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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
preweaning lethality, incomplete penetrance Efemp1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
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.

Adult LacZ

LacZ Images Section

89 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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X-ray

XRay Images Hind Leg and Hip

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

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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
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Gastroschisis
Gastroschisis, Intestinal atresia ORPHA:2368
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane OMIM:620253
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Congenital Glaucoma
Retinal detachment ORPHA:98976
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Lynch Syndrome 2
Colon cancer OMIM:609310
Lynch Syndrome 1
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm... ORPHA:401911
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urin... OMIM:252900
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Polydactyly-Myopia Syndrome
Inguinal hernia, Femoral hernia ORPHA:2917
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Ectopia Lentis Et Pupillae
Retinal detachment, Ectopia pupillae, Iris transillumination defect, Persistent pupillary membrane OMIM:225200
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia, Iris coloboma OMIM:610202
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine... OMIM:252930
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia OMIM:261550
Weaver Syndrome
Deep-set nails, Finger syndactyly, Inguinal hernia, Hypoplasia of penis, Sandal gap, Redundant sk... ORPHA:3447
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia, Aganglionic megacolon, Anal atresia OMIM:235760
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... ORPHA:424019
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Trisomy 20P
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced bone mineral de... ORPHA:261318
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Intellectual Disability, Wolff Type
Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Limitation of joint mobili... ORPHA:3080
Rhiny
Inguinal hernia OMIM:180360
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Scarf Syndrome
Bifid scrotum, Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck, Cryptorchidism, He... ORPHA:3134
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma ORPHA:1473
Peutz-Jeghers Syndrome
Melanonychia, Abnormality of the gastrointestinal tract, Neoplasm of the colon, Gastrointestinal ... ORPHA:2869
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Sparse scalp hair, Skeletal muscle atrophy, Osteopenia, Sparse eyelashes, Arachnodactyl... ORPHA:75496
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Coarse hair, Hyperextensible skin, Gas... ORPHA:198
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Brittle hair, Congenital hip dislocation, Redundant skin, Lipodystrophy, Abnorma... OMIM:219200
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Familial Articular Hypermobility Syndrome
Inguinal hernia ORPHA:2295
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Coarse hair, Narrow greater sciatic notch, Anter... OMIM:253220
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, ... OMIM:252920
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Gastroesophageal reflux, Hernia ORPHA:75497
Desmoid Disease, Hereditary
Colorectal polyposis, Colon cancer, Desmoid tumors OMIM:135290
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral b... OMIM:619451
Colonic Atresia
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia ORPHA:1198
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Abnormal hair pa... ORPHA:35173
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Penile freckling, Splenomegaly, Cutis laxa, Hydrocele testis, Coarse ... OMIM:605309
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Ehlers-Danlos Syndrome, Periodontal Type, 2
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, Colon cancer OMIM:617174
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Low anterior hairline, Coarse hair, Hernia, Decreased skull os... ORPHA:955
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Hypopla... OMIM:235510
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma OMIM:212550
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... OMIM:252940
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Redundant skin, Short neck, Osteoarthritis, Generalized joint lax... OMIM:618000
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Iris coloboma, Chorioretinal coloboma OMIM:617662
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Uveal Melanoma
Retinal detachment, Iris melanoma, Abnormal fundus morphology, Vitreous hemorrhage, Ciliary body ... ORPHA:39044
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Coffin-Siris Syndrome 8
Sparse scalp hair, Inguinal hernia, Cryptorchidism, Long eyelashes, Scoliosis, Thick eyebrow, Hyp... OMIM:618362
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Mucopolysaccharidosis-Plus Syndrome
Short neck, Synophrys, Metaphyseal widening, Low anterior hairline, Flexion contracture, Leukopen... OMIM:617303
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Hypopl... ORPHA:235
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hy... OMIM:615542
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Thorac... OMIM:242900
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Inguinal hernia, Neurogenic bladder, Short neck, Kyphosi... OMIM:130720
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla... OMIM:613573
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Bowing of the legs, Short... OMIM:255800
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hernia, Hiatus hernia ORPHA:101009
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Arachnodactyly, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture o... ORPHA:1883
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, High palate OMIM:300209
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Supernumerary ribs ORPHA:2958
Megalocornea
Iridodonesis, Retinal detachment, Iris transillumination defect OMIM:309300
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Redundant neck skin, Congenital hip dislocation, Redundant skin, Thick hai... ORPHA:357074
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Inguinal hernia, Pyloric stenosis, Cryptorchidism, Flexion contracture, Hip dislocati... OMIM:614438
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Inguinal hernia, Hypospadias, Abnormal hair pattern, Cryptorchidism, Small han... ORPHA:1786
Prieto Syndrome
11 pairs of ribs, Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Radial deviation of ... OMIM:309610
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Macs Syndrome
Joint laxity, Alopecia, Hypergonadotropic hypogonadism, Redundant skin, Sparse eyebrow, Cryptorch... OMIM:613075
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Redundant skin, Abnormal hair mor... ORPHA:2963
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly, Umbilica... OMIM:618011
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteoporosis, Broad m... OMIM:277950
Fetal Hydantoin Syndrome
Bifid scrotum, Hypoplastic fingernail, Cryptorchidism, Cleft palate, Low posterior hairline, Coar... ORPHA:1912
Sialidosis Type 2
Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Kyphosis, Splenomegaly, Flexion contractu... ORPHA:87876
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Congenital hip dislocation, Cryptorchidism, Hip dislocation, Cutis laxa, Distal ... OMIM:219150
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair ORPHA:1174
Scarf Syndrome
Bifid scrotum, Inguinal hernia, Diastasis recti, Short neck, Cryptorchidism, Low anterior hairlin... OMIM:312830
Rin2 Syndrome
Sparse scalp hair, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Redundant ski... ORPHA:217335
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Spinal Muscular Atrophy, X-Linked 2
Inguinal hernia, Multiple joint contractures, Hypospadias, Spinal muscular atrophy, Facial palsy,... OMIM:301830
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer ORPHA:209964
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Lipodystrophy, Down-sloping shoulders, Elbow fl... OMIM:616200
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Occipital Horn Syndrome
Redundant skin, Coarse hair, Hyperextensible skin, High palate, Broad ribs, Joint laxity, Pelvic ... OMIM:304150
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Osteoporosis, Nail ... OMIM:618625
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Monosomy 5P
Finger syndactyly, Inguinal hernia, Recurrent fractures, Short neck, Small hand, Joint hyperflexi... ORPHA:281
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Omphalocele
Omphalocele ORPHA:660
Mucolipidosis Type Iii
Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Joint stiffness, Cleft palate, Abnorma... ORPHA:577
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Thoracic... OMIM:600325
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Osteopenia, Sandal gap, R... OMIM:613177
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia ORPHA:1373
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Dorsocervical fat pad, Short neck, Low anterior hairline, Osteoporosis, Primary ame... OMIM:616033
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Hall-Riggs Syndrome
Slow-growing hair, Thick hair, Abnormal dental enamel morphology, Joint stiffness, Coarse hair, P... ORPHA:2107
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Inguinal hernia, Hypospadias, Abnormal hair pattern, Abnormal hip bone morphology, Scoliosis, Gen... ORPHA:2508
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Inguinal hernia, Broad hallux, Hypospadias, 1-3 toe syndactyly, Abnormal mu... OMIM:175700
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Hyperextensible skin, Sparse hair, Joint contracture, Joint laxity, Increased suscept... OMIM:615349
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Mucopolysaccharidosis Type 3
Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies, Reduced bone ... ORPHA:581
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Trichohepatoneurodevelopmental Syndrome
Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Bilateral coxa valga, Clinodactyly ... OMIM:618268
Warburg Micro Syndrome 1
Overlapping toe, External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Osteoporosis, Facia... OMIM:600118
Chops Syndrome
Curly hair, Thick hair, Tracheomalacia, High, narrow palate, Synophrys, Cryptorchidism, Splenomeg... OMIM:616368
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Elevated circulating asp... OMIM:614727
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Inguinal hernia, Redundant skin, Abnormal eyelash morphology, Cryptorchidism, ... ORPHA:1252
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger, Limitation of joint mobility, Osteoporosis, Mul... ORPHA:3294
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Antiphospholipid Syndrome, Familial
Retinal detachment, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Iritis OMIM:107320
Flynn-Aird Syndrome
Alopecia, Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increase... OMIM:136300
Spinocerebellar Ataxia-Dysmorphism Syndrome
Reduced bone mineral density, Slender long bone, Coarse hair, Hyperextensible skin, Joint hyperfl... ORPHA:1185
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Isolated Glycerol Kinase Deficiency
Hyperlordosis, Cryptorchidism, Osteoporosis, Myopathy, Scoliosis ORPHA:408
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Pallor ORPHA:2786
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Lipody... OMIM:615381
C Syndrome
Omphalocele, Hepatomegaly, Short metacarpal, Toe syndactyly, Fused sternal ossification centers, ... OMIM:211750
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Sh... OMIM:618392
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Abnormal finger morphology, Sparse or absent eyelashes, Coarse... ORPHA:113
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Rudiger Syndrome
Inguinal hernia, Ureterovesical stenosis, Flexion contracture, Ovarian cyst, Bicornuate uterus, M... OMIM:268650
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Lambert Syndrome
Inguinal hernia OMIM:245550
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Clubbing, Multiple gastric polyps, Bi... OMIM:175200
N-Acetylaspartate Deficiency
Inguinal hernia OMIM:614063
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2... OMIM:612394
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Osteoporo... ORPHA:48431
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Zimmermann-Laband Syndrome 3
Synophrys, Flexion contracture, Low anterior hairline, High palate, Triphalangeal thumb, Bifid uv... OMIM:618658
Noonan Syndrome
Abnormal hair quantity, Hepatomegaly, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality ... ORPHA:648
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis OMIM:615269
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Lipoatrophy, Kyphosis, Cryptorchidism, Dry skin, Low posterior hairline, ... ORPHA:2617
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Highly... OMIM:303600
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Splenomegal... OMIM:235200
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Ankle flexion contracture OMIM:619985
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Sparse facial hair, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of ... ORPHA:2232
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Bazex-Dupre-Christol Syndrome
Joint hypermobility, Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Tr... OMIM:301845
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Ogden Syndrome
Torticollis, Inguinal hernia, Broad hallux, High, narrow palate, Cryptorchidism, Fine hair, Cutis... ORPHA:276432
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... OMIM:301045
Aarskog-Scott Syndrome
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Short neck, Cryptorchidism, Small ha... ORPHA:915
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Sparse scalp hair, Short metacarpal, Thoracolumbar kyphoscoliosis, J... OMIM:618853
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Thenar muscle atrophy, Premature graying of hair, Distal lower limb muscle weakn... OMIM:619903
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Highly arched eyebrow, Kyphosis, Cryptorchidism, Congenital contracture, Umbilic... ORPHA:352490
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Flexion contracture, Abnormal fing... ORPHA:536471
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Coxa vara, Hyperextensible skin, Gastroesophageal reflux, Hernia, Abnormality of subc... ORPHA:1901
Vogt-Koyanagi-Harada Disease
Retinal detachment, Poliosis, Hypopigmented skin patches, Premature graying of hair, Vitiligo ORPHA:3437
Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Increased bone mineral d... ORPHA:902
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Arachnodactyly, Homocystinuria, Kyphoscoliosis, Methioninuria, Lim... OMIM:236200
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy ORPHA:250984
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Cryptorchidism, Postaxial hand po... ORPHA:1655
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, Inguinal hernia, Umbilical hernia, High palate OMIM:616025
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Postaxial hand polydactyly, Abnormality of the anterior pituitary, Renal ... ORPHA:75389
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Gastroschisis, Cleft palate ORPHA:2476
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, High palate, Scoliosis, Joint contracture, Lower limb muscle w... OMIM:611225
Alpha-Mannosidosis
Hepatomegaly, Bowing of the long bones, Inguinal hernia, Craniofacial hyperostosis, Short neck, K... ORPHA:61
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Facioscapulohumeral Muscular Dystrophy 1
Exudative retinal detachment, Retinal telangiectasia OMIM:158900
Norrie Disease
Retinal detachment, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Retinal... OMIM:310600
Stickler Syndrome, Type Ii
Retinal detachment, Abnormal vitreous humor morphology OMIM:604841
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Short neck, Synophrys, Rib fusion, Hemivertebrae, Cleft palate, Low poster... ORPHA:1394
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Onychauxis, Abnormal hair morphology, Fr... ORPHA:319195
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Iris coloboma ORPHA:2143
Androgen Insensitivity Syndrome
Inguinal hernia, Absent facial hair, Sparse axillary hair, Elevated circulating luteinizing hormo... OMIM:300068
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Ky... ORPHA:3409
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Inguinal hernia, Toe syndactyly, Necrotizing enterocolitis, Short ne... OMIM:616809
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Brittle hair, Cryptorchidism, Posterior wedging of vertebral bodies, Hi... OMIM:607812
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, High palate, Clinodactyly of the 5th finger, Finger syndactyly, ... ORPHA:1520
Rafiq Syndrome
Joint laxity, Joint hypermobility, Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Short ne... OMIM:614202
Incontinentia Pigmenti
Ridged nail, Hemivertebrae, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia... OMIM:308300
Orofaciodigital Syndrome Type 1
Brittle hair, Reduced bone mineral density, Lobulated tongue, Coarse hair, High palate, Clinodact... ORPHA:2750
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Lenz-Majewski Hyperostotic Dwarfism
Redundant skin, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal finger mor... ORPHA:2658
Arthrochalasia Ehlers-Danlos Syndrome
Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Coxa valga, Av... ORPHA:1899
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Enlarged ovaries, Overgrowth of ext... ORPHA:508
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Leukopenia, Vesicoureteral reflux, Micropenis, Hepatomegaly, Hypospadias, Cr... OMIM:301056
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Biliary... ORPHA:83617
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Anorectal anomaly, Premature graying of hair, Sparse hair... ORPHA:1775
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Inguinal hernia, Sacral dimple, Short neck, Bilateral cryptorchidism, Low anterior ... OMIM:613544
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Cryptorchidism, Abnormal sacrum morphology, Long penis, Abnormal ri... ORPHA:1988
Premature Ovarian Failure 2B
Osteoporosis, Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... OMIM:262000
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... ORPHA:2311
Stickler Syndrome Type 1
Retinal detachment, Abnormal vitreous humor morphology ORPHA:90653
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Redundant skin, Equinus calcaneus, Shoulde... ORPHA:536532
