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Gene: Ddx10 MGI:1924841

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Gene Summary

Name:
DEAD box helicase 10
Synonyms:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 10,  4632415A01Rik

Order Alleles

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
preweaning lethality, complete penetrance Ddx10em1(IMPC)Bay HOM   Early adult 0.00
embryonic growth retardation Ddx10em1(IMPC)Bay HET E9.5 0.00
abnormal embryo size Ddx10em1(IMPC)Bay HET E9.5 0.00

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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.

Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Human diseases caused by Ddx10 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ddx10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
17Q21.31 Microduplication Syndrome
Anteverted nares, Abnormality of the dentition, Microcephaly, High palate, Short philtrum, Short ... ORPHA:217340
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose, Long philtrum OMIM:125700
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Short nose, Anteverted nares, Cleft palate ORPHA:2015
Intellectual Developmental Disorder, X-Linked 91
High palate, Short nose, Macrodontia, Obesity OMIM:300577
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Microcephaly, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Weaver-Williams Syndrome
Decreased body weight, Microcephaly, Cleft palate, Narrow mouth ORPHA:3448
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Clark-Baraitser Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Micr... OMIM:617752
Non-Distal Duplication 10Q
Depressed nasal bridge, Microcephaly, Joint hyperflexibility, High palate, Everted lower lip verm... ORPHA:1695
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Obesity, Macrocephaly, Short nose, Open mouth OMIM:613670
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Wide mouth, Truncal obesity, Everted lower lip vermilion, Short philtru... ORPHA:2429
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... ORPHA:1200
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Microcephaly, Flexion contracture, Short nose, Failure to thrive OMIM:618379
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... ORPHA:1906
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Microcephaly, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... ORPHA:1832
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Small for gestational age, Primary microcephaly OMIM:245570
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Convex nasal ridge OMIM:600252
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Progressive microcephaly, Long philtrum, Short ... ORPHA:438178
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Exaggerated cupid's bow, Deep philtrum, High palate, Everted lower lip ve... ORPHA:261120
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Chromosome 3Q29 Duplication Syndrome
Microcephaly, Bulbous nose, Wide nasal bridge, Obesity, Macrocephaly, Short nose OMIM:611936
Trigonocephaly 1
Craniosynostosis, Microcephaly, High, narrow palate, Wide nasal bridge, Long philtrum, Short nose... OMIM:190440
Maxillonasal Dysplasia
Depressed nasal bridge, Open bite, Depressed nasal ridge, Cleft palate, Tooth agenesis, Short col... ORPHA:1248
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Short nose, Thin vermilion border, Narrow mouth ORPHA:2370
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cleft lip, E... OMIM:619110
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum OMIM:302950
Pierpont Syndrome
Smooth philtrum, Wide nose, Broad nasal tip, Microcephaly, Broad philtrum, Prominent median palat... OMIM:602342
Adducted Thumbs Syndrome
Craniosynostosis, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, ... OMIM:201550
Achondrogenesis
Anteverted nares, Abnormal enchondral ossification, Macrocephaly, Abnormality of bone mineral den... ORPHA:932
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion OMIM:155050
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, Microcephaly, Pr... OMIM:613544
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Cachexia, Abnormal soft pa... ORPHA:884
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Exaggerated cupid's bow, Microcephaly, Wide mouth, Delayed eruption of permanen... OMIM:618506
Catifa Syndrome
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Mild microcephaly, Increase... OMIM:618761
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Microcephaly, High palate, Long philtrum ORPHA:2598
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short nose, Abnormal palate morphology, Long philtrum ORPHA:1389
Chung-Jansen Syndrome
