Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Autism, Susceptibility To, X-Linked 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300425 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Accessory ... |
ORPHA:79113 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplas... |
ORPHA:1988 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Anotia, High palate, Agenesis o... |
ORPHA:261112 |
Autism |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:607373 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Abnormal dental morphology, Malar prominence, Microcep... |
ORPHA:2522 |
Mullegama-Klein-Martinez Syndrome |
|
Micrognathia, Prominent nose, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Depres... |
OMIM:301022 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Epicanthus, Abnormal dental enamel morphology, Blepharophimosis, Elbow dislo... |
ORPHA:3236 |
Toriello-Carey Syndrome |
|
Micrognathia, Short neck, Partial agenesis of the corpus callosum, Anteriorly placed anus, Anotia... |
ORPHA:3338 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Micrognathia, Short neck, Glossopto... |
OMIM:611209 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, An... |
ORPHA:2554 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Mi... |
OMIM:616462 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath... |
ORPHA:2980 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, Hypo... |
ORPHA:861 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:245 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Micrognathia, Microcephaly, Ectopic kidney, Broad nasal tip, Cleft upper lip, Narrow mouth, 2-3 t... |
OMIM:239800 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... |
OMIM:618780 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of ... |
OMIM:613717 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Abnormality of the middle ear ossicles, Dista... |
ORPHA:2549 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Braddock-Carey Syndrome 2 |
|
Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the exter... |
OMIM:619981 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Vesicoure... |
OMIM:113650 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, High palate, Narrow greater sciatic notch, Conductive hearing impairment, Joint con... |
OMIM:602471 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Facial palsy, Choanal atresia, Microcephaly, Absent eyelashes, Carious teeth, Pre... |
ORPHA:2316 |
Bor Syndrome |
|
Branchial cyst, Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dyspl... |
ORPHA:107 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Microcephaly, Micrognathia, Short neck, Bulbou... |
OMIM:616549 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Choanal stenosis, ... |
OMIM:620186 |
Monosomy 22 |
|
Short neck, Synophrys, High palate, Clinodactyly of the 5th finger, Micropenis, Low-set, posterio... |
ORPHA:96123 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flexion contract... |
OMIM:224690 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... |
OMIM:601808 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Renal cyst, Conductive hearing impairment,... |
OMIM:113620 |
Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Micrognathia, Prominent nose, Long nose, Clinodactyly of the 5th finger, Hypo... |
ORPHA:3047 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Syndactyly... |
OMIM:614701 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Abnormality of the ki... |
ORPHA:521445 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis, Hearing impairment |
OMIM:235740 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea |
OMIM:166780 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Conductive hearing impairment, Vesicoureteral reflux, Joint laxity, Anteverted n... |
OMIM:157800 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Anotia, Atresia of the external a... |
OMIM:608257 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Micrognathia, Prominent nose, Underdeveloped nasal alae, Sensorineural hearing impairment, Synoph... |
ORPHA:90024 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Ankyloblepharon, Conjunctivit... |
OMIM:106260 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Proximal placement of thumb, Micrognathia, Deep philtrum, Conductive hearing impairment, Antevert... |
OMIM:610536 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Abnormality of the philtrum, Renal hypoplasia/apla... |
ORPHA:1770 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middl... |
OMIM:308050 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, Orofacial cleft, Absent nares, Abnormality... |
ORPHA:2166 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:1488 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Ant... |
ORPHA:1703 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Otofaciocervical Syndrome |
|
Abnormal clavicle morphology, Scapular winging, Anteverted nares, Down-sloping shoulders, Depress... |
ORPHA:2792 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, Patent ductus arteriosus, Aplasia/Hypoplasia of the... |
ORPHA:2306 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Contracture of ... |
OMIM:618223 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... |
OMIM:213980 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Ectopic kidney, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic vertebra... |
ORPHA:268249 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Warsaw Breakage Syndrome |
|
Optic disc coloboma, Hypoplasia of the cochlea, Cupped ear, Hearing impairment |
OMIM:613398 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Nephrocalci... |
OMIM:268310 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Panhypopituitarism, Hemivertebrae, D... |
