Gene Summary

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

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
increased circulating HDL cholesterol level Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.00×10-05
abnormal behavior Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.94×10-06
preweaning lethality, complete penetrance Fgf10tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased grip strength Fgf10tm1b(EUCOMM)Wtsi HET Early adult 6.51×10-05
increased total body fat amount Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 2.51×10-05
decreased thigmotaxis Fgf10tm1b(EUCOMM)Wtsi HET Early adult 1.94×10-06
increased circulating cholesterol level Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 1.01×10-05
hypoactivity Fgf10tm1b(EUCOMM)Wtsi HET Early adult 2.65×10-08
decreased leukocyte cell number Fgf10tm1b(EUCOMM)Wtsi HET Early adult 3.23×10-06
decreased lean body mass Fgf10tm1b(EUCOMM)Wtsi HET   Early adult 5.69×10-05

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)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Echo

M-Mode Images

31 Images

Adult LacZ

LacZ Images Wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 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.

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 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia OMIM:251505
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Cranial Nerves, Congenital Paresis Of
Facial palsy, Abnormality of the pinna OMIM:218100
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Camptodactyly of finger, Midshaft hypospadias, Delayed eruption of teeth, Abnorma... ORPHA:2863
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
15Q24 Microdeletion Syndrome
Cryptorchidism, Narrow mouth, Broad eyebrow, Congenital diaphragmatic hernia, Downslanted palpebr... ORPHA:94065
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Glossoptosis, Micropenis, Bilateral cleft lip OMIM:618021
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Narrow mouth, Short nose, Depressed nasal ridge, Hypospadias, An... ORPHA:1355
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Deviated nasal septu... ORPHA:139474
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Ankyloble... OMIM:263650
Intellectual Disability, Wolff Type
Cryptorchidism, Camptodactyly of finger, Abnormality of the nail, Broad thumb, Bulbous nose, Thic... ORPHA:3080
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Short finger, Short toe, Abnormality of pelvic girdle bone m... OMIM:259270
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Micr... ORPHA:1166
Emanuel Syndrome
Cryptorchidism, Congenital hip dislocation, Dental crowding, Patent ductus arteriosus, Broad jaw,... OMIM:609029
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Ulnar-Mammary Syndrome
Sparse axillary hair, Anterior pituitary hypoplasia, Short 4th toe, Delayed puberty, Absent radiu... OMIM:181450
Fontaine Progeroid Syndrome
Cryptorchidism, Oligodontia, Narrow mouth, Mandibular prognathia, Scrotal hypoplasia, Patent duct... OMIM:612289
Tonne-Kalscheuer Syndrome
Cryptorchidism, Broad thumb, Narrow mouth, Downturned corners of mouth, Congenital diaphragmatic ... OMIM:300978
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Anemia, Phocomeli... OMIM:274000
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Decreased testicular size, Open mouth, Hypospadias OMIM:300997
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Ankyloblepharon, Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Mosaic Trisomy 14
Cryptorchidism, Blepharophimosis, Wide mouth, Wide nasal bridge, Hypospadias, Ectopic anus, Ptosi... ORPHA:1703
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Acrofacial Dysostosis 1, Nager Type
Atresia of the external auditory canal, Patent ductus arteriosus, Bicornuate uterus, Absent radiu... OMIM:154400
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
De Barsy Syndrome
Cryptorchidism, Congenital hip dislocation, Narrow mouth, Thin skin, Cutis laxa, Patent ductus ar... ORPHA:2962
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Narrow palate, Downturned corners of mouth, Dental crowding, Clitoral hypoplasia,... OMIM:180700
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Focal Dermal Hypoplasia
Open bite, Abnormal dental enamel morphology, Thin skin, Split hand, Patent ductus arteriosus, Om... ORPHA:2092
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Convex nasal ridge, Carious teeth OMIM:614564
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Hypoplastic helices, Ventricular septal defect, Absent pulmonary artery, Split ha... OMIM:600460
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Cornelia De Lange Syndrome 1
Cryptorchidism, Downturned corners of mouth, Hirsutism, Choanal atresia, Pneumonia, Vesicouretera... OMIM:122470
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Scrotal hypoplasia, Patent ductus arteriosus... OMIM:618454
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Emanuel Syndrome
Cryptorchidism, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Cough, Patent d... ORPHA:96170
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibrosi... OMIM:263520
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Short nose, Enlarged kidney, Cystic renal dysplasia, Polysplenia, Hyp... OMIM:200995
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Microphthalmia, Isolated 3