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Short neck, Shoulder dislocation, Hyperextensible sk... OMIM:245600
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Redundant skin, Cervical kyphosis, Generalized joint laxity, Functional ab... ORPHA:2953
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Coffin-Siris Syndrome 3
Joint laxity, Sparse scalp hair, Inguinal hernia, Central diaphragmatic hernia, Hirsutism, Short ... OMIM:614608
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Rahman Syndrome
Redundant skin, Kyphoscoliosis, Cryptorchidism, Camptodactyly, High anterior hairline OMIM:617537
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
48,Xxyy Syndrome
Inguinal hernia, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Craniosynostosis, Bila... ORPHA:2409
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Cutis laxa, Alopecia of scalp, Hy... ORPHA:2269
Multiple Sulfatase Deficiency
Broad hallux phalanx, Hepatomegaly, Joint stiffness, Splenomegaly, Coarse hair, Mucopolysaccharid... ORPHA:585
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Osteopenia, Joint laxity, Thick hair, Pyloric stenosis, Gastrointest... ORPHA:363705
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Kyphoscoliosis, Coxa valga, Hyperlordosis, Advanced ossificatio... OMIM:618363
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Thyroid lymphangiectasia, Cryptor... OMIM:235255
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Iris coloboma, Macular coloboma OMIM:615145
Developmental And Epileptic Encephalopathy 73
Hip dysplasia, Flexion contracture, Inguinal hernia, Scoliosis OMIM:618379
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Femoral bowing, Enuresis nocturna, Reduced bone mineral density, Limitat... OMIM:614856
De Barsy Syndrome
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Inguinal hernia, Lipodystrophy, Ky... ORPHA:2962
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux OMIM:619793
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi... OMIM:151050
Coffin-Siris Syndrome 2
Sparse scalp hair, Brachydactyly, Inguinal hernia, Sandal gap, Absent fifth fingernail, Cryptorch... OMIM:614607
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Prominent umbilicus, Osteopenia, Lipodystrophy, Cent... OMIM:613327
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, A... OMIM:253000
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Abnormal dental enamel morphology... ORPHA:3071
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Joint hyperflexibility, Pili torti, Apla... ORPHA:2891
Melnick-Needles Syndrome
Omphalocele, Short humerus, Hypoplastic scapulae, Ureteral stenosis, Anterior concavity of thorac... OMIM:309350
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Fontaine Progeroid Syndrome
Small scrotum, Redundant skin, Hypoplasia of the abdominal wall musculature, Synophrys, High, nar... OMIM:612289
Menkes Disease
Joint laxity, Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Cuti... OMIM:309400
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Exudative retinopathy, Abnormal vitreous humor morphology, Exudative vitreore... ORPHA:2788
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Metatarsus valgus, ... ORPHA:3082
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Ruvalcaba Syndrome
Short metacarpal, Inguinal hernia, Kyphosis, Cryptorchidism, Limited elbow extension, Small hand,... OMIM:180870
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, High, narrow palate, Cryptorc... ORPHA:2849
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Sialuria
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Long hallux, 2-3 toe syndactyly, Low post... OMIM:269921
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Hiatus hernia, Stage 5 chronic kidney disease, Focal segmental glome... OMIM:619603
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... ORPHA:1896
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Classical Ehlers-Danlos Syndrome
Osteopenia, Incisional hernia, Rectal prolapse, Osteoarthritis, Generalized joint laxity, Shoulde... ORPHA:287
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... ORPHA:424016
Ehlers-Danlos Syndrome, Classic Type, 2
Congenital hip dislocation, Joint hypermobility, Generalized joint laxity, Cigarette-paper scars,... OMIM:130010
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia OMIM:615181
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ... OMIM:184250
Williams Syndrome
Osteopenia, Hypoplasia of penis, Redundant skin, Hypoplastic toenails, Rectal prolapse, Abnormal ... ORPHA:904
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cryptorchidism, Flexion contracture, Elbow flexio... OMIM:214150
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Whistling Face Syndrome, Recessive Form
Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contract... OMIM:277720
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Kyphosis, Cryptorc... ORPHA:3121
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Abnormal hair pattern, Down... ORPHA:85293
Bohring-Opitz Syndrome
Flexion contracture, Low anterior hairline, Gastroesophageal reflux, Vesicoureteral reflux, Dislo... OMIM:605039
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Curly eyelashes, Short hallux, Coxa valga, Short neck, Meta... OMIM:239850
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
17P13.3 Microduplication Syndrome
Inguinal hernia, Congenital hip dislocation, Hypoplasia of penis, Short neck, High palate, Clinod... ORPHA:217385
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Short neck, Craniosynostosis, Cryptorchidis... OMIM:617506
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ... OMIM:305400
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Highly arched eyebrow, Kyphosis, Umbilical hernia, Scoliosis, Clinodactyly of th... OMIM:615834
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate ex... OMIM:607015
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Inguinal hernia OMIM:619602
Isolated Hemihyperplasia
Inguinal hernia ORPHA:2128
Gorlin-Chaudhry-Moss Syndrome
Low anterior hairline, Coarse hair, Abnormal metacarpal morphology, Umbilical hernia, Coronal cra... ORPHA:2095
3-Methylglutaconic Aciduria, Type Iv
Inguinal hernia OMIM:250951
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Renal cyst, High palate, Dislocated radial head, Joint laxity,... OMIM:102500
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Hepatomegaly, Hypoplasia of the fe... OMIM:607014
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Cholangitis, Short neck, Short metatarsal, Renal cyst, High pal... OMIM:266920
Williams-Beuren Syndrome
Osteopenia, Rectal prolapse, Flexion contracture, Premature graying of hair, Nephrocalcinosis, Ga... OMIM:194050
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Proteinuria, Osteoporosis, Portal fibros... ORPHA:369
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Os... ORPHA:2410
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s... OMIM:253010
Anti-Glomerular Basement Membrane Disease
Retinal detachment ORPHA:375
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Micropen... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, 2-3 toe syndactyly, Short foot, Coarse hair OMIM:616351
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Abnormal fingernail morphology, Abnormal dental enamel morpholo... ORPHA:1515
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Achondrogenesis Type 2
Retinal detachment, Abnormal vitreous humor morphology ORPHA:93296
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, D... ORPHA:79239
Catifa Syndrome
Inguinal hernia, Cleft palate, Camptodactyly OMIM:618761
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Abnormal sa... ORPHA:1807
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Osteoporosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis OMIM:618234
Persistent Müllerian Duct Syndrome
Inguinal hernia ORPHA:2856
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, B... ORPHA:2959
Marden-Walker Syndrome
Decreased muscle mass, Inguinal hernia, Arachnodactyly, Hypospadias, Short neck, High, narrow pal... OMIM:248700
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Retinal fold OMIM:152950
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Craniolenticulosutural Dysplasia
Brittle hair, Posterior wedging of vertebral bodies, High iliac wing, Joint hyperflexibility, Coa... ORPHA:50814
Emanuel Syndrome
Congenital hip dislocation, Multiple joint contractures, Redundant neck skin, Congenital diaphrag... ORPHA:96170
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Alopecia, Pancytopenia, Aplastic anemia, Avascular necrosis of the capital fe... OMIM:613990
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Clinodactyly, Joint hypermobility, Fragile nails, Fine hair ORPHA:500166
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Cryptorchidi... OMIM:618393
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Widow's peak, Shor... ORPHA:1974
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... ORPHA:100024
Perrault Syndrome 1
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonadal dysgenesis, H... OMIM:233400
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Gastroesophageal reflux, Generalized hirsutism, Hyperlordo... ORPHA:354
Opitz-Kaveggia Syndrome
Multiple joint contractures, Short neck, Anteriorly placed anus, Prominent fingertip pads, Sparse... OMIM:305450
Isolated Splenogonadal Fusion
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ... ORPHA:457083
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Clitoral... ORPHA:398069
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Inguinal hernia, High palate, Cleft palate ORPHA:1135
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Splenomegal... OMIM:230500
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Spondylo-Ocular Syndrome
Retinal detachment, Iris hypopigmentation ORPHA:85194
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Joint contracture of the hand, Camptodactyly OMIM:211960
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Decreased muscle mass, Redundan... OMIM:612940
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
48,Xxxy Syndrome
Inguinal hernia, Hypoplasia of penis, Small scrotum, Down-sloping shoulders, Abnormal dental enam... ORPHA:96263
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Diaphanospondylodysostosis
Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies... OMIM:608022
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Intestinal pseudo-obstruction, Short neck, Heparan sulfate excreti... OMIM:309900
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias... OMIM:300998
Cranioectodermal Dysplasia 2
Cholangitis, Short neck, Renal cyst, High palate, Sparse hair, Joint laxity, Syndactyly, Hepatome... OMIM:613610
Odontochondrodysplasia 1
Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short metacarpal, Os... OMIM:184260
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Cholangiocarcinoma, Hypogon... ORPHA:465508
Pachydermoperiostosis
Genu varum, Hepatomegaly, Abnormal fingernail morphology, Osteoporosis, Scoliosis, Anemia, Abnorm... ORPHA:2796
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Synophrys, Widow's peak, Sh... OMIM:620072
Cranioectodermal Dysplasia 3
Joint laxity, Sandal gap, Short nail, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... OMIM:614099
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Cleft palate, Genu valgum, Primary amenorrhea, Small pi... OMIM:614880
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, External genital hypoplasia, Short neck, Flexion contracture, Hemivertebrae,... ORPHA:96334
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, High, narrow palate, Sy... OMIM:122470
Suleiman-El-Hattab Syndrome
Inguinal hernia, Highly arched eyebrow, Cryptorchidism, Synophrys, Clinodactyly, Hirsutism, Polyd... OMIM:618950
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Osteoporosis, Abnormality of endocrin... ORPHA:79230
Man1B1-Cdg
Long eyebrows, Short neck, Sparse eyebrow, Abnormal position of hair whorl, 2-3 toe syndactyly, C... ORPHA:397941
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Low anterior hairline, Coxa vara, High palate, Wrist flexion... ORPHA:800
Lambert Syndrome
Inguinal hernia, Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Periodontal Ehlers-Danlos Syndrome
Joint hyperflexibility, Atrophic scars, Hyperextensible skin ORPHA:75392
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Geroderma Osteodysplastica
Beaking of vertebral bodies, Redundant skin, Recurrent fractures, Hip dislocation, Osteoporosis, ... ORPHA:2078
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... OMIM:156530
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Crandall Syndrome
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Pili torti, Abnormal testis... ORPHA:202
Fg Syndrome Type 1
Generalized joint laxity, High palate, Gastroesophageal reflux, Finger syndactyly, Hypospadias, M... ORPHA:93932
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microcytic anemia, Cutis laxa, Dysphagia, Dry skin, Hypertrichosis OMIM:612379
Fg Syndrome 3
Broad hallux, Pyloric stenosis, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, ... OMIM:300406
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Recurrent fract... OMIM:231070
Granulomatous Slack Skin
Redundant skin, Erythema, Abnormal lymph node morphology, Nephrocalcinosis, Cutis laxa, Acute kid... ORPHA:33111
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Metaphyseal widening, Sparse hair, Hepatomegaly, Thoracolumbar kyphosco... OMIM:252500
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Hepatic fibrosis, Hepatic... ORPHA:264580
Diastrophic Dysplasia
Proximal placement of thumb, Symphalangism affecting the phalanges of the hand, Abnormal form of ... ORPHA:628
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Global Developmental Delay With Speech And Behavioral Abnormalities
Inguinal hernia, Joint hypermobility, Supernumerary nipple, Precocious puberty, Cryptorchidism, A... OMIM:619243
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Nicolaides-Baraitser Syndrome
Alopecia, Sandal gap, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, High, narrow... ORPHA:3051
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Martsolf Syndrome 1
Thoracic scoliosis, Osteopathia striata, Low anterior hairline, High palate, Finger joint hypermo... OMIM:212720
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Symphalangism affecting the phalange... ORPHA:2990
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response... OMIM:176270
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Menkes Disease
Hyperextensible skin, Hernia, Sparse hair, Osteoporosis, Joint hyperflexibility, Umbilical hernia... ORPHA:565
Emanuel Syndrome
Inguinal hernia, Congenital hip dislocation, Torticollis, Intestinal malrotation, Congenital diap... OMIM:609029
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Oste... ORPHA:371428
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Focal Dermal Hypoplasia
Acute hepatic failure, Congenital diaphragmatic hernia, Gastroesophageal reflux, Hernia, Abnormal... ORPHA:2092
6P22 Microdeletion Syndrome
Finger syndactyly, Redundant skin, Short neck, Hernia, Clinodactyly, Hydronephrosis ORPHA:251046
Pili Torti, Early-Onset
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... OMIM:261900
Acrocallosal Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Postaxial hand pol... ORPHA:36
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Alg8-Cdg
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Abnormality of subcutan... ORPHA:79325
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Osteoporosis, Primary amenorrhea OMIM:233300
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, High, narrow... ORPHA:536516
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Dysp... OMIM:618323
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir... ORPHA:1159
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Osteopenia, Camptodactyly of finger, Osteomalacia, Mal... ORPHA:2176
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Hepatomegaly, Recurrent fractures, Splenomegaly, Thrombocytopenia, Osteo... OMIM:222700
Cystic Fibrosis
Elevated hepatic transaminase, Osteopenia, Absent vas deferens, Meconium ileus, Malabsorption, Re... ORPHA:586
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Nance-Horan Syndrome
Retinal detachment ORPHA:627
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... OMIM:251450
Neuraminidase Deficiency
Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Urinary excretion of sialylated oligosacc... OMIM:256550
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels OMIM:204000
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Osteoporosis, Thrombocytopenia OMIM:613606
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Chorioretinal atrophy, Iris c... OMIM:612109
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Retinal detachment, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ... ORPHA:2614
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Inguinal hernia, Hypospadias, Dysmenorrhea, Cryptorchidism, Cleft pala... ORPHA:397590
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Hyperextensible skin, Distal lower li... OMIM:619764
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment OMIM:613153
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Highly arched eyebrow, Slender finger, Synophrys, Cryptorchidism, Low anterior h... ORPHA:329224
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Osteopenia, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Progressive Pseudorheumatoid Dysplasia
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... OMIM:208230
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Short neck, Hyperextensible skin, High palate, Sparse hair, Dystrop... ORPHA:1340
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Striae distensae, Kyphosis, Pituitary adenoma, Osteoporosis, Nephrolithi... OMIM:219090
Bartsocas-Papas Syndrome 1
Short neck, Bilateral cryptorchidism, Ectopic kidney, Flexion contracture, Hypoplastic iliac wing... OMIM:263650
Van Maldergem Syndrome 2
Bifid scrotum, Osteopenia, Short fourth metatarsal, Clinodactyly, Anteriorly placed anus, Cutaneo... OMIM:615546
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger ORPHA:2787
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, High palate OMIM:314320
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Atrophic scars, Hyperextensible sk... ORPHA:300179
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment ORPHA:1856
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... ORPHA:3205
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Small hand, Hip dislocation, Short foot, Gastroesophageal reflux, Scoliosis, Hirsutism OMIM:300434
Bethlem Myopathy 2
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Myopathy, ... OMIM:616471
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Dysmenorrhea, Hepatocellula... ORPHA:79240
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... OMIM:234250
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Gastroesophageal reflux, Inguinal hernia, High palate, Cleft palate OMIM:618603
