Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Coxoauricular Syndrome |
|
Microtia, Hearing impairment |
OMIM:122780 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Meier-Gorlin Syndrome 8 |
|
Micrognathia, Bilateral cryptorchidism, Microtia, Low-set ears, Decreased body weight, Intrauteri... |
OMIM:617564 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Abnormal middle ear mor... |
ORPHA:79113 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Bifid nasal tip, Microtia |
OMIM:608393 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... |
OMIM:612290 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Micrognathia |
ORPHA:2015 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose |
OMIM:155050 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Microtia, Conductive hearing impairment |
OMIM:248910 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility |
OMIM:615413 |
Wilson-Turner Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Uplifted earlobe, Micrognathia, Broad nasal tip, Cr... |
ORPHA:3459 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Round ear |
ORPHA:1450 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Micrognathia, Wide n... |
ORPHA:1703 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Acrocephalopolydactyly |
|
Short nose, Microtia, Depressed nasal ridge |
ORPHA:221054 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Microtia, Anteverted nares, Underdeveloped nasal alae |
OMIM:612138 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Hearing impairment |
OMIM:300719 |
6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Depressed nasal bridge, Anteverted nares, Micrognathia, Bulbous nose, Ob... |
ORPHA:171829 |
Deafness, X-Linked 7 |
|
Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditory canal, Stenosis of ... |
OMIM:301018 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Conductive h... |
OMIM:184460 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Bifid nasal tip, Microtia, Atresia of the external auditory canal, Bifid nose, Conductive hearing... |
ORPHA:2213 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
ORPHA:46 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... |
OMIM:144300 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
3-Hydroxyisobutyric Aciduria |
|
Intrauterine growth retardation, Microtia, Hypogonadotropic hypogonadism, Micrognathia |
ORPHA:939 |
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 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Wide nose, Micrognathia, Microtia, Low-set ears, Decreased body weight, Thick nasal alae |
ORPHA:357175 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Anteverted nares, Micrognathia, Depressed nasal ridge, Low-set ears, Ma... |
ORPHA:1832 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder, Secondary amenorrhea |
OMIM:301033 |
X-Linked Intellectual Disability, Van Esch Type |
|
Failure to thrive, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Male hypogonadi... |
ORPHA:163976 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Micrognathia, Short nose, Failure to thrive, Abnormality of the outer ear |
ORPHA:217340 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Wide nose, Micrognathia, Microtia, Low-set ears, Decreased body weight, Thick nasal alae |
OMIM:615162 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Cupped ear, ... |
OMIM:616367 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
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 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Dental malocclusion, Horner syndrome, Microtia, Short mandibular rami |
OMIM:141300 |
Branchiootic Syndrome |
|
Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, Atres... |
ORPHA:52429 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Thickened helices |
ORPHA:261295 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Short mandibular rami, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Wide nasal bridge, Abnormal earlobe morphology, Microtia, Low-s... |
ORPHA:217017 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr... |
ORPHA:3236 |
Humeroradial Synostosis |
|
Small earlobe, Microtia, Wide nasal bridge |
OMIM:236400 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Aural Atresia, Congenital |
|
Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Cupped ear, Microtia, Low-set ear... |
OMIM:619873 |
Isotretinoin Syndrome |
|
Abnormality of the outer ear, Microtia, Depressed nasal bridge, Micrognathia |
ORPHA:2305 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Optic atrophy, Microtia, Short nose, H... |
ORPHA:1914 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Otofaciocervical Syndrome |
|
Depressed nasal bridge, Anteverted nares, Protruding ear, Abnormal antihelix morphology, Atresia ... |
ORPHA:2792 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Microtia, Micrognathia |
ORPHA:2547 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Carious teeth, Bulbous nose, Anosmia, Protruding ear, Microtia, At... |
ORPHA:2316 |
Oculoauriculofrontonasal Syndrome |
|
Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Micrognathia, Microtia, Conductive hearing... |
ORPHA:398156 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Micrognathia, Microtia, Atresia of the external auditory canal, Bifid nose, Cond... |
OMIM:239800 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Macrotia, Depressed nasal bridge |
ORPHA:438178 |
Catifa Syndrome |
|
Delayed eruption of teeth, Microtia, Anteverted nares |
OMIM:618761 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Short nose, Convex nasal... |
ORPHA:1695 |
Coxoauricular Syndrome |
|
Microtia, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1508 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Microtia |
ORPHA:139450 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Obesity, Short columella, Microtia, Low-s... |
ORPHA:171839 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Microtia, Hypoplasia of the zygomatic bone, Micrognathia |
OMIM:248390 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, S... |
OMIM:249620 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Abnormal antihelix morphology, Microtia, Short nose, Convex nasal ridge |
ORPHA:2145 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Micrognathia |
OMIM:300946 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Failure to thrive, Sensorineural hearing impairment |
OMIM:618379 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Posteriorly rot... |
OMIM:618829 |
Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Abnormality of the middle ear ossicles, Trismus, Sensorineural hearing ... |
OMIM:609166 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Continuous spike and waves during slow sleep, Short nose, EEG with centrotemporal focal spike wav... |
OMIM:245570 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Fusion of middle ear ossicles, Anotia, Microtia... |
OMIM:613717 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Weiss-Kruszka Syndrome |
|
Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Microtia, Low... |
OMIM:618619 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Congenital sensorineural hearing impairment, Hypergonadotropic hypogonadism, Elevated circulating... |
OMIM:617872 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... |
OMIM:620211 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Anteverted nares, Obesity, EEG abnormality, Hypoplasia of the ... |
ORPHA:1035 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Microtia |
OMIM:618158 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Wide nose, Anteverted nares, Obesity, Microtia, Low-set ears, Hearing impairment |
OMIM:619056 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Posteriorly rotated ears, Anteverted nares, Delayed eruption of permanent teeth, Low-set ears, Sh... |
OMIM:618506 |
Microtia-Anotia |
|
Anotia, Microtia |
OMIM:600674 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide nasal bridge, Microtia, Recurrent ... |
OMIM:602562 |
17P13.3 Microduplication Syndrome |
|
Low-set ears, Wide nose, Short nose |
ORPHA:217385 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge, Micrognathia |
ORPHA:261120 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Micrognathia, Overfolded helix, Microtia, Atresia of the exter... |
OMIM:610536 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Short nose, Depressed nasal bridge, Low-set ears |
OMIM:616910 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... |
OMIM:613804 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Mandibular prognathia, Depressed nasal bridg... |
ORPHA:1327 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnorma... |
ORPHA:1642 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, EEG abnormality, Short nose, Macrotia |
ORPHA:99688 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Retrognathia, Atresia of the external auditory canal, Hearing impairment |
OMIM:619981 |
Even-Plus Syndrome |
|
Bifid nasal tip, Short nose, Microtia, Depressed nasal ridge |
OMIM:616854 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Obesity, Large earlobe, Low-set ears, Short nose, Low h... |
OMIM:617752 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Severe sensorineural hearing impairment, Short nose, Microtia, Low-set, posteriorly rotated ears |
ORPHA:2983 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abn... |
ORPHA:949 |
Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Micrognathia, Optic atrophy, Protruding ear |
ORPHA:1495 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Low-set ears, EEG with burst suppression, Wide nasal bridge, Aplasia/Hypoplasia of the external ear |
ORPHA:168486 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Microtia, Failure ... |
OMIM:616977 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Microtia, Low-set... |
OMIM:613320 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Anotia, Mi... |
OMIM:616462 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Micrognathia, Cupped ear, Microtia, Conductive hearing impairm... |
ORPHA:246 |
Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, Micrognathia, Long nose, Prominent nose, Microtia |
OMIM:164220 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Posteriorly rotated ears, Micrognathia, Long nose, Microtia, Low-set ears, Decreased body weight,... |
OMIM:618336 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Recurrent upper respiratory tract infections, Microtia |
OMIM:620137 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Microtia, Depressed nasal bridge, Hearing impairment |
OMIM:616006 |
Atelis Syndrome 1 |
|
Carious teeth, Glue ear, Microtia, Prominent nose |
OMIM:620184 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Microtia, Micrognathia |
OMIM:243440 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Slender nose, Micrognathia, Optic atrophy, Low-set ear... |
OMIM:615419 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Sensori... |
ORPHA:1529 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Wide nasal bridge, Obesity, Hypoplasia of teeth, Retrognathia, Microtia, Short nose... |
OMIM:620250 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Obesity |
OMIM:300577 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:2370 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Cupped ear... |
OMIM:613870 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Microretrognathia, Short stature, Microtia, Delayed puberty |
ORPHA:2994 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Abnormal nasal morphology, Hypoplasia of the max... |
ORPHA:245 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Facial palsy, Micrognathia, S... |
OMIM:614744 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Chung-Jansen Syndrome |
|
Anteverted nares, Micrognathia, Obesity, Large earlobe, Short nose, Macrotia |
OMIM:617991 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Abnormal nasal morphology, Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Mi... |
ORPHA:2878 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Broad nasal tip, Overweight, Recurrent upper respiratory tract infections,... |
ORPHA:391372 |
Perlman Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Low-set ears, Thicke... |
ORPHA:2849 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Microtia, Low-set ears, Malar flattening |
OMIM:301025 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... |
OMIM:618774 |
Lambotte Syndrome |
|
Atresia of the external auditory canal, Macrotia, Convex nasal ridge, Retrognathia |
OMIM:245552 |
