Gene Summary

Name:
fibroblast growth factor 10
Synonyms:
Gsfaey17,  FGF-10,  AEY17

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Fgf10tm1b(EUCOMM)Wtsi HET Early adult 2.48×10-08
abnormal retina vasculature morphology Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.99×10-08
fused cornea and lens Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.30×10-07
abnormal behavior Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.57×10-06
increased circulating cholesterol level Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 1.01×10-05
abnormal optic disk morphology Fgf10tm1b(EUCOMM)Wtsi HET Early adult 4.16×10-09
decreased grip strength Fgf10tm1b(EUCOMM)Wtsi HET Early adult 6.51×10-05
abnormal lens morphology Fgf10tm1b(EUCOMM)Wtsi HET Early adult 4.32×10-07
persistence of hyaloid vascular system Fgf10tm1b(EUCOMM)Wtsi HET Early adult 4.46×10-07
increased circulating HDL cholesterol level Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.00×10-05
decreased thigmotaxis Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.57×10-06
cataract Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.19×10-07
preweaning lethality, complete penetrance Fgf10tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
corneal opacity Fgf10tm1b(EUCOMM)Wtsi HET Early adult 6.88×10-11
narrow eye opening Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.69×10-23
abnormal cornea morphology Fgf10tm1b(EUCOMM)Wtsi HET Early adult 2.47×10-11
iris synechia Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.05×10-07
decreased leukocyte cell number Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.23×10-06
decreased lean body mass Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 5.61×10-05
abnormal iris pigmentation Fgf10tm1b(EUCOMM)Wtsi HET Early adult 2.82×10-06
abnormal placement of pupils Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.65×10-05
abnormal retina blood vessel morphology Fgf10tm1b(EUCOMM)Wtsi HET Early adult 2.57×10-08
impaired pupillary reflex Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.95×10-10
increased total body fat amount Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 7.96×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 50% (1 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 50% (1 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote 33.33% (1 of 3)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 33.33% (1 of 3)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 3)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Not available
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 33.33% (1 of 3)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Not available
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Not available
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (3 of 3)
Heart N/A heterozygote Not available
Heart N/A homozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 33.33% (1 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 33.33% (1 of 3)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Not available
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 33.33% (1 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 3)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
olfactory lobe 0.17% (1 of 579)
oral epithelium 0.0%
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
uterus 0.35% (2 of 579)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Echo

M-Mode Images

31 Images

MicroCT E14.5-E15.5

Embryo reconstruction

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Fgf10 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 Fgf10 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Choanal atresia, Absent lacrimal punctum, Keratoconjunctivitis sicca, Carious teeth,... ORPHA:2363
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Xerostomia, Carious teeth OMIM:180920
Lacrimoauriculodentodigital Syndrome 3
Widely spaced teeth, Xerostomia, Enamel hypoplasia, Carious teeth OMIM:620193

The table below shows human diseases predicted to be associated to Fgf10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Lynch Syndrome 2
Colon cancer OMIM:609310
Lynch Syndrome 1
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia OMIM:251505
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Deafness, Autosomal Dominant 80
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... OMIM:619274
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pin... ORPHA:3216
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Amelogenesis Imperfecta
Multiple unerupted teeth, Abnormal jaw morphology, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Dentin Dysplasia, Type I
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... OMIM:125400
Coxoauricular Syndrome
Microtia, Hearing impairment OMIM:122780
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Amelogenesis Imperfecta, Type Ij
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite OMIM:617297
Short Stature-Wormian Bones-Dextrocardia Syndrome
Abnormality of the philtrum, Camptodactyly of finger, Long eyelashes, Cryptorchidism, Low-set ear... ORPHA:2863
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... OMIM:225200
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Anteverted nares, Long phi... OMIM:166750