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Reduced bone mineral densit... ORPHA:79474
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Hyperconvex fingernails,... ORPHA:2215
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rect... OMIM:243150
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Short femur, Hyperparathyroidism, Metaphyseal spurs, Unilateral rena... OMIM:618188
Walker-Warburg Syndrome
Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abnormal optic ner... ORPHA:899
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short iliac... OMIM:614376
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Anisocoria OMIM:619649
Hamamy Syndrome
Osteopenia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Sparse hair, Abnormal... OMIM:611174
Cranioectodermal Dysplasia 4
Joint hypermobility, Sagittal craniosynostosis, Stage 5 chronic kidney disease, Cutis laxa, Hip d... OMIM:614378
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Inguinal hernia, Hypospadias, Diastasis recti, Short neck, Metatars... OMIM:123450
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... ORPHA:137834
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
3C Syndrome
Finger syndactyly, Inguinal hernia, Hypoplastic fingernail, Hypoplasia of penis, Intestinal malro... ORPHA:7
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Hepatom... OMIM:226980
Stiff Skin Syndrome
Retinal detachment ORPHA:2833
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Coxa valga, Long fin... OMIM:608149
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, High palate ORPHA:3369
Kniest Dysplasia
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Dumbbell-shape... OMIM:156550
Alg12-Cdg
Redundant skin, Proximal placement of thumb, Gastroesophageal reflux, Abnormal bone ossification,... ORPHA:79324
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Striae distensae, Dorsocervical fat pad, Pituitary ad... ORPHA:189427
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... OMIM:271640
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hyperc... OMIM:219700
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Increased number of sk... ORPHA:2505
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Mucopolysaccharidosis Type 1
Inguinal hernia, Abnormality of the tonsils, Malabsorption, Joint stiffness, Splenomegaly, Split ... ORPHA:579
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Cryptorchidism, Facial diplegi... OMIM:611890
D-Lactic Aciduria With Gout
Inguinal hernia OMIM:245450
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Knee flexion contracture, Epiphyseal stippling, Coarse hair, Scoliosis, Sparse hair OMIM:118650
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Redundant umbilical skin, Cleft soft palate... OMIM:614557
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Anorectal anomaly, Abnorm... ORPHA:1834
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Dermal translucency, Osteopenia, Joint laxity, Unilateral renal agenesis, Hip dis... OMIM:616603
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Absent eyebrow, Alopecia, Short metacarpal, Inguinal hernia, Craniosynostosis, Abs... ORPHA:166035
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Congenital muscular dy... ORPHA:1875
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... OMIM:619503
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Bifid scrotum, Inguinal hernia, Sparse eyelashes, Overlappin... OMIM:613026
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Inguinal hernia, Redundant skin, Short toe, Atrophic scars, Hyperextens... OMIM:225410
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers... OMIM:620351
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Osteoglosphonic Dysplasia
Inguinal hernia, Craniosynostosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scolios... ORPHA:2645
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Premature graying of hair, Intestinal bleeding, Sparse hair, Osteoporosis, Increased ... OMIM:612199
Arterial Tortuosity Syndrome
Joint laxity, Soft, doughy skin, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia... OMIM:208050
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Curly eyelashes, Short hallux, C... ORPHA:1517
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Furrowed tongue, Melena, Hematuria, Coarse hair, Nail dystrophy, Nail dys... OMIM:158310
Myoectodermal Gonadal Dysgenesis Syndrome
Clitoral hypoplasia, Cutaneous finger syndactyly, Scaling skin, Short palm, Accessory spleen, Hig... OMIM:618419
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Chronic gastritis, Bilateral cryptorchidism, Fragile nails, Rib exostoses, Gastroesop... OMIM:150230
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Syndromic Diarrhea
Villous atrophy, Brittle hair, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypoplasia of... ORPHA:84064
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Anterior wedging o... OMIM:253200
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Redundant neck skin, Brachydactyly, Sacral dimple, Short neck, Rectal prolapse,... OMIM:617157
Wrinkly Skin Syndrome
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Inguinal hernia, Lipodystrophy, Ky... ORPHA:2834
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Inguinal hernia, Hypoplastic toenails, Portal vein thrombosis, Hypersp... OMIM:616028
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Supernumerary... ORPHA:261349
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Short... ORPHA:93351
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Leukocoria, Retinal nonattachment, Posterior synechiae o... OMIM:221900
Cranioectodermal Dysplasia 1
High, narrow palate, Tubulointerstitial nephritis, High palate, Hepatic fibrosis, Sparse hair, Jo... OMIM:218330
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteoporosis, Cleft palate, Micropenis, Clinodactyly, Decreased te... OMIM:614838
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Short palm, Hepatomegaly, Hamartoma of tongue, ... OMIM:269860
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Inguinal hernia, Gastroesophageal reflux, Scoliosis ORPHA:485350
Cartilage-Hair Hypoplasia
Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Short palm, Sparse hair, Neu... OMIM:250250
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... OMIM:259450
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, External genital hypoplasia, Osteomalacia, Abnormal eyelash ... ORPHA:2671
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Nephrocalcinosis, Clitoral hypoplasia, Short palm, Thoracic hemiverteb... OMIM:268310
Hatipoglu Immunodeficiency Syndrome
Inguinal hernia, Pancytopenia, Hypospadias, Cryptorchidism, Hemivertebrae, Dry skin, Premature gr... OMIM:620331
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, White hair, F... ORPHA:935
Aldh18A1-Related De Barsy Syndrome
Joint hyperflexibility, Hyperextensible skin ORPHA:35664
2Q31.1 Microdeletion Syndrome
Short neck, Hypoplastic toenails, Synophrys, Abnormal tibia morphology, Low anterior hairline, Ve... ORPHA:251014
Arthrogryposis, Distal, Type 2A
Short neck, Knee flexion contracture, High palate, Hernia, Spina bifida occulta, Wrist flexion co... OMIM:193700
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Ab... ORPHA:666
Acrogeria
Lipoatrophy, Small hand, Skin ulcer, Fine hair, Short foot, Excessive wrinkled skin, Joint hyperf... ORPHA:2500
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Celiac disease, Abnormality of the ab... OMIM:212750
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Cryptorch... OMIM:301900
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:739
15Q24 Microdeletion Syndrome
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Proximal placem... ORPHA:94065
Cleidocranial Dysplasia
High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ... ORPHA:1452
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Pseudoaminopterin Syndrome
Limited elbow movement, Asplenia, High palate, Patchy reduction of bone mineral density, Synostos... ORPHA:221120
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Metaphyseal widening, Hyperextensible skin, High palate, Gastroesophageal reflux, Dis... OMIM:182212
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Kyphoscoliosis, Precocious puberty, Long fingers, Hip dislocation, Ost... ORPHA:447980
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Premature graying of hair, Anteriorly placed anus, High palate, Short... OMIM:268400
Recombinant 8 Syndrome
Small scrotum, Redundant skin, Camptodactyly of finger, Abnormal hair morphology, Cryptorchidism,... ORPHA:96167
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... ORPHA:373
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... ORPHA:157794
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Inguinal hernia, Tape... ORPHA:544488
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, Flexion contracture, Hip disloca... ORPHA:171719
Satoyoshi Syndrome
Short metacarpal, Alopecia, Malabsorption, Short metatarsal, Amenorrhea, Osteolytic defects of th... OMIM:600705
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Developmental And Epileptic Encephalopathy 95
Joint laxity, Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, ... OMIM:618143
Myhre Syndrome
External genital hypoplasia, Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal peni... ORPHA:2588
Prolactinoma
Osteopenia, Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fer... ORPHA:2965
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Supernumerar... ORPHA:1812
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Retinal detachment ORPHA:3218
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Osteoporosis, Camptodactyly... OMIM:616006
Juvenile Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Protruding tongue, Generalized hypertrichosis, Abnormal form of th... ORPHA:93399
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External geni... ORPHA:98754
Ogden Syndrome
Redundant neck skin, Congenital hip dislocation, Redundant skin, Short neck, Microvesicular hepat... OMIM:300855
Bladder Exstrophy And Epispadias Complex
Anteriorly placed anus, Inguinal hernia, Bladder exstrophy OMIM:600057
Mucopolysaccharidosis Type 7
Inguinal hernia, Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, S... ORPHA:584
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidi... OMIM:613390
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Osteoporosis, Abnormality of hair pigmentation, Corneal scarring, ... ORPHA:90354
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Proteus-Like Syndrome
Retinal detachment, Irregular hyperpigmentation, Heterochromia iridis, Abnormal pupil morphology ORPHA:2969
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... OMIM:615290
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Short neck, Hyperlordosis, High, narrow palate, Kypho... ORPHA:2789
Tonne-Kalscheuer Syndrome
Decreased testicular size, Hypospadias, Congenital diaphragmatic hernia, Concave nail, Cryptorchi... OMIM:300978
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Inguinal hernia, Sandal gap, Recurrent shoulder dislocation, Thoracolumbar scolios... ORPHA:230851
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Broad ribs, Joint laxity... OMIM:613848
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Ureteral duplication, Arachnodactyly, Abnormal dental... ORPHA:96169
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... ORPHA:1263
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Smith-Magenis Syndrome
Retinal detachment OMIM:182290
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Decreased muscle mass, Widened atrophic scar, Thoracic scoliosis, High, narrow palate... ORPHA:1900
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Redundant skin, Facial palsy, Sparse eyebrow, High, nar... OMIM:230740
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Esophageal stricture, Osteoporosis, Premature ... OMIM:613989
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Arachnodactyly, Premature ovarian insufficiency, Sparse pubic hair, Inc... ORPHA:243
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Osteoporosis OMIM:619971
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... ORPHA:98850
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Abnormal muscle fiber morphology, Short neck, Kyphosis, Spinal rigidity, F... ORPHA:75840
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Retinal detachment OMIM:609616
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rig... ORPHA:486815
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Inguinal hernia, Congenital finger flexion contractures ORPHA:1154
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Inguinal hernia, Short neck, Metatarsus adductus, Calcaneovalg... OMIM:616266
Ehlers-Danlos Syndrome, Classic-Like
Joint hypermobility, Unilateral renal agenesis, Hiatus hernia, Increased connective tissue, Ambig... OMIM:606408
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External geni... ORPHA:98793
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Kyphosis, Hirsutism ORPHA:85288
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, High palate, Scoliosis, Arthrogryposis... ORPHA:178148
Thanatophoric Dysplasia
Redundant skin, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexi... ORPHA:2655
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Schaaf-Yang Syndrome
Rocker bottom foot, Tapered finger, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Mi... OMIM:615547
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Glossoptosis, Abnorm... ORPHA:94068
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Donnai-Barrow Syndrome
Hypoplasia of the iris, Retinal detachment, Retinal dystrophy, Iris coloboma OMIM:222448
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External geni... ORPHA:177904
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Inguinal hernia, Increased vertebral height, Splenomegaly, Vacuolated lymphocytes, ... OMIM:248500
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short neck, Kyphosis, Biliary tract abnormality, Scoliosis, Synostosis of carpal... ORPHA:3191
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation, Cutis laxa OMIM:614100
Achondrogenesis
Inguinal hernia, Abnormal enchondral ossification, Short neck, Abnormality of bone mineral densit... ORPHA:932
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, Hyperextensible skin, High palate, Short phalanx of fi... OMIM:612350
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External geni... ORPHA:177901
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Primary amenorrhea, Micropenis, Decr... OMIM:610628
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis, Colo... ORPHA:90038
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal... OMIM:609945
Shashi-Pena Syndrome
Short metacarpal, Highly arched eyebrow, Unilateral renal agenesis, Kyphosis, Synophrys, Osteopor... OMIM:617190
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Hypopigmentation of the fundus ORPHA:163649
Ehlers-Danlos Syndrome, Periodontal Type, 1
Joint laxity, Inguinal hernia, Arachnodactyly, Hiatus hernia, Intestinal perforation, Generalized... OMIM:130080
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis OMIM:228600
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Sandal gap, Short neck, Hyposegmentation of neutrophil nuclei, Fine hai... OMIM:614800
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Hypospadias, Kyphosis, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, Gastro... OMIM:616449
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Cryptorchidism, Thrombocytopenia, Methylmalonic aciduria, Normochromic anemia, G... OMIM:614857
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Finger syndactyly, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nipple, Sub... ORPHA:1071
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Cutis laxa, T lymphocyt... OMIM:617237
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Inguinal hernia, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysplasia... ORPHA:544503
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... ORPHA:40
Ohdo Syndrome, X-Linked
Inguinal hernia, Small scrotum, Overlapping toe, Hiatus hernia, Sparse eyebrow, Short thumb, Clin... OMIM:300895
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Cleft palate, Fine hair, Joint h... ORPHA:251019
Chromosome 9P Deletion Syndrome
Long toe, Omphalocele, Inguinal hernia, Narrow nail, Sandal gap, Hyperconvex nail, Highly arched ... OMIM:158170
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... OMIM:257200
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Short neck, Absent external gen... OMIM:271520
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Broad long bones, Curly eyelashes, Abnormal metatarsal morphology, Short neck, Multip... ORPHA:163654
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Genu ... ORPHA:2983
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Male urethral meatus stenosis, Finger syndactyly, Hypospadias, Sparse eyebro... ORPHA:464738
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Renal insufficiency, Diastasis recti, Portal hypertension, Flexion contracture, ... ORPHA:440713
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, H... ORPHA:1507
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Gastroeso... ORPHA:2538
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Short toe, Cryptorchidism, Secondary ame... ORPHA:3085
Osteoporosis
Osteoporosis OMIM:166710
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Limited elbow movement, Joint stiffne... OMIM:614008
Diphallia
Bifid scrotum, Ureteral duplication, Epispadias, Hemivertebrae, Ectopic scrotum, Duplicated colon... ORPHA:227
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Kyphoscoliosis, Cervical spondylosis, Pseudobulbar paralysis, Alopecia of scalp, Local... ORPHA:199354
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Inguinal hernia, Redundant neck skin, Redundant skin, Unilateral renal ... ORPHA:90348
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, H... OMIM:613849
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Shprintzen-Goldberg Syndrome
Osteopenia, Bowing of the long bones, Inguinal hernia, Arachnodactyly, Camptodactyly of finger, C... ORPHA:2462
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Ambiguous genitalia, Redundant ... ORPHA:920
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Inguinal hernia, Flexion contracture, Submucous cleft hard palate, Epi... OMIM:222765
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Cryptorchidism, Flexion con... OMIM:618484
Achondrogenesis, Type Ib
Umbilical hernia, Inguinal hernia OMIM:600972
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Kyphoscolios... OMIM:309583
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Agel Amyloidosis
Tongue atrophy, Proteinuria, Facial palsy, Xerostomia, Stage 5 chronic kidney disease, Cutis laxa... ORPHA:85448
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Inguinal hernia, Recurrent fractures, Reduced bone mineral density, Hyperextensible skin, Scolios... OMIM:619115