Anteverted nares, Obesity, Thin vermilion border, High palate, Short philtrum, Long philtrum, Sho... OMIM:617991
Melanocytic Nevus Syndrome, Congenital
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... OMIM:137550
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle... OMIM:619736
Acromicric Dysplasia
Anteverted nares, Joint stiffness, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short n... ORPHA:969
9q subtelomeric deletion syndrome
Short nose, Microcephaly, Anteverted nares, Protruding tongue DECIPHER:52
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Microcephaly, Narrow mouth, Short nose, Abnormal palate morphology ORPHA:1495
Perlman Syndrome
Anteverted nares, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal upper lip morpholo... ORPHA:2849
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Prominent nasal bridge, Cleft palate, Microcephaly ORPHA:85273
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Microcephaly, Wide nasal b... OMIM:615716
Verheij Syndrome
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Anteverted nares, Small for gestational... OMIM:615583
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephaly, High palate, Sh... OMIM:300558
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Gingival overgrowth, Redu... ORPHA:561
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Joint stiffness, Downturned corners of mouth, Thin vermilion b... ORPHA:1895
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Microcephaly, Thick vermilion border, Long philtrum ORPHA:833
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Overweight, Recurrent upper respiratory tract infections, Flexion contracture, D... ORPHA:391372
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed... ORPHA:1529
Achondrogenesis Type 1A
Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Macrocephaly, Long philt... ORPHA:93299
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... OMIM:619854
Temple Syndrome
Relative macrocephaly, Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational... OMIM:616222
17P13.3 Microduplication Syndrome
Wide nose, High palate, Short nose, Narrow mouth ORPHA:217385
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Depressed nasal bridge, Craniosynostosis, Macrocephaly, Short nose OMIM:614732
Peho-Like Syndrome
Short nose, Open mouth, Progressive microcephaly OMIM:617507
Achondrogenesis Type 1B
Anteverted nares, Abnormal enchondral ossification, Macrocephaly, Short nose, Long philtrum ORPHA:93298
Baker-Gordon Syndrome
Joint laxity, Thin upper lip vermilion, Prominent nasal tip, Short nose, Smooth philtrum OMIM:618218
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... OMIM:601224
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose OMIM:300581
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Open mouth, Downturned corn... OMIM:614744
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Hyposmia OMIM:614838
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Pierre-Robin sequence, Wide nasal bridg... OMIM:613604
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Thin upper lip vermilion, Microcephaly, Wide mouth, Joint contracture, Short nose, ... OMIM:615419
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Reduced bone mineral density, Downturned corners of mouth, Joint hyperflexibili... ORPHA:1185
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Cleft upper lip, Microcephaly, Bulbous nose, Wide nasal bridge, Cleft palate, D... OMIM:300958
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Joint stiffness, Microcephaly, Non-midline cleft lip,... ORPHA:1915
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Dental cro... OMIM:617201
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Obesity, Radioulnar synostosis, Short... ORPHA:171839
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Congenital contracture, High palate, Secondary microcephaly, Short nose OMIM:615042
Desmosterolosis
Relative macrocephaly, Hypoplastic nasal bridge, Failure to thrive, Anteverted nares, Microcephal... OMIM:602398
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Downturned corners of mouth, Progressive microcephaly, Widely spaced teet... OMIM:617865
Pallister-Hall-Like Syndrome
Median cleft lip, Depressed nasal bridge, Microcephaly, Cleft palate, Macrocephaly, Microglossia,... OMIM:241800
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Cleft palate, Downturne... ORPHA:163649
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Cleft soft p... OMIM:616331
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Unilambdoid synostosis, Wide nasal bridge, Long philtrum, Short nose, Broad phi... OMIM:618577
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Anteverted nares, Fractured radius, Small for gestational age, Microcephaly, Multiple... OMIM:616897