ORPHA:672 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ... |
ORPHA:949 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Shashi-Pena Syndrome |
|
Reduced cerebral white matter volume, Accelerated skeletal maturation, Synophrys, Short metacarpa... |
OMIM:617190 |
Acrofacial Dysostosis 1, Nager Type |
|
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absen... |
OMIM:154400 |
Lambotte Syndrome |
|
Telecanthus, Microcephaly, Retrognathia, Atresia of the external auditory canal, Narrow mouth, Pr... |
OMIM:245552 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Prominent nose, Bilateral cryptorchidism, Synophrys, Pectus carinatum, Downturned corners of mout... |
OMIM:617796 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Renal hypoplasia/aplasia, Short neck, Abnormal sacrum morphology, Abnormal rib morp... |
ORPHA:2345 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Multiple pterygia, Abnormal eyelid morphology, Micrognathia, Symphalangism a... |
ORPHA:2990 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude |
OMIM:613641 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis, Epicanthus, Micrognathia, Microcephaly, Underdeveloped nasal alae, Wide n... |
OMIM:248910 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Micrognathia, Cleft palate, Persi... |
OMIM:300946 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Hypoplasia of th... |
ORPHA:2673 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Short neck, Anotia, Micropenis, Esophageal atresia, Renal hypoplasia, Wide nasal br... |
OMIM:614083 |
Branchiootic Syndrome |
|
Branchial fistula, Abnormal nasolacrimal system morphology, Facial palsy, Lip pit, Micrognathia, ... |
ORPHA:52429 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectu... |
ORPHA:1507 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
7Q31 Microdeletion Syndrome |
|
Prominent nose, Hypoplasia of the maxilla, Enuresis nocturna, Hypoplasia of the semicircular cana... |
ORPHA:251061 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment, Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Sifrim-Hitz-Weiss Syndrome |
|
Anteriorly placed anus, Vesicoureteral reflux, Micropenis, Bifid uvula, Hypogonadotropic hypogona... |
OMIM:617159 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Autism, Susceptibility To, X-Linked 2 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300495 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Opt... |
OMIM:123500 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... |
ORPHA:2311 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, ... |
OMIM:618504 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Microcephaly, Bifid nasal tip, Horseshoe kidney, Microtia, Atresia of the external auditory canal... |
ORPHA:2213 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Renal agenesis, Spina bifida, Micrognathia, Renal ... |
ORPHA:3412 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Mandibular prognathia, Synophrys, Abnormal form of the vertebral bodies, Pectus... |
ORPHA:1327 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Renal cyst, T... |
ORPHA:798 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Atelosteogenesis, Type I |
|
Laryngeal stenosis, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, ... |
OMIM:108720 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v... |
ORPHA:3320 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Kbg Syndrome |
|
Persistent open anterior fontanelle, Short neck, Synophrys, Finger clinodactyly, Widely-spaced ma... |
ORPHA:2332 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Carcinoid tumor, Abnormality of the auditory ... |
ORPHA:100084 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural hearing impairment, Cleft p... |
OMIM:214300 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Microtia, Low-set ears |
OMIM:617564 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly... |
ORPHA:915 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Vesicoureteral reflux |
OMIM:605192 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy |
ORPHA:1513 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, Vertebral segm... |
ORPHA:87 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Microcephaly, Pectus excav... |
OMIM:619227 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, High, narrow palate, Protruding ear, Vertebral segmentation defect, Vesicou... |
ORPHA:96169 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micrognathia, Pectus carinatum, Abnormal septum pellucidum morphology, Short palm, Micropenis, Hy... |
ORPHA:171839 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Microcephaly, Bifid distal phalanx of the thumb, Moderat... |
ORPHA:370010 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Telecanthus, Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive ... |
ORPHA:2010 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Microretrognathia, Epicanthus, Finger syndactyly, Arachnodacty... |
ORPHA:2994 |
Lamb-Shaffer Syndrome |
|
Epicanthus, Microcephaly, Micrognathia, Broad nasal tip, Decreased head circumference, Optic atro... |
ORPHA:530983 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ... |
OMIM:164210 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
Frontometaphyseal Dysplasia |
|
Subglottic stenosis, Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal... |
ORPHA:1826 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Anteriorly placed anus, High palate, Choanal stenosis, Agenesis of corpus callosum, Bifid uvula, ... |
OMIM:123790 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydranencephaly, Cerebral calcification, Spina bi... |