Ankyloblepharon, Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Restrictive Dermopathy
Arthrogryposis multiplex congenita, Sparse eyebrow, Narrow mouth, Skin erosion, Short umbilical c... ORPHA:1662
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Patent ductus arteriosus, Congenital hypothyroidism, Pancreatic hypoplasi... ORPHA:2255
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hypohidrosis, Carious teeth, Thick vermilion border, Broad nasal tip, Recurren... ORPHA:363523
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Duplicated lacrimal punctum, Punctal stenosis, Elevated circulating luteinizing hormone level, Bl... ORPHA:572333
Lowry-Maclean Syndrome
Downturned corners of mouth, Choanal atresia, Congenital diaphragmatic hernia, Downslanted palpeb... ORPHA:2409
Phocomelia, Schinzel Type
Cryptorchidism, Abnormality of tibia morphology, High, narrow palate, Micrognathia, Ectrodactyly,... ORPHA:2879
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Bulbous nose, Mandibular prognathia, Wide nasal bridge, Malar flattening, High... OMIM:600991
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Phocomelia, High palate, Clitoral hypertroph... OMIM:266910
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Hyperhidrosis, Oral mucosal blisters ORPHA:79406
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Hypospadias, Abnormal palate morphology, Convex nasal ridge, Synophrys ORPHA:2261
Epidermolysis Bullosa Simplex With Pyloric Atresia
Microtia OMIM:612138
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Dislocated radial head, Long philtrum, Truncus arteriosus, Short nose, Atrial sep... ORPHA:401935
Craniofrontonasal Dysplasia
Broad hallux phalanx, Widow's peak, Ridged fingernail, Sandal gap, Oral cleft, Sensorineural hear... ORPHA:1520
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Choanal atresia, Sandal gap, Absent radius, Vesicoureteral reflux, S... OMIM:607323
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Polydactyly, Sensorineural hearing impairment, Congenital diaphragmatic hernia, Cur... OMIM:301022
Duane Retraction Syndrome
Narrow internal auditory canal, Camptodactyly, Absent radius, Stenosis of the external auditory c... ORPHA:233
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Hypoplastic lacrimal duct, Bulbous nose, Downturned corners of mouth, Upslanted p... OMIM:273390
Floating-Harbor Syndrome
Cryptorchidism, Thin vermilion border, Downturned corners of mouth, Epididymal cyst, Wide mouth, ... OMIM:136140
Marden-Walker Syndrome
Cryptorchidism, Narrow mouth, Camptodactyly, Dextrocardia, High palate, High, narrow palate, Micr... OMIM:248700
Shaheen Syndrome
Enamel hypoplasia, Hypohidrosis, Carious teeth OMIM:615328
2Q37 Microdeletion Syndrome
Thin vermilion border, Downturned corners of mouth, Underdeveloped nasal alae, Bilateral single t... ORPHA:1001
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Ptosis, Microphthalmia OMIM:120433
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Cleft palate ORPHA:261204
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Cryptorchidism, Underdeveloped nasal alae, Overfolded helix, Thin skin, Peripheral pulmonary arte... OMIM:617506
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Blepharophimosis, Ventricular septal defect,... OMIM:600123
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Epicanthus, Cataract, Microcornea, Microphthalmia ORPHA:2528
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Dextrocardia, Spina bifida occulta, High palate, Micrognathia, Ectrodactyl... ORPHA:2437
Cat Eye Syndrome
Abnormal heart morphology, Biliary atresia, Intestinal malrotation, Preauricular pit, Preauricula... OMIM:115470
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Palmoplantar keratoderma, Hypodontia, Hyp... ORPHA:1816
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Carious teeth, Atrial septal defect, Short nose, Finger clinodactyly, Dental crow... OMIM:617602
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Cardiac amyloidosis, Intestinal perforation, Reduced ejection fraction... ORPHA:314652
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Duplicated collecting system, Neutropenia, Patent ductus arteriosus, Pancytopenia... OMIM:227646
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Faciothoracogenital Syndrome
Glandular hypospadias, Long philtrum, Prominent scrotal raphe, Smooth philtrum, Thin upper lip ve... OMIM:227320
Hadziselimovic Syndrome
Low anterior hairline, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, ... OMIM:612946
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Trisomy 4P
Cryptorchidism, Carious teeth, Blepharophimosis, Abnormal palate morphology, Smooth philtrum, Abn... ORPHA:1738
Kilquist Syndrome
Hypoplasia of teeth, Mandibular prognathia, Gastroesophageal reflux, Intestinal malrotation, Wide... OMIM:619080
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Wiedemann-Steiner Syndrome
Dilatation of renal calices, Abnormality of the elbow, High palate, Long philtrum, Rhizomelia, We... ORPHA:319182
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Pericardial effusion, Hi... OMIM:235510
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Choanal atre... ORPHA:2363
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Increased in... OMIM:612290
Vacterl/Vater Association