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment OMIM:618915
Branchiootic Syndrome 1
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... OMIM:602588
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Bilateral cleft lip and palate, Ankyloglossia, Bifid nasal tip, Enamel hypoplasia, S... OMIM:618874
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... ORPHA:888
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia OMIM:104530
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Trichomegaly
Cataract, Long eyelashes OMIM:190330
15Q24 Microdeletion Syndrome
Epicanthus, Proximal placement of thumb, Abnormal heart morphology, Hearing impairment, High ante... ORPHA:94065
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Cat Eye Syndrome
Rectal fistula, Epicanthus, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Ventri... OMIM:115470
Tietz Albinism-Deafness Syndrome
Blue irides, Hypopigmentation of the fundus, Generalized hypopigmentation, White eyelashes, White... OMIM:103500
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure, Optic atrophy, Ptosis OMIM:620086
Ulnar-Mammary Syndrome
Delayed puberty, Inguinal hernia, Ventricular septal defect, Hypoplastic nipples, Short 5th finge... OMIM:181450
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Orofaciodigital Syndrome V
High palate, Bifid uvula, Horseshoe kidney, Ankyloglossia, Downslanted palpebral fissures, Agangl... OMIM:174300
Megalocornea
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... OMIM:309300
Tetraamelia Syndrome 2
Micropenis, Ankyloglossia, Cleft palate, Bilateral cleft lip, Glossoptosis, Absent nipple OMIM:618021
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy, Generalized hyperpigmentation ORPHA:2253
Mosaic Trisomy 14
High palate, Cryptorchidism, Prominent nasal bridge, Cleft palate, Hypoplasia of penis, Anteverte... ORPHA:1703
Pendred Syndrome
Enlarged vestibular aqueduct, Abnormality of the inner ear, Vertigo, Hypoplasia of the cochlea, S... ORPHA:705
Bartsocas-Papas Syndrome 1
Oligodactyly, Inguinal hernia, Anonychia, Ambiguous genitalia, Short thumb, Ablepharon, Upslanted... OMIM:263650
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Hip dislocation, Short thumb, Tetralogy of Fallot, Horseshoe kidney, Ventricular se... OMIM:274000
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 1
Cataract, Ectopia pupillae, Hypoplasia of the fovea, Ectopia lentis, Retinal vascular tortuosity,... OMIM:106210
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Tooth agenesis, Protruding ear, Tetralogy of Fallot, Respiratory insufficiency, V... ORPHA:1166
Deafness, Autosomal Dominant 9
Tinnitus, Vertigo, Abnormality of the vestibulocochlear nerve, Cochlear degeneration, Postlingual... OMIM:601369
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Tooth agenesis, Cleft palate, Non-midline cleft lip, Ankyloblepharon ORPHA:1074
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Robinow Syndrome, Autosomal Dominant 1
Epicanthus, Renal duplication, Upslanted palpebral fissure, Narrow palate, Clitoral hypoplasia, B... OMIM:180700
17Q11.2 Microduplication Syndrome
Malar flattening, Enamel hypoplasia, Thick nasal alae, Thin vermilion border, Abnormal dental ena... ORPHA:139474
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Umbilical hernia, Absent lacrimal punctum, Upslanted palpebral fissure, High, nar... OMIM:273390
Burning Mouth Syndrome
Parageusia, Strawberry tongue, Xerostomia, Tongue pain, Abnormality of taste sensation, Burning m... ORPHA:353253
Focal Dermal Hypoplasia
Aplasia/Hypoplasia of the lungs, Inguinal hernia, Camptodactyly of finger, Tooth agenesis, Ventri... ORPHA:2092
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Cataract 9, Multiple Types
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Microphthalmia, Syndromic 16
Anophthalmia, Ankyloblepharon, Sclerocornea, Microphthalmia OMIM:611038
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrupted aortic arch, Pa... ORPHA:2255
De Barsy Syndrome
Recurrent sinopulmonary infections, Inguinal hernia, Epicanthus, Ventricular septal defect, Hypop... ORPHA:2962
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Palmar hyperhidrosis, Enamel hypoplasia, Oral mucosal blisters, Hypodont... OMIM:226650
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Retinal nonattachment, Iris hypopigmentation, Vitelliform-like macular lesions ORPHA:99000
Emanuel Syndrome
Inguinal hernia, Ventricular septal defect, Atrial septal defect, Upslanted palpebral fissure, He... OMIM:609029
Oligodontia
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Cataract 50 With Or Without Glaucoma
Cataract, Retinal detachment, Persistent pupillary membrane OMIM:620253
Tonne-Kalscheuer Syndrome
Decreased testicular size, Cryptorchidism, Micropenis, Malar flattening, Fine hair, Pulmonary hyp... OMIM:300978
Diethylstilbestrol Syndrome
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... ORPHA:1916
Fontaine Progeroid Syndrome
Oligodontia, Anonychia, Short distal phalanx of finger, Hypoplasia of the abdominal wall musculat... OMIM:612289
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Death in childhood, Low-set ears, Cryptorchidism, Coarctation of aorta, Micropenis, Shawl scrotum... OMIM:600460