ORPHA:1393 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Reduced cerebral white matter volume, Microcephaly, Narrow mouth, Wide nasal bridge, Downturned c... |
OMIM:617333 |
Fraser Syndrome 1 |
|
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Laryngeal stenosis, Cleft ala nasi, Dental ... |
OMIM:219000 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Tra... |
OMIM:613458 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
14Q22Q23 Microdeletion Syndrome |
|
Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Downturned corners of mouth, Sho... |
ORPHA:264200 |
Radial-Renal Syndrome |
|
External ear malformation, Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... |
OMIM:617140 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Posteriorly rotated ears, Renal duplication, Choanal atresia, Micrognathia, Ec... |
OMIM:613309 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... |
ORPHA:1457 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:608636 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa... |
OMIM:186500 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Wide nose, Micrognathia, Microcephaly, Limbal dermoid, Underd... |
ORPHA:398156 |
6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Anteverted nares, Depressed nasal bridge, Micrognathia, Almond-shaped pa... |
ORPHA:171829 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Epicanthus, Congenital hip dislocation, An... |
ORPHA:2412 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis |
OMIM:184460 |
8Q22.1 Microdeletion Syndrome |
|
Short neck, Hypoplasia of the maxilla, Depressed nasal ridge, Finger syndactyly, Underfolded heli... |
ORPHA:178303 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Microtia, Cleft palate, Micrognathia |
OMIM:243440 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis |
OMIM:219050 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Nephrocal... |
ORPHA:79500 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Protruding ear, Short philtrum, Aplasia/Hypoplasia of th... |
ORPHA:50 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generaliz... |
ORPHA:508498 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Catifa Syndrome |
|
Delayed eruption of teeth, Epicanthus, Anteverted nares, Cleft lip, Cleft palate, Mild microcepha... |
OMIM:618761 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth... |
ORPHA:261295 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Kbg Syndrome |
|
Tented upper lip vermilion, Short neck, Epispadias, Synophrys, Protruding ear, Widely-spaced maxi... |
OMIM:148050 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Epicanthus, Congenital hip dislocation, Rocker bottom foot, Pyloric stenosis, Short 5th finger, A... |
OMIM:133705 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral cryptorchidism, Periventricular cysts, Clinodactyly of the 5th finger, Absent eyebrow, ... |
ORPHA:544488 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries |
OMIM:231060 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Abnormality of the dentition, Clinodactyly of the 5th finger, Atresia of the external auditory ca... |
OMIM:221320 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Patent ductus arter... |
ORPHA:860 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... |
OMIM:602535 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Short neck, High palate, Arachnodactyly, Highly arched e... |
ORPHA:505237 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Micr... |
ORPHA:261236 |
Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Conductive hearing impairmen... |
OMIM:136760 |
3Mc Syndrome 2 |
|
Limited elbow movement, Downturned corners of mouth, High palate, Abnormal vertebral morphology, ... |
OMIM:265050 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno... |
ORPHA:1597 |
Wilson-Turner Syndrome |
|
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Uplifted earlobe, Micrognathia, Malar pr... |
ORPHA:3459 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Renpenning Syndrome |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Short philtrum, Clinodactyly of the 5... |
ORPHA:3242 |
Frontometaphyseal Dysplasia 2 |
|
Subglottic stenosis, Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatars... |
OMIM:617137 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Downturned... |
ORPHA:199 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Decreased response to growth hormone stimulation test, Optic nerve hypo... |
OMIM:609053 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Anteriorly... |
OMIM:211380 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Micrognathia, Microcephaly, Cryptorchidism, Kyphosis, Short neck, Cerebral at... |
OMIM:611890 |
Cerebrofaciothoracic Dysplasia |
|
Cerebellar vermis hypoplasia, Short neck, Synophrys, Hemivertebrae, Sprengel anomaly, Vertebral s... |
ORPHA:1394 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Webbed penis, Micropenis, Long phi... |
ORPHA:97360 |
Coxoauricular Syndrome |
|
Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pelvic girdle ... |
ORPHA:1508 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Short neck, Cryptor... |
OMIM:618393 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Short metatarsal, Downturned corners of mout... |
ORPHA:217017 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic... |
OMIM:244200 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Unilateral renal agenesis, Aggressive behavior,... |
ORPHA:3306 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... |
ORPHA:2260 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilater... |
OMIM:614900 |
Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Cleft ala nasi, Dental crowding, Or... |
ORPHA:2052 |
Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing impairment, Vertebral ... |