Cryptorchidism, Omphalocele, Anencephaly, Aplasia/Hypoplasia of the lungs, Abnormality of the ure... ORPHA:887
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Thin vermilion border, Carious teeth, Cigarette-paper scars, Congenital hip dislo... ORPHA:286
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Arthrogryposis multiplex congenita, Hirsutism, Duplicated collecting system, Abno... OMIM:301056
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Hypohidrosis, Decreased serum insulin-like growth factor 1, Patent ductus arterio... ORPHA:363528
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Omphalocele, Cerebral cortical atrophy, ... ORPHA:1834
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... OMIM:610706
48,Xxyy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, B... ORPHA:10
Pai Syndrome
Downslanted palpebral fissures, Nasal polyposis, Midline defect of the nose, Cleft palate, Abnorm... ORPHA:1993
Mosaic Trisomy 1
Hepatic agenesis, Omphalocele, Oral cleft, Long toe, Congenital diaphragmatic hernia, Downslanted... ORPHA:1692
Johanson-Blizzard Syndrome
Oligodontia, Underdeveloped nasal alae, Death in infancy, Dextrocardia, Sensorineural hearing imp... ORPHA:2315
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Absent radius, Sensorineural hearing impairment, Phocomelia, Micrognathia, Abnormali... ORPHA:3320
Trisomy 1Q
Cryptorchidism, Narrow mouth, Scrotal hypoplasia, Patent ductus arteriosus, Omphalocele, Congenit... ORPHA:261344
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Midline central nervous system lipomas, Nasal polyposis, Bifid uvula, High palate, Median cleft lip OMIM:155145
Isolated Pierre Robin Syndrome
Glossoptosis, Abnormality of the pharynx, Cleft palate ORPHA:718
Fryns Syndrome
Cryptorchidism, Intestinal malrotation, Omphalocele, Short distal phalanx of finger, Cerebral cor... ORPHA:2059
Opitz Gbbb Syndrome
Cryptorchidism, Natal tooth, Bicornuate uterus, Vesicoureteral reflux, Downslanted palpebral fiss... ORPHA:2745
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland aplasia, Carious teeth, Lacrimal gland hypoplasia, Xerostomia OMIM:180920
Postorgasmic Illness Syndrome
Xerostomia, Abnormality of the nose, Hyperhidrosis ORPHA:279947
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Microphthalmia, Anophthalmia ORPHA:85275
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Dysphagia, Hypodontia OMIM:616029
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Congenital hip dislocation, Underdeveloped nasal alae, Thi... ORPHA:217346
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Gastrointestinal inflammation, Carious teeth, Atrophic scars, Oral mucosal bli... ORPHA:79405
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hi... ORPHA:294975
Holoprosencephaly 9
Cryptorchidism, Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Solitary median maxi... OMIM:610829
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Omphalocele, Ulnar deviation of the hand, Bicornuate uterus, Narrow gr... OMIM:263210
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Everted lower lip vermilion, Abnormality of the nose, Hypodontia, Hypoplastic nipp... OMIM:614941
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Overfolded helix, Hypergonadotropic hypogonadism, Hypoplasia of the co... OMIM:300514
Robinow Syndrome
Cryptorchidism, Dental crowding, Scrotal hypoplasia, Clitoral hypoplasia, Oral cleft, Triangular ... ORPHA:97360
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Narrow mouth, Downturned corners of mouth, Congenital generalized lipodystrophy, ... ORPHA:3455
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Charge Syndrome
Cryptorchidism, Choanal atresia, Patent ductus arteriosus, Omphalocele, Delayed puberty, Absent r... OMIM:214800
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
8P23.1 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Broad thumb, Broad hallux phalanx, Patent ductus arteriosu... ORPHA:251071
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Narrow mouth, Thin skin, Cutis laxa, Abnormality of primary teeth, Long toe, Skel... ORPHA:75496
Autosomal Recessive Robinow Syndrome
Open bite, Cryptorchidism, Downturned corners of mouth, Oral cleft, Downslanted palpebral fissure... ORPHA:1507
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Mosaic Trisomy 9
Cryptorchidism, Bulbous nose, Elbow dislocation, Intestinal malrotation, Patent ductus arteriosus... ORPHA:99776
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Cutaneous syndactyly of toes, Small hypothenar eminence, Torticollis, Contracture... ORPHA:2872
Rapp-Hodgkin Syndrome
Hypohidrosis, Narrow mouth, Underdeveloped nasal alae, Thin skin, Progressive alopecia, Narrow no... OMIM:129400
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Intestinal malrotation, Pancreatic fibrosis, Ureteral atresia, Renal in... OMIM:208540
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Hypohidrosis, Thin skin, Sandal gap, Downslant... ORPHA:1812
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Carious teeth, Oligodontia, Nail pits, Hydroureter, Thin skin, Split hand, Dacryo... OMIM:129900
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Hip dysplasia, Cryptorchidism, Abnormal lung lobation, Narrow palate, Abnormal palate morphology,... ORPHA:2063
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Metaphyseal irregularity, Pulmonary insufficiency, Death in infancy, Pan... OMIM:208500
