Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Prkraem1(IMPC)H HOM Early adult 7.66×10-14
decreased circulating alkaline phosphatase level Prkraem1(IMPC)H HOM Early adult 8.65×10-06
decreased prepulse inhibition Prkraem1(IMPC)H HOM   Early adult 4.26×10-05
abnormal ear morphology Prkraem1(IMPC)H HOM Early adult 6.81×10-22
increased circulating cholesterol level Prkraem1(IMPC)H HOM Early adult 2.83×10-05
increased blood urea nitrogen level Prkraem1(IMPC)H HOM   Early adult 6.78×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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
OMIM:612067
Dystonia 16
ORPHA:210571

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
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
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 antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Microcephaly 6, Primary, Autosomal Recessive
Microtia, Bifid nasal tip OMIM:608393
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Short Stature-Obesity Syndrome
Narrow nose, Micrognathia, Prominent nasal bridge, Microtia, Obesity OMIM:269870
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Dental malocclusion, Large earlobe, Depressed nasal bridge OMIM:155050
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Increased in... OMIM:612290
Epidermolysis Bullosa Simplex With Pyloric Atresia
Underdeveloped nasal alae, Microtia OMIM:612138
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Anteverted nares, Short nose ORPHA:2015
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Treacher Collins Syndrome 2
Choanal stenosis, Conductive hearing impairment, Choanal atresia, Micrognathia, Microtia OMIM:613717
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Meier-Gorlin Syndrome 8
Decreased body weight, Low-set ears, Intrauterine growth retardation, Micrognathia, Microtia OMIM:617564
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Hearing impairment, Abnormal sperm morphology OMIM:608653
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Conductive hearing impairment, Wide nasal bridge, Micrognathia, Microtia OMIM:248910
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Microretrognathia, Aganglionic megacolon, Abnormality of the pinna, Wide nasal bridge... OMIM:613603
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:144300
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Hearing impairment OMIM:300719
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Mosaic Trisomy 14
Anteverted nares, Low-set, posteriorly rotated ears, Wide nasal bridge, Failure to thrive, Microg... ORPHA:1703
6Q16 Microdeletion Syndrome
Bulbous nose, Abnormal ear morphology, Low-set ears, Depressed nasal bridge, Retrognathia, Microg... ORPHA:171829
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Sensorineural hearing impa... OMIM:618500
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Ring Chromosome 8 Syndrome
Round ear, Short nose, Anteverted nares ORPHA:1450
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Acrocephalopolydactyly
Short nose, Microtia, Depressed nasal ridge ORPHA:221054
Treacher Collins Syndrome 3
Conductive hearing impairment, Micrognathia, Microtia, Abnormality of the outer ear OMIM:248390
Wilson-Turner Syndrome
Truncal obesity, Short stature, Hypogonadotropic hypogonadism, Malar prominence, Micrognathia, Mi... ORPHA:3459
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Bifid nasal tip, Bifid nos... ORPHA:2213
Pterygium Colli, Isolated
Protruding ear, Short nose OMIM:177990
Trigonocephaly 2
Trigonocephaly, Metopic synostosis OMIM:614485
Stapes Ankylosis With Broad Thumbs And Toes
Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impairment, Long nose, Low hangin... OMIM:184460
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Thick nasal alae, Decreased body weight, Low-set ears, Micrognathia, Microtia, Wide nose ORPHA:357175
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
17Q21.31 Microduplication Syndrome
Short nose, Abnormality of the outer ear, Failure to thrive, Micrognathia, Anteverted nares ORPHA:217340
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Micrognathia, Microtia, Hypogonadotropic hypogonadism ORPHA:939
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Craniosynostosis 1
Craniosynostosis, Oxycephaly, Dolichocephaly, Scaphocephaly, Turricephaly OMIM:123100
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Short nose, Posteriorly rotated ears, Low-set ears, Depressed nasal ridge, Re... ORPHA:1832
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Mental Retardation, Autosomal Recessive 35
Thick nasal alae, Decreased body weight, Low-set ears, Micrognathia, Microtia, Wide nose OMIM:615162
Gms Syndrome
Low-set ears, Short nose, Microtia, Depressed nasal bridge OMIM:138770
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Ravine Syndrome
Abnormality of the larynx, Failure to thrive, Abnormal auditory evoked potentials, Decreased body... ORPHA:99852
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Low-set ears, Retrognathia, Anteverted nares, Chronic bronchitis, Depresse... OMIM:614069
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
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Microtia OMIM:251800
Microtia
Anotia, Hypoplastic helices, Atresia of the external auditory canal, Abnormality of the pinna, Mi... ORPHA:83463
20P12.3 Microdeletion Syndrome
Thickened helices, Wide nasal bridge, Depressed nasal bridge, Microtia, Hypoplasia of the maxilla ORPHA:261295
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Dental malocclusion, Microtia, Horner syndrome OMIM:141300
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Micrognathia, Microtia OMIM:300946
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Zechi-Ceide Syndrome
Conductive hearing impairment, Mandibular prognathia, Wide nasal bridge, Low-set ears, Stenosis o... ORPHA:217017