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Prominent interphalangeal joints, High... OMIM:135900
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Skeletal muscle atrophy, Neurogenic bladder, Diastasis recti, Decrea... ORPHA:488632
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Joint laxity, Sandal gap, Hypospadias, Kyphosis, Cryptorchidism, Sm... OMIM:300354
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Synophrys, Shoulder dislocation,... ORPHA:536545
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Cryptorchidism, Fr... OMIM:619797
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypoparathyroidism, Hypopla... ORPHA:231226
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Cryptorchidism... OMIM:616817
Focal Dermal Hypoplasia
Ridged nail, Ureteral duplication, Brittle hair, Congenital hip dislocation, Congenital diaphragm... OMIM:305600
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Ectopic kidney, Gastrointestin... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Ectopic kidney, Gastrointestin... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Ectopic kidney, Gastrointestin... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Hypoplastic toenails, High, narrow palate, Ectopic kidney, Gastrointestin... ORPHA:881
Stuve-Wiedemann Syndrome 1
Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue, Sparse hair, ... OMIM:601559
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Short neck, High, narrow palate, Epispadias, Hemivertebrae, Coxa vara, Abnor... ORPHA:3107
Estrogen Resistance Syndrome
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Delayed epiphyseal ossifi... ORPHA:785
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal cyst, High palate, Hepatic fibrosis, Sparse hair, Syndactyly, Hypospadias, Renal hypoplasia... OMIM:614091
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... OMIM:213980
Cutis Laxa, Autosomal Recessive, Type Ia
Joint laxity, Inguinal hernia, Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, C... OMIM:219100
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Satoyoshi Syndrome
Tapered finger, Abnormal hair morphology, Abnormality of the humerus, Hyperlordosis, Abnormal fem... ORPHA:3130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... ORPHA:280
Wrinkly Skin Syndrome
Osteopenia, Scapular winging, Congenital hip dislocation, Inguinal hernia, Short nail, Redundant ... OMIM:278250
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Multicystic kidney dysplasia, Renal... ORPHA:1454
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Inguinal hernia OMIM:613970
Trichorhinophalangeal Syndrome Type 2
Sparse scalp hair, Redundant skin, Avascular necrosis of the capital femoral epiphysis, Cone-shap... ORPHA:502
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Redundant skin, Kyphoscoliosis, Bilateral c... OMIM:617403
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Sacral dimple, Kyphosis, Umbilical hernia, Enlarged kidney OMIM:618272
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal femur morphology, Abno... ORPHA:2063
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Bruck Syndrome 2
Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... OMIM:609220
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin, Cleft palate ORPHA:1779
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra... ORPHA:157965
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Anterior atlanto-occipital disloca... ORPHA:536467
Nicolaides-Baraitser Syndrome
Dry hair, High, narrow palate, Low anterior hairline, Short metatarsal, Prominent interphalangeal... OMIM:601358
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Short neck, Frontotemporal hypertrichosis, Metaphys... OMIM:263210
Arthrogryposis, Distal, Type 4
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Kyphosis, Low anterior hairline, Low po... OMIM:609128
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Inguinal hernia, True hermaphroditism, Abnormal labia morphology, Ambiguous genita... ORPHA:325345
Osteoglophonic Dysplasia
Osteopenia, Short neck, Hypoplastic toenails, Short metatarsal, High palate, Short palm, Short ph... OMIM:166250
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Sparse axillary hair, Testicular neoplasm, ... ORPHA:99429
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital diaphragm... ORPHA:887
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Kyphoscoliosis, Crani... ORPHA:65759
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short neck, Short toe, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis... OMIM:103580
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... ORPHA:2228
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin... OMIM:136140
C Syndrome
Omphalocele, Sacral dimple, Toe syndactyly, Multicystic kidney dysplasia, Redundant skin, Abnorma... ORPHA:1308
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Red... ORPHA:192
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Renal insufficiency, Proteinuria, Ab... OMIM:133540
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Stickler Syndrome, Type I
Retinal detachment, Vitreoretinopathy, Membranous vitreous appearance, Retinal hole OMIM:108300
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Cleft pa... OMIM:615300
Werner Syndrome
Low back pain, Elevated circulating aspartate aminotransferase concentration, Elevated hemoglobin... OMIM:277700
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Cleft palat... ORPHA:2890
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Oculofaciocardiodental Syndrome
Retinal detachment, Iris coloboma ORPHA:2712
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Joint laxity, Inguinal hernia, Calcaneovalgus deformity, Atrophic scars, Hyperextensible skin, So... OMIM:225320
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Takenouchi-Kosaki Syndrome
Inguinal hernia, Overlapping toe, Hypospadias, Proximal placement of thumb, Highly arched eyebrow... OMIM:616737
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Macrocytic anemia, Congenital diaphragmatic hernia, Short neck, Long fingers, Sy... OMIM:614294
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Renal insuffic... OMIM:619487
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Optic atrophy OMIM:619833
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:613244
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sparse eyelashes, Sandal gap, Abnormal hair pattern, Highly arched eyebrow, Sp... ORPHA:178303
Flat Face-Microstomia-Ear Anomaly Syndrome
Inguinal hernia, Small scrotum, Camptodactyly of finger, Highly arched eyebrow, Sparse eyebrow, H... ORPHA:1968
Congenital Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Protruding tongue, Hepatosplenomegaly, Polydactyly, Generalized hy... ORPHA:93400
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Scoliosis, Cutis laxa OMIM:614434
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Osteopenia, Inguinal hernia, Congenital hip dislocation, Arachnodact... OMIM:225400
Ehlers-Danlos Syndrome, Classic Type, 1
Hyperextensibility of the finger joints, Inguinal hernia, Hyperextensibility at elbow, Joint hype... OMIM:130000
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Short Syndrome
Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Excessive wrinkled s... ORPHA:3163
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Prolonged neonatal jaundice, Tapered finger OMIM:618512
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis, Abnormal testis morphology ORPHA:1548
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Recurrent fractures, Reduced circulating prolactin concentration, ... ORPHA:2235
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Inguinal hernia, Supernumerary nipple, Widow's peak, Submucous cleft hard palat... OMIM:619122
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Esophageal carci... ORPHA:139507
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Esophageal stricture, Pterygi... OMIM:224230
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypoparathyroidism, Hepatomegaly, Hypopla... ORPHA:231214
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness OMIM:617087
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Renal cyst, Microph... OMIM:618454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... OMIM:606612
Barber-Say Syndrome
Brachydactyly, Absent nipple, Sparse eyelashes, Redundant skin, Lipodystrophy, Sparse eyebrow, Cr... OMIM:209885
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Chronic hepatitis, Uncombable hair, Colitis, Cirrhos... OMIM:614602
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin OMIM:301021
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Classic Homocystinuria
Gastrointestinal hemorrhage, Sparse scalp hair, Hepatomegaly, Elevated hepatic transaminase, Arac... ORPHA:394
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Increased adipose tissue, Kyphosis, Spinal rigidity, Proximal amyotrophy, Scoliosis OMIM:617404
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
X-Linked Intellectual Disability, Wilson Type
Abnormal position of hair whorl, Inguinal hernia, Hydrocele testis ORPHA:85290
Carpenter Syndrome 2
Short neck, Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Preaxial polyda... OMIM:614976
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Inguinal hernia, Sagittal craniosynostosis, Sparse eyebrow, Hypoplastic toenai... ORPHA:459061
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Tapered finger, Sparse eyebrow, Short neck, Cryptorchidi... ORPHA:444072
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Flexion contracture, Absence ... OMIM:601675
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... ORPHA:970
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency, Cutis laxa OMIM:105120
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... ORPHA:98848
Arterial Tortuosity Syndrome
Inguinal hernia, Arachnodactyly, Redundant skin, Rocker bottom foot, Coxa valga, Avascular necros... ORPHA:3342
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Osteoporosis, Low posterior hairline, Hypogonadism, Clinodactyly of the 5t... ORPHA:73272
Intellectual Developmental Disorder, Autosomal Recessive 65
Inguinal hernia, Hypospadias, Supernumerary nipple, Cryptorchidism, Contracture of the proximal i... OMIM:618109
Thanatophoric Dysplasia Type 2
Redundant skin, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Ab... ORPHA:93274
Autosomal Recessive Cutis Laxa Type 2A
Inguinal hernia, Congenital hip dislocation, Thick hair, Increased susceptibility to fractures, E... ORPHA:357058
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finge... ORPHA:2616
Ablepharon-Macrostomia Syndrome
Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Omphalocele, Redundant skin, Am... OMIM:200110
Opitz Gbbb Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Vertebral segmentation defect, High palate, Vesic... ORPHA:2745
Mucolipidosis Type Ii
Hip contracture, Dry hair, Inguinal hernia, Diastasis recti, Craniosynostosis, Limited wrist move... ORPHA:576
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal finger morphology, Abno... ORPHA:2636
Mycetoma
Back pain, Osteomyelitis, Abnormality of the lymphatic system, Bone cyst, Osteoporosis, Abnormal ... ORPHA:2583
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Redundant skin, Joint stiffness, Hypoplastic ilia, Abnorma... ORPHA:1860
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Thrombocytopenia, Ane... OMIM:617475
Opitz Gbbb Syndrome
Inguinal hernia, Hypospadias, Rectourethral fistula, Cryptorchidism, Widow's peak, Cleft palate, ... OMIM:300000
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses of the proximal phalanges of ... OMIM:190350
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Vertebral segmentation defect, Narrow greater sciati... OMIM:312870
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Inguinal hernia, Facial hypotonia, Arachnodactyly, Atrophic scars, High palate, Cam... OMIM:615539
Triploidy
Omphalocele, Finger syndactyly, Hypoplasia of penis, Hepatomegaly, Hypospadias, Intestinal malrot... ORPHA:3376
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis OMIM:615267
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Contractures-Developmental Delay-Pierre Robin Syndrome
Inguinal hernia, Overlapping toe, Arachnodactyly, Thoracolumbar scoliosis, Hypospadias, Metatarsu... ORPHA:436003
Craniofrontonasal Syndrome
Ridged nail, Congenital diaphragmatic hernia, Short neck, Clinodactyly of the 5th finger, Split n... OMIM:304110
Chromosome 18Q Deletion Syndrome
Joint laxity, Inguinal hernia, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal plac... OMIM:601808
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Redundant skin, Urinary incontinence, Kyphosis, Irregular menstruation, Tib... OMIM:616482
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Inguinal hernia, Hypoplastic fingernail, Hypoplastic toenails, Hypoplastic fifth fingernail, Symp... ORPHA:1292
Mirage Syndrome
Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Radial club hand, Esophageal str... OMIM:617053
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hyperextensible skin OMIM:615937
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Osteoporosis, Abnormality... ORPHA:2169
Gapo Syndrome
Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Nephrolithiasis, Abnorma... ORPHA:2067
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... OMIM:610915
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Hypoplasia of penis, Femoral hernia, Renal insufficiency, Highly arched eyebrow,... ORPHA:96147
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis, Hirsutism OMIM:615830
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Hypospadias, Craniosynostosis, Short neck, Preco... ORPHA:254346
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Osteoporosis, Muscular dystrophy OMIM:204730
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Nail pits, Hepatic necros... OMIM:127550
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Hyperconvex nail, Highly arched eyebrow, Tapered finger, Short toe, Cleft ... OMIM:239300
Braddock-Carey Syndrome 1
Curly hair, Multicystic kidney dysplasia, Hyperlordosis, Small hand, Cleft palate, Anteriorly pla... OMIM:619980
Becker Nevus Syndrome
Lipoatrophy, Supernumerary nipple, Kyphosis, Abnormal tibia morphology, Hypoplastic labia minora,... ORPHA:64755
Pseudopseudohypoparathyroidism
Short metacarpal, Short neck, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis, Enamel hy... OMIM:612463
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, C... OMIM:612541
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormal... ORPHA:232
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Wilson Disease
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepa... OMIM:277900
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Omphalocele, Inguinal hernia, Redundant neck skin, Overlapping toe, Diastasis recti, Jo... ORPHA:254528
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inguinal hernia, Abnormality of hair texture, Megaloblastic anemia, Gastroesophageal reflux, Hypo... ORPHA:79351
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Refractory Celiac Disease
Elevated hepatic transaminase, Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorpti... ORPHA:398063
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long eyelashes, Anony... OMIM:616455
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha... ORPHA:2308
Dyskeratosis Congenita, X-Linked
Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Split nail, Alopecia, Hyp... OMIM:305000
Koolen-De Vries Syndrome
High palate, Vesicoureteral reflux, Prominent fingertip pads, Vertebral fusion, Cryptorchidism, H... OMIM:610443
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Tracheomalacia, Tapered finger, Precocious puberty, Hyperextensible skin, Gastro... ORPHA:261652
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:601163
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly, Osteoporosis, Dentinogenesis imperfecta ORPHA:71267
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis OMIM:615270
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Mic... OMIM:616541
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia OMIM:609141
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Ovarian cyst, Pancreatitis, Striae distensae OMIM:610475
Schinzel-Giedion Syndrome
Short neck, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Hepatoblastoma, Broad... ORPHA:798
Loeys-Dietz Syndrome 4
Joint laxity, Torticollis, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Eosinophilic inf... OMIM:614816
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... OMIM:300972
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Ovarian neoplasm, Macroglossia,... ORPHA:2221
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Distichiasis, Anemia ORPHA:2598
Giant Axonal Neuropathy
Facial palsy, Abnormal pituitary gland morphology, Genu valgum, Scoliosis, Woolly hair, Limb musc... ORPHA:643
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short neck, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis, Hypogonad... OMIM:612462
Burn-Mckeown Syndrome
Inguinal hernia, Unilateral renal agenesis, 2-3 toe syndactyly, Cleft palate, Renal hypoplasia, B... OMIM:608572
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Thrombocytopenia, Cleft palate, Hydrocele testis, Slender long bone, Congenital ... ORPHA:96181
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, Ab... ORPHA:818
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Renal hy... OMIM:601186
Congenital Myopathy 21 With Early Respiratory Failure
Inguinal hernia OMIM:620326
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Curly hair, Sparse scalp hair, Inguinal hernia, Joint laxity, Short neck, Cryptorc... OMIM:607721
Aniridia-Absent Patella Syndrome
Inguinal hernia ORPHA:1069
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Hereditary Mucoepithelial Dysplasia
Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Hematuria, Sp... ORPHA:1839
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Inguinal hernia, Redundant skin, Pyloric stenosis, Hip dislocation, Lack of skin el... ORPHA:90349
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Mcdonough Syndrome
Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Cryptorchidism, Scoliosis ORPHA:2471
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
X-Linked Intellectual Disability, Snyder Type
Long toe, Decreased muscle mass, Arachnodactyly, Hypospadias, Kyphoscoliosis, Ectopic kidney, Spa... ORPHA:3063
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Normocytic anemia, Inguinal hernia, Rocker bottom foot, Kyphoscoliosis, Short n... OMIM:618947
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Short neck, Flattened epiphysis, Genu valg... OMIM:607131
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Sparse scalp hair, Recurrent fractures, 2-3 toe syndactyly, Fine hair, Joint hyperfle... ORPHA:2324
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Trans... OMIM:129900
Short Syndrome
Joint laxity, Enlarged epiphyses, Inguinal hernia, Lipodystrophy, Lipoatrophy, Absence of subcuta... OMIM:269880