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Thick lower lip vermilion, Hypoplasia of the primary teeth, U-Shaped upper lip... OMIM:234250
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Thin skin, Phalangeal dislocation, Slender long bones with narrow diaphyses, Respi... ORPHA:536467
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Trisomy 8Q
Cryptorchidism, Myelomeningocele, Everted lower lip vermilion, Upslanted palpebral fissure, Non-m... ORPHA:1752
N Syndrome
Cryptorchidism, Abnormal eyelid morphology, Hypospadias ORPHA:2608
Dextrocardia
Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Pancreatic hypoplasia, Aplasia/... ORPHA:1666
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormal testis morphology, Abnormality of the dentition, Aplasia/Hypoplasia of the lungs, Hyposp... ORPHA:1548
Lipoid Proteinosis
Tongue nodules, Dysphagia, Nasal polyposis, Scarring, Microglossia, Abnormal oral mucosa morpholo... ORPHA:530
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Abnormality of the outer ear OMIM:248390
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Enlarged kidney, Short humerus, Absent radius, Hydronephrosis... OMIM:314390
Fg Syndrome Type 1
Cryptorchidism, Open mouth, Dental crowding, Choanal atresia, Stenosis of the external auditory c... ORPHA:93932
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, High palate, Micrognathia, Long philtrum, Complete atrioventricular canal defect... ORPHA:476126
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplastic pubic bones, Narrow palate, Split hand, Scrotal hypoplasia, Phocomelia, ... OMIM:276820
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Cryptorchidism, Sparse eyebrow, Underdeveloped nasal alae, Narrow palpebral fi... OMIM:619293
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Congenital hip dislocation, Narrow mouth, Thin skin, Intestinal malrotation, Laryn... OMIM:244450
Hereditary Acrokeratotic Poikiloderma
Open bite, Oral leukoplakia, Ankyloglossia, Abnormal renal tubule morphology, Narrow mouth, Ectro... ORPHA:2907
Xp22.13P22.2 Duplication Syndrome
Sparse hair, Recurrent upper respiratory tract infections, Mandibular prognathia, 2-3 toe syndact... ORPHA:284180
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Blepharophimosis, Hearing abnormality, Upslanted palpebral fissure... ORPHA:1352
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
49,Xxxxy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, M... ORPHA:96264
Omodysplasia 2
Cryptorchidism, Long philtrum, Bifid nasal tip, Hypospadias, Micropenis, Depressed nasal bridge OMIM:164745
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Renpenning Syndrome
Narrow mouth, Mandibular prognathia, Sensorineural hearing impairment, Skeletal muscle atrophy, D... ORPHA:3242
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Gastrointestina... ORPHA:1505
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Cigarette-paper scars, Short phalanx of finger, Thin skin, Downslanted palpebral fissures, High p... OMIM:612350
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Facial e... ORPHA:449432
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Small hypothenar eminence, Dextrocardia, High, narrow palate, Micrognathia, Micro... ORPHA:96092
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Hydrocele testis, Thin vermilion border, Open mouth, Overfolded helix,... OMIM:614080
Salivary Duct Calculi
Abnormality of the mouth, Parotitis OMIM:181010
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Long philtrum, Short nose, Anteverted nares, Dental crowding, Upslanted palpebral... OMIM:616331
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... ORPHA:457083
Meckel Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the tongue, Pancreatic fibrosis, Anencephaly, True hermaphr... ORPHA:564
48,Xxxy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, M... ORPHA:96263
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Sensorineural hearing impa... OMIM:618500
Eec Syndrome
Hypohidrosis, Carious teeth, Abnormal dental enamel morphology, Nail pits, Split hand, Nevus, Cho... ORPHA:1896
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Phenobarbital Embryopathy
Unilateral cleft lip, Hypospadias, Abnormal nasal base, Epicanthus ORPHA:1919
Robinow Syndrome, Autosomal Dominant 3
Cryptorchidism, Broad thumb, Short phalanx of finger, Downturned corners of mouth, Hypoplastic ri... OMIM:616894
Intestinal Botulism
Dysphagia, Xerostomia, Diarrhea ORPHA:178481
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Cryptorchidism, Narrow mouth, Dental crowding, Camptodactyly, Mandibular prognathia, Decreased te... OMIM:300998
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Flexion contracture, Shawl scrotum, Steatorrhea, Pancreatic fi... OMIM:616263
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormality of mesentery morphology, Postaxial hand polydactyly, Downturned corne... ORPHA:2075
Familial Partial Lipodystrophy, Dunnigan Type
Thin skin, Coronary artery atherosclerosis, Polycystic ovaries, Myopathy, Loss of subcutaneous ad... ORPHA:2348
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Split hand, Choanal atresia, Patent ductus art... ORPHA:818
Mental Retardation, Autosomal Recessive 65
Cryptorchidism, Thin vermilion border, Bulbous nose, Ptosis, Downslanted palpebral fissures, Hypo... OMIM:618109