16P11.2P12.2 Microduplication Syndrome
Cleft palate, Hypospadias ORPHA:261204
Pai Syndrome
Encephalocele, Midline defect of the nose, Bifid uvula, Nasal polyposis, Downslanted palpebral fi... ORPHA:1993
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Atri... OMIM:208540
Spastic Ataxia-Corneal Dystrophy Syndrome
Gait disturbance, Ataxia, Corneal dystrophy, Spastic ataxia, Developmental cataract, Optic atrophy ORPHA:2572
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Long fingers, Highly arched... OMIM:618316
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Inguinal hernia, Hypoplastic radial head, Proximal placement of thumb,... OMIM:122470
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair, Macular hypoplasia OMIM:606574
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Low-set ears, Epicanthus, Enlarged kidney, Abnormal pinna morphology, ... OMIM:200995
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy, Abnormality of skin pigmentation OMIM:300719
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Esophageal atresia, Anal atresia, Hand polydactyly, Absent radius, Enlarged kidne... OMIM:314390
Emanuel Syndrome
Inguinal hernia, Tooth malposition, Bifid uvula, Ventricular septal defect, Atrial septal defect,... ORPHA:96170
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Posterior embryotoxon, Chorioretinal coloboma, Corne... ORPHA:1473
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Epicanthus, Upslanted palpebral fissure, Microphthalmia, Microcornea ORPHA:2528
Variant Abeta2M Amyloidosis
Abnormal skeletal muscle morphology, Chronic kidney disease, Abnormal salivary gland morphology, ... ORPHA:314652
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation o... OMIM:126070
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor, Tremor OMIM:165300
Shaheen Syndrome
Hypohidrosis, Enamel hypoplasia, Carious teeth OMIM:615328
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
Intellectual Disability, Wolff Type
Camptodactyly of finger, Inguinal hernia, Cryptorchidism, Abnormal intestine morphology, Short di... ORPHA:3080
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Ventricular septal defect, Atrial septal defect, Upslanted palpebral fis... OMIM:617602
Kilquist Syndrome
Midgut malrotation, Gastroesophageal reflux, Chronic constipation, Hypoplasia of teeth, Xerostomi... OMIM:619080
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Ventricular septal defect, Polysyndactyly of ha... OMIM:263520
Microphthalmia, Syndromic 12
Cryptorchidism, Retrognathia, Ventricular septal defect, Pulmonary hypoplasia, Micrognathia, Clef... OMIM:615524
Duane-Radial Ray Syndrome
Epicanthus, Short thumb, Ventricular septal defect, Horseshoe kidney, Aplasia of metacarpal bones... OMIM:607323
Czeizel-Losonci Syndrome
Hypoplastic nipples, Upslanted palpebral fissure, Single transverse palmar crease, Hydronephrosis... ORPHA:2437
Restrictive Dermopathy
Camptodactyly of finger, Skin erosion, Atrial septal defect, Entropion, Aplasia/Hypoplastia of th... ORPHA:1662
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Increased incisura length, Stenosis of the external auditory canal, Ove... OMIM:612290
Oliver-Mcfarlane Syndrome
Small for gestational age, Long eyelashes, Central heterochromia, Pigmentary retinopathy, Periphe... OMIM:275400
Phocomelia, Schinzel Type
Protruding ear, Cleft palate, Micromelia, Fibular aplasia, Radial bowing, Hypoplasia of the radiu... ORPHA:2879
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Choanal atresia, Absent lacrimal punctum, Keratoconjunctivitis sicca, Carious teeth,... ORPHA:2363
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Epicanthus, Bifid uvula, Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defect... OMIM:617506
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Broad nasal tip, Hypohidrosis, Enamel hypoplasia, Carious teeth, Thick vermilion border ORPHA:363523
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Nasal polyposis, Median cleft lip, Midline central nervous system lipomas OMIM:155145
Griscelli Syndrome Type 1
Iris hypopigmentation, Ataxia, Premature graying of hair, White hair, Hyperlipidemia, Partial alb... ORPHA:79476
Riboflavin Transporter Deficiency
Iris hypopigmentation, Abnormal cranial nerve morphology, Ataxia, Optic disc pallor, Abnormal aut... ORPHA:97229
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Recurrent respiratory infections, Abnormal long bone morphology, Short toe, Abnorma... OMIM:259270
Acrofacial Dysostosis 1, Nager Type
Absent lower eyelashes, Hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Cleft pa... OMIM:154400
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Nephrolithiasis, Palmoplantar keratoderma, Hypo... ORPHA:1816
48,Xxyy Syndrome
Chronic otitis media, Inguinal hernia, Epicanthus, Hip dysplasia, Upslanted palpebral fissure, Cl... ORPHA:10
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Xerostomia, Carious teeth OMIM:180920
Lowry-Maclean Syndrome
Inguinal hernia, Atrioventricular canal defect, Cleft palate, Abnormality of the abdominal organs... ORPHA:2409
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridg... ORPHA:1355