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Microtia, Short mandibular... OMIM:141400
Humeroradial Synostosis
Small earlobe, Microtia, Wide nasal bridge OMIM:236400
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Azotemia, Familial
Azotemia OMIM:109160
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal, Hyposmia OMIM:607842
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Conductive hearing impai... ORPHA:3236
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Hypergonadotropic hypogonadism, Failure to thrive, Short stature, Intrauterine... ORPHA:163976
Isotretinoin Syndrome
Abnormality of the outer ear, Micrognathia, Microtia, Depressed nasal bridge ORPHA:2305
Otofaciocervical Syndrome
Abnormality of the antihelix, Macrotia, Conductive hearing impairment, Atresia of the external au... ORPHA:2792
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Johnson Neuroectodermal Syndrome
Carious teeth, Bulbous nose, Conductive hearing impairment, Atresia of the external auditory cana... ORPHA:2316
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Brachycephaly, Micrognathia, Trigonocephaly, Prominent metopic ridge OMIM:275595
Facial Paresis, Hereditary Congenital, 3
Short nose, Posteriorly rotated ears, Low-set ears, Sensorineural hearing impairment, Facial pals... OMIM:614744
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Short nose, Microtia ORPHA:2547
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the antihelix, Short nose, Aplasia/Hypoplasia of the lungs, Mi... ORPHA:2145
Oculoauriculofrontonasal Syndrome
Underdeveloped nasal alae, Conductive hearing impairment, Bifid nasal tip, Micrognathia, Microtia... ORPHA:398156
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose, Macrotia ORPHA:438178
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the larynx, Mandibular prognathia, Ab... OMIM:182290
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Broad nasal tip, Bifid nos... OMIM:239800
Coxoauricular Syndrome
Hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:1508
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Wide nasal bridge, Low-set ears, Sensorineural hearing impairment, Failure to thriv... OMIM:301022
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Low-set, posteriorly rotated ears, Micrognathia, Depressed nasal ... ORPHA:1695
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Short columella, Laryngomalacia, Obesity, Low-set ears, Micrognathia, Anteverted nare... ORPHA:171839
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media OMIM:221320
Catifa Syndrome
Delayed eruption of teeth, Anteverted nares, Microtia OMIM:618761
Ohdo Syndrome
Short nose, Hypoplasia of teeth, Wide nasal bridge, Hearing impairment, Stenosis of the external ... OMIM:249620
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Short nose, Hypoplasia of the maxilla OMIM:122880
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Short nose, Failure to thrive, Narrow nasal bridge OMIM:618379
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Macrotia OMIM:300558
Vitamin K Antagonist Embryofetopathy
Short nose, Choanal atresia, Hearing impairment, Optic atrophy, Anteverted nares, Microtia, Depre... ORPHA:1914
Acrofacial Dysostosis, Cincinnati Type
Anotia, Macrotia, Choanal atresia, Decreased body weight, Retrognathia, Micrognathia, Microtia, H... OMIM:616462
Abcd Syndrome
Large for gestational age, Hearing impairment, Abnormal auditory evoked potentials, Aganglionic m... OMIM:600501
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Overfolded helix, Obesity, Low-set ears, Mixed hearing impairment, Anteverted nares, Microtia, De... OMIM:608624
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Atresia of the external auditory canal, Trismus, Sensorin... OMIM:609166
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Weiss-Kruszka Syndrome
Short nose, Overfolded helix, Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of he... OMIM:618619
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Adenylosuccinate Lyase Deficiency
Low-set ears, Anteverted nares, Short nose ORPHA:46
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Low-set ears, Wide nose, Small for gestational age, Anteverted nares, Microtia, Depre... OMIM:613320
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Dermotrichic Syndrome
Short nose, Macrotia, Aganglionic megacolon, EEG abnormality, Depressed nasal bridge ORPHA:99688
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Hearing impairment, Pulmonary lymphangiectasia, Microtia, Depressed nasal bridge OMIM:616006
Johnson Neuroectodermal Syndrome
Carious teeth, Choanal stenosis, Conductive hearing impairment, Atresia of the external auditory ... OMIM:147770
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Low-set, posteriorly rotated ears, Mandibular prognathia, Attached earlobe, Abnormali... ORPHA:1327
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Wide nasal bridge, Low-set ears, Anteverted nares, Depressed nasal bridge OMIM:616430
Microtia-Anotia
Anotia, Microtia OMIM:600674
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Micrognathia, Decreased body weight, Posteriorly rotated ears, Low-set ears, Long nose, Microtia,... OMIM:618336
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Short nose, Depressed nasal bridge ORPHA:261120
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Distal Monosomy 9P
Abnormality of the antihelix, Short nose, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia o... ORPHA:1642
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Short nose, Macrotia OMIM:617061
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Hearing impairment, Atresia of the external auditory canal ORPHA:3023
Rhiny
Anteverted nares, Short nose OMIM:180360
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Protruding ear, Optic atrophy, Recurrent pneumonia, Micrognathia ORPHA:1495