OMIM:130720 |
Recon Progeroid Syndrome |
|
Attached earlobe, Joint laxity, Prominence of the premaxilla, Smooth philtrum, Arachnodactyly, An... |
OMIM:620370 |
19P13.3 Microduplication Syndrome |
|
Micrognathia, Prominent nose, Short philtrum, Precocious puberty, Osteoporosis, Microtia, Thick v... |
ORPHA:447980 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Choanal atresia, Short thumb, Patent ductus arteriosus, Osteoporos... |
OMIM:612562 |
Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalanx, Depressed nasal bri... |
ORPHA:93259 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Synophrys, Subcortical band... |
OMIM:618737 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Papilledema, Thickened ribs, Depressed nasal br... |
OMIM:122860 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Aganglionic megacolon, Intestinal malrotation, Hearing impairment, Intestina... |
OMIM:243180 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Epicanthus, Abnormal pinna morphology, Micrognathia, Microcephaly, Velopharyngeal insufficiency, ... |
OMIM:608363 |
Holoprosencephaly 7 |
|
Synophrys, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Hypoplastic nasa... |
OMIM:610828 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ... |
OMIM:616331 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Synophr... |
ORPHA:444077 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Cerebral calcification, Proximal placement of th... |
ORPHA:628 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Adrenal hypoplasia, Microcephaly, Proboscis... |
OMIM:157170 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Ablepharon, Telecanthus, Ectropion, Abnormal pinna morphology, Antever... |
ORPHA:1231 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the brainstem, Congenital contracture, Pachy... |
OMIM:236670 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Deafness, X-Linked 7 |
|
Telecanthus, Posteriorly rotated ears, Hearing impairment, Wide nasal bridge, Atresia of the exte... |
OMIM:301018 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Abnormality of the kidney, Unilateral renal agenesis, Short neck, Senso... |
OMIM:118100 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Hemivertebrae, ... |
OMIM:134780 |
Tetraploidy |
|
Convex nasal ridge, Microcephaly, Micrognathia, Radial club hand, Renal hypoplasia/aplasia, Cleft... |
ORPHA:3305 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge,... |
OMIM:618829 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Crypto... |
ORPHA:85284 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ... |
ORPHA:776 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Abnormality of the urethra, Abnormality of the... |
ORPHA:2145 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Synophrys, Depressed nasal ridge, Orofacial cleft, High palate, Thickened helices... |
OMIM:607872 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Ring Chromosome 8 Syndrome |
|
Epicanthus, Anteverted nares, Abnormality of the ureter, Deviation of finger, Round ear, Short no... |
ORPHA:1450 |
Ohdo Syndrome |
|
Micrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Joint laxity, Anteverted nares... |
OMIM:249620 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Low-set ears |
OMIM:617661 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Micrognathia, Short neck, Clinodactyly of the 5th finger, Cryptorchidism, Ap... |
ORPHA:3409 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment |
OMIM:251800 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Periventricular cysts, Abnormal form of the vertebral bodies, Orofacial cleft, Down... |
OMIM:194190 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
3-Hydroxyisobutyric Aciduria |
|
Cerebral calcification, Hypogonadotropic hypogonadism, Microcephaly, Micrognathia, Aplasia/Hypopl... |
ORPHA:939 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Azoospermia, Conductive hearing impair... |
OMIM:601076 |
Chops Syndrome |
|
Brachydactyly, Anteverted nares, Tracheomalacia, Microcephaly, Cryptorchidism, Synophrys, High, n... |
OMIM:616368 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Prolonged brainstem auditory evoked potentials, Decreased motor n... |
OMIM:601596 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hea... |
ORPHA:261197 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Craniofacial hyperostosis, Smooth philt... |
ORPHA:1133 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Underdeveloped antitragus, Prominent nose, Glandular hypospadias, Abnormal caudate nucleus morpho... |
ORPHA:293725 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Toe syndactyly, Hypoplasia of penis, Camptodactyly of finger, Antever... |
ORPHA:920 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Short neck, Fetal pyelectasis, Nephrocalcin... |
ORPHA:264450 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Abnormality of the kidney, Micrognathia, Cryptorchidism... |
ORPHA:1724 |
Craniometaphyseal Dysplasia |
|
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... |
ORPHA:1522 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... |
ORPHA:794 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Micrognathia, Short neck, Pectus carinatum, Clinodact... |
ORPHA:3082 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal metatarsal morphology, Short neck, Enlarged thorax, Thick upper lip vermilion, Limited p... |
ORPHA:163654 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Micrognathia, Short n... |
ORPHA:263508 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short palm, Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxi... |
ORPHA:85279 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... |