Short Stature And Facioauriculothoracic Malformations |
|
Overfolded helix, Cupped ear, Microtia, Low-set ears |
OMIM:609654 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Verloove Vanhorick-Brubakk Syndrome |
|
Microtia, Atresia of the external auditory canal, Low-set ears, Micrognathia |
ORPHA:3429 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulbous nose, Wide nasal bridge, Low-se... |
OMIM:613604 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Obesity, Short nose, Retrognathia |
OMIM:613670 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Microtia |
OMIM:168550 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Low-set ears, Short nose, Failure to thrive |
ORPHA:1895 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment |
OMIM:302950 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... |
OMIM:613805 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Short nose, Uplifted earlobe |
OMIM:300143 |
Pierpont Syndrome |
|
Wide nose, Posteriorly rotated ears, Broad nasal tip, Large fleshy ears, Decreased body weight, S... |
OMIM:602342 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea... |
OMIM:608257 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, Overfolded helix, Abnormal helix morphology, Low-set ears, ... |
ORPHA:1913 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Cupped ear, Hypoplastic nasal ... |
ORPHA:40366 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Seckel Syndrome 7 |
|
Severe short stature, Prominent nose, Primary amenorrhea, Microtia, Intrauterine growth retardation |
OMIM:614851 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Low-set e... |
OMIM:614069 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones |
ORPHA:2773 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen... |
OMIM:606164 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Sweeney-Cox Syndrome |
|
Choanal atresia, Uplifted earlobe, Broad nasal tip, Underdeveloped nasal alae, Hearing impairment... |
OMIM:617746 |
Mast Cell Sarcoma |
|
Weight loss, Hypoplasia of the ear cartilage |
ORPHA:66661 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Anteverted ears, Aplasia of the inner ear, Peg-shaped maxillary lateral incisors, M... |
OMIM:610706 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the temporomandibular joint, Abnormal pinna mor... |
ORPHA:137888 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Underdeveloped nasal alae, Prominent nose, Micrognathia, Sensorineural hearing impairment, Supern... |
ORPHA:90024 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, Sensorineural... |
ORPHA:2980 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Femoral-Facial Syndrome |
|
Short nose, Microtia, Low-set ears, Micrognathia |
ORPHA:1988 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Underdevel... |
OMIM:616835 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Short columella, Microtia |
ORPHA:1770 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Cryptorchidism, Hypoplasia of teeth, Microtia, Recurrent otitis med... |
ORPHA:2728 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Prominent nasal bridge, Micrognathia, Broad nasal tip, Low-set ears, Short nose |
OMIM:613544 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Wide nose, Failure to thrive, Short stature, Prominent nasal bridge, Cryptorchidism, Retrognathia... |
ORPHA:505237 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Choanal atresia, Micrognathia, Microtia, Atresia of the external audito... |
OMIM:613309 |
Grant Syndrome |
|
Wormian bones, Micrognathia |
OMIM:138930 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Micrognathia, Retrognathia, Low-set ears, Short nose, Thick nasal alae |
ORPHA:163961 |
Chromosome 16Q22 Deletion Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Small for gestational age, Micrognathia, Postna... |
OMIM:614541 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Abnormal pinna morphology, Anteverted nares, Bulbous nose, Wide nasal ... |
ORPHA:1231 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Carious teeth, Short nose, Macrotia, Hearing... |
ORPHA:2701 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Facial palsy, Prominent nose, Micrognathia, Bulbous nose, Sensorineural h... |
OMIM:301022 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Large earlobe, Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:615716 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Microtia, Posteriorly rotated ears, Obesity, Low-set ears |
OMIM:618089 |
Hao-Fountain Syndrome |
|
Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short nose, Macrotia, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:613443 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Macrotia, Wide nasal bridge, Short nose |
OMIM:620292 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Failure to... |
OMIM:616420 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Posteriorly rotated ears, Micrognathia, Prominent nose, Underdeveloped... |
ORPHA:447980 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Hearing abnormality, Cupped ear, Wide nasal bridge, Microtia |
ORPHA:1352 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Microtia, Retrognathia, Narrow nose |
OMIM:212112 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Anteverted nares, Wide nasal bridge, Low-set ears, Enamel agenesis, Short nose |
OMIM:614701 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:133705 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
OMIM:218000 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Prominent nose, Obesity, Primary amenorrhea, Severe postnatal growth retardation, ... |
ORPHA:319675 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Primary amenorrhea |
OMIM:612526 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Thickened h... |
OMIM:618828 |
Codas Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morph... |
ORPHA:1458 |
Peho-Like Syndrome |
|
Short nose, Retrognathia, Optic atrophy, Hypsarrhythmia |
OMIM:617507 |
Meier-Gorlin Syndrome 2 |
|
Short stature, Abnormal pinna morphology, Micrognathia, Underdeveloped nasal alae, Birth length l... |
OMIM:613800 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Mic... |
ORPHA:1716 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Overfo... |
ORPHA:2083 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Wide nasal bridge, Microtia, Sho... |
OMIM:613603 |
Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Prominent crus of helix, External ear malformatio... |
ORPHA:794 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, Onychotillomania, Hypercholester... |
OMIM:182290 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Depressed nasal bridge, Microtia, Anteverted nares, Wide nasal bridge |
ORPHA:163654 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Lo... |
OMIM:616430 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Bilateral conductive hearing impairment, Atresia of the external auditory canal |
ORPHA:2010 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Atresia of the external auditory canal, Cond... |
ORPHA:1488 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Abnormal pinna morphology, Small for gestational age, Micrognathia, Recurrent upper respiratory t... |
ORPHA:3078 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Carious teeth, Cupped ear, Microtia, Hearing impairment |
OMIM:620192 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, T... |
ORPHA:363659 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Short nose |
ORPHA:3307 |
Proximal 16P11.2 Microduplication Syndrome |
|
Failure to thrive, Microtia, Decreased body mass index |
ORPHA:370079 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Depressed nasal bridge, Low-set ears |
OMIM:614732 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Microtia, Optic atrophy |
ORPHA:1597 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Low-set ears, S... |
ORPHA:93329 |
Al-Raqad Syndrome |
|
Short nose, Low-set ears |
OMIM:616459 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Micrognathia, Bilateral conductive hearing impairment, Low-s... |
OMIM:617802 |
46,Xy Sex Reversal 4 |
|
Anteverted nares, Prominent nose, Micrognathia, Sensorineural hearing impairment, Depressed nasal... |
OMIM:154230 |
Tarp Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Optic atrophy, Wide nasal bridge, Promi... |
OMIM:311900 |
Tetraploidy |
|
Micrognathia, Convex nasal ridge, Hypoplasia of the ear cartilage |
ORPHA:3305 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anteverted nares, Posteriorly rotated ears, Failure to thrive in infancy, Micrognathia, Wide nasa... |
OMIM:611209 |
Recon Progeroid Syndrome |
|
Attached earlobe, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow ... |
OMIM:620370 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Cupped ear, Microtia, Enamel hypoplasia, Hearing impairment |
OMIM:620193 |
Hennekam-Beemer Syndrome |
|
Wide nose, Micrognathia, Long nose, Optic atrophy, Wide nasal bridge, Microtia, Conductive hearin... |
ORPHA:2135 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior, Hearing impairment |
ORPHA:208441 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Recurrent upper respiratory tract infectio... |
ORPHA:293939 |
Isolated Cleft Lip |
|
Small for gestational age, Abnormal Eustachian tube morphology, Supernumerary maxillary incisor, ... |
ORPHA:199302 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... |
ORPHA:1248 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Bulbous nose, Atresia of the external auditory canal, Low-set ears, Fai... |
ORPHA:2328 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Low-set, posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Obesity, Intrauter... |
ORPHA:254525 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Low-set ears, Short nose, Failure to thrive |
OMIM:242860 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Depressed nasal bridge, Broad nasal tip, Short nose, Hearing impairment |
OMIM:619736 |
Ohdo Syndrome, X-Linked |
|
Depressed nasal bridge, Posteriorly rotated ears, Prominent nose, Micrognathia, Bulbous nose, Wid... |
OMIM:300895 |
Toluene Embryopathy |
|
Micrognathia, Protruding ear, Hypoplasia of the zygomatic bone, Low-set ears, Short nose |
ORPHA:1920 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Prominent nose, Micrognathia, Bulbous nose, Cupped ear, Depressed nasal ri... |
OMIM:156200 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Hypoplasia of the maxilla, Optic atrophy, Low-set ears, Sho... |
OMIM:614261 |
Miller-Dieker Syndrome |
|
EEG abnormality, Short nose, Anteverted nares |
ORPHA:531 |
Non-Distal Duplication 13Q |
|
Abnormal antihelix morphology, Short nose, Aplasia/Hypoplasia of the earlobes, Micrognathia |
ORPHA:1702 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Rhizomelia, Posteriorly rotated ears, Small for gestational age, Prominent... |
OMIM:614813 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Atresia of the external audi... |
OMIM:243180 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Prominent nasal bridge, Microtia, Intrauterine growth retardation, Malar flatt... |
ORPHA:1788 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Short nose, Posteriorly rotated ears |
OMIM:300887 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose |
OMIM:610015 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity, Bulbous nose, Anteverted nares, Short nose |
ORPHA:969 |
Distal Triplication 15Q |
|
Micrognathia, Large for gestational age, Sensorineural hearing impairment, Cupped ear, Hydrocele ... |
ORPHA:314588 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Truncal obesity, Short nose |
ORPHA:2429 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Meckel Syndrome, Type 8 |
|
Short nose, Depressed nasal ridge, Low-set ears |
OMIM:613885 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Sensorineural hearing impairm... |
OMIM:619518 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Overfolded helix, Low-set ears, Short nose, Failure to thrive |
OMIM:613735 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry... |
ORPHA:261529 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Micrognathia, Sensorineural hea... |
ORPHA:2789 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Protruding ear, Abnormal antihelix m... |
ORPHA:261144 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear... |
ORPHA:2306 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, EEG abnormality |
OMIM:618218 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Failure to thrive, Depressed nasal bridge, Low-set ears |
