
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Developmental And Epileptic Encephalopathy 73
Inguinal hernia, Hip dysplasia, Flexion contracture, Scoliosis OMIM:618379
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux OMIM:619793
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Generalized joint laxity, Arachnodactyly, Soft skin, Palmoplantar cutis laxa, Sc... OMIM:130080
Stickler Syndrome Type 1
Retinal detachment, Abnormal vitreous humor morphology ORPHA:90653
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypertrichosis, Hepatomegaly, Inguinal hernia, Splenomegaly, Micropenis, Pulmonary l... ORPHA:1655
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Cleft palate, Osteopenia, Primary amenorrhea, Secondary amenorrhea, Increased female l... ORPHA:432
Multiple Sulfatase Deficiency
Joint stiffness, Hepatomegaly, Thick eyebrow, Splenomegaly, Coarse hair, Broad hallux phalanx, Br... ORPHA:585
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Gastroesophageal reflux, Inguinal hernia, Tracheomalacia, Cutis laxa, Pylor... OMIM:613177
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses OMIM:264010
48,Xxyy Syndrome
Infertility, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hypoplasia of penis, Cleft ... ORPHA:10
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Abnormality of the abdominal wall, Cleft palate, Craniosynostosis, Osteopenia, Metacarpophalangea... OMIM:245600
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Alopecia, Osteopenia, Hammertoe, Ventral hernia, Phalangeal dislocation, Sandal gap,... ORPHA:536532
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Overlapping toe, Hepatomegaly, Cryptorchidism, Cleft palate, Micropenis, Coronal ... ORPHA:83617
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dysplasia, Absent eyebrow, Cleft palate, Alopecia, Unilateral renal agenesis, Inguinal herni... OMIM:308205
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Coxa vara, Aplasia/Hypoplasia of the tibia, Inguinal h... ORPHA:1988
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Hepatomegaly, Anterior beaking of lumbar verte... OMIM:253000
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Congenital diaphragmatic hernia, Cleft palat... ORPHA:2311
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Musculocontractural Ehlers-Danlos Syndrome
High palate, Slender finger, Cleft palate, Craniosynostosis, Malrotation of small bowel, Tapered ... ORPHA:2953
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Osteoporosis, Hip subluxation, Hip dislocation, Skeletal muscle atrophy OMIM:256720
Zimmermann-Laband Syndrome 3
High palate, Hypertrichosis, Absent distal phalanx of the 2nd toe, Facial hypertrichosis, Long ey... OMIM:618658
Witkop Syndrome
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail OMIM:189500
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypertrichosis, Hepatomegaly, Cleft palate, Splenomegaly, Micropenis, Pulmonary lymp... OMIM:235255
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Hepatomegaly, Coxa valga, Inguinal h... OMIM:253010
Lowry-Maclean Syndrome
High, narrow palate, Cleft palate, Abnormality of the abdominal organs, Craniosynostosis, Osteope... ORPHA:2409
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hirsutism, Hepatomegaly, Spinal rigidity, Flexion contracture, Splenomegaly, Skeletal musc... OMIM:613327
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... ORPHA:2891
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Dyskeratosis Congenita
Hepatomegaly, Sparse hair, Alopecia, Hepatic failure, Tracheoesophageal fistula, Bone marrow hypo... ORPHA:1775
Menkes Disease
Metaphyseal spurs, Sparse hair, Brittle hair, Alopecia, Cutis laxa, Metaphyseal widening, Osteopo... OMIM:309400
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Craniosynostosis, Rocker bottom foot, Overlapping fingers, Postaxial hand polydacty... OMIM:301056
Hajdu-Cheney Syndrome
High palate, Short nail, Osteopenia, Foot acroosteolysis, Short neck, Biconcave vertebral bodies,... OMIM:102500
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Exudative retinopathy, Retinal detachment, Abnormal vitreous humor m... ORPHA:2788
Eec Syndrome
Cleft palate, Sparse eyebrow, Coarse hair, Thick eyebrow, Split hand, Nail pits, Vesicoureteral r... ORPHA:1896
Classical Ehlers-Danlos Syndrome
Hiatus hernia, Osteopenia, Phalangeal dislocation, Rectal prolapse, Umbilical hernia, Cigarette-p... ORPHA:287
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... OMIM:309350
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Coffin-Siris Syndrome 2
High palate, Sparse scalp hair, Hirsutism, Low anterior hairline, Thick eyebrow, Short distal pha... OMIM:614607
Omphalocele, X-Linked
Omphalocele OMIM:310980
Williams Syndrome
Cholelithiasis, Osteopenia, Tracheoesophageal fistula, Down-sloping shoulders, Radioulnar synosto... ORPHA:904
Popov-Chang syndrome