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Overfolded helix, Conductive hearing impairment, Atresia of the external auditory can... OMIM:610536
Pycnodysostosis
Wormian bones, Carious teeth, Delayed eruption of primary teeth, Absent frontal sinuses, Frontal ... OMIM:265800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Chromosome 6Q11-Q14 Deletion Syndrome
Low-set ears, Short nose, Abnormality of the pinna, Broad nasal tip OMIM:613544
Chromosome 16P13.3 Duplication Syndrome
Low-set ears, Short nose, Protruding ear, Bulbous nose OMIM:613458
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Wide nasal bridge, Posteriorly rotated ears, Micrognathia, Anteverted nar... OMIM:602562
Verloove Vanhorick-Brubakk Syndrome
Atresia of the external auditory canal, Low-set ears, Aplasia/Hypoplasia of the lungs, Micrognath... ORPHA:3429
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Chromosome 1Q41-Q42 Deletion Syndrome
Anteverted nares, Microtia, Depressed nasal bridge OMIM:612530
Mental Retardation, Autosomal Dominant 1
Bulbous nose, Short nose, Abnormality of the pinna, Abnormality of the outer ear, Low-set ears, C... OMIM:156200
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Nabais Sa-De Vries Syndrome, Type 2
Bulbous nose, Failure to thrive in infancy, Posteriorly rotated ears, Low-set ears, Protruding ea... OMIM:618829
Disorder Of Sex Development-Intellectual Disability Syndrome
Severe sensorineural hearing impairment, Low-set, posteriorly rotated ears, Short nose, Microtia ORPHA:2983
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Humeroradial Synostosis With Craniofacial Anomalies
Small earlobe, Microtia, Wide nasal bridge OMIM:236410
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Abnormality of the malleus, Con... ORPHA:949
Intellectual Developmental Disorder, X-Linked 98
Short nose, Anteverted nares, Underdeveloped nasal alae, Macrotia, Hypsarrhythmia, Failure to thr... OMIM:300912
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Short nose, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Po... OMIM:613870
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Schilbach-Rott Syndrome
Micrognathia, Posteriorly rotated ears, Long nose, Microtia, Prominent nose OMIM:164220
Congenital Disorder Of Glycosylation, Type Iig
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Wide nasal bridge, Hearing impai... OMIM:611209
Au-Kline Syndrome
Wide nasal ridge, Underdeveloped nasal alae, Microtia OMIM:616580
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Cupped ear, Microtia, Micrognat... ORPHA:246
Isotretinoin Embryopathy-Like Syndrome
Anotia, Micrognathia, Microtia OMIM:243440
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short nose ORPHA:2370
Mental Retardation, X-Linked 91
Short nose, Obesity OMIM:300577
Meier-Gorlin Syndrome 4
Low-set ears, Birth length less than 3rd percentile, Short stature, Failure to thrive, Intrauteri... OMIM:613804
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypoplasia of the nasal bo... ORPHA:1134
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Decreased motor nerve conduction velocity, Short nose, Macrotia, Low-set ears, Opti... OMIM:615419
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Chung-Jansen Syndrome
Short nose, Macrotia, Micrognathia, Anteverted nares, Obesity OMIM:617991
Meier-Gorlin Syndrome 6
Short nose, Underdeveloped nasal alae, Conductive hearing impairment, Microretrognathia, Emphysem... OMIM:616835
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Delayed puberty, Short stature, Microtia ORPHA:2994
Sweeney-Cox Syndrome
Underdeveloped nasal alae, Overfolded helix, Short columella, Choanal atresia, Wide nasal bridge,... OMIM:617746
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Nager Syndrome
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Hearing impairment, Hy... ORPHA:245
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes, Abnormality of the nares, Sten... ORPHA:2878
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Short nose, Low-set ears, Depressed nasal bridge OMIM:616910
Perlman Syndrome
Thickened helices, Short nose, Wide nasal bridge, Posteriorly rotated ears, Low-set ears, Retrogn... ORPHA:2849
Cebalid Syndrome
Short nose, Abnormality of the pinna, Posteriorly rotated ears, Low-set ears, Hearing impairment,... OMIM:618774
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Atresia of the external auditory canal, Choanal atresia, Posterior... OMIM:613309
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Sensorineural hearing impairment, Depressed nasal ridge, A... ORPHA:1529
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Anosmia, Hearing impairment, Short nasal septum, Depressed nasal bridge OMIM:302950
Tarp Syndrome
Prominent antihelix, Wide nasal bridge, Posteriorly rotated ears, Low-set ears, Failure to thrive... OMIM:311900
Lambotte Syndrome
Convex nasal ridge, Atresia of the external auditory canal, Retrognathia, Macrotia OMIM:245552
Cryptomicrotia-Brachydactyly Syndrome
Microtia, Chordee OMIM:123560
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Hypogonadism, Azoospermia, Primary amenorrhea OMIM:229070
Even-Plus Syndrome
Depressed nasal ridge, Short nose, Microtia, Bifid nasal tip OMIM:616854
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Low-set ears, Hearing impairment, Wide nose, Anteverted nares, Microtia, Obesity OMIM:619056
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Hypoplastic helices, Recurrent upper respiratory tract inf... ORPHA:391372
Short Stature And Facioauriculothoracic Malformations
Low-set ears, Cupped ear, Microtia, Overfolded helix OMIM:609654
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Bulbous nose, Posteriorly rotated ears, Low-set ears, Hearing impairment, Micrognathia OMIM:613604
Hao-Fountain Syndrome
Delayed cranial suture closure, Trigonocephaly, Large fontanelles OMIM:616863