OMIM:620107 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Choanal st... |
ORPHA:83617 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, ... |
OMIM:616367 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High... |
OMIM:614188 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, Micrognathia, Lateral clavicle hook, Femoral ... |
OMIM:274000 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Asplenia, High palate, Narrow chest, Sh... |
OMIM:617746 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... |
OMIM:210720 |
Trisomy 20P |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min... |
ORPHA:261318 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai... |
ORPHA:1307 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Hypogonadism, Hydronephrosis, Hearing impairment |
OMIM:615996 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Microcephaly, Abnormality of the endocrine system, Cry... |
ORPHA:464288 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cerebral calcification, Micrognathia, High, narrow palate, Large iliac wing, Conductive hearing i... |
ORPHA:2780 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Verheij Syndrome |
|
Branchial cyst, Short neck, Hemivertebrae, Renal cyst, Joint laxity, Vertebral fusion, Anteverted... |
OMIM:615583 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Urinary incontinence, Vertigo, Cranial nerve compression... |
ORPHA:268882 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Epicanthus, Aplasia/Hypoplasia of the maxi... |
ORPHA:40366 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, EEG abnormality, Prolinuria... |
OMIM:239500 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Short neck, Synophrys, Partial agenesis of the corpus callosum, Thoracic kyphosis, ... |
OMIM:620250 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Microt... |
OMIM:141300 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Protruding ear, Inc... |
ORPHA:481152 |
Atelis Syndrome 1 |
|
Glue ear, Prominent nose, Carious teeth, Hypothyroidism, Thrombocytopenia, Lumbar kyphosis, Leuko... |
OMIM:620184 |
Acrocephalopolydactyly |
|
Epicanthus, Genu recurvatum, Short neck, Abnormal renal morphology, Depressed nasal ridge, Hepato... |
ORPHA:221054 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Epicanthus, Abnormal number of incisors, Coxa valga, Prominent nose, Cryptorchidism, Osteoporosis... |
ORPHA:2958 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Overriding aorta, Vascular ring |
OMIM:601927 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Epistaxis, Dental crowding, Microcephaly, Hypoplasia of the maxilla, Meta... |
ORPHA:293939 |
Fraser Syndrome 2 |
|
Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Underde... |
OMIM:617666 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema, Abnormality of the outer ear, Hearing impairment |
OMIM:314600 |
Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Prominent nose, Generalized joint laxity, Abnormal sternum morphol... |
ORPHA:93932 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:312150 |
Trisomy 13 |
|
High, narrow palate, Narrow chest, Abnormal eyelash morphology, Cryptorchidism, Patent ductus art... |
ORPHA:3378 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Ectopic kidney, Porencephalic cyst, Renal cyst, Anterio... |
OMIM:117650 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Hypospadias, Short neck, Abnormality of the spl... |
ORPHA:2487 |
20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Pectus carinatum, Short palm, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:363659 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Absent trag... |
OMIM:603457 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Microcephaly, Hyperlordosis, Missing ribs, Short neck, Short thorax, Abnormal r... |
ORPHA:1797 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Prominent nose, Hemivertebrae,... |
OMIM:156200 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Abnormality of the urinary system, Abnormality of... |
ORPHA:90117 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Micrognathia, Synophrys, Microtia, E... |
ORPHA:357175 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Congenital sensorineural hearing impairment, Hypergonadotropic hypogonadism, Elevated circulating... |
OMIM:617872 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... |
OMIM:613854 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Cohen Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short p... |
ORPHA:193 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... |
OMIM:619178 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Protruding ear, Downturned co... |
ORPHA:500150 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormality of the philtrum, Microc... |
ORPHA:276422 |
Schilbach-Rott Syndrome |
|
Epicanthus, Posteriorly rotated ears, Hypospadias, Micrognathia, Microcephaly, Prominent nose, 2-... |
OMIM:164220 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Micrognathia, Synophrys, Downturned ... |
OMIM:615162 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ... |
ORPHA:819 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Skeletal muscle atrophy, Vascular ring |
OMIM:603387 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Short neck, Abnormality of the spleen, Renal cyst, Abnormal form of the vertebral b... |
ORPHA:1834 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Posteriorly rotated ears, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Hypsarrhyt... |
OMIM:618494 |
Ohdo Syndrome, X-Linked |
|
Micrognathia, Prominent nose, High palate, Narrow chest, Widely spaced teeth, Microdontia, Microp... |
OMIM:300895 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... |