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Ataxia, Corneal opacity, Corneal dystrophy ORPHA:3177
Intellectual Disability-Strabismus Syndrome
Epicanthus, Atrial septal defect, Upslanted palpebral fissure, Rocker bottom foot, Hearing impair... ORPHA:363528
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Cryptorchidism, Short thumb, Ventricular septal defect, Synophrys, Ecto... ORPHA:401935
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Intellectual Developmental Disorder, Autosomal Dominant 29
Open mouth, Cryptorchidism, High palate, Synophrys, Ankyloglossia, Downslanted palpebral fissures... OMIM:616078
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Cutis Laxa, Autosomal Recessive, Type Iiib
Narrow palpebral fissure, Dermal translucency, Cryptorchidism, Inguinal hernia, Hip dislocation, ... OMIM:614438
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Inguinal hernia, Corneal guttata, Corneal dystrophy, Keratoconus OMIM:609141
Vacterl/Vater Association
Tracheal stenosis, Aplasia/Hypoplasia of the lungs, Abnormal morphology of female internal genita... ORPHA:887
Chromosome 15Q25 Deletion Syndrome
Low-set ears, Cryptorchidism, Inguinal hernia, Dextrocardia, Ventricular septal defect, Synophrys... OMIM:614294
Teebi Hypertelorism Syndrome 2
High palate, Broad nasal tip, Upper eyelid coloboma, Short nose, Microdontia, Thick eyebrow, Clef... OMIM:619736
Rapp-Hodgkin Syndrome
Bifid uvula, Onychogryposis, Absent lacrimal punctum, Hearing impairment, Cleft palate, Narrow mo... OMIM:129400
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Marden-Walker Syndrome
Inguinal hernia, Epicanthus, Cleft palate, Narrow mouth, Blepharophimosis, Joint contracture of t... OMIM:248700
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus, Thick eyebrow,... ORPHA:572333
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Epicanthus, Agenesis of permanent teeth, Ankyloglossia, Cleft palate... OMIM:311200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Anophthalmia, Microphthalmia ORPHA:85275
Phenylketonuria
Blue irides, Cataract, Self-mutilation, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Ge... OMIM:261600
Dentinogenesis Imperfecta
Grayish enamel, Abnormal dental pulp morphology, Selective tooth agenesis, Fragile teeth, Persist... ORPHA:49042
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmen... OMIM:619165
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Hip dislocation, Tetralogy of Fallot, Horseshoe kidney, Nevus flammeus... ORPHA:3320
Meier-Gorlin Syndrome 8
Low-set ears, Microtia OMIM:617564
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis, Ectopia lentis, Increased axial length of the globe OMIM:110150
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Astigmatism, Enamel hypoplasia, Scarring alopecia of scalp, Unilatera... OMIM:618727
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia, Iris coloboma, Microcoria OMIM:616428
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Opitz Gbbb Syndrome
Ankyloglossia, Cleft palate, Hydronephrosis, Cryptorchidism, Wide nasal bridge, Bicornuate uterus... ORPHA:2745
Autosomal Recessive Robinow Syndrome
Epicanthus, Ankyloglossia, Upslanted palpebral fissure, Supernumerary tooth, Bifid tongue, Multic... ORPHA:1507
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... OMIM:125500
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Usher Syndrome Type 3
Cataract, Iris hypopigmentation, Ataxia, Astigmatism, Anxiety, Depression ORPHA:231183
Holoprosencephaly 9
Single naris, Cryptorchidism, Micropenis, Bilateral cleft lip and palate, Short hard palate, Ante... OMIM:610829
Charge Syndrome
Aplasia/Hypoplasia of the thymus, Delayed puberty, Secundum atrial septal defect, Right aortic ar... OMIM:214800
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Barber-Say Syndrome
Hypoplastic nipples, Widely spaced teeth, Hearing impairment, Sparse eyebrow, Thin vermilion bord... OMIM:209885
Fanconi Anemia, Complementation Group D2
Renal duplication, Short thumb, Horseshoe kidney, Reticulocytopenia, Abnormal heart morphology, H... OMIM:227646
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Postorgasmic Illness Syndrome
Abnormality of the nose, Xerostomia, Hyperhidrosis ORPHA:279947
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Hepatomegaly, Rocker bottom foot, Hearing impairment, Hirsutism, Large... OMIM:301056
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Epicanthus, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Prote... OMIM:235510
Dextrocardia
Situs inversus totalis, Abnormal renal morphology, Congenital malformation of the great arteries,... ORPHA:1666
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Ab... ORPHA:85167
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Microphthalmia OMIM:614497
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Abnormal morphology of female internal genitalia, Morphological ... ORPHA:1834
Fanconi Anemia, Complementation Group B
Low-set ears, Esophageal atresia, Coarctation of aorta, Micropenis, Hypogonadism, Tracheoesophage... OMIM:300514
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Retinal detachment, Corneal opac... OMIM:610202
Lipoid Proteinosis