OMIM:608776 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Abnormal columella morphology, Microtia, Overfolded heli... |
ORPHA:436003 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Anteverted nares, Micrognathia, Sensorineural hearing impai... |
OMIM:617201 |
Chanarin-Dorfman Syndrome |
|
Sensorineural hearing impairment, Microtia |
OMIM:275630 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short nose, Microtia, Depressed nasal bridge, Low-set ears |
OMIM:616723 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia, Depression |
ORPHA:77296 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Retrognathia, Low-set ears... |
OMIM:243310 |
Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Microtia, Low-set ears, Decreased body we... |
OMIM:608013 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Short nose, Multifocal epileptiform discharges, Mandibular prognathia |
OMIM:618087 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Abnormal pinna morphology, Long nose, Bulbous nose, Absent n... |
ORPHA:261211 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose, Sensorineural hearing impairment |
ORPHA:90653 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge, Sensorineural hearing impairment |
ORPHA:2143 |
Congenital Disorder Of Deglycosylation 2 |
|
Micrognathia, Short columella, Microtia, Cleft earlobe, Hearing impairment |
OMIM:619775 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Sensorineural hearing impairment... |
ORPHA:79237 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Low-set ears, Short ... |
OMIM:619859 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Short stature, Small for gestational age, Micrognathia, Postnatal grow... |
ORPHA:73272 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Microtia, Retr... |
OMIM:608149 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Microtia |
OMIM:619817 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Abnormal antihelix morphology, Low-set ears, Short nose |
ORPHA:1699 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Short nose, Depressed nasal ridge, Low-set ears |
OMIM:300863 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Multifocal epilep... |
ORPHA:369891 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Multiple Synostoses Syndrome 1 |
|
Stapes ankylosis, Underdeveloped nasal alae, Wide nasal bridge, Progressive conductive hearing im... |
OMIM:186500 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Microtia, Micrognathia, Hearing impairment |
ORPHA:1926 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Obesity, Low-set ears, Short nose |
OMIM:618430 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Van Maldergem Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment... |
OMIM:615546 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Obesity |
OMIM:611936 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Micrognathia, Optic atrophy, Large earlobe, Short nose, Failure to thrive |
OMIM:615851 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Depressed nasa... |
ORPHA:1912 |
Van Maldergem Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Dental malocclusion, W... |
OMIM:601390 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... |
OMIM:122880 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Optic atrophy, Retrognathia, Conductive hearing impairment, Sh... |
ORPHA:561 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Micrognathia, Decreased nerve conduction velocity, Optic atrophy, Short nose, Hearing impairment |
OMIM:256600 |
Temple Syndrome |
|
Hypertriglyceridemia, Posteriorly rotated ears, Cryptorchidism, Hypercholesterolemia, Decreased t... |
OMIM:616222 |
Dend Syndrome |
|
Short nose, Anteverted nares, Thickened ears, Hypsarrhythmia |
ORPHA:79134 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Cachexia |
ORPHA:1389 |
Bazex-Dupré-Christol Syndrome |
|
Macrotia, Hypoplasia of the ear cartilage |
ORPHA:113 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Short nose, Hear... |
ORPHA:284169 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... |
ORPHA:2031 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Short stature, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia,... |
OMIM:613803 |
Potocki-Shaffer Syndrome |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Microtia, Anotia, Atresia of the external auditory canal, Bifid nose, Hearing impai... |
ORPHA:268249 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Micrognathia, Wide nasal bridge, Truncal obesity, Mic... |
ORPHA:529962 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Failure to thrive, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Carious teeth, Wide... |
OMIM:613026 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Small for gestational age, Micrognathia, Sensorineural hearing impai... |
ORPHA:391408 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Posteriorly rotated ears, Microtia, Low-set ears, Short nose, Hearing imp... |
OMIM:601353 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short nose, Depressed nasal ridge, Low-set ears, Micrognathia |
ORPHA:163966 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Microtia, Short nose, Hearing impairment |
ORPHA:2282 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Depressed nasal bridge, Anteverted nares, Underfolded helix, Prominent nose, Posteriorly rotated ... |
OMIM:618316 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Micrognathia, Choanal stenosis, Severe sensorineural hearing impairment, Conductive hearing impai... |
OMIM:620186 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microtia, Low-set ears |
OMIM:612530 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Interictal EEG abnormality, Sensorineural hearing impairment, EEG with focal... |
ORPHA:544503 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Postnatal growt... |
ORPHA:96184 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Silver-Russell Syndrome 3 |
|
Short stature, Unilateral cryptorchidism, Small for gestational age, Postnatal growth retardation... |
OMIM:616489 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, EEG abnormality, Atre... |
ORPHA:261236 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un... |
OMIM:615866 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Postna... |
OMIM:301040 |
16P12.1P12.3 Triplication Syndrome |
|
Bulbous nose, Retrognathia, Large earlobe, Low-set ears, Short nose, Failure to thrive |
ORPHA:485405 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Micrognathia, Wide nasal bridge, Hearing impairment |
OMIM:614078 |
Insulin-Like Growth Factor I Deficiency |
|
Short stature, Micrognathia, Postnatal growth retardation, Sensorineural hearing impairment, Decr... |
OMIM:608747 |
Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials, Abnormality of the... |
ORPHA:171929 |
Cerebrofacioarticular Syndrome |
|
Micrognathia, Bilateral choanal atresia/stenosis, Hypoplasia of the maxilla, Wide nasal bridge, M... |
ORPHA:314679 |
Trisomy 8P |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Recurrent upper respiratory t... |
ORPHA:264450 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Trismus, Dental malocclusion,... |
OMIM:227330 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Depressed nasal bridge, Small for gestational age, Depressed nasal ridge, ... |
ORPHA:99843 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Small for gestational age, EEG with multifocal slow activity |
ORPHA:289266 |
Fg Syndrome Type 1 |
|
Choanal atresia, Optic nerve hypoplasia, Prominent nose, Micrognathia, Sensorineural hearing impa... |
ORPHA:93932 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones |
ORPHA:2787 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Anteverted nares, Prominent nose, Hypsarrhythmia, Large earlobe, Microtia, Low-set ears, Failure ... |
OMIM:618076 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Optic atrophy, Anteverted nares |
ORPHA:1185 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Posteriorly rotated ears, Anterior open-bite malocclusion, Low-set ears, Conduc... |
OMIM:617877 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Anteverted nares, Posteriorly rotated ears, Small for gestational age, Micrognathia, Wide nasal b... |
OMIM:616897 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Retrograde ejaculation, Increased blood urea nitrogen |
OMIM:223360 |
Crouzon Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Optic atrophy, Atresia of the external auditory... |
OMIM:123500 |
Cog4-Cdg |
|
Hypercholesterolemia, Irritability |
ORPHA:263501 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Micrognathia, Low-set ears, Con... |
OMIM:130720 |
Buratti-Harel Syndrome |
|
Microtia, Posteriorly rotated ears, Low-set ears |
OMIM:619314 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Prominent nasal bridge, Prominent nose, Postnatal growth retardation, Disproportionate short stat... |
OMIM:210720 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Optic atrophy, Microtia |
ORPHA:3301 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Anteverted nares, Depressed nasal bridge, Postnatal growth retardation, Rhizo-meso-acromelic limb... |
OMIM:611717 |
Ear-Patella-Short Stature Syndrome |
|
Failure to thrive, Severe short stature, Microtia, third degree, Posteriorly rotated ears, Microg... |
ORPHA:2554 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the premaxilla, External ear malform... |
ORPHA:2673 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Micrognathia |
ORPHA:2598 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Wide anterior fontanel, Delayed eruption of permanent teeth, Joint contracture ... |
OMIM:113000 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Carious teeth, Wide anterior fontanel, Cubitus valgus, Genu v... |
OMIM:269300 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Mi... |
ORPHA:819 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Abnormal antihelix morph... |
ORPHA:261112 |
Pfeiffer Syndrome Type 1 |
|
Short nose, Depressed nasal bridge, Low-set ears, Hearing impairment |
ORPHA:93258 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Wide nasal bridge, Atresia of the external auditory canal, Conductive ... |
OMIM:106260 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Posteriorly rotated ears, Abnormal dental enamel m... |
ORPHA:439822 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Optic atrophy, Wide nasal bridge, Low-set ears, Short nose... |
OMIM:619383 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Hypercholesterolemia |
ORPHA:254531 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Anteverted nares, Abnormal pinna morphology, Anteverted ears, Wide nasal bridge, Microtia, Low-se... |
OMIM:617641 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Wormian bones, Wide anterior fontanel |
OMIM:601356 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
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Optic disc pallor, Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Micrognathia,... |
OMIM:300749 |
Pfeiffer Syndrome Type 2 |
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Depressed nasal bridge, Choanal atresia, Atresia of the external auditory canal, Low-set ears, Sh... |
ORPHA:93259 |
Ayme-Gripp Syndrome |
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Mandibular prognathia, Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing im... |
OMIM:601088 |
Spermatogenic Failure 38 |
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Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Trichothiodystrophy 4, Nonphotosensitive |
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Anteverted nares, Optic atrophy, Retrognathia, Hypoplasia of teeth, Short nose, Macrotia |
OMIM:234050 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Depressed nasal bridge, Anteverted nares, Micrognathia, EEG abnormality, Low-set ears, Short nose |
ORPHA:314655 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Anteverted nares, Failure to thrive in infancy, Bulbous nose, Microtia, Low-set ears, Recurrent o... |
ORPHA:261323 |
Robinow Syndrome, Autosomal Recessive 2 |
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Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Micrognathia, Wide nasal bridge, Low... |
OMIM:618529 |
Schinzel-Giedion Syndrome |
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Delayed eruption of teeth, Abnormality of the stapes, Failure to thrive in infancy, Aganglionic m... |
ORPHA:798 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Gomez-Lopez-Hernandez Syndrome |