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Coffin-Siris Syndrome 1
Cryptorchidism, Hydroureter, Intestinal malrotation, Choanal atresia, Patent ductus arteriosus, S... OMIM:135900
Erythermalgia, Primary
Xerostomia, Constipation, Hyperhidrosis, Diarrhea OMIM:133020
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Low posterior hairline, Adrenal hypoplasia, Ventricular septal defect, Down... OMIM:220210
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... OMIM:610069
Dyskeratosis Congenita
Carious teeth, Premature graying of hair, Cerebral calcification, Anemia, Neoplasm of the pancrea... ORPHA:1775
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Blepharophimosis, Everted lower lip vermilion, Epicanthus, Tented upper lip vermi... ORPHA:1762
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bulbous nose, Branchial anomaly, Dilatation of renal calices, Hirsutism, Pelvic kidney, Prominent... ORPHA:466950
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Camptodactyly, Recurrent urinary tract infections, Patent ductus arteriosus, Thin ... ORPHA:363444
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Abnormal palate morphology, Anal atresia, Hypoplasia of penis, Hypospadias ORPHA:1381
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing,... OMIM:312870
Meier-Gorlin Syndrome 1
Cryptorchidism, Absent glenoid fossa, Narrow mouth, Elbow dislocation, Thin skin, Camptodactyly, ... OMIM:224690
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, Curly eyelashes, High palate, Intrahepatic biliary atresia,... OMIM:249630
Sc phocomelia syndrome
Sparse hair, Underdeveloped nasal alae, Aplasia of the ulna, Radial deviation of finger, Posterio... OMIM:269000
Pearson Syndrome
Cardiac conduction abnormality, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, ... ORPHA:699
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the submandibular glands, Abnormality of the sublingual g... ORPHA:79493
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Narrow palpebral fissure, Bilateral microphthalmos OMIM:608763
1Q21.1 Microdeletion Syndrome
Ankyloglossia, Cryptorchidism, Long philtrum, Bulbous nose, Epicanthus, Wide nasal bridge, Vesico... ORPHA:250989
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Short phalanx of finger, Anemia, High palate, Short femoral neck, Macroglossia,... OMIM:266920
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Arthrogryposis multiplex congenita, Narrow mouth, Downturned corners of mouth, Ex... OMIM:265000
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Narrow mouth, Aplasia/Hypoplasia of the corpus callosum, S... OMIM:251230
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Prominent nose OMIM:203550
Mental Retardation, Autosomal Dominant 23
Long philtrum, Drooling, Downturned corners of mouth, Dental crowding, Bulbous nose, Upslanted pa... OMIM:615761
Holoprosencephaly
Cryptorchidism, Abnormality of the antihelix, Branchial anomaly, Proteinuria, Spinal dysraphism, ... ORPHA:2162
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Omphalocele, Low-set ears, Testicular atrophy, Syndactyly... OMIM:601163
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Donnai-Barrow Syndrome
Abnormality of the uterus, Short nose, Aplasia/Hypoplasia of the corpus callosum, Proteinuria, Ve... ORPHA:2143
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Dubowitz Syndrome
Cryptorchidism, Abnormality of the antihelix, Broad thumb, Respiratory insufficiency, Sandal gap,... ORPHA:235
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Chordee, Thin skin, Cutis laxa, Choanal atresia, Prominent scalp veins, Sensorine... OMIM:151050
Yao Syndrome
Oral ulcer, Xerostomia, Pleuritis, Diarrhea OMIM:617321
Congenital Heart Defects And Ectodermal Dysplasia
Broad thumb, Thin skin, Premature loss of primary teeth, Sparse scalp hair, Dry skin, Syndactyly,... OMIM:617364
Hyperphosphatasia With Mental Retardation Syndrome 1
Downturned corners of mouth, Mandibular prognathia, Short distal phalanx of finger, Cerebral cort... OMIM:239300
Rhyns Syndrome
Nephronophthisis, Abnormality of long bone morphology, Hypoplastic ilia, Hypopituitarism, Multicy... ORPHA:140976
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Morphological abnormality of the vestibule of the inner ear... OMIM:611584
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Meier-Gorlin Syndrome 8
Low-set ears, Microtia OMIM:617564
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Hydroureter, Atresia of the external auditory canal, Natal ... OMIM:146510
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Mulibrey Nanism
Enamel hypoplasia, Hydrops fetalis, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Wid... OMIM:253250
Trisomy 18
Cryptorchidism, Narrow palate, Narrow mouth, Choanal atresia, Omphalocele, Bilateral single trans... ORPHA:3380
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Hypoplastic lacrimal duct, Carious teeth, Delayed eruption of primary teeth, L... OMIM:149730
Abruzzo-Erickson Syndrome
Hypospadias, Cleft palate OMIM:302905
Baller-Gerold Syndrome
Narrow mouth, Underdeveloped nasal alae, Aphalangy of the hands, Rectovaginal fistula, Absent rad... OMIM:218600
Floating-Harbor Syndrome
Cryptorchidism, Carious teeth, Oligodontia, Precocious puberty, Persistence of primary teeth, Ren... ORPHA:2044
Abruzzo-Erickson Syndrome
Cryptorchidism, Abnormal palate morphology, Epicanthus, Abnormal localization of kidney, Coronal ... ORPHA:921