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Large for ges... OMIM:615398
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Thin upper lip vermilion, Deep philtrum, Dental malocclusion, Contractures of the lar... ORPHA:329178
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Al-Raqad Syndrome
Joint laxity, Thin upper lip vermilion, Microcephaly, Narrow mouth, Short nose OMIM:616459
Stickler Syndrome Type 1
Osteoarthritis, Cleft palate, Joint hyperflexibility, Long philtrum, Short nose ORPHA:90653
Macrocephaly/Autism Syndrome
Joint laxity, Depressed nasal bridge, Large for gestational age, Obesity, High palate, Biparietal... OMIM:605309
Tetrasomy 18P
Microcephaly, Thin vermilion border, Narrow mouth, Short nose, Long philtrum ORPHA:3307
Chondrodysplasia With Joint Dislocations, Gpapp Type
Capitate-hamate fusion, Wide nasal bridge, Cleft palate, Narrow mouth, Coronal craniosynostosis, ... OMIM:614078
Arthrogryposis, Distal, Type 2A
Dental crowding, Knee flexion contracture, High palate, Wrist flexion contracture, Pursed lips, N... OMIM:193700
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Thin upper lip vermilion, Wide nose, Anteverted nares, Small for gestational age, M... ORPHA:391408
Oculoauriculofrontonasal Syndrome
Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Microcephaly, Cleft palate, Mac... ORPHA:398156
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Prominent nasal b... ORPHA:401935
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... ORPHA:364577
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Thin vermilion border, Secondary microcephaly, Long philtrum, Sho... OMIM:616420
Ohdo Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hypoplasia of teeth, T... OMIM:249620
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... OMIM:613443
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Microcephaly, Flexion contracture, Osteoporosis, Secondary microcephaly, Short nose, F... OMIM:615851
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Microcephaly, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, S... OMIM:619356
Lowry-Maclean Syndrome
Osteopenia, Choanal atresia, Delayed eruption of primary teeth, Craniosynostosis, Microcephaly, H... ORPHA:2409
Intellectual Developmental Disorder, X-Linked 21
Tented upper lip vermilion, Dental crowding, Open mouth, Short nose, Joint hypermobility OMIM:300143
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Pyloric stenosis,... ORPHA:96184
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Epiphyseal stippling, Sh... ORPHA:1914
Meckel Syndrome, Type 8
Microcephaly, Cleft upper lip, Depressed nasal ridge, Cleft palate, Short nose OMIM:613885
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Short nose, Secondary microcephaly, Primary microcephaly ORPHA:289266
Robinow Syndrome, Autosomal Recessive 2
Relative macrocephaly, Anteverted nares, Cleft soft palate, Broad nasal tip, Abnormality of the d... OMIM:618529
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Macrocephaly, Ob... OMIM:620250
Non-Distal Duplication 13Q
Abnormality of the dentition, Microcephaly, Thin vermilion border, High palate, Everted lower lip... ORPHA:1702
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Microcephaly, Wide nasal bridge, Oro... OMIM:243310
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Microcephaly, Open bite, Abnor... ORPHA:1327
Miller-Dieker Syndrome
Abnormal upper lip morphology, Short nose, Anteverted nares ORPHA:531
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Bulbous nose,... OMIM:614105
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental morphology, Carious te... ORPHA:1716
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Obesi... OMIM:618430
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Orofacial cl... ORPHA:65286
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Generalized joint laxity, High palate, Short philtrum, Microdontia, ... ORPHA:251028
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Microcephaly, Wide nasal bridge, Joint contracture, High palate, Short nose, Failure ... OMIM:618005
Bartsocas-Papas Syndrome
Median cleft lip, Underdeveloped nasal alae, Microcephaly, Cleft palate, Narrow mouth, Short nose... ORPHA:1234
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, A... OMIM:617877
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Microcephaly, Wide mouth, Long philtrum, Short nose, Failure to thrive OMIM:608776
Hamel Cerebro-Palato-Cardiac Syndrome
Microcephaly, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth ORPHA:93946
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Short nose, Convex nasal ridge, Cleft palate ORPHA:2145
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Microcephaly, Flexion contracture, Hyperextensibility at wrists, Hypodontia,... ORPHA:544503