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Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears |
OMIM:601853 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
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Short nose, Protruding ear |
OMIM:615539 |
Treacher-Collins Syndrome |
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Failure to thrive, Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia o... |
ORPHA:861 |
Microphthalmia With Limb Anomalies |
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Posteriorly rotated ears, Depressed nasal bridge, Flared nostrils, Retrognathia, Low-set ears, Sh... |
OMIM:206920 |
Ciliary Dyskinesia, Primary, 37 |
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Chronic rhinitis, Female infertility, Hearing impairment |
OMIM:617577 |
Barber-Say Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Extra concha fold,... |
OMIM:209885 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Depressed nasal bridge, Small for gestational age, Sensorineural hearing impairment, Microtia, Hy... |
OMIM:618500 |
Developmental And Epileptic Encephalopathy 75 |
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Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Hypsarrhythmia, Short nose |
OMIM:618437 |
Jaberi-Elahi Syndrome |
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Depressed nasal bridge, Optic atrophy, Protruding ear, Low-set ears, Short nose, Failure to thrive |
OMIM:617988 |
Chromosome 16P13.3 Duplication Syndrome |
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Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulb... |
OMIM:613458 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Optic atrophy, Short nose, Failur... |
OMIM:619833 |
Arthrogryposis, Distal, Type 2A |
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Mandibular prognathia, Small for gestational age, Abnormal auditory evoked potentials, Underdevel... |
OMIM:193700 |
Acrodysostosis |
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Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... |
ORPHA:950 |
Peho Syndrome |
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Anteverted nares, External ear malformation, Optic atrophy, Hypsarrhythmia, EEG abnormality, Shor... |
ORPHA:2836 |
Otosclerosis 8 |
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Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
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Otosclerosis, Hearing impairment |
OMIM:608244 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Lowry-Maclean Syndrome |
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Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talo... |
ORPHA:2409 |
Craniosynostosis 2 |
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Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostosis, Wormian bones, ... |
OMIM:604757 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
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Short nose, Anteverted nares, Obesity |
OMIM:619854 |
Bosma Arhinia Microphthalmia Syndrome |
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Abnormal pinna morphology, Choanal atresia, Absent tragus, Anosmia, Dental malocclusion, Hypoplas... |
OMIM:603457 |
Intellectual Disability-Strabismus Syndrome |
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Failure to thrive, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Micrognathia, Low-... |
ORPHA:363528 |
Spermatogenic Failure, X-Linked, 7 |
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Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Craniodigital-Intellectual Disability Syndrome |
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Narrow nasal bridge, Short nose, Micrognathia |
ORPHA:1514 |
Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Sensorineur... |
OMIM:616580 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... |
ORPHA:3077 |
Faundes-Banka Syndrome |
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Micrognathia, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Cupped ear, Microtia, Long... |
OMIM:619376 |
Prolactin Deficiency, Isolated |
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Irregular menstruation, Infertility |
OMIM:264110 |
Scalp-Ear-Nipple Syndrome |
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Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Underdeveloped antitragus, Poste... |
OMIM:181270 |
Fanconi Anemia, Complementation Group L |
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Micrognathia, Wide nasal bridge, Depressed nasal tip, Microtia, Anotia, Low-set ears |
OMIM:614083 |
Craniosynostosis 4 |
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Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Malar ... |
OMIM:600775 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
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Microretrognathia, Bulbous nose, Wide nasal bridge, Protruding ear, Low-set ears, Short nose |
OMIM:618571 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Short nose, Anteverted nares, Wide nasal bridge, Micrognathia |
OMIM:618577 |
Pelvis-Shoulder Dysplasia |
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Abnormal pinna morphology, Short stature, Mesomelic/rhizomelic limb shortening, Micrognathia, Neo... |
ORPHA:2839 |
Desmosterolosis |
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Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Cupped ear, L... |
OMIM:602398 |
Ring Chromosome 12 Syndrome |
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Microtia, Small for gestational age, Low-set ears |
ORPHA:1439 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Depressed nasal bridge, Micrognathia, Bulbous nose, Wide nasal bridge, Retrognathia, Overfolded h... |
OMIM:617061 |
8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Micrognathia, External ear malformation, Wide nasal bridge, Obesity, Weig... |
ORPHA:251071 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Cleft mandible, S... |
ORPHA:364577 |
Tetrasomy 5P |
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Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide nasal bridge, Low-set ears, Short ... |
ORPHA:3309 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Oligomenorrhea, Hypercholesterolemia, Amenorrhea |
ORPHA:528 |
Distal Duplication 5Q |
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Prominent nasal bridge, Micrognathia, Carious teeth, Low-set ears, Short nose, Macrotia |
ORPHA:96097 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Cupped ear, Irregula... |
OMIM:110100 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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Conductive hearing impairment, Micrognathia, Atresia of the external auditory canal, Simple ear |
OMIM:602471 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... |
OMIM:300539 |
Osteopathia Striata With Cranial Sclerosis |
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Natal tooth, Posteriorly rotated ears, Facial palsy, Micrognathia, Dental malocclusion, Wide nasa... |
OMIM:300373 |
1P21.3 Microdeletion Syndrome |
|
Micrognathia, Broad nasal tip, Obesity, Long ear, Short nose |
ORPHA:293948 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Hypoplasia of the nasal bone, Moderate postnatal growth retardation |
OMIM:118650 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
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Short nose |
ORPHA:833 |
Fetal Alcohol Syndrome |
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Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Micrognathia |
ORPHA:1915 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Cutis Laxa, Autosomal Recessive, Type Iia |
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Anteverted nares, Carious teeth, Low-set ears, Short nose, Failure to thrive |
OMIM:219200 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Aganglionic megacolon, Underdeveloped nasal alae, Congenital sensorineural... |
ORPHA:894 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Failure to thrive, Microtia, Small for gestational age, Low-set ears |
OMIM:277380 |
Congenital Analbuminemia |
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Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Postnatal growth retardation, Large for g... |
ORPHA:254519 |
Verheij Syndrome |
|
Small for gestational age, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Wide nasal ... |
OMIM:615583 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Hypomandibular Faciocranial Dysostosis |
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Anteverted nares, Optic disc coloboma, Choanal stenosis, Low-set ears, Short nose, Maxillozygomat... |
ORPHA:1790 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Conductive hearing impairment, Stenosis of the external auditory canal, Microtia |
OMIM:171480 |
Congenital Disorder Of Glycosylation, Type Iu |
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Short nose, Optic atrophy, Micrognathia |
OMIM:615042 |
Townes-Brocks Syndrome 2 |
|
Overfolded helix, Cupped ear, Microtia |
OMIM:617466 |
Pallister-Hall Syndrome |
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Natal tooth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Posteriorly rotated ears,... |
OMIM:146510 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Failure to thrive, Depressed nasal bridge, Anteverted nares, Prominent nas... |
OMIM:300912 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Failure to thrive in infancy, Prominent nose, Sens... |
OMIM:601808 |
Micro Syndrome |
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Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Optic atrophy, Wide nasal brid... |
ORPHA:2510 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Microretrognathia, Septo-optic dysplasia, Aganglionic megacolo... |
ORPHA:59315 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone, Short nose, Depressed nasal bridge |
ORPHA:2835 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Female infertility, Nasal congestion, Recurrent otitis media, ... |
ORPHA:244 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Stapes ankylosis, Wide nose, Papilledema, Depressed nasal bridge, Convex n... |
OMIM:614188 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Optic nerve hypoplasia |
ORPHA:228384 |
Galloway-Mowat Syndrome |
|
EEG abnormality, Macrotia, Micrognathia, Hypoplasia of the ear cartilage |
ORPHA:2065 |
Axial Mesodermal Dysplasia Spectrum |
|
Microtia, Short stature, Micrognathia |
ORPHA:1834 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Short nose, Optic atrophy, Micrognathia |
OMIM:617183 |
Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Asymmetry of the ears, Optic atrophy, Short nose, Macrotia |
OMIM:614225 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... |
ORPHA:49041 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Depressed nasal bridge, Short nose, Retrognathia, Dentinogenesis imper... |
ORPHA:166272 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Obesity, Short nose |
OMIM:614613 |
C Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide nasal bridge, Low-set ears, Short ... |
OMIM:211750 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Hypoplasia of the zygomatic... |
ORPHA:83 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Abnormal zygomatic bone morphology, Large fontanelles, Malar flattening, A... |
ORPHA:2511 |
Cadds |
|
Short nose, Micrognathia, Sensorineural hearing impairment |
ORPHA:369942 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Small for gestational age, Micrognathia, Bulbous nose, Low-set ears, Roun... |
OMIM:614114 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Orofaciodigital Syndrome Type 4 |
|
Wide nose, Microtia, third degree, Posteriorly rotated ears, Choanal atresia, Micrognathia, Abnor... |
ORPHA:2753 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Depressed nasal bridge, Abnormal auditory ev... |
OMIM:619260 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairme... |
OMIM:222448 |
Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hypoplasia of the maxilla, M... |
ORPHA:920 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Underdeveloped antitragus, Abnormal antihelix morphology, Microtia, Sm... |
ORPHA:2036 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Depressed nasal bridge, Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Carious teeth, ... |
OMIM:616734 |
Aymé-Gripp Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing impairment, EEG abnormali... |