High palate, Nasal polyposis, Tongue nodules, Abnormal oral mucosa morphology, Microglossia, Abno... ORPHA:530
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
48,Xyyy Syndrome
High palate, Irregularly spaced teeth, Enamel hypoplasia, Long philtrum, Recurrent upper respirat... ORPHA:99329
Roberts-Sc Phocomelia Syndrome
Polycystic kidney dysplasia, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, E... OMIM:268300
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Duane Retraction Syndrome
Hearing impairment, Cleft palate, Short palpebral fissure, Preaxial hand polydactyly, Hypoplasia ... ORPHA:233
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
2Q37 Microdeletion Syndrome
Upslanted palpebral fissure, Highly arched eyebrow, Abnormal aortic morphology, Sparse eyebrow, T... ORPHA:1001
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Metaphyseal irregularity, Hypoplastic pelvis, Cone-shaped epiphyses of the p... OMIM:208500
Wiedemann-Steiner Syndrome
Epicanthus, Rhizomelia, Thick eyebrow, Abnormality of the hand, Short palpebral fissure, Dilatati... ORPHA:319182
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Solitary median maxillary central incisor, Hearing impairment, Toe syn... ORPHA:217346
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Epicanthus, Protruding ear, Internal hemorrhage, Macule, Sleep apnea, Transient ... ORPHA:286
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Synophrys, Abnormal palate morphology, Convex nasal ridge, Hypospadias ORPHA:2261
Usher Syndrome Type 1
Cataract, Iris hypopigmentation, Ataxia, Anxiety, Abnormal dental enamel morphology, Depression ORPHA:231169
Hadziselimovic Syndrome
Low-set ears, Pulmonary artery atresia, Anal atresia, High palate, Epicanthus, Tetralogy of Fallo... OMIM:612946
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Johanson-Blizzard Syndrome
Oligodontia, Diabetes mellitus, Malabsorption, Absent lacrimal punctum, Hydronephrosis, Alopecia,... ORPHA:2315
Rubinstein-Taybi Syndrome 2
Epicanthus, Thick eyebrow, Highly arched eyebrow, Narrow palate, Broad thumb, Hirsutism, Carious ... OMIM:613684
Trisomy 8Q
High palate, Cryptorchidism, Myelomeningocele, Upslanted palpebral fissure, Cleft palate, Hypopla... ORPHA:1752
N Syndrome
Cryptorchidism, Abnormal eyelid morphology, Hypospadias ORPHA:2608
Craniofrontonasal Dysplasia
Congenital pseudoarthrosis of the clavicle, Camptodactyly of finger, Brachydactyly, Down-sloping ... ORPHA:1520
Fryns Syndrome
Short distal phalanx of finger, Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Mu... ORPHA:2059
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, U-Shaped upper lip vermilion, Anteverted nares, Hypoplasia of the primary teet... OMIM:234250
Stickler Syndrome Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy ORPHA:90654
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Stroke, Hip dysplasia, Atelectasis, Carious teeth, Mitral valve prolapse... ORPHA:536467
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Oligodontia, Inguinal hernia, Selective tooth agenesis, Hypoplastic nipples, Hydroureter, Cleft p... OMIM:129900
Floating-Harbor Syndrome
Nephrocalcinosis, Glandular hypospadias, Carious teeth, Hydronephrosis, Cryptorchidism, Long eyel... OMIM:136140
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Hip dysplasia, Dysplastic pulmonary valve, Thin long bone diaphyses, Ent... ORPHA:3455
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Trisomy 4P
Cryptorchidism, Abnormal palate morphology, Abnormality of the dentition, Thick eyebrow, Smooth p... ORPHA:1738
Robinow Syndrome
Broad nasal tip, Tooth malposition, Ankyloglossia, Clitoral hypoplasia, Bifid tongue, Broad alveo... ORPHA:97360
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Igg4-Related Submandibular Gland Disease
Abnormality of the submandibular glands, Abnormal salivary gland morphology, Periorbital edema, X... ORPHA:449432
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Aplasia/Hypop... ORPHA:1067
1Q21.1 Microdeletion Syndrome
Hydronephrosis, High palate, Cryptorchidism, Epicanthus, Ankyloglossia, Long philtrum, Wide nasal... ORPHA:250989
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... OMIM:301200
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Deafness, X-Linked 2
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... OMIM:304400
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Intestinal Botulism
Dysphagia, Xerostomia, Diarrhea ORPHA:178481
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144300
Meier-Gorlin Syndrome 1
Hearing impairment, Cleft palate, Narrow mouth, Short palpebral fissure, Aplasia/Hypoplasia of th... OMIM:224690
Trisomy 1Q
Camptodactyly of finger, Ambiguous genitalia, Ventricular septal defect, Cleft palate, Narrow mou... ORPHA:261344
Mosaic Trisomy 9
Camptodactyly of finger, Hip dislocation, Asplenia, Ventricular septal defect, Horseshoe kidney, ... ORPHA:99776
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Cataract 42
Cataract, Developmental cataract OMIM:115900
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Colon cancer, Adenomatous colonic polyposis, Juvenile colonic pol... OMIM:610069
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Diabetes mellitus, Hepatomegaly, Hypertrophic cardiomyopathy, Aplasia/Hypoplasia ... ORPHA:2348