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Posteriorly rotated ears, Sensorineural hearing impairment, Mixed hearing impairment, Short statu... OMIM:606164
Acrocraniofacial Dysostosis
Conductive hearing impairment, Natal tooth, Abnormality of the outer ear, Abnormal auditory evoke... OMIM:201050
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Posteriorly rotated ears, Lo... OMIM:300209
Meier-Gorlin Syndrome 5
Small earlobe, Low-set ears, Birth length less than 3rd percentile, Short stature, Failure to thr... OMIM:613805
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Conductive hearing impairment, Atresia of the external auditory canal, Stenosis of the ex... OMIM:608257
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Microtia, first degree, Profound sensorineural hearing impairment, Aplasia of th... OMIM:610706
Pierpont Syndrome
Short nose, Decreased body weight, Posteriorly rotated ears, Hearing impairment, Failure to thriv... OMIM:602342
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Mandibular prognathia, Short nose OMIM:300143
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Burn-Mckeown Syndrome
Bilateral choanal atresia, Prominent nasal bridge, Short nose, Wide nasal bridge ORPHA:1200
Parietal Foramina With Cleidocranial Dysplasia
Microtia OMIM:168550
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Underdeveloped nasal alae, Wide nasal bridge, Hearing impairme... ORPHA:90024
Mental Retardation, Autosomal Dominant 20
Low-set ears, Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Chondrodysplasia With Joint Dislocations, Gpapp Type
Hearing impairment, Micrognathia, Short nose, Wide nasal bridge OMIM:614078
Fetal Trimethadione Syndrome
Short nose, Overfolded helix, Low-set ears, Abnormality of the helix, Micrognathia, Depressed nas... ORPHA:1913
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones ORPHA:2773
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Cupped ear, Bilateral sensorineural hearing impairment, Micrognathia, A... ORPHA:40366
Hyperprolactinemia
Infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Seckel Syndrome 7
Microtia, Prominent nose OMIM:614851
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Failure to thrive in infancy, Broad nasal tip, Retrognathia, Obesity OMIM:613670
Osteogenesis Imperfecta, Type Xii
Wormian bones, Delayed eruption of teeth, Midface retrusion, Brachyturricephaly, Micrognathia, Ma... OMIM:613849
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Short nose, Macrotia, Low-set, posteriorly rotated ears, Hearing impairment, Antev... ORPHA:2701
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Decreased motor nerve conduction velocity, Decreased sensory nerve c... OMIM:218000
Jaberi-Elahi Syndrome
Short nose, Low-set ears, Protruding ear, Failure to thrive, Optic atrophy, Depressed nasal bridge OMIM:617988
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Wide nasal base, Delayed eruption of teeth, Atresia of the external auditory canal, Low-set ears,... OMIM:264475
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Cupped ear, Microtia, Micrognathia, Hearing abnormality ORPHA:1352
Linear Skin Defects With Multiple Congenital Anomalies 2
Posteriorly rotated ears, Short nose, Optic disc pallor OMIM:300887
Femoral-Facial Syndrome
Low-set ears, Micrognathia, Short nose, Microtia ORPHA:1988
Barber-Say Syndrome
Delayed eruption of teeth, Bulbous nose, Atresia of the external auditory canal, Abnormality of t... ORPHA:1231
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Overfolded helix, Crump... ORPHA:1458
Grant Syndrome
Wormian bones, Micrognathia OMIM:138930
Chromosome 14Q11-Q22 Deletion Syndrome
Short nose, Abnormality of the pinna, Low-set ears, Failure to thrive, Optic atrophy, Micrognathi... OMIM:613457
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Low-set ears, Short nose, Microtia, Depressed nasal bridge OMIM:616723
Acrootoocular Syndrome
Wide nasal base, Delayed eruption of teeth, Conductive hearing impairment, Atresia of the externa... ORPHA:2980
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short columella, Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Microtia ORPHA:1770
Paganini-Miozzo Syndrome
Low-set ears, Mandibular prognathia, Microtia OMIM:301025
Meier-Gorlin Syndrome 2
Underdeveloped nasal alae, Micrognathia, Abnormality of the pinna, Tracheomalacia, Failure to thr... OMIM:613800
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Micrognathia, Short nose, Depressed nasal bridge OMIM:617802
17P13.3 Microduplication Syndrome
Low-set ears, Short nose, Wide nose ORPHA:217385
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
Distal Monosomy 17Q
Low-set, posteriorly rotated ears, Optic atrophy, Microtia ORPHA:1597
Robinow Syndrome, Autosomal Recessive 2
Short nose, Wide nasal bridge, Posteriorly rotated ears, Low-set ears, Broad nasal tip, Micrognat... OMIM:618529
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Underdeveloped nasal alae, Macrotia, Overfolded helix, Posteriorly rotated ears, Micr... ORPHA:2083
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Platybasia, Wormian bones, Abnormal joint morphology OMIM:166230
Distal Trisomy 18Q
Carious teeth, Short nose, Anteverted nares, Low-set, posteriorly rotated ears, Choanal atresia, ... ORPHA:1716
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Hearing impairment ORPHA:181393
Peho-Like Syndrome
Retrognathia, Optic atrophy, Short nose, Hypsarrhythmia OMIM:617507
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae, Posteriorly rotated ears, Low-set ears, Retrognathia, Micrognathia ORPHA:163961
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
20Q11.2 Microduplication Syndrome
Short nose, Low-set, posteriorly rotated ears, Wide nasal bridge, Thickened ears, Retrognathia, A... ORPHA:363659
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Recurrent otitis media, Postnatal growth retardation, Abnormality of the out... ORPHA:2728