ORPHA:1272 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormality of the nose, Micrognathia,... |
ORPHA:35107 |
Distal Deletion 12Q |
|
Short stature, Unilateral cryptorchidism, Anteverted nares, Micrognathia, Failure to thrive in in... |
ORPHA:96149 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Micrognathia, Microtia, Aplasia of the nose, Low-s... |
OMIM:301043 |
Down Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Depressed nasal ridge, Obesity, Round ear, Conduct... |
ORPHA:870 |
Dopamine Beta-Hydroxylase Deficiency |
|
Retrograde ejaculation, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, Large for gestational age, Multifocal epileptiform disc... |
OMIM:615398 |
Van Esch-O'Driscoll Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Depressed nasal bridge, Protruding ear, Growth dela... |
OMIM:301030 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
OMIM:103050 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Posteriorly rotated ears, Aganglionic megacolon, Broad nasal tip, Sensorin... |
OMIM:239300 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Achondrogenesis |
|
Short nose, Anteverted nares, Micrognathia |
ORPHA:932 |
Craniofacioskeletal Syndrome |
|
Posteriorly rotated ears, Short stature, Choanal atresia, Micrognathia, Cryptorchidism, Hypoplast... |
OMIM:300712 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Hypoplasia of the maxilla, Wide nasal bridge, Large earlobe, Short nose, Failur... |
OMIM:305400 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short nose, Delayed eruption of permanent teeth, Anteverted nares, Micrognathia |
OMIM:619356 |
Distal Deletion 10Q |
|
Failure to thrive, Prominent nasal bridge, Prominent nose, Micrognathia, Congenital sensorineural... |
ORPHA:96148 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Wormian bones, Camptodactyly of finger, Micrognathia |
ORPHA:2863 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Short ear, Prominent inferior crus of antihelix, Anteverted nares, Depressed... |
OMIM:618332 |
Treacher Collins Syndrome 1 |
|
Choanal atresia, Micrognathia, Microtia, Atresia of the external auditory canal, Conductive heari... |
OMIM:154500 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Wormian bones, Congenital hip dislocation |
OMIM:614450 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia |
ORPHA:3000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Large for gestational age, Mi... |
OMIM:614080 |
Toriello-Carey Syndrome |
|
Short stature, Abnormal pinna morphology, Micrognathia, Postnatal growth retardation, Cryptorchid... |
ORPHA:3338 |
Thalidomide Embryopathy |
|
Anotia, Abnormality of the outer ear, Chronic rhinitis, Hearing impairment |
ORPHA:3312 |
Bainbridge-Ropers Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
Osteogenesis Imperfecta, Type V |
|
Wormian bones, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronation/sup... |
OMIM:610967 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Micrognathia, Cryptorchidism, Anotia, Intrauterine growth retardation, Re... |
ORPHA:3412 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Micrognathia, Wide anterior fontanel, Wormian bones, Malar flattening |
ORPHA:85184 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Short nose, Anteverted nares, Cachexia |
ORPHA:884 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Talon cusp, Optic atrophy, Abnormal optic disc morpholog... |
ORPHA:363417 |
Peho Syndrome |
|
Short nose, Retrognathia, Optic atrophy, Hypsarrhythmia |
OMIM:260565 |
Trigonocephaly 1 |
|
Short nose, Wide nasal bridge |
OMIM:190440 |
Grant Syndrome |
|
Joint dislocation, Wormian bones, Large fontanelles, Micrognathia |
ORPHA:2097 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cryptorchidism, Increased blood urea nitrogen, Male hypogona... |
ORPHA:90321 |
Diamond-Blackfan Anemia 7 |
|
Recurrent otitis media, Atresia of the external auditory canal, Choanal atresia, Hearing impairment |
OMIM:612562 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Wormian bones, Dentinogenesis imperfecta |
ORPHA:166277 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Trichohepatoenteric Syndrome 1 |
|
Wide nose, Anteverted nares, Small for gestational age, Depressed nasal ridge, Microtia, Low-set ... |
OMIM:222470 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Meier-Gorlin Syndrome 1 |
|
Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length ... |
OMIM:224690 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Macrotia, Low-set ears, Short nose, Failure to thrive |
ORPHA:65286 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Underdeveloped nasal alae, Atresia of the external auditory canal, Low-... |
OMIM:618175 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Wormian bones, Dentinogenesis imperfecta |
OMIM:259420 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Microretrognathia, Carious teeth, Hypoplasia of the zygomatic ... |
ORPHA:1786 |
Fanconi Anemia, Complementation Group F |
|
Conductive hearing impairment, Failure to thrive, Microtia |
OMIM:603467 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Optic atrophy, Low-set ears, Short nose |
OMIM:618590 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Wide anterior fontanel, Abnormality of the elbow, Flat acetabular roof, Delayed pat... |
ORPHA:163649 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:614324 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Optic atrophy, Low-set ears, Sh... |
ORPHA:357001 |
Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Low-set ears, S... |
OMIM:617822 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Underdeveloped nasal alae, Sensorineural hearing impairment, Abnormal ... |
ORPHA:2315 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, Wormian bones, Malar flattening, Dentinogenesis imperfecta |
OMIM:613849 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Depressed nasal bridge, Choanal atr... |
OMIM:259775 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Hypoplasia of the zygomatic bone, Low-... |
ORPHA:1812 |
Achondrogenesis Type 1B |
|
Short nose, Anteverted nares, Micrognathia |
ORPHA:93298 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... |
ORPHA:100924 |
Meier-Gorlin Syndrome 7 |
|
Short stature, Choanal atresia, Cryptorchidism, Sensorineural hearing impairment, Wide anterior f... |
OMIM:617063 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Small for gestational age, Sensorineural hearing impairment, Low-set ears... |
OMIM:300661 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Protruding ear, Short nose, Convex nasal ridge, Hearing impair... |
ORPHA:3258 |
Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Large for gestational age, Obesity, Recurrent otitis media, Short nose |
OMIM:605309 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Warburg Micro Syndrome 3 |
|
Short nose, Macrotia, Optic atrophy, Micrognathia |
OMIM:614222 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia, Tympanosclerosis |
OMIM:240300 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Neuhauser Syndrome |
|
Large fleshy ears, Hypercholesterolemia, Cupped ear, Dysphagia |
OMIM:249310 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Abnormal pinna morphology, Depressed nasal bridge, Micrognathia, Microtia, Absent na... |
OMIM:617925 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Anteverted nares, Prominent nasal bridge, Choanal atresia, Depressed nasal bridge, P... |
OMIM:123790 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... |
ORPHA:79240 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Micrognathia, Sensorineural h... |
OMIM:616331 |
Achondrogenesis Type 1A |
|
Short nose, Anteverted nares, Micrognathia |
ORPHA:93299 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protrudin... |
ORPHA:2479 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Low-set ears, Stenosis of the external auditory canal, S... |
ORPHA:93260 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Prominent nasal tip, Wide anterior fontanel, Hypoplasia of the primary tee... |
OMIM:618371 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Anteverted nares, Overfolded helix, Large fleshy ears, Microtia, Prominent tra... |
ORPHA:280633 |
Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hypoplasia of the maxilla, Wi... |
OMIM:608156 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microtia, Optic nerve hypoplasia, Low-set ears, Retrognathia |
OMIM:614643 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, Depressed nasal bridge, Micrognathia, Microtia, Low-set ears, Prominent antitr... |
OMIM:245600 |
Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Thickened helices, Adenoiditis, Abnormality of the middle ear ossicles,... |
ORPHA:581 |
Diamond-Blackfan Anemia 11 |
|
Stenosis of the external auditory canal, Atresia of the external auditory canal |
OMIM:614900 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide nasal b... |
OMIM:247200 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Micrognathia, EEG with burst suppression, Optic atrophy, Dental malocclusion, Short nose, Failure... |
ORPHA:329178 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
EEG abnormality, Microtia |
OMIM:617798 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Short nose, Hearing impairment |
OMIM:614749 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Retrognathia, Low-s... |
OMIM:619426 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persistence of primary te... |
OMIM:265800 |
Opitz-Kaveggia Syndrome |
|
Short stature, Choanal atresia, Micrognathia, Prominent nose, Cryptorchidism, Sensorineural heari... |
OMIM:305450 |
Six2-Related Frontonasal Dysplasia |
|
Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Premature posterior fontanelle clos... |
ORPHA:488437 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, Low-set ears, Short ... |
ORPHA:357074 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:210548 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Attention deficit hyperactivity disorder, Macroorchidism, Hypercholesterolemia, Abnor... |
ORPHA:90674 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Low-set ears, Short nose |
OMIM:608022 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Wormian bones, Abnormality of the knee, Abnormality of the ankle |
ORPHA:970 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Cari... |
OMIM:164200 |
Myhre Syndrome |
|
Mandibular prognathia, Short stature, Prominent nasal bridge, Small for gestational age, Hypoplas... |
OMIM:139210 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, ... |
ORPHA:2710 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... |
ORPHA:264580 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Short nose |
ORPHA:496790 |
Saethre-Chotzen Syndrome |
|
Long nose, Prominent crus of helix, Hypoplasia of the maxilla, Cleft of chin, Microtia, Low-set e... |
OMIM:101400 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Sensorineural hearing impairment, Low-set... |
OMIM:154780 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Sensorineural ... |
ORPHA:560 |
Craniosynostosis 6 |
|
Bicoronal synostosis, Craniosynostosis, Delayed cranial suture closure, Right unilambdoid synostosis |
OMIM:616602 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Optic atrophy,... |
ORPHA:521426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Micrognathia, Optic atrophy, Microtia, Atresia of the external auditory c... |
OMIM:236670 |
Autosomal Dominant Omodysplasia |
|
Short nose, Depressed nasal bridge, Micrognathia |
ORPHA:93328 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... |
ORPHA:1791 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy |
OMIM:616881 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Abnormal pinna morphology, Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose |
OMIM:217980 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Advanced eruption of teeth, Short nose, Failure to thrive, Broad columella |
OMIM:617865 |
3C Syndrome |
|
Depressed nasal bridge, Micrognathia, Optic atrophy, Wide nasal bridge, Low-set ears, Short nose |
ORPHA:7 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormal Eustachian tube morphology, Recu... |
ORPHA:513456 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Short nose, Prominent nasal bridge, Wide nasal bridge |
ORPHA:401935 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Adnp Syndrome |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Protruding ear, Truncal obe... |
ORPHA:404448 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Retrognathia, Protruding ear, Short nose, Macrotia |