Amelogenesis Imperfecta, Type If
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
49,Xxxxy Syndrome
Chronic otitis media, Epicanthus, Hip dislocation, Upslanted palpebral fissure, Cleft palate, Car... ORPHA:96264
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, Cryptophthalmos, Epicanthus, Long eyelashes, Sclerocornea, Microcorne... OMIM:615877
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Epicanthus, Abnormal heart morphology, Smooth philtrum, Metaphyseal ... OMIM:263210
Oculocutaneous Albinism Type 1
Blue irides, Hypoplasia of the fovea, Depigmented fundus, Iris hypopigmentation, Generalized hypo... ORPHA:352731
48,Xxxy Syndrome
Chronic otitis media, Inguinal hernia, Hip dislocation, Epicanthus, Upslanted palpebral fissure, ... ORPHA:96263
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Elbow ankylosis, Anonychia, Aplasia/Hypoplasia of met... OMIM:276820
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Seckel Syndrome 5
Oligodontia, Cryptorchidism, High palate, Selective tooth agenesis, Prominent nasal bridge, Clito... OMIM:613823
Pearson Syndrome
Median cleft lip and palate, Diabetes mellitus, Hypoparathyroidism, Cardiomyopathy, Hepatomegaly,... ORPHA:699
Degcags Syndrome
Dysplastic pulmonary valve, Ambiguous genitalia, Abnormal eyebrow morphology, Abnormal spleen mor... OMIM:619488
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Abnormal retinal vascular morphology, Synophrys, Downslanted palpebral fissures, Hete... ORPHA:1390
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Epicanthus, Narrow mouth, Sparse eyebrow, Sparse scalp hair, Lipodystrophy, Cryptorchidism, Pulmo... ORPHA:75496
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Multiple unerupted teeth, Aplasia/Hypoplasia of the lungs, Inguinal hernia, Cryptorchidism, Anal ... ORPHA:2063
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Anteverted ears, Microtia, first degree, Aplasia of th... OMIM:610706
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Oral leukoplakia, Gingival bleeding, Abnormality of the dentition, Abnormal... ORPHA:2907
Deafness, X-Linked 5, With Peripheral Neuropathy
Tinnitus, Abnormal middle ear reflexes, Hearing impairment, Abnormal speech discrimination, Verti... OMIM:300614
8P23.1 Microdeletion Syndrome
Epicanthus, Hypoplastic left heart, Tetralogy of Fallot, Proximal placement of thumb, Atrioventri... ORPHA:251071
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia OMIM:612138
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Epicanthus, Cleft palate, Hypothyroidism, Cryptorchidism, Abnormality of fibula ... ORPHA:1812
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Gingival bleeding, Epicanthus, Frontal open bite, Short toe, Hirsutism, Short ph... OMIM:225410
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth OMIM:104510
Abruzzo-Erickson Syndrome
Cleft palate, Hypospadias OMIM:302905
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Abnormal eyebrow morphology, Diabetes mellitus,... ORPHA:1775
Distal Deletion 6P
Ectopia pupillae, Epicanthus, Downslanted palpebral fissures, Abnormal anterior chamber morpholog... ORPHA:96125
Igg4-Related Thyroid Disease
Graves disease, Goiter, Tracheal stenosis, Abnormality of the pituitary gland, Nodular goiter, Ha... ORPHA:64744
Intellectual Developmental Disorder, Autosomal Recessive 44
Shawl scrotum, Bifid uvula, Anteverted nares, Long philtrum, Thin vermilion border, Depressed nas... OMIM:615942
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Hip dislocation, Epicanthus, Hypoplastic nipples, Rocker bottom foot, Cleft pala... OMIM:265000
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Inflammation of the large intestine, Decr... OMIM:232220
Erythermalgia, Primary
Constipation, Xerostomia, Diarrhea, Hyperhidrosis OMIM:133020
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Thick vermilion border, Dermal transluce... OMIM:137940
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Microphallus, Testicular dysgenesis, C... OMIM:615542
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Conical tooth, Hypoplastic nipples, Xerostomia, Everted lower lip vermilion, Hypodontia, Anhidros... OMIM:614941
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Epicanthus, Bifid uvula, Cholestasis, Widely spaced teeth, Short metatarsal, Hepatomegaly, Rhizom... OMIM:266920
Rhyns Syndrome
Hypopituitarism, Hypoplastic ilia, Abnormal long bone morphology, Abnormality of the liver, Nephr... ORPHA:140976
Cerebrocostomandibular Syndrome
High palate, Epicanthus, Anteriorly placed anus, Short hard palate, Cleft lip, Renal cyst, Horses... OMIM:117650
Cerebrocostomandibular Syndrome
Spina bifida, Short hard palate, Hydranencephaly, Myelomeningocele, Meningocele, Cleft palate, Gl... ORPHA:1393
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long eyelashes, Coarctation of aorta, Cryptorchidism, Epicanthus, Atrial septal def... OMIM:615502
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Horner Syndrome, Congenital
Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Micropenis, Bifid uvula, Umbilical hernia, Broad philtrum, Downslanted palpebral ... ORPHA:2872