Osteomesopyknosis
Infertility OMIM:166450
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Ataxia With Vitamin 3 Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:277460
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Wide nasal bridge, Anteverted nares, Microtia, Depressed nasal bridge ORPHA:163654
Severe X-Linked Intellectual Disability, Gustavson Type
Profound hearing impairment, Short nose, Recurrent upper respiratory tract infections, Macrotia, ... ORPHA:3078
Hyperphosphatasia With Mental Retardation Syndrome 3
Hearing impairment, Short nose, Wide nasal bridge, Broad nasal tip OMIM:614207
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Failure to thrive, Microtia ORPHA:370079
Nabais Sa-De Vries Syndrome, Type 1
Thickened helices, Bulbous nose, Short nose, Hearing impairment, Optic nerve hypoplasia, Prominen... OMIM:618828
Cooper-Jabs Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Atresia of the external auditor... ORPHA:1488
Hennekam-Beemer Syndrome
Conductive hearing impairment, Micrognathia, Pneumonia, Wide nasal bridge, Hearing impairment, Fa... ORPHA:2135
Saethre-Chotzen Syndrome
Convex nasal ridge, Abnormality of the antihelix, Narrow internal auditory canal, Conductive hear... ORPHA:794
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Low-set ears, Microtia OMIM:618089
Temple Syndrome
Posteriorly rotated ears, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Robinow Syndrome, Autosomal Dominant 2
Short nose, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, ... OMIM:616331
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Cupped ear, Micrognathia, Microtia, first degree, Wide nasal bridge OMIM:600123
Fanconi Anemia, Complementation Group L
Wide nasal bridge, Tracheoesophageal fistula, Microtia, Depressed nasal bridge OMIM:614083
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Posteriorly rotated ears, Low-set ears, Micrognathia, Microtia, Depressed nasal br... OMIM:616734
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Wide nasal bridge, Obesity, Retrognathia, Triangular nasal tip, Anteverted nares, Microtia, Depre... OMIM:141750
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Isotretinoin-Like Syndrome
Anotia, Abnormality of the pulmonary veins, Thin anteverted nares, Aplasia/Hypoplasia of the inne... ORPHA:2306
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Frontal bossing ORPHA:2787
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Sensorineural hearing impai... OMIM:113650
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Microcephaly-Capillary Malformation Syndrome
Short nose, Low-set ears, Hearing impairment, Small for gestational age, Failure to thrive, Optic... OMIM:614261
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Autosomal Recessive Omodysplasia
Short nose, Posteriorly rotated ears, Low-set ears, Micrognathia, Anteverted nares, Depressed nas... ORPHA:93329
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short nose, Macrotia, Decreased body weight, Wide nasal bridge, Hearing impairment, Sensorineural... OMIM:300749
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... ORPHA:231111
Miller-Dieker Syndrome
Anteverted nares, Short nose, EEG abnormality ORPHA:531
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Baker-Gordon Syndrome
EEG abnormality, Short nose, Prominent nasal tip OMIM:618218
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, Postnatal growth retardation, Hearing impairment, Short stature, Retrognathia OMIM:612947
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormality of the antihelix, Short nose, Bulbous nose, Mandibular prognathia, Protruding ear, De... ORPHA:261144
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Low-set, posteriorly rotated ears, Postnatal growth retardation, Intrauterine growth retardation,... ORPHA:254525
Tetrasomy 18P
Low-set, posteriorly rotated ears, Short nose ORPHA:3307
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of the columella, Underdeveloped nasal alae, Overfolded helix, Abnormality of frontal... ORPHA:436003
19P13.3 Microduplication Syndrome
Underdeveloped nasal alae, Posteriorly rotated ears, Low-set ears, Micrognathia, Microtia, Promin... ORPHA:447980
Non-Distal Trisomy 13Q
Abnormality of the antihelix, Micrognathia, Aplasia/Hypoplasia of the earlobes, Short nose ORPHA:1702
Kapur-Toriello Syndrome
Bulbous nose, Atresia of the external auditory canal, Posteriorly rotated ears, Low-set ears, Fai... ORPHA:2328
Distal Xq28 Microduplication Syndrome
Absent antihelix, Recurrent upper respiratory tract infections, Epistaxis, Broad nasal tip, Micro... ORPHA:293939
Toluene Embryopathy
Short nose, Low-set ears, Protruding ear, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:1920
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Laryngomalacia, Pulmonary hypoplasia, Retrognathia, Micrognathia, Ante... OMIM:608149
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Low-set ears, Failure to thrive, Micrognathia, Anteverted nares ORPHA:1895
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Supernumerary maxillary incisor, Small for g... ORPHA:199302
Maxillonasal Dysplasia
Short nose, Hypoplasia of the maxilla, Short columella, Mandibular prognathia, Abnormality of the... ORPHA:1248
Mental Retardation, X-Linked, Syndromic 12
Mandibular prognathia, Postnatal growth retardation OMIM:309545
Coffin-Siris Syndrome 9
Abnormality of the columella, Short nose, Underdeveloped nasal alae, Abnormality of the nares, Po... OMIM:615866
Leukodystrophy, Hypomyelinating, 10
Short nose, Bulbous nose, Low-set ears, Hearing impairment, Failure to thrive, Anteverted nares OMIM:616420
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Hearing impairment, Abnormality of the pulmonary artery, Micro... ORPHA:1926
Acromicric Dysplasia