OMIM:601675 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Micrognathia, Sensorineural hearing impairment, Retrognathia, Low-set ears, Short nose... |
OMIM:608779 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Micrognathia, Optic atrophy, Low-set ears, Short nose, Failure to thrive |
OMIM:617527 |
Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares, Micrognathia |
OMIM:614524 |
Cousin Syndrome |
|
Rhizomelia, Posteriorly rotated ears, Micrognathia, Disproportionate short stature, Low-set ears,... |
OMIM:260660 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Small for gestatio... |
OMIM:257300 |
Osteogenesis Imperfecta, Type Iv |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta |
OMIM:166220 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Parietal Foramina 1 |
|
Wormian bones |
OMIM:168500 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Carious teeth, Recurrent sinusit... |
OMIM:604173 |
Pallister-Hall-Like Syndrome |
|
Short nose, Depressed nasal bridge, Micrognathia |
OMIM:241800 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Short nose, Anteverted nares, Low-set ears, Sensorineural hearing impairment |
OMIM:612394 |
Hand-Foot-Genital Syndrome |
|
Microtia |
ORPHA:2438 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Obesity, Thickened helices, A... |
ORPHA:261494 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Micrognathia, Wide nasal bridge, Microtia, Failure to thrive |
ORPHA:263508 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614105 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Concave nasal ridge, Short nose, Failure to thrive |
OMIM:170100 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, Depressed nasal tip, Severe postnatal growt... |
OMIM:620005 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Wide cranial sutures, Lambdoidal craniosynostosis, Wormian bones, Coronal cran... |
OMIM:616294 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Depressed nasal bridge, Abnormal pinna morphology, Anteverted nares, Micrognat... |
OMIM:244450 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulbous nose, O... |
OMIM:115150 |
Cole-Carpenter Syndrome 1 |
|
Micrognathia, Wormian bones, Coronal craniosynostosis, Dentinogenesis imperfecta, Orbital cranios... |
OMIM:112240 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Short stature, Hypogonadotropic hyp... |
ORPHA:138 |
Bartsocas-Papas Syndrome 1 |
|
Underdeveloped nasal alae, Hypoplasia of the maxilla, Micrognathia, Cupped ear, Microtia, Low-set... |
OMIM:263650 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Osteogenesis Imperfecta, Type Ix |
|
Wormian bones, Dentinogenesis imperfecta |
OMIM:259440 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Underfolded helix, Smal... |
OMIM:268400 |
Microlissencephaly-Micromelia Syndrome |
|
EEG abnormality, Short nose, Failure to thrive |
ORPHA:50810 |
Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Proboscis, Posteriorly rotated ears, Optic nerve hypopl... |
OMIM:605627 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Addictive alcohol use |
ORPHA:90065 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Posteriorly rotated ears, Choanal atresia, Underdeveloped nasal alae, Microtia, Overhanging nasal... |
ORPHA:163979 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Abnormal pinna morphology, Prominent nasal bridge, Abnormal ... |
OMIM:133540 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Optic atrophy, Wide nasal bridge, Microtia, Chro... |
ORPHA:280 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Short nose, Optic atrophy, Sensorineural hearing impairment |
OMIM:614863 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret... |
OMIM:614753 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Short nose, Failure to thrive |
OMIM:613038 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Shor... |
OMIM:614207 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the maxilla, Dep... |
ORPHA:79345 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micro... |
OMIM:618454 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Protruding ear, Abnormal antih... |
ORPHA:261318 |
Chops Syndrome |
|
Anteverted nares, Optic atrophy, Obesity, Thickened helices, Short nose, Hearing impairment |
OMIM:616368 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of the zygomatic bone, Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Micrognathia, Conducti... |
ORPHA:1225 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop... |
OMIM:601812 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Failure to thrive in... |
ORPHA:1340 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Micrognathia, Optic atrophy, Wide nasal bridge, Low-set ears, Short nose,... |
OMIM:613457 |
Periventricular Nodular Heterotopia 9 |
|
Squared superior portion of helix, Microtia, Posteriorly rotated ears, Interictal epileptiform ac... |
OMIM:618918 |
Mend Syndrome |
|
Prominent nasal bridge, Abnormal auditory evoked potentials, Micrognathia, Low-set ears, Abnormal... |
ORPHA:401973 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia, Optic atrophy, Protruding e... |
OMIM:230740 |
Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Abnormal pinna morphology, Anteverted nares, Low-set ears, Short nose |
OMIM:228520 |
Diamond-Blackfan Anemia |
|
Small for gestational age, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Microtia, Low... |
ORPHA:124 |
Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Choanal atresia, Abnormal dental enamel morp... |
ORPHA:2363 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Obesity, Short nose, Failure to thrive, Hearing impairment |
ORPHA:96147 |
Toriello-Lacassie-Droste Syndrome |
|
Anteverted nares, Aganglionic megacolon, Abnormality of the ear, Short nose, Failure to thrive, H... |
ORPHA:3339 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Posteriorly rotated ears, Underdeveloped nasal alae, Micrognathia, Cupped ea... |
ORPHA:264200 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size |
OMIM:610644 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Joint contracture of the hand, Delayed cranial suture closure, Metopic synostosis |
OMIM:175700 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Microretrognathia, External ear malformation, Protruding ear, ... |
ORPHA:2953 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Wide nose, Anteverted nares, Bulbous nose, Mesiodens |
ORPHA:314647 |
Cockayne Syndrome A |
|
Mandibular prognathia, Slender nose, Abnormal pinna morphology, Abnormal auditory evoked potentia... |
OMIM:216400 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Carious teeth, Wide nasal bridge, Microtia, Chronic otitis media, Short nose |
ORPHA:93 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Acrocephalopolydactylous Dysplasia |
|
Short nose, Abnormal pinna morphology, Low-set ears |
OMIM:200995 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Prominent nasal bridge, Micrognathia, Dental malocclusion, Low-set ears, Short nose, A... |
ORPHA:251028 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Retrognathia, Micrognathia |
OMIM:617808 |
Fraser Syndrome 1 |
|
Wide nose, Cleft ala nasi, Depressed nasal bridge, Abnormal pinna morphology, Underdeveloped nasa... |
OMIM:219000 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Fraser Syndrome 2 |
|
Wide nose, Atresia of the external auditory canal, Low-set ears, Underdeveloped nasal alae |
OMIM:617666 |
Cardiospondylocarpofacial Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Bulbous ... |
OMIM:157800 |
Otopalatodigital Syndrome, Type I |
|
Conductive hearing impairment, Short nose, Multiple impacted teeth, Wide nasal bridge |
OMIM:311300 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Depressed nasal bridge, Micrognathia, Low-set ears, Short nose, Failur... |
ORPHA:90652 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Short nose |
ORPHA:1394 |
Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose |
OMIM:258480 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Short nose, Prominent nasal bridge, Wide nasal bridge |
OMIM:619179 |
Osteogenesis Imperfecta, Type Xxii |
|
Wormian bones, Dentinogenesis imperfecta |
OMIM:619795 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choan... |
OMIM:166250 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Choana... |
OMIM:101600 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Long nose, Carious te... |
OMIM:619522 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Short nose |
OMIM:145420 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, Overfolded heli... |
ORPHA:1974 |
Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Malar flattening, Micrognathia, Postnatal growt... |
OMIM:113620 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Low-set ears, Short nose |
OMIM:200600 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Wide nose, Short stature, Posteriorly rotated ears, Anteverted nares, Depr... |
ORPHA:96334 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Elbow dislocation, Large fontanelles, Delayed cranial suture closure |
ORPHA:2249 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Delayed eruption of primary teeth,... |
ORPHA:763 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Anteverted nares, Cachexia, Micrognathia, Short nose, Macrotia |
ORPHA:109 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Sensorineural hearing impairment, Depr... |
ORPHA:1606 |
Smith-Kingsmore Syndrome |
|
Short nose, Depressed nasal bridge, Large for gestational age |
OMIM:616638 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Lathosterolosis |
|
Anteverted nares, Micrognathia, Bulbous nose, Short nose, Failure to thrive, Hearing impairment |
ORPHA:46059 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Marshall-Smith Syndrome |
|
Microretrognathia, Prominence of the premaxilla, Depressed nasal bridge, Anteverted nares, Choana... |
OMIM:602535 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Large earlobe, Hypoplasia of the ear cartilage |
ORPHA:1236 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Atresia of the external auditory canal, Abnormality of the outer ear, Aplasia of the nose, Hearin... |
ORPHA:3186 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Dental malocclusion, Wide nasal bridge, L... |
OMIM:616894 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Abnormal dental enamel morphology, Tarsal synostosis, Micrognathia, W... |
ORPHA:85199 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones |
OMIM:259410 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Depressed nasal bridge, Posteriorly rotated ears, Asymmetry of the ears, Thick... |
OMIM:607872 |
Jacobsen Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Optic atrophy, Low-set ears, Short nose, ... |
OMIM:147791 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Triangular nasa... |
OMIM:309580 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Micrognathia, EEG abnormalit... |
OMIM:619005 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Large for gestational age, Thickened ears, Low-set ears, Short nose |
ORPHA:77301 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Micrognathia, Low-set ears, Short nose |
ORPHA:50945 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Rhizomelia... |
ORPHA:93357 |
Desbuquois Dysplasia 1 |
|
Microretrognathia, Depressed nasal bridge, Obesity, Concave nasal ridge, Short nose |
OMIM:251450 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Sensorine... |
OMIM:616007 |
Acrofacial Dysostosis 1, Nager Type |
|
Posteriorly rotated ears, Prominent nasal bridge, Aganglionic megacolon, Micrognathia, Trismus, T... |
OMIM:154400 |
Robinow Syndrome |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Bro... |
ORPHA:97360 |
Bruck Syndrome 2 |
|
Wormian bones, Pterygium, Elbow flexion contracture, Knee flexion contracture |
OMIM:609220 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Large fontanelles, Lambdoidal craniosynostosis, Malar flattening, Coro... |
OMIM:603116 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Thickened hel... |
OMIM:609942 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Posteriorly rotated ears, Large for gestational age, Micrognathia, H... |
OMIM:213980 |
Osteogenesis Imperfecta, Type I |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta |
OMIM:166200 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Choanal atresia, Broad nasal tip, Hypoplasia of the maxilla, Car... |
OMIM:129900 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Delayed cranial suture closure |