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Premature graying of hair, Thin skin, Increased facial adipose tissue, Pr... ORPHA:280365
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Ptosis, Hypospadias, Tongue fasciculations, Micropenis OMIM:301830
Mental Retardation, Autosomal Dominant 21
Cryptorchidism, Thin vermilion border, Long philtrum, Atrial septal defect, Narrow mouth, Low-set... OMIM:615502
Kabuki Syndrome
Cryptorchidism, Crossed fused renal ectopia, Duplicated collecting system, Lip pit, Oral cleft, C... ORPHA:2322
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Cutaneous syndactyly, Patent ductus arteriosus, Double outlet right ventricle, Lo... OMIM:618316
Cerebrocostomandibular Syndrome
Spina bifida, Tracheomalacia, Multicystic kidney dysplasia, Meningocele, Cleft palate, Glossoptos... ORPHA:1393
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Patent ductus arteriosus, Histiocytosis, Left superior vena cava draining to coron... OMIM:602782
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Interhypothalamic Adhesion, Tricuspid regurgitation, Dextrocardia, Downslanted pa... OMIM:618929
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Laryngotracheomalacia, Elbow dislocat... ORPHA:56305
Ellis Van Creveld Syndrome
Cryptorchidism, Thin vermilion border, Hydroureter, Short distal phalanx of finger, Dextrocardia,... ORPHA:289
Deafness-Craniofacial Syndrome
Short lingual frenulum, Underdeveloped nasal alae, Wide nasal bridge OMIM:125230
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Recurrent upper respiratory tract infections, Irregularly space... ORPHA:99329
Koolen-De Vries Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Narrow palate, Bulbous nose, Underdeveloped na... ORPHA:96169
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia, Axenfeld anomaly OMIM:609218
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Upslanted palpebral fissure, Microcephaly, Preauricular skin tag, Congenital diap... OMIM:612530
Arthrogryposis, Distal, Type 1C
Pursed lips, Cryptorchidism, Thin vermilion border, Narrow mouth, Blepharophimosis, Cleft lip, Cl... OMIM:619110
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Camptodactyly, Anemia, Downslanted palpebral fissures, Renal insufficiency, High ... OMIM:611209
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Carious teeth, Spina bifida occulta, Hypospadias OMIM:101805
Deeah Syndrome
Cryptorchidism, Hypohidrosis, Narrow palate, Narrow mouth, Death in infancy, Anterior pituitary h... OMIM:619004
Prader-Willi Syndrome Due To Translocation
Carious teeth, Downturned corners of mouth, Patent ductus arteriosus, Anterior pituitary hypoplas... ORPHA:177907
Kleefstra Syndrome
Cryptorchidism, Downturned corners of mouth, Mandibular prognathia, Cerebral cortical atrophy, Ve... ORPHA:261494
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Downturned corners of mouth, Short palm, Patent ductus arteriosus, Micrognathia, ... OMIM:217980
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Cerebrocostomandibular Syndrome
Long philtrum, Anomalous tracheal cartilage, Horseshoe kidney, Anal stenosis, Epicanthus, Abnorma... OMIM:117650
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Supernumerary nipple, Anodontia OMIM:275450
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Microtia OMIM:251800
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Broad thumb, Congenital hip dislocation, Hydroureter, Mandibular prognathia, Deat... ORPHA:373
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Glandular hypospadias, Cryptorchidism, Penile hypospadias, Blind vagina, Bifid scrotum, Penoscrot... ORPHA:456328
7Q11.23 Microduplication Syndrome
Cryptorchidism, Thin vermilion border, Overfolded helix, Narrow palpebral fissure, Patent ductus ... ORPHA:96121
Distal Monosomy 15Q
Cryptorchidism, Aplasia cutis congenita over the scalp vertex, Decreased serum insulin-like growt... ORPHA:1596
Cleft Palate-Large Ears-Small Head Syndrome
Hypospadias, Ptosis, Gingival overgrowth, Cleft palate ORPHA:2013
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Perlman Syndrome
Cryptorchidism, Open mouth, Bilateral single transverse palmar creases, High, narrow palate, Naev... ORPHA:2849
Iatrogenic Botulism
Dysphagia, Xerostomia, Constipation ORPHA:254509
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration OMIM:172500
3C Syndrome
Intestinal malrotation, Death in infancy, Oral cleft, Downslanted palpebral fissures, High, narro... ORPHA:7
Cohen Syndrome
Short metatarsal, Facial hypotonia, Open mouth, Neutropenia, Delayed puberty, Leukopenia, Downsla... OMIM:216550
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy OMIM:232700
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Thin vermilion border, Patent ductus arteriosus, Micrognathia, Micropenis, Depres... ORPHA:171839
Coxoauricular Syndrome
Hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:1508
Distal Trisomy 5Q
Cryptorchidism, Thin vermilion border, Carious teeth, Narrow mouth, Dextrocardia, Downslanted pal... ORPHA:96097
Microtia
Anotia, Hypoplastic helices, Atresia of the external auditory canal, Abnormality of the pinna, Mi... ORPHA:83463
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Joubert Syndrome 26
Panhypopituitarism, Anteverted nares, Recurrent upper respiratory tract infections, Ptosis, Cleft... OMIM:616784