Short nose, Anteverted nares, Bulbous nose, Decreased nerve conduction velocity ORPHA:969
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Gaucher Disease, Perinatal Lethal
Short nose, Decreased body weight, Low-set ears, Retrognathia, Micrognathia, Anteverted nares, Mi... OMIM:608013
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the larynx, Aplasia/Hypoplasia of the lungs, Septo-optic dysplasia, Optic atrophy,... ORPHA:3301
Peroxisome Biogenesis Disorder 13A (Zellweger)
Delayed closure of the anterior fontanelle, Large fontanelles, Flat occiput, Dolichocephaly, Micr... OMIM:614887
Scalp-Ear-Nipple Syndrome
Small earlobe, Short columella, Mandibular prognathia, Low-set ears, Cupped ear, Protruding ear, ... OMIM:181270
Fraser Syndrome 1
Laryngeal atresia, Underdeveloped nasal alae, Choanal stenosis, Conductive hearing impairment, Cl... OMIM:219000
Chanarin-Dorfman Syndrome
Sensorineural hearing impairment, Microtia OMIM:275630
Van Maldergem Syndrome 2
Conductive hearing impairment, Atresia of the external auditory canal, Tracheomalacia, Wide nasal... OMIM:615546
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Al-Raqad Syndrome
Low-set ears, Short nose OMIM:616459
Bainbridge-Ropers Syndrome
Short nose, Anteverted nares, Failure to thrive, Broad nasal tip, Prominent nasal bridge OMIM:615485
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Mandibular prognathia, Short nose ORPHA:2429
Mycophenolate Mofetil Embryopathy
Anotia, Atresia of the external auditory canal, Tracheomalacia, Hearing impairment, Bifid nose, M... ORPHA:268249
Van Maldergem Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Tracheomalacia, Wide nasal... OMIM:601390
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Recurrent respiratory infections, Cachexia, Short nose ORPHA:1389
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Subglottic stenosis, Microtia, Prominent nose ORPHA:319675
Ciliary Dyskinesia, Primary, 41
Infertility, Recurrent otitis media, Immotile sperm OMIM:618449
Baraitser-Winter Syndrome 1
Short nose, Overfolded helix, Wide nasal bridge, Low-set ears, Sensorineural hearing impairment, ... OMIM:243310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Bronchiectasis, Pneumonia, Low-set ears, Failure to thrive, Sinusitis, Micrognathia, ... OMIM:242860
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
16P11.2P12.2 Microdeletion Syndrome
Absent nasal bridge, Bulbous nose, Short nose, Microretrognathia, Chronic otitis media, Abnormali... ORPHA:261211
Fetal Hydantoin Syndrome
Short nose, Low-set, posteriorly rotated ears, Abnormality of the pinna, Depressed nasal ridge, H... ORPHA:1912
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2789
Stickler Syndrome Type 1
Sensorineural hearing impairment, Short nose, Hypoplasia of the maxilla ORPHA:90653
Buratti-Harel Syndrome
Laryngomalacia, Posteriorly rotated ears, Low-set ears, Recurrent pneumonia, Microtia OMIM:619314
Donnai-Barrow Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Short nose, Depressed nasal bridge ORPHA:2143
Meier-Gorlin Syndrome 3
Micrognathia, Microretrognathia, Tracheomalacia, Laryngomalacia, Posteriorly rotated ears, Low-se... OMIM:613803
Clark-Baraitser Syndrome
Obesity, Short nose, Depressed nasal bridge OMIM:617752
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Prominent nasal bridge, Microtia ORPHA:1788
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Protruding ear, Antever... ORPHA:2031
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Bilateral sensorineural hearing impairment, Postnatal growth retardati... ORPHA:73272
Distal Tetrasomy 15Q
Micrognathia, Low-set ears, Cupped ear, Pulmonary hypoplasia, Sensorineural hearing impairment, A... ORPHA:314588
Trisomy 12P
Abnormality of the antihelix, Short nose, Wide nasal bridge, Low-set ears, Micrognathia ORPHA:1699
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Short nose, Wide nasal bridge, Hearing impairment, Micrognathia, Anteverted nares, Recurrent resp... ORPHA:2282
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Multiple Synostoses Syndrome 1
Stapes ankylosis, Progressive conductive hearing impairment, Hypoplastic nasal septum, Underdevel... OMIM:186500
Chromosome 3Q29 Duplication Syndrome
Obesity, Short nose, Bulbous nose, Wide nasal bridge OMIM:611936
Meckel Syndrome, Type 8
Low-set ears, Short nose, Depressed nasal ridge OMIM:613885
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Bilateral choanal atresia/stenosis, Tracheomalacia, Wide nasal bri... ORPHA:314679
Trisomy 8P
Abnormal lung lobation, Short nose, Recurrent upper respiratory tract infections, Conductive hear... ORPHA:264450
17Q24.2 Microdeletion Syndrome
Otosclerosis, Recurrent otitis media, Failure to thrive in infancy, Wide nasal bridge, Truncal ob... ORPHA:529962
Chromosome 19Q13.11 Deletion Syndrome, Distal
Carious teeth, Short nose, Underdeveloped nasal alae, Macrotia, Wide nasal bridge, Low-set ears, ... OMIM:613026
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Marshall-Smith Syndrome
Short nose, Conductive hearing impairment, Choanal atresia, Failure to thrive, Retrognathia, Opti... ORPHA:561
Pontocerebellar Hypoplasia, Type 2E
Short nose, Failure to thrive, Optic atrophy, Micrognathia, Large earlobe, Wide nose OMIM:615851
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Conductive hearing impairment, Short nasal bridge, Poster... OMIM:130720
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Short nose, Posteriorly rotated ears, Low-set ears, Sensorineural hearing impairment, Absent fron... OMIM:301040
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Carious teeth... OMIM:604922
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Conductive hearing impairment, Posteriorly rotated ears, Low-set ears, Anterior open-... OMIM:617877
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Chromosome 16Q22 Deletion Syndrome