Tetraploidy
Microcephaly, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing, Convex nasal ... ORPHA:3305
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... OMIM:615866
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Recurrent fractures, Craniosynostosis, Joint stiffness, Campto... ORPHA:83
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Microcephaly, ... OMIM:614749
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Macrocephaly, Lymphoid nodular hyperplasia, Short nose ORPHA:210548
Difference Of Sex Development-Intellectual Disability Syndrome
Reduced bone mineral density, Downturned corners of mouth, Thin vermilion border, Short philtrum,... ORPHA:2983
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Short philtrum, Secondary microcephaly, Open mouth, Short nose OMIM:618437
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Large for gestational age, Open mouth, Macrocep... OMIM:616638
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border,... ORPHA:2701
Smith-Magenis Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary... ORPHA:819
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Deep philtrum, De... OMIM:613320
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Down Syndrome
Joint laxity, Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of th... ORPHA:870
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Cleft upper lip, Capitate-hamate fusion, Deep philtrum, Flared nostrils, ... OMIM:206920
Desmosterolosis
Increased bone mineral density, Depressed nasal bridge, Intestinal malrotation, Abnormality of th... ORPHA:35107
3Q29 Microduplication Syndrome
Craniosynostosis, Abnormality of the dentition, Microcephaly, Deep philtrum, Wide nasal bridge, C... ORPHA:251038
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Depressed nasal bridge, Microcephaly OMIM:616910
Microcephaly-Capillary Malformation Syndrome
Wide nose, Small for gestational age, Cleft palate, Short nose, Failure to thrive, Progressive mi... OMIM:614261
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Macrocephaly, Short nose, Failure to th... OMIM:613735
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis, Anosmia, Cleft palate OMIM:614880
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge, Macrocephaly ORPHA:2835
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Anteverted nares, Advanced ossification of carpal bones, Obesity, Short nose OMIM:614613
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... ORPHA:1135
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Microcephaly, Velopharyngeal ... OMIM:614701
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Thin vermilion ... OMIM:610015
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Decreased skull ossification, Depressed nasal ridge, Macrocephaly OMIM:300863
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Prom... OMIM:618316
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Microcephaly, Wide nasal bridge, Gingival overgrowth, ... OMIM:619179
C Syndrome
Fused sternal ossification centers, Anteverted nares, Accessory oral frenulum, Microcephaly, Wide... OMIM:211750
Acrocephalopolydactyly
Short nose, Depressed nasal ridge ORPHA:221054
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Downturned corners of mouth, Macroglossi... ORPHA:369891
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose, Camptodactyly OMIM:615539
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Underdeveloped nasal alae, Abnormality of the dentition, Malabsorption... ORPHA:2315
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Short nose, Anal atresia OMIM:616854
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Primary microcephaly, Short nose, S... OMIM:618828
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Microcephaly, Carious teeth, High palate, Narrow mouth, Short nose, Failure to ... OMIM:219200
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... ORPHA:280200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... OMIM:614069
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal alae, Cleft... OMIM:164200
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares, Short philtrum, Open mouth ORPHA:228384
Fetal Trimethadione Syndrome
High palate, Short nose, Depressed nasal bridge, Microcephaly ORPHA:1913
Foxg1 Syndrome Due To 14Q12 Microdeletion
Tented upper lip vermilion, Depressed nasal bridge, Microcephaly, Bulbous nose, Macroglossia, Eve... ORPHA:261144
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Tented upper lip vermilion, Short philtrum ORPHA:85277
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Microcephaly, Deep p... OMIM:619833
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Abnormality of the... ORPHA:363528