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Hyperhidrosis OMIM:613576
Catel-Manzke Syndrome
Cryptorchidism, Ventricular septal defect, Camptodactyly, High palate, Ulnar deviation of the 2nd... OMIM:616145
Peutz-Jeghers Syndrome
Nasal polyposis, Anemia, Multiple renal cysts, Gastrointestinal infarctions, Abnormality of the g... ORPHA:2869
Glass Syndrome
Oligodontia, Narrow mouth, Bulbous nose, Dental crowding, Thin skin, Camptodactyly, Downslanted p... OMIM:612313
Focal Dermal Hypoplasia
Enamel hypoplasia, Cryptorchidism, Oligodontia, Short metatarsal, Midclavicular aplasia, Congenit... OMIM:305600
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Waardenburg Syndrome, Type 4C
Cryptorchidism, Lacrimal gland hypoplasia, White eyebrow, Anosmia, Aganglionic megacolon, White e... OMIM:613266
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Thin skin, Respiratory i... OMIM:601559
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Short Stature-Obesity Syndrome
Microtia OMIM:269870
Opitz Gbbb Syndrome, Type I
Cryptorchidism, Abnormal nasopharynx morphology, Smooth philtrum, Posterior pharyngeal cleft, Wid... OMIM:300000
Marden-Walker Syndrome
Arthrogryposis multiplex congenita, Narrow mouth, Hydroureter, Muscular dystrophy, Aplasia/Hypopl... ORPHA:2461
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Bilateral microphthalmos, Anophthalmia OMIM:611638
Temple Syndrome
Cryptorchidism, Short philtrum, Decreased testicular size, Cleft palate, Bifid uvula, High palate... OMIM:616222
Congenital Hypothyroidism
Oral cleft, Sinusitis, Macroglossia, Abnormal eyelid morphology, Abnormal pericardium morphology,... ORPHA:442
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Thin vermilion border, Sparse hair, Dermal translucency, Blepharophimosis, Thin s... OMIM:614438
Odontochondrodysplasia 1
Nephronophthisis, Short phalanx of finger, Flared iliac wing, Death in infancy, Flat acetabular r... OMIM:184260
Trisomy 20P
Cryptorchidism, Thin vermilion border, Abnormality of the antihelix, Downturned corners of mouth,... ORPHA:261318
Craniofrontonasal Syndrome
Cryptorchidism, Widow's peak, Ridged nail, Congenital diaphragmatic hernia, Downslanted palpebral... OMIM:304110
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Ptosis, Anteverted nares, Midline defect of the nose, Short hard palate ORPHA:1969
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Cryptorchidism, Thin vermilion border, Molluscoid pseudotumors, Cigarette-pa... OMIM:130050
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia, Micrognathia, Abnormal hemidiaphragm morphology, Abn... ORPHA:2257
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Pulmonary infiltrates, Pulmonary fibrosis, Dysphagia, Gastroesophageal reflux, Fle... ORPHA:220393
Hemifacial Atrophy, Progressive
Microtia, Horner syndrome OMIM:141300
C Syndrome
Cryptorchidism, Thin vermilion border, Hypoplasia of the ear cartilage, Death in infancy, Omphalo... ORPHA:1308
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, Highly arched eyebrow, Blepharophimosis, Upslanted palpebral fissure, Epicanthus,... OMIM:614541
Ehlers-Danlos Syndrome, Periodontal Type, 1
Intestinal perforation, Palmoplantar cutis laxa, Thin skin, Periodontitis, Atrophic scars, Gingiv... OMIM:130080
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia OMIM:300946
Cornelia De Lange Syndrome
Cryptorchidism, Thin vermilion border, Downturned corners of mouth, Elbow dislocation, Atresia of... ORPHA:199
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Aganglionic megacolon, Abnormality of the pinna, Microtia OMIM:613603
Cri-Du-Chat Syndrome
Cryptorchidism, Short metatarsal, Downturned corners of mouth, Premature graying of hair, Abnorma... OMIM:123450
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Mitral regurgitation, Tricuspid regurgitation, Erythema, Abnor... ORPHA:2556
Acromelic Frontonasal Dysplasia
Cryptorchidism, Midline central nervous system lipomas, Anterior pituitary hypoplasia, Aplasia/Hy... ORPHA:1827
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Thin skin, Cardiac arrest, Pulmonary artery stenosis, Myocard... ORPHA:3342
Chromosome 19Q13.11 Deletion Syndrome, Distal
Cryptorchidism, Thin vermilion border, Carious teeth, Sparse eyebrow, Underdeveloped nasal alae, ... OMIM:613026
Gracile Bone Dysplasia
Ankyloglossia, Micropenis OMIM:602361
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
1Q21.1 Microduplication Syndrome
Hip dysplasia, Cryptorchidism, Talipes equinovarus, Arthrogryposis multiplex congenita, Gastroeso... ORPHA:250994
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Camptodactyly of finger, Long philtrum, Anomalous pulmonary venous return, Abnorm... ORPHA:2311
Fanconi Anemia, Complementation Group C
Cryptorchidism, Duplicated collecting system, Neutropenia, Pancytopenia, Absent radius, Anemia, S... OMIM:227645
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Abnormality of the philtrum, Upslanted palpebral fissure, Abnormality of the... ORPHA:276422
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bulbous nose, Downturned corners of mouth, Dilatation of renal calices, Sensorineural hearing imp... ORPHA:466943
Meckel Syndrome, Type 10
Narrow palpebral fissure, Epicanthus, Ptosis, Renal cyst, Cleft palate, Hypospadias, Micropenis OMIM:614175
Serkal Syndrome