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hernia, Hydronephro... OMIM:620141
Distal Duplication 6P
Abnormal hair quantity, Sacral dimple, Short neck, Abnormal eyelash morphology, Renal hypoplasia,... ORPHA:1745
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux... ORPHA:534
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Brachydactyly, Short neck, Abnormality of the humerus, Preaxial hand poly... ORPHA:3098
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Degenerative vitreoretinopathy ORPHA:1427
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Elevated hepatic transaminase, Congenital hip dislocation, Left ventricular hypert... OMIM:300280
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Postaxial h... ORPHA:2075
Smith-Magenis Syndrome
Retinal detachment ORPHA:819
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Lipoatrophy, Recurrent fractures, Osteoporosis, Thin ribs, Tibial bowing, Slender ... OMIM:601812
Caudal Duplication
Omphalocele, Abnormal penis morphology, Ureteral duplication, Cryptorchidism, Abnormal sacrum mor... ORPHA:1756
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Inguinal hernia, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Crypt... OMIM:227330
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Absent ... OMIM:154400
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Hydronephrosis, Reduced bone ... ORPHA:3079
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Inguinal hernia, Vertebral fusion, Tarsal synostosis, Elbow contracture, Short n... OMIM:178110
Sandhoff Disease
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:796
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Oeis Complex
Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Hemivertebrae, Anteriorly pl... OMIM:258040
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys... OMIM:615761
Baralle-Macken Syndrome
Striae distensae, Urinary incontinence, Tapered finger, High, narrow palate, Kyphosis, Hirsutism OMIM:619255
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Coxa valga, Short neck, Limitation... ORPHA:254519
Aspartylglucosaminuria
Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Abnormal morphology of ulna, Malabsorption... ORPHA:93
Trisomy 13
Abnormal eyelash morphology, High, narrow palate, Postaxial hand polydactyly, Kyphosis, Abnormal ... ORPHA:3378
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Clinodactyly of the 5th finger, Sparse hair, Hepatomegaly, Elevated circulating aspartate aminotr... OMIM:280000
Microphthalmia, Syndromic 1
High, narrow palate, Rectal prolapse, High palate, Prominent fingertip pads, Syndactyly, Lumbar h... OMIM:309800
Genitopatellar Syndrome
Sparse scalp hair, Hip contracture, Small scrotum, Clitoral hypertrophy, Multicystic kidney dyspl... ORPHA:85201
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Umbilical hernia, Inguinal hernia, Gastroesophageal reflux, Elbow contracture OMIM:620275
Glass Syndrome
Inguinal hernia, Arachnodactyly, Anterior tibial bowing, Facial hypotonia, Cleft palate, Long eye... OMIM:612313
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Reduced bone mineral density, Sex reversal, Ambiguous genitalia, male, Clitor... ORPHA:168558
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Tubulointer... ORPHA:79259
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Inguinal hernia, Toe syndactyly, Sacral dimple, Hypospadias, Tapered finger, Cryptorchidism, Oste... ORPHA:459070
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Macrocytic anemia, Short thumb, Neutropenia, Vesicouretera... OMIM:612562
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism, Inguinal hernia, Tapered finger ORPHA:85322
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Retinal detachment, Rieger anomaly ORPHA:521445
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Hypospadias, Supern... ORPHA:217346
Beckwith-Wiedemann Syndrome
Ureteral duplication, Redundant skin, Congenital diaphragmatic hernia, Leiomyosarcoma, Vesicouret... ORPHA:116
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinog... OMIM:616507
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Reduced bone mineral density, Sex reversal, Ambiguous genitalia, male, Clitor... ORPHA:289548
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Erythema, Scaling skin, Joint contracture, Dry skin, Limb hypertonia OMIM:614457
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Scoliosis, Thick eyebrow ORPHA:2429
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Primary Sclerosing Cholangitis
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Generalized ... ORPHA:171
Aymé-Gripp Syndrome
Sparse scalp hair, Inguinal hernia, Proteinuria, Rocker bottom foot, Congenital diaphragmatic her... ORPHA:1272
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
X Small Rings
Joint laxity, Toe syndactyly, Premature ovarian insufficiency, Tapered finger, Short neck, Osteop... ORPHA:96201
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Inguinal hernia, Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, High palate, Radial deviation... OMIM:609944
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Abnormal vitreous humor morphology, Retinal arteritis, Macul... ORPHA:209959
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Short neck, Synophrys, Cleft palate, Primary amenorrhea, Hypoplas... ORPHA:247768
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Hepatomegaly, Redundant neck skin, Short neck, Abnormal thumb morphology, ... ORPHA:1842
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Sacral dimple, Cryptorchidism, Abnormality of the abdominal wall, C... OMIM:247200
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620155
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Synophrys, Cleft palate, Scoliosis, Hypertrichosis ORPHA:85317
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation ORPHA:290
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Inguinal hernia, Arachnodactyly, Ureteral stenosis, Abnormal thumb morp... ORPHA:2719
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Dorsocervical fat pad, Down-sloping shoulders, Kyphoscoliosis, Deviation of the 5th... ORPHA:391408
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Osteopor... OMIM:606054
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Cryptorchidism, Vesicoureteral reflux, Sho... ORPHA:250989
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Sandal gap, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint c... OMIM:618914
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin OMIM:129490
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Broad hallux, Facial hypotonia, Postaxial polydactyly, Unilateral renal agenesis... ORPHA:457284
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia... ORPHA:98849
Axenfeld-Rieger Syndrome, Type 2
Umbilical hernia, Anal stenosis, Inguinal hernia OMIM:601499
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, External genital hypoplasia, Short neck, Generalized joint laxity, Tibial bowing, Hig... ORPHA:251028
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Chromosome 17Q12 Deletion Syndrome
Renal cyst, High palate, Short palm, Long toe, Multicystic kidney dysplasia, Highly arched eyebro... OMIM:614527
Ritscher-Schinzel Syndrome 4
Curly hair, Tapered finger, Cryptorchidism, Hip dislocation, Narrow palate, Hip dysplasia, High p... OMIM:619435
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Synophrys, Gastroesophageal reflux, Joint contracture of the 5th finger, Clinodactyly... ORPHA:363611
Vulto-Van Silfhout-De Vries Syndrome
Joint laxity, Sacral dimple, Widow's peak, 2-3 toe cutaneous syndactyly, Fine hair, High palate, ... OMIM:615828
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Pseudoachondroplasia
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost... OMIM:177170
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Overlapping toe, Supernumerary nipple, Highly arched eyebrow, Tapered finger, Cr... OMIM:618653
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis, Highly arched eyebrow OMIM:609384
7Q11.23 Microduplication Syndrome
Inguinal hernia, Sacral dimple, Hypospadias, Congenital diaphragmatic hernia, Short neck, Unilate... ORPHA:96121
Snijders Blok-Campeau Syndrome
Umbilical hernia, Inguinal hernia, High palate, Enamel hypoplasia OMIM:618205
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Midgut malrotation, Osteopor... ORPHA:2326
Trichothiodystrophy
Ridged nail, Osteopenia, Brittle hair, Multiple joint contractures, High, narrow palate, Thoracic... ORPHA:33364
Hyperekplexia 1
Umbilical hernia, Inguinal hernia OMIM:149400
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Noonan Syndrome 14
Curly hair, Scapular winging, Lymphopenia, Short neck, Sparse eyebrow, High, narrow palate, Kypho... OMIM:619745
Schisis Association
Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate, Anal atresia ORPHA:63862
Cardiac Valvular Dysplasia, X-Linked
Joint laxity, Joint stiffness, Cutis laxa OMIM:314400
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Cleft palate, Cutis laxa, Rectovaginal fistula, Ana... OMIM:270420
Hypermobile Ehlers-Danlos Syndrome
Gastrointestinal dysmotility, Anorectal anomaly, Osteoarthritis, Hyperextensible skin, Gastroesop... ORPHA:285
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Joint stiffness, Kyphosis, Bone cyst, Skin ulcer, Scoliosis ORPHA:2047
Houge-Janssens Syndrome 3
Umbilical hernia, Inguinal hernia, High palate OMIM:618354
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Supernumerary nipple, Highly... OMIM:619951
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Cutis Laxa, Autosomal Recessive, Type Iic
Reduced subcutaneous adipose tissue, Joint laxity, Overlapping toe, Kyphoscoliosis, Bilateral cry... OMIM:617402
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Gastroesophageal reflux, Micropen... OMIM:134780
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Synophrys, Scoliosis ORPHA:505652
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph... OMIM:609033
Zaki Syndrome
Sparse scalp hair, Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Sparse eyebrow... OMIM:619648
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Intes... OMIM:617602
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Absent penis, Vesicoureteral reflux, Bladder exs... ORPHA:322
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Dorsocervical fat pad, ... ORPHA:96253
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Hypospadias, Hypogonadotropic hypogonadism, Kyphosis, Cryptorch... OMIM:619718
Analbuminemia
Lipodystrophy, Osteoporosis OMIM:616000
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Decreased fertility, N... OMIM:234050
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Small scrotum, Reduced bone mineral density, Gastroesophageal reflux, High palate, He... OMIM:613658
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Vacterl With Hydrocephalus
Absence of the sacrum, Inguinal hernia, Femoral hernia, Esophageal atresia, Cryptorchidism, Hypop... ORPHA:3412
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S... OMIM:602535
Marshall Syndrome
Retinal detachment, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:560
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic ja... ORPHA:333
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,... OMIM:272460
Idiopathic Hypercalciuria
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... ORPHA:2197
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Osteoporosis, Bone cyst, Coxa... ORPHA:2848
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartom... ORPHA:99880
Viss Syndrome
Chronic gastritis, High, narrow palate, Generalized joint laxity, Hyperextensible skin, High pala... OMIM:619472
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Sparse hair, Bifid uvula, Syndactyly, Hypospadias, Sparse eyebrow, ... OMIM:129400
Simosa Craniofacial Syndrome
Inguinal hernia, Highly arched eyebrow, Sparse eyebrow, High, narrow palate, Abnormal hair morpho... OMIM:182150
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hyperconvex fingernails, Sparse hair, Abnormal vertebral morphology, Abnormality of the nail, Abs... ORPHA:2273
20Q11.2 Microduplication Syndrome
Bifid scrotum, Sacral dimple, Inguinal hernia, Cryptorchidism, Short foot, Short palm, Clinodacty... ORPHA:363659
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Hirsutism, High palate, W... OMIM:619244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Osteoporosis, Hypercalciuria,... OMIM:615398
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Abnormality of hair texture, Spa... ORPHA:2108
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Lactose intolerance, Hypospadias, Diastasis recti, Cryptorchidism, Intestinal polyp ORPHA:457485
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex, Short tubular bones of ... ORPHA:85184
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... ORPHA:1328
Adnp Syndrome
Joint laxity, Sparse scalp hair, Inguinal hernia, Broad hallux, Sandal gap, Urinary incontinence,... ORPHA:404448
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartom... ORPHA:143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Optic atrophy, Retinal dysplasia OMIM:253800
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment OMIM:607143
Thrombocytopenia-Absent Radius Syndrome
Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused cervical vertebr... ORPHA:3320
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:98855
Smith-Kingsmore Syndrome
Curly hair, Diastasis recti, Short proximal phalanx of finger, Cryptorchidism, Umbilical hernia, ... OMIM:616638
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur content, Sparse ... OMIM:300953
Rhyns Syndrome
Osteopenia, Renal insufficiency, Radial bowing, Decreased response to growth hormone stimulation ... OMIM:602152
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neut... OMIM:232220
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Osteoporosis, Macronodular ad... OMIM:219080
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis OMIM:614898
Hypomelanosis Of Ito
Syndactyly, Alopecia, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodac... OMIM:300337
Anterior Cutaneous Nerve Entrapment Syndrome
Inguinal hernia, Recurrent infection of the gastrointestinal tract ORPHA:51890
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Hirsutism ORPHA:77296
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Coxa valga, Coronal craniosynostosis, Tiger tail banding, Dry skin OMIM:616943
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Sacral dimple, Abnormal fallopian tube morphology, Abnormal dental ena... ORPHA:2556
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Centrally ... OMIM:248800
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Osteopenia, Inc... OMIM:239000
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Su... OMIM:308205
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... ORPHA:98863
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Chorioretinal atrophy, Iris transillumination defect, Vitr... OMIM:267750
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Arachnodactyly, Ing... OMIM:615582
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Tsh-Secreting Pituitary Adenoma
Osteopenia, Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fer... ORPHA:91347
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma... ORPHA:90793
22Q11.2 Deletion Syndrome
Short neck, Anorectal anomaly, Gastroesophageal reflux, Abnormality of the uterus, Hypoplasia of ... ORPHA:567
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Kyphosis, Cryptorchidism, High palate, Shawl scrotum, Micropenis, De... OMIM:615433
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline, Bifid uvula, Tapered f... OMIM:613458
Robinow Syndrome, Autosomal Dominant 1
Short neck, Clitoral hypoplasia, High palate, Short palm, Micropenis, Duplication of the distal p... OMIM:180700
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, D... OMIM:254090
Hutchinson-Gilford Progeria Syndrome
Alopecia, Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis OMIM:176670
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... ORPHA:352447
15Q14 Microdeletion Syndrome
Inguinal hernia, Cleft palate ORPHA:261190
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Prominent fingertip pads, Fine hair, Long eyelashes, Labial hypoplasia, Clinodactyly of the 5th f... ORPHA:231137
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Dislocation Of The Hip-Dysmorphism Syndrome
Inguinal hernia ORPHA:2412
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Brittle hair, Hypospadias, Oral-pharyngeal dysphagia, Joi... OMIM:619184
Distal 22Q11.2 Microdeletion Syndrome
Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Highly arched eyebrow, Coxa... ORPHA:261330
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Shor... OMIM:229850
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... ORPHA:168563
Lathosterolosis
Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volu... OMIM:607330
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Joint stiffness, Abnormal hair m... ORPHA:1979
Ck Syndrome
Hyperlordosis, Kyphosis, High palate, Scoliosis, Abnormal cortical bone morphology, Abnormal digi... OMIM:300831
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Syndactyly, Sacral dimple, Redundant neck skin, Broad hallux, Hypospadias, Widow's... OMIM:239710
Noonan Syndrome 8
Curly hair, Short neck, Cryptorchidism, Hyperextensible skin, Palmoplantar cutis laxa, Left ventr... OMIM:615355
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture OMIM:614498
Neonatal Marfan Syndrome
Long toe, Arachnodactyly, Lipoatrophy, Long fingers, High, narrow palate, Flexion contracture, Cu... ORPHA:284979
Catel-Manzke Syndrome
Short neck, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Joint laxity,... OMIM:616145
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Inguinal hernia, High palate, Hypospadias OMIM:619272
Noonan Syndrome 6
Curly hair, Juvenile myelomonocytic leukemia, Long eyebrows, Short neck, Cryptorchidism, Low post... OMIM:613224
Cardiofaciocutaneous Syndrome 4
Joint laxity, Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone ... OMIM:615280
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia ORPHA:95706
Meckel Syndrome, Type 7
Inguinal hernia, Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Biliary cir... OMIM:267010
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Redundant neck skin, Intestinal mal... ORPHA:2729
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment, Vitreoretinopathy OMIM:183900
Xp21 Deletion Syndrome
Joint laxity, Decreased muscle mass, Hypogonadotropic hypogonadism, Osteoporosis, Reduced bone mi... ORPHA:261476
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphol... ORPHA:2916
Hemifacial Atrophy, Progressive
Kyphosis, Tongue atrophy, Patchy alopecia, Poliosis OMIM:141300
Cdags Syndrome
Sparse scalp hair, Sparse eyelashes, Hypospadias, Sagittal craniosynostosis, Sparse eyebrow, Rect... OMIM:603116
Cutis Marmorata Telangiectatica Congenita
Multiple cafe-au-lait spots, Retinal detachment, Leukocoria ORPHA:1556
