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Gene: Prkra MGI:1344375

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Gene Summary

Name:
protein kinase, interferon inducible double stranded RNA dependent activator
Synonyms:
PRK,  RAX,  lear,  Pact

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal ear morphology Prkraem1(IMPC)H HOM Early adult 4.86×10-22
increased circulating cholesterol level Prkraem1(IMPC)H HOM Early adult 3.41×10-05
increased freezing behavior Prkraem1(IMPC)H HOM   Early adult 1.83×10-06
decreased circulating alkaline phosphatase level Prkraem1(IMPC)H HOM Early adult 1.73×10-05
male infertility Prkraem1(IMPC)H HOM Early adult 0.00
increased grip strength Prkraem1(IMPC)H HOM Early adult 6.11×10-14
increased blood urea nitrogen level Prkraem1(IMPC)H HOM   Early adult 6.78×10-06
decreased prepulse inhibition Prkraem1(IMPC)H HOM   Early adult 2.63×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Prkra mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Prkra by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dystonia 16
Dysphagia ORPHA:210571
Dystonia 16
Dysphagia OMIM:612067

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
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, Rodríguez 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
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Anteverted nares, Abnormal pinna morphology, Anteverted ears, Wide nasal bridge, Microtia, Low-se... OMIM:617641
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel OMIM:601356
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Micrognathia,... OMIM:300749
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Atresia of the external auditory canal, Low-set ears, Sh... ORPHA:93259
Ayme-Gripp Syndrome
Mandibular prognathia, Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing im... OMIM:601088
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Optic atrophy, Retrognathia, Hypoplasia of teeth, Short nose, Macrotia OMIM:234050
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Micrognathia, EEG abnormality, Low-set ears, Short nose ORPHA:314655
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
21Q22.11Q22.12 Microdeletion Syndrome
Anteverted nares, Failure to thrive in infancy, Bulbous nose, Microtia, Low-set ears, Recurrent o... ORPHA:261323
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Micrognathia, Wide nasal bridge, Low... OMIM:618529
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Abnormality of the stapes, Failure to thrive in infancy, Aganglionic m... ORPHA:798
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Gomez-Lopez-Hernandez Syndrome
Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears OMIM:601853
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose, Protruding ear OMIM:615539
Treacher-Collins Syndrome
Failure to thrive, Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia o... ORPHA:861
Microphthalmia With Limb Anomalies
Posteriorly rotated ears, Depressed nasal bridge, Flared nostrils, Retrognathia, Low-set ears, Sh... OMIM:206920
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Female infertility, Hearing impairment OMIM:617577
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Extra concha fold,... OMIM:209885
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Small for gestational age, Sensorineural hearing impairment, Microtia, Hy... OMIM:618500
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Hypsarrhythmia, Short nose OMIM:618437
Jaberi-Elahi Syndrome
Depressed nasal bridge, Optic atrophy, Protruding ear, Low-set ears, Short nose, Failure to thrive OMIM:617988
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulb... OMIM:613458
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Optic atrophy, Short nose, Failur... OMIM:619833
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Small for gestational age, Abnormal auditory evoked potentials, Underdevel... OMIM:193700
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... ORPHA:950
Peho Syndrome
Anteverted nares, External ear malformation, Optic atrophy, Hypsarrhythmia, EEG abnormality, Shor... ORPHA:2836
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Lowry-Maclean Syndrome
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talo... ORPHA:2409
Craniosynostosis 2
Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostosis, Wormian bones, ... OMIM:604757
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Obesity OMIM:619854
Bosma Arhinia Microphthalmia Syndrome
Abnormal pinna morphology, Choanal atresia, Absent tragus, Anosmia, Dental malocclusion, Hypoplas... OMIM:603457
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Micrognathia, Low-... ORPHA:363528
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Craniodigital-Intellectual Disability Syndrome
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
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... ORPHA:3077
Faundes-Banka Syndrome
Micrognathia, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Cupped ear, Microtia, Long... OMIM:619376
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Underdeveloped antitragus, Poste... OMIM:181270
Fanconi Anemia, Complementation Group L
Micrognathia, Wide nasal bridge, Depressed nasal tip, Microtia, Anotia, Low-set ears OMIM:614083
Craniosynostosis 4
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Malar ... OMIM:600775
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Bulbous nose, Wide nasal bridge, Protruding ear, Low-set ears, Short nose OMIM:618571
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Anteverted nares, Wide nasal bridge, Micrognathia OMIM:618577
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Short stature, Mesomelic/rhizomelic limb shortening, Micrognathia, Neo... ORPHA:2839
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Cupped ear, L... OMIM:602398
Ring Chromosome 12 Syndrome
Microtia, Small for gestational age, Low-set ears ORPHA:1439
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
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
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Cleft mandible, S... ORPHA:364577
Tetrasomy 5P
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
Prominent nasal bridge, Micrognathia, Carious teeth, Low-set ears, Short nose, Macrotia ORPHA:96097
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Cupped ear, Irregula... OMIM:110100
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Micrognathia, Atresia of the external auditory canal, Simple ear OMIM:602471
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Osteopathia Striata With Cranial Sclerosis
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
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
Hypoplasia of the nasal bone, Moderate postnatal growth retardation OMIM:118650
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Micrognathia ORPHA:1915
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Cutis Laxa, Autosomal Recessive, Type Iia
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
Failure to thrive, Microtia, Small for gestational age, Low-set ears OMIM:277380
Congenital Analbuminemia
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
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Optic disc coloboma, Choanal stenosis, Low-set ears, Short nose, Maxillozygomat... ORPHA:1790
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia OMIM:171480
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Optic atrophy, Micrognathia OMIM:615042
Townes-Brocks Syndrome 2
Overfolded helix, Cupped ear, Microtia OMIM:617466
Pallister-Hall Syndrome
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
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

Histopathology

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

There is no histopathology data for Prkra

IMPC related publications

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

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

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MGI Allele Allele Type Produced
Prkraem1(IMPC)H Exon Deletion Mice
Prkratm372742(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prkraem2(IMPC)H Exon Deletion Mice

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