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Ulnar deviation of the 3rd finger, Shawl scrotum, Hip dislocation, Proximal plac... OMIM:616263
Zaki Syndrome
Long fingers, Toe syndactyly, Hypoplasia of the phalanges of the toes, Sparse eyebrow, Cupped ear... OMIM:619648
Lacrimoauriculodentodigital Syndrome 3
Widely spaced teeth, Xerostomia, Enamel hypoplasia, Carious teeth OMIM:620193
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Broad nasal tip, Epicanthus, Ankyloglossia, Widely spaced teeth, Thick eyebrow, Upslanted palpebr... OMIM:619950
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Woolly Hair
Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Sparse lateral eyebrow, Hypopig... ORPHA:170
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Microphthalmia, Posterior embryotoxon, Axenfeld anomaly OMIM:609218
Liver Disease, Severe Congenital
Peritonitis, Inguinal hernia, Epicanthus, Status asthmaticus, Ventricular septal defect, Atrial s... OMIM:619991
Meckel Syndrome
Situs inversus totalis, Ambiguous genitalia, Asplenia, Urethral atresia, Cleft palate, Preaxial h... ORPHA:564
Cleft Palate-Large Ears-Small Head Syndrome
Cleft palate, Gingival overgrowth, Ptosis, Hypospadias ORPHA:2013
Schimke Immuno-Osseous Dysplasia
Stroke, Transient ischemic attack, Hypoplastic pelvis, Abnormal femoral head morphology, Proteinu... ORPHA:1830
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Stillbirth, Abnorma... ORPHA:294975
Wagner Vitreoretinopathy
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... OMIM:143200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short distal phalanx of finger, Epicanthus, Atrial septal defect, Cleft palate, Cupped ear, Thin ... OMIM:614080
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Glandular hypospadias, Bifid sc... ORPHA:456328
Developmental Delay With Or Without Dysmorphic Facies And Autism
Inguinal hernia, Epicanthus, Ventricular septal defect, Upslanted palpebral fissure, Hearing impa... OMIM:618454
Abruzzo-Erickson Syndrome
Cryptorchidism, Abnormal palate morphology, Epicanthus, Cleft palate, Coronal hypospadias, Abnorm... ORPHA:921
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Epicanthus, Bifid uvula, Ankyloglossia, Hypoplastic nipples, Bilateral choanal atresia, Choanal a... OMIM:620186
Mosaic Trisomy 1
Camptodactyly of finger, Short upper lip, Ventricular septal defect, Rocker bottom foot, Cleft pa... ORPHA:1692
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Cleft palate, Microglossia, Diaphyseal thickening, Sparse hair, Cutaneous finger... OMIM:151050
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Fg Syndrome Type 1
Inguinal hernia, Atrial septal defect, Small pituitary gland, Cupped ear, Single transverse palma... ORPHA:93932
Xp22.13P22.2 Duplication Syndrome
High palate, Polycystic ovaries, Umbilical hernia, Mandibular prognathia, Downslanted palpebral f... ORPHA:284180
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia OMIM:120433
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Prominent nose, Flexion contracture, Generalized hypoplasia of dental enamel, Carious teeth OMIM:203550
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Re... ORPHA:284454
3-Methylglutaconic Aciduria Type 4
Cataract, Thrombocytopenia, Iris hypopigmentation, Failure to thrive ORPHA:67048
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Bifid uvula, Flattened epiphysis, Webbed neck, Short phalanx of finger, ... OMIM:612350
Coffin-Siris Syndrome 3
Macroglossia, High palate, Long eyelashes, Inguinal hernia, Umbilical hernia, Thick eyebrow, Dela... OMIM:614608
Floating-Harbor Syndrome
Polycystic kidney dysplasia, Oligodontia, Broad nasal tip, Nephrocalcinosis, Carious teeth, Hydro... ORPHA:2044
Diamond-Blackfan Anemia 11
Unilateral radial aplasia, Eyelid coloboma, Bone marrow hypocellularity, Unilateral renal agenesi... OMIM:614900
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Mulibrey Nanism
Hypoplastic frontal sinuses, Hydrops fetalis, Enamel hypoplasia, Dental crowding, Absent frontal ... OMIM:253250
Lacrimoauriculodentodigital Syndrome 1
Absent lacrimal punctum, Carious teeth, Coronal hypospadias, Nasolacrimal duct obstruction, Hypop... OMIM:149730
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Smith-Lemli-Opitz Syndrome
Tracheal stenosis, Epicanthus, Tooth agenesis, Hip dislocation, Ambiguous genitalia, Proximal pla... ORPHA:818
Chromosome 16Q22 Deletion Syndrome
High palate, Cryptorchidism, Epicanthus, Upslanted palpebral fissure, Short palpebral fissure, Hi... OMIM:614541
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Joubert Syndrome 26
Micropenis, Cleft lip, Decreased response to growth hormone stimulation test, Cleft palate, Antev... OMIM:616784
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Ataxia, Sensory axonal neuropathy, Bilateral ptosis, Optic atrophy, Depression ORPHA:329314
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Dilated vestibule of the inner ear, Sensorineural hearing i... OMIM:611584
Birdshot Chorioretinopathy
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... ORPHA:179
Ulnar-Mammary Syndrome
Delayed puberty, Camptodactyly of finger, Absent hand, Short distal phalanx of finger, Abnormalit... ORPHA:3138