OMIM:212720 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Pectus carinatu... |
ORPHA:192 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Protruding ear, Narrow pal... |
OMIM:618302 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Choanal atresia,... |
OMIM:154500 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Intestinal malrotation, Short neck, Dysplastic cor... |
ORPHA:2328 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Epicanthus, Abnormality of the philtrum, Microcephaly, Abnormality of the dent... |
ORPHA:3268 |
Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,... |
ORPHA:90650 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Sh... |
ORPHA:3258 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:163976 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Micrognathia, Clinodactyly, Prominent fingertip pads, Broad hallux, Cleft soft palate, Anteverted... |
OMIM:618529 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Macrodontia, Abnormal dental enamel morpholo... |
ORPHA:2916 |
Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pads, Vesicoureteral reflu... |
OMIM:610443 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Short neck, Bifi... |
OMIM:616854 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... |
ORPHA:439822 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of penis, Abnormal pinna morphology, Hypogonadotropic hypog... |
ORPHA:3068 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Relative macrocephaly, Osteopenia, Metaphyseal dysplasia, Posteriorly rotated ears, Decreased res... |
OMIM:618336 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Protruding ear, Conductive hearing impairment, Heari... |
OMIM:608572 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... |
ORPHA:2180 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Decreased proportion of nai... |
ORPHA:83471 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Delayed cranial suture closu... |
ORPHA:90674 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand... |
OMIM:246560 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperactivity disorder, Chronic otit... |
OMIM:609757 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Anteverted nares, Abnormality of t... |
ORPHA:1035 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Micrognathia, Microcephaly, Cryptorchidi... |
ORPHA:1926 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Dental crowding, Micrognath... |
OMIM:619941 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:253290 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta... |
OMIM:182212 |
Nablus Mask-Like Facial Syndrome |
|
Short neck, Hypoplasia of the maxilla, High palate, Small earlobe, Micropenis, Anteverted nares, ... |
OMIM:608156 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Shallow orb... |
OMIM:616580 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Conductive hea... |
ORPHA:1606 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front... |
ORPHA:436003 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... |
ORPHA:1529 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Prominent fingertip pads, Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Microcephaly... |
OMIM:617412 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Sinusitis, ... |
OMIM:102700 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Ciliary Dyskinesia, Primary, 40 |
|
Right aortic arch, Patent ductus arteriosus, Interrupted inferior vena cava with azygous continua... |
OMIM:618300 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, High palate, Neonatal death, Anteverted... |
OMIM:311900 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
Warburg-Cinotti Syndrome |
|
Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha... |
OMIM:618175 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... |
ORPHA:3400 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Wide nose, Hearing impairment, Hypoplasia of the maxilla, Short nose, Optic atroph... |
OMIM:614261 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tapered f... |
OMIM:218000 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper r... |
OMIM:602450 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Deep philtrum, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Antever... |
OMIM:227330 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Hypoplasia of the ... |
OMIM:305400 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Coxa valga... |
OMIM:614753 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Upslanted palpebral fissure, Macr... |
ORPHA:93950 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin... |
ORPHA:90673 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Isotretinoin Syndrome |
|
Sacral dimple, Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Biparietal narrowing... |
ORPHA:2305 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... |
ORPHA:2790 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the ma... |
ORPHA:314679 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... |
OMIM:178110 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, S... |
OMIM:613805 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Autism, Susceptibility To, 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:608049 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the cerebellum, Choanal atresia, Hypoplasia of the maxilla, ... |
ORPHA:93262 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Posteriorly rotated ears, Sandal gap, Microcephaly, Tapered finger, Cleft lip, Narrow mouth, Smal... |
OMIM:618089 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Heterotaxy, Visceral, 7, Autosomal |
|
Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azygous conti... |