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Osteoporosis, Rickets, Proximal tubulopathy OMIM:560000
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Redundant skin, Erythema, Clubbing, Osteoporosis, Osteolytic defects of the phalanges... OMIM:259100
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Hepatic fibrosis, Sparse hair, Bifid uvula, Hepatomegaly, Hypospad... OMIM:222470
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Brittle hair, Bilateral cryptorchidism, Pyloric stenosis, Neutropenia, Tiger tail ba... OMIM:616395
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos... OMIM:255200
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Scarring, Scarring alopecia of scalp, Splenomegaly, Loss of eyelash... ORPHA:95159
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Osteoporosis, Steatorrhea OMIM:266510
Intellectual Developmental Disorder, Autosomal Dominant 58
Inguinal hernia, Facial hypotonia, Protruding tongue, Submucous cleft hard palate, High palate, H... OMIM:618106
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Coronal craniosynostosis ORPHA:228390
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Umbilical he... OMIM:115470
Hawkinsinuria
Sparse hair, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair ORPHA:2118
Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:98853
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Splenomegaly... ORPHA:583
Amish Lethal Microcephaly
Hepatomegaly, Cleft soft palate, Limitation of joint mobility, Osteoporosis, Organic aciduria, De... ORPHA:99742
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Gastrointestina... ORPHA:436252
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enter... OMIM:619991
Lymphatic Malformation 12
Inguinal hernia OMIM:620014
Dubowitz Syndrome
Sparse scalp hair, Syndactyly, Inguinal hernia, Sacral dimple, Hypospadias, Aplastic anemia, Cryp... OMIM:223370
Noonan Syndrome 5
Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Fine hair, Small nail, Dry skin OMIM:611553
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Hypospadias, Kyphoscoliosis, Severe generalized osteoporosis, Hypoplastic pubic ... OMIM:210730
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Cockayne Syndrome A
Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win... OMIM:216400
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Increased stool urobilinogen concentration, Scarring alopecia of scalp,... ORPHA:79277
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Osteopenia, Kyphosis, Osteoporosis, Secondary amenorrhea, Stria... OMIM:610489
Knobloch Syndrome 2
Retinal detachment, Vitreoretinopathy, Vitreous floaters OMIM:618458
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Microcephaly 30, Primary, Autosomal Recessive
Inguinal hernia, Cleft soft palate OMIM:620183
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern... ORPHA:1488
Oculodentodigital Dysplasia
Brittle hair, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Sparse hair,... ORPHA:2710
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Carvajal Syndrome
Woolly hair ORPHA:65282
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m... ORPHA:3035
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... OMIM:619525
Mulibrey Nanism
Pigmentary retinopathy, Iris coloboma OMIM:253250
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Joint laxity, Hypospadias, Proteinuria, Glomerulonephritis, Synophrys, Hip dislocation, Fine hair... OMIM:619428
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Kyphosis, Genu valgum, Scoliosis,... OMIM:300602
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, High, narrow palate, Kyphosis, Split hand, Scoliosis, Foot dorsi... OMIM:618124
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, High, narrow palate, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scol... ORPHA:2181
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... ORPHA:93360
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis OMIM:126550
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Inguinal hernia, Overlapping toe, Hypospadias, Proximal placement of thumb, Highly arched eyebrow... ORPHA:487796
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Scol... OMIM:619131
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost... ORPHA:3219
Wieacker-Wolff Syndrome
Facial palsy, Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Hip dislocation, ... OMIM:314580
Primrose Syndrome
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... OMIM:259050
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrhea, Hypoplastic lab... OMIM:618187
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Malabsorption, Sparse eyebrow, Abnormal hair morphology, Ect... ORPHA:634
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis OMIM:616756
Frank-Ter Haar Syndrome
Short palm, Osteopenia, Bowing of the long bones, Redundant neck skin, Anterior concavity of thor... OMIM:249420
Barber-Say Syndrome
Redundant skin, Sparse or absent eyelashes, Hyperextensible skin, Breast aplasia, Hypoplastic nip... ORPHA:1231
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Hemivertebrae, Gonadotropin deficiency, Micropenis, Bifid uvula, A... ORPHA:672
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Pseudobulbar paralysis, Hi... OMIM:618651
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Intestinal malrotation, Postaxial polydactyly, Highly arched eyebrow, Kyphosis, Cryptorchidism, L... ORPHA:404440
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Redundant skin, Cutis laxa, Hyperextensible skin, Uterine prolapse OMIM:123700
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Orofaciodigital Syndrome Xvi
Inguinal hernia, Hamartoma of tongue OMIM:617563
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair, High palate ORPHA:50812
Distal Deletion 12Q
Short neck, Ectopic kidney, High, narrow palate, Biliary atresia, Aplasia/Hypoplasia of the middl... ORPHA:96149
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Flexion contracture, Kyphosis OMIM:618237
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Gastroschisis, Anal... ORPHA:989
Incontinentia Pigmenti
Retinal detachment, Abnormal chorioretinal morphology, Retinal vascular proliferation, Retinal he... ORPHA:464
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Gastroesop... OMIM:194190
Pycnodysostosis
Ridged nail, Decreased response to growth hormone stimulation test, Generalized osteosclerosis, H... ORPHA:763
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia OMIM:236670
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, High palate, Hypoplasia of the ulna, ... ORPHA:958
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Hypergonadotropi... OMIM:203800
Fraser Syndrome 2
Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Low anterior hairl... OMIM:617666
Tenosynovial Giant Cell Tumor
Abnormal hip joint morphology, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnorma... ORPHA:66627
Pelviscapular Dysplasia
Congenital hip dislocation, Redundant neck skin, Short femur, Hypoplastic scapulae, Short neck, H... ORPHA:93333
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate, Hypoplasia of t... OMIM:601076
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Osteoporosis, Ne... OMIM:232200
Typical Nemaline Myopathy
Facial palsy, Short neck, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Flexion contractu... ORPHA:171436
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Hydrocele testis, Micropenis OMIM:618810
Prolidase Deficiency
Hepatomegaly, Arachnodactyly, Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterio... ORPHA:742
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Platy... OMIM:259440
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti OMIM:607903
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence, Kyphosis, Infertility, Scoliosis, Limb muscle weakness, Lower limb muscle w... OMIM:614409
Brittle Cornea Syndrome 2
Umbilical hernia, Inguinal hernia OMIM:614170
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi... ORPHA:3454
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair OMIM:601453
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Oste... ORPHA:284984
Spondylometaphyseal Dysplasia, Sedaghatian Type
Redundant skin, Short neck, Delayed epiphyseal ossification, Narrow greater sciatic notch, Long f... OMIM:250220
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Constricting Bands, Congenital
Omphalocele, Bladder exstrophy, Gastroschisis, Cleft palate OMIM:217100
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Abnormality of hair texture, Short first metatarsal, Nail dystrophy, Nail dysplasi... OMIM:601957
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky... OMIM:615084
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Coxa vara, Fine hair, Anemia, Narrow pelvis bone, Joint hyperflexibility, Abn... ORPHA:2637
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Cardiofaciocutaneous Syndrome 3
Reduced bone mineral density, Curly hair, Scoliosis, Short neck OMIM:615279
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidi... OMIM:613457
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Hypoplastic spleen, Thin ribs, Slender long bone, Micropenis, Decrea... OMIM:602361
Macular Degeneration, Age-Related, 3
Distal amyotrophy, Hyperextensible skin, Joint hypermobility OMIM:608895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Optic atrophy, Retinal dyspl... OMIM:613154
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Osteoporosis OMIM:601811
Leri Pleonosteosis
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Lack of skin elasticity, Ab... ORPHA:2900
Mucopolysaccharidosis Type 4
Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Short ne... ORPHA:582
Marshall Syndrome
Retinal detachment, Vitreoretinopathy OMIM:154780
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Cryptorchidism, Cleft palate, Aplasia/Hypoplasia of the nails, Abdominal situ... OMIM:619123
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Hypoplasia ... OMIM:614841
Cln3 Disease
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy ORPHA:228346
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Kyphosis, Limitation of joint mob... ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Premature ovarian insufficiency, Hy... OMIM:212065
Phocomelia, Schinzel Type
Hypoplasia of penis, Short neck, High, narrow palate, Abnormal tibia morphology, Foot oligodactyl... ORPHA:2879
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Syndactyly, Sacral dimple, Short neck, Kyphosis, Cryptorchidism, Cleft palate, Micro... OMIM:616894
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair OMIM:615278
Ehlers-Danlos Syndrome, Vascular Type
Inguinal hernia, Joint hypermobility, Cryptorchidism, Cigarette-paper scars, Cystocele, Foot acro... OMIM:130050
Acrocallosal Syndrome
High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Finger syndactyly, Hypospad... OMIM:200990
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl... ORPHA:268261
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the ... OMIM:614837
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Amme Complex
Inguinal hernia, Sandal gap, Diastasis recti, Clinodactyly of the 2nd toe, Hematuria, Elliptocyto... OMIM:300194
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Joint laxity, Cholestasis, Drumstick terminal phalanges, Hepatospl... ORPHA:541423
Cockayne Syndrome Type 2
Hepatomegaly, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Male hypogonadi... ORPHA:90322
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... ORPHA:1606
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Hypersplenis... ORPHA:77259
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Diets-Jongmans Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Hip dysplasia, Umb... OMIM:618846
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Redundant skin, High, narrow palate, Osteoarthritis, Gastrointestinal... ORPHA:286
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Abnormality of the ure... ORPHA:2522
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Redundant neck skin, Joint hypermobility, Highly arched eyebrow, Low posterior hairli... OMIM:617360
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Joint stiffness, Lack of skin elasticity, Atypical scarring of skin, Nail dystr... ORPHA:1366
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, Foot ol... OMIM:276820
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Omphalocele, Intestinal malrotation, Hypoperistalsis, ... ORPHA:2241
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Hip dysplasia, Facial myokymia OMIM:620007
Primary Biliary Cholangitis
Portal hypertension, Celiac disease, Jaundice, Osteoporosis, Biliary cirrhosis, Hepatitis, Gastro... ORPHA:186
Distal Deletion 3P
Inguinal hernia, Sacral dimple, Short neck, Cryptorchidism, Postaxial hand polydactyly, Cleft pal... ORPHA:1620
Noonan Syndrome 9
Curly hair, Hydroureter, Short neck, Sparse eyebrow, Cryptorchidism OMIM:616559
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... OMIM:274000
Chromosome 18P Deletion Syndrome
Toe syndactyly, Redundant neck skin, Short neck, Cryptorchidism, Coxa vara, Gonadal dysgenesis, H... OMIM:146390
Micro Syndrome
Hypoplasia of penis, Joint stiffness, Kyphosis, Cryptorchidism, Hypoplastic labia minora, Hydrone... ORPHA:2510
Carney Complex
Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Leydig cell neoplasia, Ovarian se... ORPHA:1359
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Primary hyperparathyroidism, Hypercalciuria, ... ORPHA:99879
Noonan Syndrome 7
Curly hair, Joint hypermobility, Short neck, Low posterior hairline, Scoliosis, Dysphagia, Impair... OMIM:613706
Noonan Syndrome 4
Curly hair, Ureteral duplication, Short neck, Sparse eyebrow, Cryptorchidism, Scoliosis, High ant... OMIM:610733
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis ORPHA:529665
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Protr... ORPHA:558
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Camptodactyly of finger, Hypoplasia of the musculature, High, narrow palate, Cry... ORPHA:1101
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Joint laxity, Hypospadias, Long fingers, Fine hair, High palate, Broad distal phalanx o... ORPHA:363686
Seckel Syndrome 10
Retinal detachment OMIM:617253
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ... OMIM:617052
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Axenfeld-Rieger Syndrome
Anal stenosis, Hypospadias, Redundant skin ORPHA:782
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking ... OMIM:230650
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Short neck, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo... OMIM:236500
X-Linked Creatine Transporter Deficiency
Joint hyperflexibility, Ileus, Aganglionic megacolon, Redundant skin ORPHA:52503
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp... OMIM:273395
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis OMIM:612591
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Abnormality of hair texture, Postaxial hand polydactyly, Stage 5 chronic kid... ORPHA:2752
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Thick hair, Sandal gap, Tapered finger, Abnormal eyelash morph... ORPHA:193
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Redundant neck skin, Hypospadias, Proximal placement of thumb, Short neck, Cryptorchi... OMIM:217980
Menke-Hennekam Syndrome 1
Inguinal hernia, Broad hallux, Overlapping toe, Sandal gap, Joint hypermobility, Cryptorchidism, ... OMIM:618332
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Synophrys, Cleft pal... OMIM:603457
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Tracheomalacia, Hyperlordosis, Sparse eyebrow, High, narrow ... OMIM:234100
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... ORPHA:440437
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Uterine prolapse, Precocious puberty, Cryptorchidism, Abnormality of th... ORPHA:438213
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Cutis laxa, High palate, Soft s... OMIM:614437
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Renal cys... OMIM:210710
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Facial palsy, Goiter, Quadriceps muscle weakness, Ragged-red muscl... ORPHA:254892
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Hyperextensible skin, Thoracic kyphosis... ORPHA:508498
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... ORPHA:1493
Okur-Chung Neurodevelopmental Syndrome
Inguinal hernia, Broad hallux, Highly arched eyebrow, Protruding tongue, Synophrys, High palate, ... OMIM:617062
Harrod Syndrome
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Kyphosis, Cryptorchidism, Abnormal sho... ORPHA:2115
4Q21 Microdeletion Syndrome
Toe syndactyly, Short neck, Kyphosis, Synophrys, Small hand, Short foot, Long eyelashes, Scoliosi... ORPHA:238750
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Coxa valga, Tapered finger, Protruding tongue, Kyphosis, Cryptorchid... OMIM:301040
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Abnormal limb bone morphology, Fine hair, Pili torti ORPHA:1573
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Decreased urinary sulfate, Increased urinary sulfite level, Fine hair OMIM:272300
Porphyria, Congenital Erythropoietic
Osteopenia, Absent eyebrow, Alopecia, Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Los... OMIM:263700
Ehlers-Danlos Syndrome, Hypermobility Type
Joint laxity, Striae distensae, Osteoarthritis, Hyperextensible skin, Soft skin, Joint hypermobility OMIM:130020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Fanconi Anemia
Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Hi... ORPHA:84
Distal Triplication 15Q
Arachnodactyly, Abnormal external genitalia, Craniosynostosis, Kyphosis, Flexion contracture, Hor... ORPHA:314588
Kleefstra Syndrome 2
Kyphosis, Scoliosis, Bifid uvula, Thick eyebrow OMIM:617768
Pontocerebellar Hypoplasia, Type 2E
Flexion contracture, Osteoporosis, Scoliosis OMIM:615851
Srd5A3-Cdg
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Microcytic ... ORPHA:324737
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Alopecia, Brachydactyly, Abnormal dental enamel morphology, Joint stiffness, K... ORPHA:1005
Sialidosis Type 1
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Kyphosis, Splenomegaly... ORPHA:812
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, T lymphocytopenia... ORPHA:508533
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Paronychia, Renal cyst, Gastrointestinal inflammation, Ureterocele, Abnormali... ORPHA:79404
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Lipodystrophy, Flexion contracture, ... ORPHA:86309
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Short neck, Synophrys, Narrow palate, Fine hair, Gastroesophageal reflux, Long ey... OMIM:620250
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis, Tapered finger ORPHA:276630
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Intestinal malrotation, Proteinuria, Hiatus hernia, Precocious puberty, Cryptorc... OMIM:616682
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Kyphoscoliosis, Sparse eyebrow, Synophrys, Hyposegmentation of neutrophil nuclei, Cli... OMIM:620075