Wide anterior fontanel, Growth delay, Postnatal growth retardation, Low-set ears, Posteriorly rot... OMIM:614541
Helsmoortel-Van Der Aa Syndrome
Short nose, Low-set, posteriorly rotated ears, Wide nasal bridge, Broad nasal tip, Anteverted nar... OMIM:615873
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Short nose, Hypoplasia of teeth, Macrotia, Decreased body weight, Sensorineural hearing impairmen... ORPHA:391408
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Short nose, Posteriorly rotated ears, Low-set ears, Hearing impairment, Microtia, Depressed nasal... OMIM:601353
Dend Syndrome
Anteverted nares, Short nose, Hypsarrhythmia, Thickened ears ORPHA:79134
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Wide nasal bridge OMIM:601224
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Optic atrophy, Anteverted nares, Short nose ORPHA:1185
Osteogenesis Imperfecta, Type Iii
Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Platybasia, Decrease... OMIM:259420
Trisomy 10P
Low voltage EEG, Short nose, Macrotia, Abnormality of the nose, EEG with focal spikes, EEG with b... ORPHA:171929
Crouzon Syndrome
Abnormal nasopharynx morphology, Conductive hearing impairment, Atresia of the external auditory ... OMIM:123500
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Short nose, Macrotia, Retrognathia, Optic atrophy, Anteverted nares OMIM:234050
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Short nose, Depressed nasal bridge OMIM:614732
16P13.11 Microdeletion Syndrome
Short nose, Atresia of the external auditory canal, Low-set ears, Sensorineural hearing impairmen... ORPHA:261236
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Anteverted nares, Trismus, Posteriorly rotated ears, Hearing impairment, Dental maloc... OMIM:227330
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
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, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Short nose, Choanal atresia, Posteriorly rotated ears, Hearing impairment, Depresse... ORPHA:284169
Pituitary Hormone Deficiency, Combined, 1
Midface retrusion, Delayed cranial suture closure, Malar flattening, Frontal bossing OMIM:613038
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Short stature, Male infertility... ORPHA:261529
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Disproportionate short stature, Oligospermia, Mandibular prognathia, Growth delay, Small for gest... OMIM:614813
Bosma Arhinia Microphthalmia Syndrome
Hypoplasia of teeth, Absent tragus, Conductive hearing impairment, Atresia of the external audito... OMIM:603457
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Pleural effusion, Wide nasal bridge, Posteriorly rotated ears, Low-set ears, Pulmonar... OMIM:616897
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bulbous nose, Short nose, Macrotia, Mandibular prognathia, Wide nasal bridge, Low-set ears, Multi... ORPHA:369891
Leukocyte Adhesion Deficiency Type Ii
Small earlobe, Depressed nasal ridge, Conductive hearing impairment, Recurrent otitis media, Mand... ORPHA:99843
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Frontal bossing, Thin calvarium, Midface retrusion, Delayed cranial suture closure, Micrognathia ORPHA:1129
Craniometadiaphyseal Dysplasia
Cubitus valgus, Wormian bones, Genu valgum, Carious teeth, Wide anterior fontanel, Mandibular pro... OMIM:269300
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Hearing impairment, Optic atrophy, Decreased nerve conduction velocity, Micrognathia OMIM:256600
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Brachydactyly, Type B1
Wide anterior fontanel, Vertebral fusion, Delayed cranial suture closure, Joint contracture of th... OMIM:113000
Schinzel-Giedion Syndrome
Recurrent pneumonia, Delayed eruption of teeth, Infantile sensorineural hearing impairment, Short... ORPHA:798
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Short nose, Bulbous nose, Posteriorly rotated ears, Low-set ears, Depressed nasal bridge, Obesity OMIM:618430
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Thin calvarium, Obtuse angle of mandible, Parietal bossing... ORPHA:85184
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Interictal EEG abnormality, Short nose, EEG with focal epileptiform discharges, EEG with generali... ORPHA:544503
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad columella, Short nose, Failure to thrive, Depressed nasal bridge OMIM:617865
Pfeiffer Syndrome Type 2
Short nose, Atresia of the external auditory canal, Choanal atresia, Tracheomalacia, Laryngomalac... ORPHA:93259
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large fontanelles, Mandibular prognathia, Abnormality of the zygomatic bone, Flat occiput, Delaye... ORPHA:2511
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short nose, Hypoplasia of the maxilla, Mandibular prognathia, ... ORPHA:439822
Microphthalmia With Limb Anomalies
Short nose, Posteriorly rotated ears, Flared nostrils, Low-set ears, Retrognathia, Depressed nasa... OMIM:206920
Grant Syndrome
Wormian bones, Frontal bossing, Large fontanelles, Joint dislocation, Brachycephaly, Micrognathia ORPHA:2097
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide nasal bridge, Anteverted nares, Microtia, Depressed nasal bridge OMIM:611717
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Protruding ear, Short nose OMIM:615539
Fg Syndrome Type 1
Slender build, Choanal atresia, Cupped ear, Sensorineural hearing impairment, Stenosis of the ext... ORPHA:93932
Peho Syndrome
Short nose, Macrotia, Hypsarrhythmia, External ear malformation, EEG abnormality, Optic atrophy, ... ORPHA:2836
Warburg Micro Syndrome 2
Asymmetry of the ears, Short nose, Macrotia, Optic atrophy, Prominent nasal bridge OMIM:614225
Townes-Brocks Syndrome 2
Cupped ear, Microtia, Overfolded helix OMIM:617466
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Short nose ORPHA:2598