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... OMIM:303110
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, High palate, Abnormality of the dentition, Eruption failure, Epicanthu... ORPHA:476126
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Epicanthus, Thick eyebrow, Hearing impairment, Hirsutism, Single transverse ... ORPHA:466950
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Abnormal antih... ORPHA:79113
Branchiootorenal Syndrome 1
Conductive hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibular a... OMIM:113650
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Retrognathia, Enamel hypoplasia OMIM:617915
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Micropenis, Selective tooth agenesis, Vaginal dryness, Supernumerary nipple, Widel... OMIM:106260
Robinow Syndrome, Autosomal Dominant 3
Epicanthus, Agenesis of permanent teeth, Ventricular septal defect, Hypoplastic right heart, Upsl... OMIM:616894
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes, Macular degeneration, Anxiety, Loss of ambulation, Retinal dege... OMIM:204200
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis, Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Scle... OMIM:604229
Coffin-Siris Syndrome 1
Inguinal hernia, Anonychia, Facial hypertrichosis, Short distal phalanx of the 5th toe, Tetralogy... OMIM:135900
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Inguinal hernia, Atelectasis, Morgagni diaphragmatic hernia, Patent foramen o... OMIM:613177
Eec Syndrome
Tooth agenesis, Proximal placement of thumb, Entropion, Thick eyebrow, Urethral atresia, Cleft pa... ORPHA:1896
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Widely spaced teeth, Upslanted palpebral fissure, Cleft palate, Sparse... OMIM:612530
Waardenburg Syndrome, Type 4A
Blue irides, Ataxia, Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon... OMIM:277580
Spondylodysplastic Ehlers-Danlos Syndrome
Inguinal hernia, Hip dysplasia, Atrial septal defect, Abnormality of the temporomandibular joint,... ORPHA:536471
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Chorioretinal colob... ORPHA:137902
Prune Belly Syndrome
Anal atresia, Cryptorchidism, Oligohydramnios, Xerostomia OMIM:100100
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Epicanthus, Hip dysplasia, Widely spaced teeth, Thick eyebrow, La... OMIM:619293
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anteverted nares, Midline defect of the nose, Ptosis, Short hard palate ORPHA:1969
Iatrogenic Botulism
Dysphagia, Xerostomia, Constipation ORPHA:254509
Intermediate Uveitis
Cataract, Vitreous floaters, Optic neuritis, Vitreous haze, Vitreous snowballs, Epiretinal membra... ORPHA:279914
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Cryptorchidism, Abnormal palate morphology, Hypoplasia of penis, Hypospadias ORPHA:1381
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Holoprosencephaly
Aplasia/Hypoplasia of the lungs, Abnormal pulmonary valve morphology, Tooth agenesis, Epicanthus,... ORPHA:2162
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, White ... OMIM:613265
Bardet-Biedl Syndrome 18
Cataract, Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Abnormal pupil morphology, Decreased nerve conduction velocity, Periph... ORPHA:101082
Norrie Disease
Cataract, Retinal detachment, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Reti... OMIM:310600
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Diabetes mellitus, Proximal upper limb muscle hypertrophy, Hepatomegaly, Supraventricular arrhyth... ORPHA:280365
Progressive Hemifacial Atrophy
Ptosis, Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Microphthalmia, Isolated, With Coloboma 5
Bilateral microphthalmos, Anophthalmia, Iris coloboma, Microphthalmia OMIM:611638
Microtia
Abnormal pinna morphology, Hypoplastic helices, Atresia of the external auditory canal, Anotia, M... ORPHA:83463
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Inguinal hernia, Epicanthus, Enlarged kidney, Duplication of rena... OMIM:312870
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Epicanthus, Astigmatism, Downslanted palpebral fissures, Retin... OMIM:152950
Microtia With Meatal Atresia And Conductive Deafness
Aplasia/Hypoplasia of the middle ear, Anotia, Conductive hearing impairment, Microtia OMIM:251800
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Oligodontia, Epicanthus, Enlarged kidney, Polydactyly, Atrial septal defect, A... OMIM:615873
Peutz-Jeghers Syndrome
Multiple renal cysts, Abnormal pigmentation of the oral mucosa, Macule, Rectal prolapse, Cervix c... ORPHA:2869
Gracile Bone Dysplasia
Ankyloglossia, Micropenis OMIM:602361
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Low-set ears, Cryptorchidism, Coarctation of aorta, Micropenis, High palate, Dextrocardia, Synoph... OMIM:618929
8P Inverted Duplication/Deletion Syndrome
Abnormality of dental eruption, Hip dislocation, Tetralogy of Fallot, Abnormal heart morphology, ... ORPHA:96092
Coxoauricular Syndrome
Microtia, Atresia of the external auditory canal, Hearing impairment ORPHA:1508
Dubowitz Syndrome
Epicanthus, Protruding ear, Malabsorption, Hypoparathyroidism, Acute lymphoblastic leukemia, Hear... ORPHA:235
Waardenburg Syndrome, Type 4C