ORPHA:95717 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, EEG abnormality, Shor... |
ORPHA:2719 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Long nose, Carious teeth, Short nose, Failure to thrive, Narrow nose, Narrow maxilla |
OMIM:617602 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Posteriorly rotated ears, Small for gestational age, Broad nasal tip, Mic... |
OMIM:309590 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Ablepharon-Macrostomia Syndrome |
|
Microtia, third degree, Abnormal nasal morphology, Hypoplasia of the zygomatic bone, Low-set ears... |
OMIM:200110 |
Bartsocas-Papas Syndrome |
|
Short nose, Micrognathia, Underdeveloped nasal alae |
ORPHA:1234 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Pe... |
OMIM:200990 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Short nose, Low-set ears |
ORPHA:457279 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:257850 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Low-s... |
ORPHA:8 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Wide anterior fontanel, Persistent open anterior fontanelle, Congenital hip dislocation, Delayed ... |
ORPHA:357058 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Failure to thrive in... |
ORPHA:1308 |
Lessel-Kreienkamp Syndrome |
|
Wide cranial sutures, Dental malocclusion |
OMIM:619149 |
Congenital Myopathy 22B, Severe Fetal |
|
Micrognathia, Wide nasal bridge, Low-set ears, Short nose, Retrognathia |
OMIM:620369 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Delayed cranial suture closure |
ORPHA:93324 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Depre... |
OMIM:604292 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Wide nose, Anteverted nares, Sensorineural hearing impairment, Dental malo... |
OMIM:303600 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose, Micrognathia |
OMIM:266810 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... |
OMIM:610828 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Microtia |
ORPHA:276280 |
Deeah Syndrome |
|
EEG abnormality, Low-set ears, Decreased body weight, Prominent nasal tip, Short nose, Retrognath... |
OMIM:619004 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia |
ORPHA:1393 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Choanal atresia, Cachexia, Pointed helix, S... |
ORPHA:3380 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short nose, Failure to thrive, Wide nasal bridge, Retrognathia |
OMIM:618005 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Low-set, posteriorly rotated ears, Hypoammonemia, Cryptorchidism, Protruding ear, D... |
ORPHA:534 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Abnormal dental enamel morphology, Hypoplasia of the maxilla... |
ORPHA:1798 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Wide nose, Sensorineural hearing impairment, Optic atrophy, ... |
ORPHA:79330 |
Wiedemann-Steiner Syndrome |
|
Short nose, Failure to thrive, Wide nasal bridge, Low-set ears |
ORPHA:319182 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Cleft ala nasi, Depressed nasal bridge, Underdeveloped nasal a... |
ORPHA:2052 |
Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Small for gestational age, Choanal atresia, Sensorineural he... |
OMIM:107480 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulbous nose, Flared nostril... |
OMIM:614756 |
Stuve-Wiedemann Syndrome 1 |
|
Anteverted nares, Micrognathia, Carious teeth, Abnormal autonomic nervous system physiology, Low-... |
OMIM:601559 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Short nose, Low hanging columella |
OMIM:615803 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Hypercholesterolemia, Male hypogonadism |
OMIM:619471 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Microtia |
ORPHA:158684 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Dysphagia, Impotence, Unconjugated hyperbilirubinemia, Increased blood urea... |
ORPHA:447 |
Peters-Plus Syndrome |
|
Rhizomelia, Posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Cryptorchidism,... |
OMIM:261540 |
Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Microretrognathia, Natal tooth, Anteverted nares, Choanal atre... |
ORPHA:672 |
Ruvalcaba Syndrome |
|
Short nose, Convex nasal ridge |
ORPHA:3121 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Failure to thrive, Anteverted nares, Posteriorly rotated ears, Bulbous nose,... |
OMIM:601358 |
Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Mic... |
ORPHA:536467 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,... |
ORPHA:881 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Large fontanelles, Hip dislocation, Wormian bones |
OMIM:219150 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Hip contracture, Wide cranial sutures, Interphalangeal joint contractu... |
OMIM:259600 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Erectile dysfunction, EEG abnormality |
ORPHA:206448 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Micrognathia, Prominent nose, Cryptorchidism, Disproportionate short stature, S... |
OMIM:210710 |
Geleophysic Dysplasia 1 |
|
Thickened helices, Short nose, Anteverted nares |
OMIM:231050 |
Steinert Myotonic Dystrophy |
|
Hypergonadotropic hypogonadism, Oral-pharyngeal dysphagia, Aggressive behavior, Fatigable weaknes... |
ORPHA:273 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Irregular menstruation, Xanthelasma, Menorrhagia, Hyperuric... |
ORPHA:79259 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Hypsarrhythmia, Choana... |
OMIM:269150 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, Large fontanelles, Facial hyperostosis, Retrognathia, De... |
ORPHA:2780 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Abnormality of the ear, Increased size of nasopharyngeal adenoids, Low-se... |
ORPHA:457395 |
Silver-Russell Syndrome 1 |
|
Delayed cranial suture closure, Micrognathia |
OMIM:180860 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal helix morphology, Low-set ears, Advanced erup... |
ORPHA:1519 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose |
ORPHA:280200 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Wormian bones, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Microretrognathia, Depressed nasal bridge, Underdeveloped nasa... |
ORPHA:79328 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Spondylocarpotarsal Synostosis Syndrome |
|
Mixed hearing impairment, Anteverted nares, Broad nasal tip, Sensorineural hearing impairment, Fa... |
OMIM:272460 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... |
OMIM:309000 |
Atelosteogenesis, Type I |
|
Short nose, Depressed nasal bridge, Low-set ears, Micrognathia |
OMIM:108720 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Narrow nose, Posteriorly rotated ears, Hypsarrhythmia, EEG abn... |
OMIM:301044 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Recurrent u... |
ORPHA:1465 |
Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Failure to thrive, Depressed nasal ... |
ORPHA:199 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Anteverted nares, Micrognathia, Sens... |
ORPHA:444077 |
Witteveen-Kolk Syndrome |
|
Glue ear, Uplifted earlobe, Protruding ear, Thickened helices, Hyperplasia of the maxilla, Micror... |
OMIM:613406 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Helsmoortel-Van Der Aa Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Facial palsy, Broad nasal tip, Carious teeth, Cupped ... |
OMIM:615873 |
Bruck Syndrome |
|
Wormian bones, Pterygium |
ORPHA:2771 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Autosomal Dominant Robinow Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Supe... |
ORPHA:3107 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos... |
OMIM:101200 |
Phocomelia, Schinzel Type |
|
Short nose, Micrognathia, Protruding ear |
ORPHA:2879 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Carey-Fineman-Ziter Syndrome |
|
Short nose, Anteverted nares, Facial palsy, Micrognathia |
ORPHA:1358 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Supern... |
ORPHA:1507 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Rhizomelia, Short stature, Anteverted nares, Micrognathia, Pos... |
ORPHA:709 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Eruption failure, Short nose, Failure to thrive, Micrognathia |
ORPHA:476126 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Hypoplasia of teeth, Narrow nasal ridge, Micrognathia |
OMIM:608612 |
Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cachexia, Micrognathia, Hypoplasia of the maxilla, Abno... |
ORPHA:828 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Hip dislocation, Delayed cran... |
ORPHA:2484 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Sensorineural hearing impairment, Decreased circulating copper concentration |
OMIM:300972 |
Down Syndrome |
|
Conductive hearing impairment, Microtia, Aganglionic megacolon |
OMIM:190685 |
Osteoporosis-Pseudoglioma Syndrome |
|
Wormian bones |
ORPHA:2788 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal brid... |
OMIM:268310 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Wormian bones, Dentinogenesis imperfecta |
OMIM:610968 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of... |
ORPHA:1449 |
Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones |
OMIM:619638 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Khan-Khan-Katsanis Syndrome |
|
Short nose, Failure to thrive, Micrognathia, Sensorineural hearing impairment |
OMIM:618460 |
Charge Syndrome |
|
Mixed hearing impairment, Hypogonadotropic hypogonadism, Choanal atresia, Micrognathia, Postnatal... |
OMIM:214800 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Wormian bones, Malar flattening, Congenital hip dislocation, Large fontanelles |
OMIM:612940 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Broad nasal tip, Prominent nose, Micrognathia, Carious tee... |
ORPHA:177907 |
Immunodeficiency 49 |
|
Wormian bones, Natal tooth, Micrognathia |
OMIM:617237 |
Lathosterolosis |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Conductive hearing impairment, Short nose |
OMIM:607330 |
Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Anteverted nares, Small for gestational age, Broad nasal tip, ... |
ORPHA:363611 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Failure to ... |
ORPHA:51608 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Micrognathia, Protruding ear, Low-set ears, Short nose, Abnormality of... |
OMIM:618820 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Bulbous nose, Abnormal earlob... |
ORPHA:95699 |
Doors Syndrome |
|
Anteverted nares, Broad nasal tip, Bulbous nose, Optic atrophy, Wide nasal bridge, EEG abnormalit... |
ORPHA:79500 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Zttk Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Optic atrophy, Wide nasal bridge, Protruding e... |
OMIM:617140 |
Craniofacial Microsomia 1 |
|
Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Anotia, Microtia, Atre... |
OMIM:164210 |
Osteogenesis Imperfecta, Type Xviii |
|
Wormian bones, Micrognathia |
OMIM:617952 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Wormian bones, Delayed eruption of primary teeth, Micrognathia |
OMIM:619322 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the temporomandibular joint, Depressed nasal br... |
ORPHA:536471 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Small for gestational age, Prominent nasal bridge, Failure to thrive in infancy, Broad nasal tip,... |
ORPHA:268261 |
Osteogenesis Imperfecta, Type Xiii |
|
Wormian bones, Limitation of knee mobility, Dentinogenesis imperfecta, Dislocated radial head |
OMIM:614856 |
Familial Thyroid Dyshormonogenesis |
|
Large posterior fontanelle, Delayed cranial suture closure |
ORPHA:95716 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Overweight, Bulbous nose, Cupped ear, Wide nasal bridge, Obesity, Depressed nas... |
OMIM:619475 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
EEG with focal sharp waves, EEG abnormality, EEG with series of focal spikes, Prominent nasal tip... |
ORPHA:522077 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Decreased circulating cortisol level, Increased circulating corticosterone leve... |
ORPHA:90793 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Rhizomelia, Short stature, Microtia, Hearing impairment |
OMIM:143095 |
Yunis-Varon Syndrome |
|
Anteverted nares, Small for gestational age, Failure to thrive in infancy, Micrognathia, Cryptorc... |
OMIM:216340 |
Ogden Syndrome |
|
Microretrognathia, Depressed nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Micrognath... |