Desbuquois Dysplasia 1
Joint laxity, Depressed nasal bridge, Osteoarthritis, Osteoporosis, Advanced ossification of carp... OMIM:251450
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Short n... OMIM:242860
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose OMIM:618774
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose, Coarse metaphyseal trabecularization OMIM:618961
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Flexion contracture, Wide nasa... OMIM:619383
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Dental crowding, Intestinal malrotation, Joint hypermobility, Long nose, Carious... OMIM:617602
Glass Syndrome
Smooth philtrum, Anteverted nares, Prominent nasal bridge, Dental crowding, Broad nasal tip, Long... OMIM:612313
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Microcephaly, Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:2521
Peho Syndrome
Anteverted nares, Microcephaly, Open mouth, Flexion contracture, Limitation of joint mobility, Gi... ORPHA:2836
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Dental crowding, Humeroradial synostosis, Coronal cranio... OMIM:101600
Fetal Hydantoin Syndrome
Microcephaly, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short... ORPHA:1912
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Failure t... OMIM:616430
Orofaciodigital Syndrome Ix
Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abnormality of the d... OMIM:258865
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Cle... OMIM:239300
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... OMIM:145420
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Underdeveloped nasal alae, Carious teeth, Microcephaly, Wide nasal bridge, Thin... OMIM:613026
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Anteverted nares, Cleft upper lip, Wide na... OMIM:305400
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal... OMIM:613870
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Microcephaly, Long philtrum OMIM:300887
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Microcephaly, Bulbous nose, Wi... OMIM:617061
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Failure to ... ORPHA:1973
Codas Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted ... ORPHA:1458
Pterygium Colli, Isolated
Short nose OMIM:177990
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Microcephaly, Pierre-Robin sequence, Cleft pa... ORPHA:1358
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno... ORPHA:1790
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostos... OMIM:605627
Acrodysostosis
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Open bite, Depressed nasal r... ORPHA:950
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Dow... OMIM:618590
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Hyposmia OMIM:147950
Raine Syndrome
Natal tooth, Increased bone mineral density, Depressed nasal bridge, Choanal atresia, Protruding ... OMIM:259775
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef... ORPHA:261236
Trisomy 8Q
Camptodactyly of finger, Joint stiffness, Non-midline cleft lip, Bone cyst, Wide nasal bridge, Cl... ORPHA:1752
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Craniosynostosis, Thin vermilion border, High palate, Short nose, Smooth philtrum OMIM:601853
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Under... OMIM:615485
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Microcephaly, Progressive microce... OMIM:617802
Toluene Embryopathy
Microcephaly, Thin vermilion border, Biparietal narrowing, Short nose, Smooth philtrum ORPHA:1920
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Joint hyperflexibility, Short nose, Dentinogen... ORPHA:166272
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Bulbous nose, Wide mouth, Thin vermilion border, Long philtrum, Short nose, ... ORPHA:485405
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Abnormality of the ... ORPHA:363417
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Limitation of joint mobility, Camptodactyly of finger, Duodenal stenosis ORPHA:2547
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Long philtrum, Short nose ORPHA:93329
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Tented upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Microcephaly, T... OMIM:616723
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Broad nasal tip, Microcephaly, Wide nasal bridge, Progressive microcephal... OMIM:300749
Femoral-Facial Syndrome
Thin upper lip vermilion, Cleft palate, Orofacial cleft, Radioulnar synostosis, Long philtrum, Sh... ORPHA:1988
Peho Syndrome
Short nose, Tented upper lip vermilion, Open mouth, Progressive microcephaly OMIM:260565