OMIM:616749 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Synophrys, High palate, Short philtrum, Anteverted nares, Tapered finger, Wide ... |
OMIM:616977 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... |
OMIM:614922 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the corpus callosu... |
OMIM:304050 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Anteverted nares, Underdeveloped nasal alae, Flexion contracture, Congenital pyloric atresia, Mic... |
OMIM:612138 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Ectopic kidney, Anteverted ears, Vesicoureteral reflux, Thickened helices, Micropenis, Cryptorchi... |
OMIM:617641 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Simplified gyral pattern, Oligodontia, High palate, Clino... |
OMIM:613823 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Tented upper lip vermilion, Short neck, Deep philtrum, Simplified gyral pa... |
OMIM:618622 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short neck, Delayed epiphyseal ossification, Deep philtrum, Narrow chest, Death in childhood, Dys... |
OMIM:613320 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... |
OMIM:615993 |
Distal Triplication 15Q |
|
Micrognathia, Flexion contracture, Abnormal sternum morphology, High palate, Dandy-Walker malform... |
ORPHA:314588 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Protruding ear, Anodontia, Finger syndactyly, Abnormal dental morphology... |
ORPHA:3253 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Micrognathia, Syn... |
OMIM:619873 |
17Q24.2 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Short neck, Synophrys, Pinea... |
ORPHA:529962 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Attention deficit h... |
ORPHA:281090 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Aggressive behavior, EEG abnormality, Inappropriate laughter, Bruxism, Abnormal repetitive manner... |
OMIM:619150 |
Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Microcephaly, Pectus excavatum, Short neck, Cleft upper lip... |
OMIM:609654 |
Distal Deletion 10P |
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Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Microcephaly, Cryptorchidis... |
ORPHA:1580 |
Osteopathia Striata With Cranial Sclerosis |
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Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... |
OMIM:300373 |
Aortic Aneurysm, Familial Thoracic 4 |
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Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
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Cerebral calcification, Micrognathia, Nephrogenic diabetes insipidus, Carious teeth, Supernumerar... |
ORPHA:3145 |
Simpson-Golabi-Behmel Syndrome |
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Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Acc... |
ORPHA:373 |
Premature Ovarian Failure 19 |
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Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Atrial Septal Defect 4 |
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Coarctation of aorta |
OMIM:611363 |
Codas Syndrome |
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Congenital hip dislocation, Abnormal form of the vertebral bodies, Short metacarpal, Anteverted n... |
ORPHA:1458 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Low-set ears, Neonatal death, Renal ... |
OMIM:236500 |
Aminopterin Syndrome Sine Aminopterin |
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Thoracic scoliosis, Micrognathia, Oligodontia, High palate, Syndactyly, Rudimentary postaxial pol... |
OMIM:600325 |
Ravine Syndrome |
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Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Toluene Embryopathy |
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Smooth philtrum, Epicanthus, Micrognathia, Microcephaly, Cryptorchidism, Tapered finger, Abnormal... |
ORPHA:1920 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
22Q11.2 Duplication Syndrome |
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Tetralogy of Fallot, Transposition of the great arteries, Interrupted aortic arch |
ORPHA:1727 |
Dubowitz Syndrome |
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Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... |
ORPHA:235 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Micrognathia... |
ORPHA:93267 |
Branchioskeletogenital Syndrome |
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Attached earlobe, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb perome... |
ORPHA:1299 |
Kagami-Ogata Syndrome |
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Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Hypoplasi... |
OMIM:608149 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Epicanthus, Palpebral edema, Micrognathia, Metatarsus adductus, Cryptorchidism, Optic nerve dyspl... |
OMIM:214110 |
Crouzon Syndrome |
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Choanal atresia, Hearing impairment, Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic... |
ORPHA:207 |
Orofaciodigital Syndrome Xvii |
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Micropenis, Renal hypoplasia, Low-set ears, Hearing impairment |
OMIM:617926 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla... |
OMIM:309520 |
Wildervanck Syndrome |
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Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Fused cervica... |
ORPHA:3456 |
Pycnodysostosis |
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Obtuse angle of mandible, Persistent open anterior fontanelle, Abnormal clavicle morphology, Decr... |
ORPHA:763 |
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