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia OMIM:602471
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Frontal bossing, Camptodactyly of toe, Abnormality of calvarial morphology, Del... OMIM:175700
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Monosomy 9P
Anotia, Abnormality of the antihelix, Short nose, Atresia of the external auditory canal, Choanal... ORPHA:261112
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Osteopathia Striata With Cranial Sclerosis
Overfolded helix, Conductive hearing impairment, Natal tooth, Tracheomalacia, Wide nasal bridge, ... OMIM:300373
Premature Aging Syndrome, Penttinen Type
Wormian bones, Delayed eruption of teeth, Thin calvarium, Midface retrusion, Delayed cranial sutu... OMIM:601812
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Narrow internal auditory canal, Conductive hearing impairment,... ORPHA:861
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal OMIM:601356
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Dolichocephaly, Dentinogenesis imperfecta ORPHA:166277
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Thickened helices, Hypoplastic helices, Anteverted ears, Abnormality of the pinna, Wide nasal bri... OMIM:617641
Arthrogryposis, Distal, Type 2A
Short nose, Underdeveloped nasal alae, Mandibular prognathia, Wide nasal bridge, Hearing impairme... OMIM:193700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Absent brainstem auditory responses, Sensorineural hearing impairment, As... ORPHA:52368
Hypogonadism-Cataract Syndrome
Infertility, Hypogonadism, Male hypogonadism OMIM:240950
Cataract, Aberrant Oral Frenula, And Growth Retardation
Posteriorly rotated ears, Anteverted nares, Short nose OMIM:115645
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Acrodysostosis
Delayed eruption of teeth, Short nose, Hypoplasia of the maxilla, Mandibular prognathia, Wide nas... ORPHA:950
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Prominence of the premaxilla, Short nose, Broad nasal tip, Anteverted nares OMIM:137550
Glutamine Deficiency, Congenital
Short nose, Wide nasal bridge, Low-set ears, Anteverted nares, Recurrent respiratory infections, ... OMIM:610015
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Atresia of the external auditory canal, Mandibular prognathia, Low-... ORPHA:2673
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Sener Syndrome
Wide anterior fontanel, Natal tooth, Posteriorly rotated ears, Delayed eruption of permanent teet... OMIM:606156
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Craniosynostosis, Wide anterior fontanel, Midface retrusion, Skull asymmetry, Brac... OMIM:601853
Smith-Magenis Syndrome
Delayed eruption of primary teeth, Short nose, Taurodontia, Conductive hearing impairment, Mandib... ORPHA:819
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Narrow nasal bridge ORPHA:1514
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Aplasia/Hypoplasia of the lungs, Tracheoesophageal fistula, Microtia ORPHA:1834
Ear-Patella-Short Stature Syndrome
Mandibular aplasia, Anotia, Growth delay, Atresia of the external auditory canal, Severe short st... ORPHA:2554
Spondyloepiphyseal Dysplasia, Nishimura Type
Wide anterior fontanel, Frontal bossing, Anterior plagiocephaly, Abnormality of the elbow, Abnorm... ORPHA:163649
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Pallister-Hall Syndrome
Abnormal lung lobation, Bifid epiglottis, Short nose, Atresia of the external auditory canal, Nat... OMIM:146510
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Low-set ears, Failure to thrive, Microtia OMIM:277380
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Sensorineural hearing impairment, ... ORPHA:79237
Ayme-Gripp Syndrome
Short nose, Mandibular prognathia, Wide nasal bridge, Posteriorly rotated ears, Low-set ears, Hea... OMIM:601088
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Short nose, EEG with multifocal slow activity ORPHA:289266
Meier-Gorlin Syndrome 7
Choanal atresia, Decreased body weight, Hearing impairment, Pulmonary hypoplasia, Microtia OMIM:617063
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Bilateral sens... ORPHA:1435
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Anteverted nares, Short nose ORPHA:168549
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Short nose, Failure to thrive, Depressed nasal bridge OMIM:608776
Distal Trisomy 5Q
Carious teeth, Short nose, Macrotia, Low-set ears, Micrognathia, Prominent nasal bridge ORPHA:96097
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
21Q22.11Q22.12 Microdeletion Syndrome
Bulbous nose, Recurrent otitis media, Failure to thrive in infancy, Low-set ears, Anteverted nare... ORPHA:261323
Desmosterolosis
Short nose, Micrognathia, Posteriorly rotated ears, Cupped ear, Low-set ears, Failure to thrive, ... OMIM:602398
Achondrogenesis
Micrognathia, Aplasia/Hypoplasia of the lungs, Anteverted nares, Short nose ORPHA:932
Diamond-Blackfan Anemia 11
Atresia of the external auditory canal, Stenosis of the external auditory canal OMIM:614900
Chops Syndrome
Short nose, Laryngomalacia, Hearing impairment, Aspiration pneumonia, Tracheal stenosis, Optic at... OMIM:616368
Rhombencephalosynapsis
Short nose, Microretrognathia, Low-set, posteriorly rotated ears, Aganglionic megacolon, Septo-op... ORPHA:59315
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Disproportionate short stature, Postnatal growth retardation, Truncal obesity,... OMIM:210720
Faciocardiorenal Syndrome
Micrognathia, Microtia, Wide nasal bridge OMIM:227280
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Marshall-Smith Syndrome
Prominence of the premaxilla, Short nose, Choanal stenosis, Overfolded helix, Choanal atresia, De... OMIM:602535
Developmental And Epileptic Encephalopathy 75
Short nose, Hypsarrhythmia, Wide nasal bridge, Optic atrophy, Anteverted nares, Optic disc pallor OMIM:618437
Kagami-Ogata Syndrome