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ... OMIM:610828
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Microcephaly, Wide nasal bridge, Obesity, Weight loss, Thin vermilion bor... ORPHA:251071
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Narrow nasal ridge, Premature loss of teeth, Flexion contracture, Hypoplasia of ... OMIM:608612
Ruvalcaba Syndrome
Dental crowding, Microcephaly, Thin vermilion border, Narrow mouth, Short nose, Convex nasal ridg... ORPHA:3121
Schisis Association
Small for gestational age, Microcephaly, Tracheoesophageal fistula, Cleft palate, Unilateral clef... ORPHA:63862
Meier-Gorlin Syndrome 6
Anteverted nares, Depressed nasal bridge, Small for gestational age, Underdeveloped nasal alae, M... OMIM:616835
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Microcephaly, Recurrent upper respiratory tract infections, Contractur... ORPHA:3078
Jaberi-Elahi Syndrome
Depressed nasal bridge, Joint stiffness, Microcephaly, Triangular mouth, Short nose, Failure to t... OMIM:617988
Trisomy 12P
Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Short ... ORPHA:1699
Donnai-Barrow Syndrome
Short nose, Depressed nasal bridge, Intestinal malrotation, Macrocephaly ORPHA:2143
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Wide nasal bridg... OMIM:615803
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Failure to thrive, Prominent nasal bridge, ... OMIM:601812
Intellectual Developmental Disorder, X-Linked 98
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und... OMIM:300912
Distal Duplication 5Q
Prominent nasal bridge, Craniosynostosis, Microcephaly, Carious teeth, Thin vermilion border, Nar... ORPHA:96097
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Microcephaly, Esophageal atresia, Deep philtrum, Cleft palate,... OMIM:610536
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Abnormality... OMIM:608156
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Microcephaly, ... OMIM:614207
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal... OMIM:608022
Malan Syndrome
Gingival overgrowth, Macrocephaly, Everted lower lip vermilion, Narrow mouth, Advanced eruption o... OMIM:614753
Microlissencephaly-Micromelia Syndrome
Short nose, Failure to thrive, Secondary microcephaly, Long philtrum ORPHA:50810
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Failure to thrive, Depressed nasal bridge, Tarsal synostosis, Cam... ORPHA:90652
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Osteoarthritis, Thick low... ORPHA:560
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Advanced tarsal ossification, Cleft palate, Macrocephaly, ... OMIM:269250
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Relative macrocephaly, Depressed nasal bridg... OMIM:115150
Prolidase Deficiency
Depressed nasal bridge, Concave nasal ridge, High palate, Short nose, Failure to thrive OMIM:170100
Tetrasomy 5P
Anteverted nares, Wide nasal bridge, Macrocephaly, High palate, Long philtrum, Short nose, Failur... ORPHA:3309
Pde4D Haploinsufficiency Syndrome
Joint laxity, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel morphology... ORPHA:439822
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Downturned corners of mo... OMIM:618571
Waardenburg Syndrome Type 1
Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underdeveloped nasal alae, Wi... ORPHA:894
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Flexion contracture, High palate, Wide nasal bridge OMIM:218000
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Microcephaly, Wide mouth, Long philtrum, Short nose, ... OMIM:103050
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Carious teeth, Generalized joint laxity, Prominent nasolabial ... ORPHA:357074
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Joint stiffness, Anosmia, Abnormal nostril morphology, Short nose ORPHA:1295
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose, Failure ... OMIM:613038
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Anteverted nares, Microce... OMIM:247200
Distal Deletion 10Q
Smooth philtrum, Thin upper lip vermilion, Prominent nasal bridge, Craniosynostosis, Prominent no... ORPHA:96148
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Tented philtr... ORPHA:363659
Opsismodysplasia
Abnormally ossified vertebrae, Depressed nasal bridge, Joint stiffness, Macrocephaly, Short nose ORPHA:2746
Mandibulofacial Dysostosis-Microcephaly Syndrome
Cleft palate, Short nose, Secondary microcephaly, Accessory oral frenulum ORPHA:79113
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Anteverted nares, Cleft lip, Dental malocclusion, Wide nasal bridge, Ging... OMIM:616894
1P21.3 Microdeletion Syndrome
Broad nasal tip, Obesity, Wide mouth, Macrocephaly, Short nose, Joint hypermobility ORPHA:293948