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Cysticercosis
Retinal detachment, Abnormal optic chiasm morphology, Chorioretinitis ORPHA:1560
Kallmann Syndrome
Decreased testicular size, Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Recur... ORPHA:478
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, ... OMIM:617988
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple join... OMIM:618291
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatome... OMIM:620076
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... OMIM:607155
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... OMIM:619040
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Zttk Syndrome
Flexion contracture, Hemivertebrae, Hyperextensible skin, High palate, Bifid uvula, Absent gallbl... OMIM:617140
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of hai... ORPHA:667
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Facial palsy, Rocker bottom foot, Short neck, Urinary incontinence, Kyphosis, Ac... OMIM:301041
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair, Distal amyotrophy, Facial palsy, Scoliosis OMIM:256850
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Small hand, Genu valgu... OMIM:618443
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Synophrys, Scoliosis, Hirsutism OMIM:300861
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... OMIM:104100
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Heparan sulfate excretion in urine, Spl... ORPHA:217085
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Curly hair, Arachnodactyly, Hyperlordosis, High palate, Gastroesophageal reflux, Sc... OMIM:300986
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Increased susceptib... OMIM:612286
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ri... OMIM:269150
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Oral-pharyngeal dysphagia, Heparan... OMIM:615273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... OMIM:618138
Noonan Syndrome 2
Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperextensible s... OMIM:605275
Masa Syndrome
Kyphosis, Hyperlordosis, Adducted thumb OMIM:303350
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal metaphysis morphology, Abnormal rib morphology, Abnormal form of the vertebral... ORPHA:1354
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ... ORPHA:93315
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... OMIM:612287
Lysinuric Protein Intolerance
Osteopenia, Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial... ORPHA:470
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Cutis laxa OMIM:610842
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Sotos Syndrome
Ureteral duplication, Flexion contracture, Gastroesophageal reflux, Vesicoureteral reflux, Abnorm... ORPHA:821
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Heparan sulfate excretion in urine, Spl... ORPHA:217093
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Flexion contracture, Hyperextensible skin, Bifid uvula, Dislocated radial head, Long ... OMIM:130070
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Hypospadias, Rocker bottom fo... OMIM:214100
Acrocephalopolydactylous Dysplasia
Omphalocele, Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Short neck, ... OMIM:200995
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Abnormality of hair texture, Abnormality of the liver, Muscular dy... ORPHA:88618
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Inguinal hernia, Renal hypoplasia, Hydronephrosis OMIM:613735
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph... OMIM:188400
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Abnormal fingernail morphology, Unilateral hypoplasia of pectoralis major muscle, Sup... ORPHA:1521
Cardiofaciocutaneous Syndrome 1
Osteopenia, Absent eyebrow, Curly hair, Hyperextensibility of the finger joints, Slow-growing hai... OMIM:115150
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Short neck, Bilatera... ORPHA:508488
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Sandal gap, Tapered finger, Kyphosis, Synophrys, Low anterior hairline, Hirsuti... OMIM:617061
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... OMIM:613406
Loeys-Dietz Syndrome 2
Bifid uvula, Joint laxity, Syndactyly, Arachnodactyly, Eosinophilic infiltration of the esophagus... OMIM:610168
Malakoplakia
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Abnormality... ORPHA:556
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... OMIM:158330
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Adenoma se... ORPHA:3353
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Sparse hair, Broad ribs, Vertebral fusion, Cryptorchidism, Sh... OMIM:139210
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short neck, High, narrow palate, Low anterior hairline, Hyperextensible skin, Gastroesophageal re... OMIM:619950
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, F... ORPHA:365
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Hypospadias, Flexion contracture, Submucous cleft hard palate, Generalized limb mus... OMIM:618891
Cowden Syndrome 1
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hydrocele ... OMIM:158350
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Inguinal hernia, Hypospadias, Metatarsus adductus, Premature osteoarthritis... OMIM:611962
Cowden Syndrome 6
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hydrocele ... OMIM:615109
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Inguinal hernia, External genital hypoplasia, Cryptorchidism, Submucous clef... ORPHA:2250
Stüve-Wiedemann Syndrome
Osteopenia, Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Recurrent fractures... ORPHA:3206
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal r... ORPHA:2519
Netherton Syndrome
Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosino... OMIM:256500
White-Sutton Syndrome
Ventral hernia, Abnormality of the gastrointestinal tract, Inguinal hernia, Joint laxity, Facial ... ORPHA:468678
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Facial hypotonia, Kyphosis, Cryptorchidism, Narrow palate, Scoliosis, Micropenis, A... ORPHA:364028
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Kyphosis, Scoliosis ORPHA:101078
Immunodeficiency 12
Esophageal stricture, Clubbing, Abnormal lymphocyte count, Osteoporosis OMIM:615468
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Redundant neck skin, Overlapping toe, Hypospadias, Redundant umbilical skin, Crani... OMIM:123790
Von Hippel-Lindau Disease
Papilledema, Retinal detachment, Hypertensive retinopathy, Macular edema, Retinal capillary heman... ORPHA:892
Cowden Syndrome 5
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hydrocele ... OMIM:615108
Leopard Syndrome 2
Curly hair, Dry skin, Short neck OMIM:611554
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Osteopenia, Flexion contracture, Gastrointestinal inflammation, Iron deficien... ORPHA:79408
Pallister-Killian Syndrome
Congenital hip dislocation, Small scrotum, Congenital diaphragmatic hernia, Short neck, Flexion c... OMIM:601803
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Rocker bottom foot, Dysphagia, Adducted thumb ORPHA:89844
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contracture, Bone cyst, O... ORPHA:3042
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, High palate, Hepatic fibrosis, Sparse hair, Syndactyly, Alopecia, Ham... OMIM:311200
Cerebellofaciodental Syndrome
Tapered finger, Sparse eyebrow, Short neck, Cryptorchidism, Shortening of all distal phalanges of... OMIM:616202
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria, Umbilical hernia OMIM:614052
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Acute myeloid leukemia, Rhabdomyosarcoma, Testicular neoplasm, Ovarian ... ORPHA:524
Cloacal Exstrophy
Omphalocele, Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Abnormal t... ORPHA:93929
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short neck, Synophrys, High palate, Gastroesophageal reflux, Proportionate shortening of all digi... ORPHA:280633
Limb-Mammary Syndrome
Syndactyly, Alopecia, Absent nipple, Toe syndactyly, Submucous cleft soft palate, Sparse eyebrow,... ORPHA:69085
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Esophageal... ORPHA:391487
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Abnormality ... ORPHA:2909
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Highly arched eyebrow, Short neck, Cryptorchidism... OMIM:613563
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Abnormal hair pattern, Highly arched eyebrow, Kyphosis, Cryptorchidi... ORPHA:261250
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy ORPHA:88628
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, Polycystic kidney dysplasia OMIM:608776
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Small cervical vertebral bodies, Brachydactyly, Abnormal acetabulu... ORPHA:397715
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Limitation of joint mobility, High palate... ORPHA:1545
Aicardi Syndrome
Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy OMIM:304050
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Fucosidosis
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Kyphosis, Abnormality of the gallbladder, Mucop... ORPHA:349
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Short foot, Hip dysplasia, Gastroesoph... ORPHA:500055
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor ORPHA:464311
Chromosome 13Q14 Deletion Syndrome
Inguinal hernia, Overlapping toe, Supernumerary nipple, Cryptorchidism, Hip dislocation, High pal... OMIM:613884
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis, Cervical ribs, Intestinal malrotation ORPHA:77300
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Gastroesophageal... ORPHA:191
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Arachnodactyly, Proteinuria, Kyphosis, Chronic kidney disease, Low anterio... ORPHA:261222
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia, Joint hyperflexibility ORPHA:319199
Leopard Syndrome 3
Curly hair, Dry skin, Short neck, Low posterior hairline OMIM:613707
Mucopolysaccharidosis Type 2
Irregularity of vertebral bodies, Inguinal hernia, Hepatomegaly, Splenomegaly, Limitation of join... ORPHA:580
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Intestinal malrotation, Congenital di... OMIM:618280
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Vesicoureteral ref... OMIM:107480
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Redundant neck skin, Hypospadias, Supernumerary nipple, Proximal placement of thumb, Low anterior... OMIM:604314
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Osteoporosis OMIM:601979
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Joint hyperflexibility, Hyperextensible ski... ORPHA:230839
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Ureteral duplication, Intestinal malrotation, Congenital dia... OMIM:600001
Noonan Syndrome 10
Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Hyperextensible skin, High palate, Scolio... OMIM:616564
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Postaxial hand polydacty... OMIM:619879
Combined Oxidative Phosphorylation Deficiency 2
Elevated hepatic transaminase, Redundant neck skin, Brachydactyly OMIM:610498
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor... OMIM:618019
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Abnormal hip bone morphology, ... ORPHA:3236
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Inguinal hernia, Diastasis recti, Vesicoureteral reflux, Renal cortical cysts, Scoliosis, Soft skin OMIM:618548
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Skeletal muscle atrophy, Dry hair, Hepatomegaly, Renal insufficien... ORPHA:90324
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormality of the vertebral spinous processes, Abnormal tibia morphology, Tendon xan... ORPHA:909
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Toe syndactyly, Skin ulcer, Fine h... ORPHA:978
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Generalized joint laxity, Hyperextensible skin, High palate, Ecchymosis, Joint laxity, Arachnodac... OMIM:601776
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Erythema, Fine h... OMIM:257980
Achondroplasia
Lumbar hyperlordosis, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of fing... ORPHA:15
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Submucous cleft hard palate, Long eyelashes, High... OMIM:617412
Glycerol Kinase Deficiency
Increased urinary glycerol, Chronic pancreatitis, Cryptorchidism, Osteoporosis, Myopathy, Muscula... OMIM:307030
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypo... OMIM:154230
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Onycholysis, Nail dystrophy, Scaling skin OMIM:270300
Iniencephaly
Omphalocele, Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis multiplex congenita, ... ORPHA:63259
Mucolipidosis Iii Gamma
Hyperlordosis, Flat capital femoral epiphysis, Short neck, Kyphosis, Joint stiffness, Genu valgum... OMIM:252605
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, High, narrow palate, Abnormal f... ORPHA:3472
Spondyloocular Syndrome
Retinal detachment OMIM:605822
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Gastroesophageal reflux, ... ORPHA:464306
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Transient neutropenia, Multicystic kidney dysplasia, Chronic neutropenia, Abnorm... ORPHA:500095
Loeys-Dietz Syndrome 3
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Eosi... OMIM:613795
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... OMIM:313400
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti... OMIM:259770
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,... ORPHA:90794
Seckel Syndrome 7
Abnormal carpal morphology, Primary amenorrhea, Hypoplasia of the uterus, Hip dysplasia, Lumbar s... OMIM:614851
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Macrocytic anemia, Auto... ORPHA:227990
Microphthalmia, Lenz Type
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Kyphosis, Cr... ORPHA:568
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Kyphosis, Thin ribs, Platyspondyly, High palate, Lambdoidal cran... OMIM:616294
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... ORPHA:649
Chime Syndrome
Aplastic clavicle, Erythema, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Sk... ORPHA:3474
Orofaciodigital Syndrome Type 4
Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Hypoplastic to... ORPHA:2753
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Lopes-Maciel-Rodan Syndrome
Kyphosis, Small hand, Short foot, Scoliosis, Dysphagia OMIM:617435
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Shor... ORPHA:1798
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Highly arched eyebrow, Kyphosis, Cryptorchidism... OMIM:619005
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... ORPHA:1028
Oculodentodigital Dysplasia
Dry hair, Neurogenic bladder, Slow-growing hair, 4-5 finger syndactyly, Hip dislocation, Cleft pa... OMIM:164200
Adrenomyeloneuropathy
Back pain, Urinary incontinence, Frontal balding, Abnormal libido, Fine hair, Urinary urgency, Ad... ORPHA:139399
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Recur... OMIM:619377
Velocardiofacial Syndrome
Hypoparathyroidism, Inguinal hernia, Cryptorchidism, Velopharyngeal insufficiency, Submucous clef... OMIM:192430
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Macrocytic anemia, Auto... ORPHA:227982
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Limitation of joint... ORPHA:90153
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... OMIM:143095
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Joint hypermobility, Oral-pharyngeal dysphagia, Short neck, High, narr... OMIM:300966
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Renovascular hypertension, Cutis laxa OMIM:264800
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Osteoporosis, Pseudobulbar paralysis, Cholelithiasis, Lower limb muscle wea... OMIM:213700
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Bifid uvula, Cleft soft palate, Cleft palate ORPHA:2736
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... ORPHA:1858
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Bilateral cryptorchidism, F... OMIM:613451
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... OMIM:616433
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Retina... ORPHA:790
Peters Plus Syndrome
Ureteral duplication, Short neck, Clitoral hypoplasia, Clinodactyly of the 5th finger, Spina bifi... ORPHA:709
Woodhouse-Sakati Syndrome
Osteopenia, Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growt... ORPHA:3464
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... ORPHA:392
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb... OMIM:261540
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Joint laxity, Aganglionic megacolon, Hyperlordosis, High, narrow palate, Kyp... OMIM:162300
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Supernumerary nipple, Short neck, Unilateral renal agenesis, Kyphos... OMIM:619194
Cohen Syndrome
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... OMIM:216550
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the v... ORPHA:744
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, S... OMIM:614083
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Absent or minimally ossified vertebral bodies, Short palm, Ureth... ORPHA:93271
Pagod Syndrome
Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Abnormality of the sp... ORPHA:991
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Anal atresia ORPHA:63260
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Lack of skin elasticity, Nephrocalcinosis, Multiple lipomas, Excessi... ORPHA:758
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ... OMIM:615866
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Urinary incontinence, Kyphosis, Hip dislocatio... ORPHA:464282
Meckel Syndrome 12
Rocker bottom foot, Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Vaginal atre... OMIM:616258
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy OMIM:222300
Renpenning Syndrome 1
Brittle hair, Hypospadias, Phimosis, Renal hypoplasia, Cleft palate, High palate, Clinodactyly of... OMIM:309500
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Increased ... OMIM:618476
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Joint laxity, Striae distensae, Atypical scarring of skin, Hyperextensible skin, Petechiae OMIM:225310
X-Linked Intellectual Disability, Armfield Type
Inguinal hernia, Cryptorchidism, Small hand, Cleft palate, Short foot, Aminoaciduria, Organic aci... ORPHA:85276
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... OMIM:110100
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse p... OMIM:181270
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Congenital hip dislocation, High palate, Joint laxity, Thoracolumbar scoliosis, Taper... ORPHA:480880
Estrogen Resistance
Osteopenia, Primary amenorrhea, Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Isotretinoin-Like Syndrome
Inguinal hernia, Gastroesophageal reflux, Cleft palate ORPHA:2306