Clinodactyly of the 5th finger, Gastroesophageal reflux, Lymphopenia, Small hand, Coarse hair, Sc... OMIM:618428
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Inguinal hernia, Cleft palate, Narrow greater sciatic notch,... OMIM:184250
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Sparse axillary hair, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea,... OMIM:146110
Shashi-Pena Syndrome
Kyphosis, Highly arched eyebrow, Osteoporosis, Scoliosis OMIM:617190
Whistling Face Syndrome, Recessive Form
High palate, Kyphoscoliosis, Inguinal hernia, Short neck, Camptodactyly, Ulnar deviation of finge... OMIM:277720
Bohring-Opitz Syndrome
Hypertrichosis, Tapered finger, Sacral dimple, Flexion contracture, Bilateral cleft palate, Vesic... OMIM:605039
17P13.3 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Inguinal hernia, Congenital hip... ORPHA:217385
Craniolenticulosutural Dysplasia
High palate, Gastroesophageal reflux, Sparse hair, Cleft palate, Brittle hair, Osteopenia, Coarse... OMIM:607812
X-Linked Intellectual Disability, Cabezas Type
High palate, Kyphosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Inguinal hernia, Smal... ORPHA:85293
De Barsy Syndrome
High palate, Coxa vara, Kyphoscoliosis, Sparse hair, Inguinal hernia, Generalized joint laxity, A... ORPHA:2962
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Clinodactyly of the 5th finger, Thick eyebrow, Inguinal hernia, Scoliosis, Arthrogrypos... OMIM:615834
Costello Syndrome
Hypoplastic toenails, Narrow palate, Gastroesophageal reflux, Woolly hair, Macroglossia, Lack of ... ORPHA:3071
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Re... ORPHA:424016
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Inguinal hernia, Small hand, Scoliosis, Short phalanx of finger, Limite... OMIM:180870
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Retinal detachment OMIM:615145
Fontaine Progeroid Syndrome
Absent nipple, Reduced subcutaneous adipose tissue, Hypertrichosis, Craniosynostosis, Coarse hair... OMIM:612289
Isolated Splenogonadal Fusion
Hydrocele testis, Inguinal hernia, Abnormal penis morphology, Abnormality of the scrotum, Unilate... ORPHA:457083
Cantu Syndrome
Congenital hypertrophy of left ventricle, Broad first metatarsal, Congenital, generalized hypertr... OMIM:239850
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Ehlers-Danlos Syndrome, Classic Type, 2
Joint hypermobility, Soft, doughy skin, Generalized joint laxity, Soft skin, Congenital hip dislo... OMIM:130010
Focal Facial Dermal Dysplasia Type Iii
Anal atresia, Sparse hair, Redundant skin, Abnormal hair pattern, Sparse lower eyelashes, Distich... ORPHA:1807
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Cutis laxa, Short neck, Brachydactyly, Syndactyly, Sandal gap, Fine hair OMIM:614800
Aarskog-Scott Syndrome
Testicular atrophy, Cleft palate, Short neck, Widow's peak, Shawl scrotum, Bilateral cryptorchidi... OMIM:305400
3-Methylglutaconic Aciduria, Type Iv
Inguinal hernia OMIM:250951
Radiation Proctitis
Rectal fistula, Abnormal gastrointestinal vascular morphology, Abnormal rectum morphology, Hemato... ORPHA:70475
Hurler Syndrome
Hepatomegaly, Calvarial hyperostosis, Short neck, Heparan sulfate excretion in urine, Hypoplasia ... OMIM:607014
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Inguinal hernia, Umbilical hernia OMIM:613544
Rahman Syndrome
Kyphoscoliosis, Cryptorchidism, Redundant skin, Camptodactyly, High anterior hairline OMIM:617537
Hurler-Scheie Syndrome
Joint stiffness, Hirsutism, Kyphosis, Hepatomegaly, Inguinal hernia, Splenomegaly, Contracture of... OMIM:607015
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia OMIM:609141
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Galloway-Mowat Syndrome 9
Gastroesophageal reflux, Hiatus hernia, Diffuse mesangial sclerosis, Coarse hair, Focal segmental... OMIM:619603
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Osteopenia, Cirrhosis, Hepatocellular carcinoma... ORPHA:369
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula, Omphalocele OMIM:258320
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Hypogonadism,... ORPHA:96170
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, High, narrow palate, Inguinal he... ORPHA:2849
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Persistent Müllerian Duct Syndrome
Inguinal hernia ORPHA:2856
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment OMIM:615181
Ruvalcaba Syndrome
Kyphosis, Generalized hirsutism, Clinodactyly of the 5th finger, Inguinal hernia, Small hand, Con... ORPHA:3121
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephronophthisis, ... OMIM:266920
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Williams-Beuren Syndrome
Osteopenia, Down-sloping shoulders, Radioulnar synostosis, Rectal prolapse, Umbilical hernia, Col... OMIM:194050
Hypergonadotropic Hypogonadism-Cataract Syndrome