Malrotation of small bowel, Hypoplasia of the bladder, Ventricular septal defect, Sex reversal, A... ORPHA:139466
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Prune Belly Syndrome
Cryptorchidism, Oligohydramnios, Anal atresia, Xerostomia OMIM:100100
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Open mouth, Camptodactyly, Choanal atresia, Patent ductus arteriosus, Anencephaly... OMIM:619148
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Scrotal hypoplasia, Patent ductus arteriosus, Sandal gap, Sensorineural hearing i... OMIM:607143
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Polydactyly, Patent ductus arteriosus, Anterior pituitary hypoplasia, Cerebral co... ORPHA:464306
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Ptosis, Microphthalmia ORPHA:1473
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Narrow mouth, Downturned corners of mouth, Thin skin, Natal tooth, Prominent scal... OMIM:264090
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Long philtrum, Highly arched eyebrow, Downturned corners of mouth, Blepharophimos... ORPHA:404440
Juberg-Hayward Syndrome
Highly arched eyebrow, Hypoplasia of the radius, Abnormal eyebrow morphology, Toe syndactyly, Abn... ORPHA:2319
Wolf-Hirschhorn Syndrome
Cryptorchidism, Abnormality of the philtrum, Downturned corners of mouth, Split hand, Aplasia/Hyp... ORPHA:280
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Bulbous nose, Mandibular prognathia, Sandal gap, Distal lower limb amyotrophy, De... OMIM:300354
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Dermal translucency, Hepatic steatosis, Drumstick terminal phalanges, Duplicated col... ORPHA:541423
Acrocephalopolydactyly
Microtia ORPHA:221054
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental enamel morphology ORPHA:69087
3-Hydroxyisobutyric Aciduria
Microtia ORPHA:939
Mandibuloacral Dysplasia
Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding, Thin skin, Short clavicles, Hig... ORPHA:2457
Infant Botulism
Drooling, Dysphagia, Constipation, Bowel incontinence, Xerostomia, Abnormality of the pharynx ORPHA:178478
Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Abnormality of dental morphology, Thick vermilion border, Abnormality of the dentit... ORPHA:238468
Helix Syndrome
Hypohidrosis, Xerostomia, Polydipsia, Anhidrosis, Hyperparathyroidism OMIM:617671
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Prominent nasal bridge, Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Schisis Association
Spina bifida, Omphalocele, Anencephaly, Unilateral cleft lip, Anal atresia, Congenital diaphragma... ORPHA:63862
Recombinant 8 Syndrome
Cryptorchidism, Downturned corners of mouth, Scrotal hypoplasia, Patent ductus arteriosus, Bilate... ORPHA:96167
Opitz-Kaveggia Syndrome
Cryptorchidism, Broad thumb, Narrow palate, Dental crowding, Split hand, Camptodactyly, Intestina... OMIM:305450
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Thin vermilion border, Bulbous nose, Sparse hair, Macrotia, Thin skin, Respirator... ORPHA:261304
Buratti-Harel Syndrome
Cryptorchidism, Recurrent pneumonia, Sparse medial eyebrow, Epicanthus, Laryngomalacia, Ptosis, H... OMIM:619314
Monosomy 9P
Anotia, Cryptorchidism, Abnormality of the antihelix, Narrow mouth, Atresia of the external audit... ORPHA:261112
Pseudotrisomy 13 Syndrome
Cryptorchidism, Omphalocele, Dextrocardia, Bicornuate uterus, Micropenis, Postaxial hand polydact... OMIM:264480
Distal 22Q11.2 Microdeletion Syndrome
Ankyloglossia, Highly arched eyebrow, Narrow mouth, Blepharophimosis, Underdeveloped nasal alae, ... ORPHA:261330
Peters Plus Syndrome
Cryptorchidism, Patent ductus arteriosus, Clitoral hypoplasia, Cerebral cortical atrophy, Congeni... ORPHA:709
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Hypoplas... OMIM:137920
Fryns Syndrome
Cryptorchidism, Camptodactyly, Narrow palpebral fissure, Intestinal malrotation, Omphalocele, Sho... OMIM:229850
Microphthalmia, Syndromic 9
Cryptorchidism, Single ventricle, Patent ductus arteriosus, Respiratory insufficiency, Bicornuate... OMIM:601186
Chromosome 18Q Deletion Syndrome
Cryptorchidism, Downturned corners of mouth, Mandibular prognathia, Atresia of the external audit... OMIM:601808
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse eyebrow, Mandibular prognathia, Left superior vena cava draining to coronary sinus, Pulmon... ORPHA:464738
Witteveen-Kolk Syndrome
Cryptorchidism, Gastrointestinal atresia, Thin vermilion border, Narrow mouth, Open mouth, Underd... OMIM:613406
Botulism
Dysphagia, Xerostomia, Constipation, Diarrhea ORPHA:1267
Fetal Trimethadione Syndrome
Ambiguous genitalia, Short nose, High palate, Epicanthus, Synophrys, Ptosis, Hypospadias, Depress... ORPHA:1913
Lichtenstein Syndrome
Enamel hypoplasia, Carious teeth, Downturned corners of mouth, Anteverted nares, Recurrent respir... OMIM:246550
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cryptorchidism, Ventricular hypertrophy, Death in infancy, Ulnar deviation of the hand, Stenosis ... OMIM:602613
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Dislocated radial head, Scapulohumeral synostosis, Narrow mouth, Conductive heari... OMIM:602471
Prolidase Deficiency
Carious teeth, Thin skin, Hirsutism, Bilateral single transverse palmar creases, Erythema, Microg... ORPHA:742
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Thin vermilion border, Short metatarsal, Short phalanx of finger, Broad thumb, Fl...