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Hypoplastic ... OMIM:119600
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Iron deficiency anemia, Colitis, Steatorrhea, Exocrine pancr... ORPHA:309031
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,... ORPHA:77293
Marden-Walker Syndrome
Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal... ORPHA:2461
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Splenomegaly ORPHA:79332
Gabriele-De Vries Syndrome
Hallux valgus, Distal lower limb amyotrophy, Sandal gap, Facial hypotonia, Decreased response to ... ORPHA:506358
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... OMIM:241080
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... OMIM:609441
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Gastroesophageal reflux, Hepatic fibrosis, Intrahepati... OMIM:619534
Noonan Syndrome With Multiple Lentigines
Scapular winging, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculatu... ORPHA:500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Glossopto... ORPHA:444077
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer ORPHA:454840
Necrotizing Enterocolitis
Gastroschisis ORPHA:391673
Olmsted Syndrome 2
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis OMIM:619208
Right Atrial Isomerism
Asplenia, Inguinal hernia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... ORPHA:1969
Marfan Syndrome
Hypoplasia of the iris, Retinal detachment OMIM:154700
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Leukonychia, Nail dystrophy, Woolly hair, Fragile nails OMIM:615821
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Pancytopenia, Abnormality of the spleen, Splenomegaly, Thrombocytopenia, Esophagea... ORPHA:2072
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Thin fingernail, Hypospadias, Abnormal dental enamel morphology, Tarsal synostosi... ORPHA:85199
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Woolly hair, Clubbing of fingers, Palmoplantar scalin... OMIM:605676
Geleophysic Dysplasia 1
Short palm, Hepatomegaly, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Lack ... OMIM:231050
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Kyphosis, Goiter, ... ORPHA:201
Zygomycosis
Retinal arterial occlusion, Retinal detachment ORPHA:73263
Lamellar Ichthyosis
Renal insufficiency, Lack of skin elasticity, Sparse hair, Dry skin, Abnormality of the nail, Apl... ORPHA:313
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:233710
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Scoliosis ORPHA:99014
Congenital Tracheomalacia
Esophageal atresia, Tracheoesophageal fistula, Cutis laxa, Gastroesophageal reflux, Tracheomalaci... ORPHA:95430
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lacticaciduria OMIM:619003
Atypical Rett Syndrome
Kyphosis, Small hand, Functional abnormality of the gastrointestinal tract, Short foot, Scoliosis ORPHA:3095
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia, Arthrogryposis multiplex c... OMIM:617143
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Broad metatarsal, Shor... OMIM:608328
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:233690
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Hypospadias, Highly arched eyebrow, Microvesicular hepatic steatosis,... OMIM:220111
Tetrasomy 5P
Pericallosal lipoma, Redundant neck skin, Overlapping toe, Short hallux, Short neck, Long fingers... ORPHA:3309
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Urethral atresia, Vertebral segmentation defect, High palate,... ORPHA:2052
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Pigmentary retinopathy OMIM:610651
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Osteoporosis OMIM:615954
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A... OMIM:616914
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Penile Agenesis
Urethral atresia, male, Cloacal abnormality, Hydroureter, Rectal fistula, Cryptorchidism, Anorect... ORPHA:49
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:300166
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Kyphosis, Gastroesophagea... ORPHA:79329
Costello Syndrome
Deep-set nails, Curly hair, Hyperextensibility of the finger joints, Redundant neck skin, Renal i... OMIM:218040
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Kyphosis, Macroglossia, Scoliosis, Dysphagia, Achalasia ORPHA:79107
Acromegaly
Dysmenorrhea, Synophrys, Wide penis, Osteoarthritis, Pituitary prolactin cell adenoma, Abnormal t... ORPHA:963
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Short 3rd toe, Tapered finger, Short thumb, Split hand, Low anterior hairline, Intrinsi... OMIM:618569
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Hyperplastic labia majora, High palate, Hepatic fibrosis... ORPHA:79318
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Yunis-Varon Syndrome
Redundant neck skin, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short ... OMIM:216340
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Rocker bottom foot, Long fingers, Postaxial hand polydac... ORPHA:521426
17Q11 Microdeletion Syndrome
Osteopenia, Rhabdomyosarcoma, Bowing of the legs, Gastrointestinal stroma tumor, Kyphosis, Precoc... ORPHA:97685
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Somatomammotropinoma
Dysmenorrhea, Synophrys, Osteoarthritis, Pituitary prolactin cell adenoma, Abnormal toenail morph... ORPHA:314769
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Redundant neck skin OMIM:618652
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Hypertrichosis, Contracture of the proximal interphalangeal joint of ... OMIM:618050
Branchiooculofacial Syndrome
Proximal placement of thumb, Short neck, Renal cyst, Premature graying of hair, Gastroesophageal ... OMIM:113620
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract... OMIM:137920
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Sparse eyelashes, Fifth finger distal phalanx clinodactyly, 4-5 finger syndacty... OMIM:257850
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Knee flexion contracture, Inflammation of the large intestine, Rectovaginal fistula, Dy... OMIM:619708
Alström Syndrome
Thoracic scoliosis, Urinary incontinence, Decreased response to growth hormone stimulation test, ... ORPHA:64
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid fe... ORPHA:2769
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Abnormal dental enamel morphology, Recurrent fract... ORPHA:2050
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Scapular winging, Abnormality of hair texture, Hyperlordosis, Hypophosp... ORPHA:73223
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim... OMIM:146255
Neurofibromatosis Type 1
Abnormal hair quantity, Recurrent fractures, Joint stiffness, Precocious puberty, Kyphosis, Crypt... ORPHA:636
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Contractures of the large join... OMIM:617527
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Hydrolethalus Syndrome 1
Omphalocele, Accessory spleen, Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial ha... OMIM:236680
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Low anterior hairline, Gastroesophageal reflux, Dysphagia, Limb hypertonia OMIM:619909
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Reduced bone mineral density, High palate, Dystrophic fingernails, Limitation of ... ORPHA:740
Trisomy 9P
Sacral dimple, Hypoplastic fingernail, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dys... ORPHA:236
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... ORPHA:363958
Amed Syndrome, Digenic
Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Bone marrow hypoc... OMIM:619151
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Dysph... OMIM:128100
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... OMIM:207900
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Abnormal s... ORPHA:3109
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Transient neutropenia, Bowing of the legs, Renal cyst, Macroglossia, Bifid urete... OMIM:617107
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Vacuolated lymphocytes, Neutropenia... OMIM:208400
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... OMIM:167210
Fibromuscular Dysplasia, Multifocal
Soft skin, Joint hypermobility, Hiatus hernia, Atrophic scars, Hyperextensible skin, High palate,... OMIM:619329
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Inguinal hernia, Arachnodactyly, High, narrow palate, Abnormality of connective tissue, Scoliosis ORPHA:91387
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response... ORPHA:1855
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... OMIM:603387
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis OMIM:609541
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Myopathy, Hypoplastic spleen, Anemia OMIM:185070
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Synoph... ORPHA:476126
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ... OMIM:617466
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618117
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastrointestinal dysmotility, Hemivertebrae, Gastroesophageal reflux, Bifid uvula, Absent gallbla... ORPHA:500150
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Coxa valga, Hip dislocation, Osteoporosis, Osteo... OMIM:182250
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, High palate, Scoliosis, Metatarsus ... ORPHA:2479
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Skin ulcer, Fine hair ORPHA:1806
Stickler Syndrome
Retinal detachment, Abnormal vitreous humor morphology ORPHA:828
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:306400
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Cryptorchidism, Spinal canal stenosis, Cleft ... ORPHA:1724
Triosephosphate Isomerase Deficiency
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Kyphosis, Jaundi... OMIM:615512
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Osteomal... OMIM:309000
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair OMIM:614940
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, High palate, Scoliosis OMIM:300676
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo OMIM:240300
Orofaciodigital Syndrome Iii
Hyperconvex nail, Kyphosis, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyl... OMIM:258850
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:617690
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Dysphagia, Limb hypertonia ORPHA:500180
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short nail, Short neck, Kyphosis, Cone-shaped epiphyses of t... ORPHA:420794
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling OMIM:618733
Mend Syndrome
Sacral dimple, Redundant neck skin, Broad hallux, Overlapping toe, Long fingers, Kyphosis, Crypto... OMIM:300960
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:95494
Chand Syndrome
Curly hair, Short fifth metatarsal, Hydroureter, Bifid tongue, Cleft palate, Nail dysplasia, Dry ... ORPHA:1401
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Femoral bowing, Anteriorly place... OMIM:201750
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia OMIM:121270
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Cleft palate, Ante... OMIM:309801
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Short neck, Absent eyelashes, Long fingers... OMIM:256520
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia OMIM:614947
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Macroglossia, Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibility to fractur... OMIM:166220
Revesz Syndrome
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, ... OMIM:268130
Monosomy 9Q22.3
Ovarian fibroma, Rhabdomyosarcoma, Short neck, Kyphosis, Abnormal rib morphology, Joint hyperflex... ORPHA:77301
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Kyphosis, Synophrys, Bilateral camptodactyly, Scoliosis... OMIM:619557
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Naxos Disease
Curly hair, Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Sparse... OMIM:601214
Trisomy 18
Abnormality of retinal pigmentation, Iris coloboma ORPHA:3380
Brachyolmia Type 3
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... OMIM:113500
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Kyphosis, Scoliosis, ... OMIM:211530
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... ORPHA:91500
Down Syndrome
Joint laxity, Redundant neck skin, Sandal gap, Aganglionic megacolon, Protruding tongue, Hypoplas... OMIM:190685
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614866
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Atypical scarring of skin, Joint hyper... ORPHA:60030
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashe... OMIM:258360
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Hyperextensible skin, Recurrent fractures, Joint hypermobility, Dermal translucency OMIM:619120
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Sparse eyeb... ORPHA:457359
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... OMIM:209900
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Brittle hair, Cholangitis, Microvesicular hepatic steatosis, Ragge... OMIM:124000
Rett Syndrome
Skeletal muscle atrophy, Kyphosis, Short foot, Gastroesophageal reflux, Scoliosis OMIM:312750
Alexander Disease
Osteopenia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, High palate, S... ORPHA:58
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Cockayne Syndrome Type 1
Pigmentary retinopathy, Optic atrophy, Hypermelanotic macule ORPHA:90321
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Gastroesophageal reflux, Scoliosis ORPHA:261144
Combined Oxidative Phosphorylation Deficiency 5
Redundant neck skin OMIM:611719
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High pala... ORPHA:284339
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret... ORPHA:79282
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Scoliosis, Finger joint hyperm... OMIM:618493
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Urinary incontinence, Kyphosis, Scoliosis, Lower limb muscle weakness ORPHA:88644
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Scoliosis, Arachnodactyly, Kyphosis OMIM:609008
Ramon Syndrome
Enlarged labia minora, Kyphosis, Narrow palate, Scoliosis, Juvenile rheumatoid arthritis, Hypertr... OMIM:266270
Alkaptonuria
Low back pain, Vertebral fusion, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, L... OMIM:203500
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia OMIM:617914
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Inflammation of the large intestine, Sacroiliac ... OMIM:106300
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Brittle hair, Sacral dimple, Highly ar... OMIM:619539
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... ORPHA:2237
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, High, narrow palate, Synophrys, Abnormal curvature of the vertebral col... OMIM:619475
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy ORPHA:505248
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Hydrocephalus, Congenital, 3, With Brain Anomalies
Redundant neck skin OMIM:617967
Abetalipoproteinemia
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus ORPHA:14
Mend Syndrome
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, Cryptorchidism, 2-3 toe syn... ORPHA:401973
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Clinodactyly, Umbilical hernia, Abnormal number of hair whorls, Redundant neck skin OMIM:618164
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive ... OMIM:251260
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Hyperextensible skin, Scoliosis, Joint hypermobility, Narrow palate ORPHA:555877
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Joint laxity, Kyphoscoliosis, High, narrow palate, Kyphosis, Cryptorchidism, Pinea... OMIM:300967
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis, Joint stiffness ORPHA:702
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Melas
Pigmentary retinopathy, Optic atrophy, Vitiligo ORPHA:550
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Highly arched eyeb... ORPHA:572333
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation ORPHA:466768
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Rectal abscess OMIM:608203
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation ORPHA:175
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Arachnodactyly, Hyperlordosis, Sparse eyebrow, Kyphosis, High palate, Scoliosis OMIM:617011
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Sacral lipoma, Rectal abscess, ... OMIM:600145
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Osteomyelitis, Rectal abscess, Skin ulcer OMIM:116920
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Hyperpigmentation of the skin, Retinal degeneration OMIM:234200
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Cleft palate, Cellulitis, Distichiasis OMIM:153400
Postencephalitic Parkinsonism
Kyphosis, Camptocormia, Dysphagia ORPHA:97349
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy ORPHA:404454
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Anal atresia OMIM:182210
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Erythema, ... OMIM:614748
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, High, narrow palate, Kyphosis, High palate, Scoliosis OMIM:177850
Atelis Syndrome 2
Sacral dimple, Kyphosis, Thrombocytopenia, Gastroesophageal reflux, High palate, Clinodactyly, An... OMIM:620185
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess OMIM:601495
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Tracheomalacia, Kyphosis, Posterior rib gap, Cleft palate, Glossopt... ORPHA:1393
Cardiac Valvular Dysplasia 1
Inguinal hernia OMIM:212093
Bannayan-Riley-Ruvalcaba Syndrome
Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis ORPHA:109
Kosaki Overgrowth Syndrome
Hyperextensible skin, Thoracolumbar scoliosis, Scoliosis OMIM:616592
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm... OMIM:219800
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ... OMIM:300942
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Hy... OMIM:149730
Rett Syndrome, Congenital Variant
Kyphosis, Gastroesophageal reflux, Scoliosis OMIM:613454
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Urinary incontinence, Kyphosis, Gastroesophageal reflux, Scoliosis,... OMIM:619482
Autosomal Recessive Spastic Paraplegia Type 35
Urinary incontinence, Kyphosis, Enuresis nocturna, Pollakisuria, Lower limb hypertonia, Foot dors... ORPHA:171629
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy OMIM:606721
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia ORPHA:3455

Histopathology

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

There is no histopathology data for Efemp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Efemp1.

No publications found that use IMPC mice or data for Efemp1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Efemp1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Efemp1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Efemp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Efemp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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