OMIM:300855 |
Arterial Tortuosity Syndrome |
|
Short nose, Macrotia |
ORPHA:3342 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Delayed eruption of primary teeth, Micrognathia, Absent fron... |
OMIM:119600 |
Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Aplasia/Hypoplasia of the earlobes, Wide nas... |
ORPHA:2308 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Osteogenesis Imperfecta, Type Vii |
|
Wide cranial sutures, Protrusio acetabuli, Wide anterior fontanel, Wormian bones, Dentinogenesis ... |
OMIM:610682 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Mi... |
OMIM:180700 |
Osteogenesis Imperfecta, Type Viii |
|
Wormian bones, Wide anterior fontanel, Dentinogenesis imperfecta |
OMIM:610915 |
Schneckenbecken Dysplasia |
|
Short nose |
OMIM:269250 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Okamoto Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Low-set e... |
ORPHA:2729 |
Degcags Syndrome |
|
Failure to thrive, Anteverted nares, Prominent nasal bridge, Hearing impairment, Prominent nose, ... |
OMIM:619488 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Wormian bones, Malar flattening |
OMIM:231070 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Posteriorly rotated ears, Small for gestational ag... |
OMIM:612289 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Wide nose, Papilledema, Decreased nerve conduction velocity, Sensorineural hearing ... |
ORPHA:580 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Small for gestational age, Narrow nasal ridge, Low-set ears, Short nose,... |
OMIM:606721 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Wormian bones, Retrognathia |
OMIM:618644 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Enlargement of the wr... |
ORPHA:289157 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Micrognathia, Cupped ear, Wide nasal bridge, Overfolded helix, Short nose, Hearing impairment |
OMIM:609945 |
Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Large fontanelles |
OMIM:166210 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Convex nasal ridge, Micrognathia |
ORPHA:90154 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Mixed hearing impairment, Delayed eruption of primary teeth, Carious teeth, Cupped ear, Conical i... |
OMIM:149730 |
Ogden Syndrome |
|
Microretrognathia, Delayed cranial suture closure |
ORPHA:276432 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Posteriorly rotated ears, Protruding ear, Short columella, Low-set ears, Short... |
OMIM:601776 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Optic disc coloboma, Wide nasal bridge... |
OMIM:617157 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Agenesis of central incisor, Wormian bones, Malar flatte... |
OMIM:252100 |
Cutis Laxa, Autosomal Dominant 3 |
|
Wormian bones, Hip dislocation, Delayed cranial suture closure |
OMIM:616603 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose, Bulbous nose, Short nose |
ORPHA:508533 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Papilledema, Sensorineural hearing impairment, Recurrent upper respirato... |
ORPHA:217085 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Townes-Brocks Syndrome |
|
External ear malformation, Abnormal tragus morphology, Microtia, Overfolded helix, Failure to thr... |
ORPHA:857 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Micrognathia, Large fontanelles, Osteochondrosis, Retrognathia, Delayed ... |
ORPHA:2995 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Papilledema, Sensorineural hearing impairment, Recurrent upper respirato... |
ORPHA:217093 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Limited elbow movement, Micrognathia, Delayed closure of... |
OMIM:614008 |
Femoral-Facial Syndrome |
|
Abnormal pinna morphology, Micrognathia, Underdeveloped nasal alae, Low-set ears, Short nose |
OMIM:134780 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Macrotia, Hypertriglyceridemia, Low-set ears |
OMIM:118450 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Cholesteatoma |
OMIM:610978 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Wormian bones |
OMIM:616229 |
Menkes Disease |
|
Wormian bones |
OMIM:309400 |
Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Anteverted nares, Wide nasal bridge, Ab... |
ORPHA:373 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Arthritis, Wormian bones, Large fontanelles |
OMIM:259100 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Bulbous nose, Short nose |
OMIM:271510 |
Tenorio Syndrome |
|
Mandibular prognathia, Delayed cranial suture closure |
OMIM:616260 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Sclerotic cranial sutures, Arthritis, Carpal osteolysis, Pterygium |
ORPHA:371428 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Posteriorly rotated ears, Optic nerve hypoplasia, Broad nasal tip, Wide na... |
OMIM:620330 |
White-Sutton Syndrome |
|
Mandibular prognathia, Malar flattening, Wormian bones, Micrognathia |
OMIM:616364 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Wormian bones, Joint subluxation, Hip dislocation |
OMIM:617821 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont... |
OMIM:305100 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Short nose, Hypoplasia of the ... |
OMIM:229400 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Malar flattening |
OMIM:300232 |
Frank-Ter Haar Syndrome |
|
Micrognathia, Wide anterior fontanel, Dental malocclusion, Wormian bones, Delayed cranial suture ... |
OMIM:249420 |
Penile Agenesis |
|
Posteriorly rotated ears, Short nose, Depressed nasal bridge |
ORPHA:49 |
Osteogenesis Imperfecta, Type Xxi |
|
Wormian bones |
OMIM:619131 |
Silver-Russell Syndrome |
|
Delayed cranial suture closure, Micrognathia |
ORPHA:813 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Micrognathia, Wide anterior fontanel, Delayed crania... |
ORPHA:235 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Mandibular prognathia, Failure to thrive, Delayed eruption of teeth, ... |
OMIM:619503 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Failure to thrive in infancy, Optic nerve hypoplasia, Hypoplasia of the m... |
ORPHA:500150 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Micrognathia, Humeroradial synostosis, Large fontanelles, Elbow flexion co... |
OMIM:151050 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Flat acetabular roof |
OMIM:617159 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Supernumerary tooth, Dental malocclusion, Wormian bones, Malar flattening |
OMIM:234100 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Optic atrophy, Abdominal obesity, Short nose, Convex nasal ridge |
OMIM:619321 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Short nose |
OMIM:252160 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the ... |
OMIM:278250 |
D-Bifunctional Protein Deficiency |
|
Retrognathia, Large fontanelles, Delayed cranial suture closure, Micrognathia |
OMIM:261515 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose |
OMIM:252150 |
Acromesomelic Dysplasia 1 |
|
Short nose |
OMIM:602875 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Wormian bones, Congenital hip dislocation, Delayed closure of the ante... |
ORPHA:2962 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short nose, Optic atrophy |
ORPHA:505248 |
Curry-Jones Syndrome |
|
Wormian bones, Bicoronal synostosis, Unicoronal synostosis |
OMIM:601707 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Dental malocclusion, Genu valgum, Crowded carpal bones, Wor... |
OMIM:102500 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Protrusio acetabuli, Micrognathia, Elbow dislocation, Trismus, Supernumerary too... |
ORPHA:800 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Genu valgum, ... |
OMIM:309350 |
Hunter-Macdonald Syndrome |
|
Premature osteoarthritis, Large fontanelles, Cubitus valgus, Joint contracture of the hand, Malar... |
OMIM:611962 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Large for gestational age, Abnormal earlobe morphology, Obes... |
ORPHA:116 |
Williams-Beuren Syndrome |
|
Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Broad nasal tip, Sensorin... |
OMIM:194050 |
Geleophysic Dysplasia 2 |
|
Short nose |
OMIM:614185 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Williams Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Abnormal dental enamel morpholog... |
ORPHA:904 |
Cystinosis, Nephropathic |
|
Hyponatremia, Male infertility, Oral-pharyngeal dysphagia, Reduced blood urea nitrogen, Hypophosp... |
OMIM:219800 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Delayed cranial suture closure, Persistence of primary t... |
ORPHA:93325 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Micrognathia, Knee flexion contracture, Dislocation of the femoral head, Delayed... |
OMIM:210730 |
Omodysplasia 1 |
|
Short nose, Depressed nasal bridge, Wide nasal bridge, Micrognathia |
OMIM:258315 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Dental malocclusion, Wide nasal ... |
OMIM:312870 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Wormian bones, Large fontanelles |
ORPHA:90153 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Wide anterior fontanel, Joint subluxation, Delayed cranial suture closure, Hip dislocation |
ORPHA:90349 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal dental enamel morphology, Large fontanelles, Facial hyperostosis,... |
ORPHA:2658 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Conductive hearing impairment |
OMIM:244400 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Abnormal mandible morphology, Hypoplasia of the zygomatic b... |
ORPHA:955 |
Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Wide anterior fontanel, Talon cusp, Dental malocclusion,... |
OMIM:180849 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Protru... |
ORPHA:666 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Concave nasal ridge, Short nose, Enl... |
OMIM:271665 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Sensorineural hearing impairment... |
ORPHA:353281 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Large fontanelles, Delayed cranial suture closure |
ORPHA:2211 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Menkes Disease |
|
Wormian bones, Tarsal synostosis, Chondrocalcinosis, Micrognathia |
ORPHA:565 |
Hyperparathyroidism, Transient Neonatal |
|
Wide cranial sutures |
OMIM:618188 |
Medulloblastoma |
|
Delayed cranial suture closure |
ORPHA:616 |
Pallister-Killian Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Mi... |
OMIM:601803 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Occipital Horn Syndrome |
|
Large fontanelles, Hip dislocation, Genu valgum, Abnormality of the wrist, Synostosis of joints, ... |
ORPHA:198 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Sensorineural hearing impairment... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Sensorineural hearing impairment... |
ORPHA:353277 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Delayed closure of the anterior fontanelle, Micrognathia, Wide anteri... |
OMIM:304120 |
Liver Disease, Severe Congenital |
|
Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Recurrent otitis media, Failure to thri... |
OMIM:619991 |
Diamond-Blackfan Anemia 1 |
|
Retrognathia, Delayed cranial suture closure, Micrognathia |
OMIM:105650 |
Immunodeficiency 82 With Systemic Inflammation |
|
Recurrent otitis media, Cholesteatoma, Weight loss |
OMIM:619381 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Genu valgum, Delayed cranial suture closure, Micrognathia |
OMIM:619127 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Delayed cranial suture closure |
OMIM:618653 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Ridged cranial sutures, Radioulnar synostosis, Hip subluxation, Delayed cranial sut... |
OMIM:619325 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... |
ORPHA:2834 |
Autosomal Dominant Cutis Laxa |
|
Wormian bones, Genu recurvatum, Delayed cranial suture closure, Hip dislocation |
ORPHA:90348 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Delayed cranial suture closure |
ORPHA:226307 |
Yunis-Varon Syndrome |
|
Abnormality of dental structure, Wide cranial sutures, Hip dislocation, Micrognathia |
ORPHA:3472 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Hip dislocation, Wormian bones, Abnormality... |
ORPHA:285 |
Sotos Syndrome |
|
Aganglionic megacolon, No permanent dentition, Delayed eruption of permanent teeth, Conductive he... |
ORPHA:821 |
Dystonia 16 |
|
Dysphagia |
ORPHA:210571 |
Dystonia 16 |
|
Dysphagia |
OMIM:612067 |