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Short ... ORPHA:284169
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Depressed nasal bridge, Anteverted nares, Large for gestational age, Open mouth, C... OMIM:614080
Lathosterolosis
Anteverted nares, Microcephaly, Bulbous nose, Gingival overgrowth, Downturned corners of mouth, H... ORPHA:46059
Oculodentodigital Dysplasia
Narrow nasal bridge, Median cleft lip, Anteverted nares, Abnormal dental enamel morphology, Prema... ORPHA:2710
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Underdeveloped nasal alae, Short nose ORPHA:2083
Dermotrichic Syndrome
Aganglionic megacolon, Short nose, Depressed nasal bridge ORPHA:99688
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Biparietal narrowing, Short nose ORPHA:2031
3C Syndrome
Depressed nasal bridge, Intestinal malrotation, High, narrow palate, Wide nasal bridge, Orofacial... ORPHA:7
Intellectual Developmental Disorder, Autosomal Dominant 1
Thin upper lip vermilion, Prominent nose, Microcephaly, Bulbous nose, Depressed nasal ridge, Down... OMIM:156200
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal ... OMIM:619859
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Depressed nasal... ORPHA:2753
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Limitation of joint mobility, Cl... ORPHA:93259
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Protruding tongue, Microcephaly, Obesity, Downturned corners of mouth, Macroglo... ORPHA:96147
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
16P11.2P12.2 Microdeletion Syndrome
Anteverted nares, Camptodactyly of finger, Long nose, Bulbous nose, Orofacial cleft, Absent nasal... ORPHA:261211
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Abnormality of the dentition, Primary microcephaly, Eruption failure, High palat... ORPHA:476126
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Anteverted nares, Microcephaly, Pierre-Robin sequence, Cleft palate, Ante... OMIM:217980
Pfeiffer Syndrome Type 1
High palate, Short nose, Depressed nasal bridge, Bicoronal synostosis ORPHA:93258
Au-Kline Syndrome
Failure to thrive, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nas... OMIM:616580
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Anteverted nares, ... OMIM:607812
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macrocephaly, Macroglossia, H... ORPHA:357001
Mietens Syndrome
Wide nose, Joint stiffness, Microcephaly, Wide nasal bridge, Short nose, Elbow ankylosis ORPHA:2557
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Microcephaly, Cleft lip, Single naris... OMIM:142945
Rhombencephalosynapsis
Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Macroceph... ORPHA:59315
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose ORPHA:1514
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Small for gestational age, Craniosynostosis, Microcephaly, Bulbous nose, ... OMIM:614114
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Prominent nose,... ORPHA:177907
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Cessation of head growth, Contractures of the large joints, Progressi... OMIM:617527
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Depressed nasal ridge, Short nose ORPHA:2831
Cerebrofaciothoracic Dysplasia
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Macrocephaly, Short nose, Broad philtrum ORPHA:1394
Micro Syndrome
Anteverted nares, Joint stiffness, Microcephaly, Wide nasal bridge, High palate, Short philtrum, ... ORPHA:2510
Warburg Micro Syndrome 3
Microcephaly, Flexion contracture, Narrow palate, Downturned corners of mouth, Secondary microcep... OMIM:614222
Distal Deletion 9P
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose ORPHA:1642
Autosomal Dominant Omodysplasia
Short nose, Depressed nasal bridge, Long philtrum ORPHA:93328
Trisomy 20P
Anteverted nares, Camptodactyly of finger, Abnormality of the dentition, Reduced bone mineral den... ORPHA:261318
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microcephaly, Everted lowe... OMIM:608013
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, High, narrow palate, Radioulnar synostosis, Short philtrum, Hy... ORPHA:3258
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Wide nose, Vertebral fusion, Anteverted nares, Craniosyn... OMIM:213980
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Abnormality of the dentition, Carious teeth, Microcephaly, Tooth agenesis, Short... ORPHA:1786
Robinow Syndrome
Dental crowding, Orofacial cleft, Long philtrum, Fused thoracic vertebrae, Depressed nasal bridge... ORPHA:97360
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Limited knee flexion, Capitate-hamate fusion, Wide nasal bridge, Cleft ... OMIM:311300
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Tented upper lip vermilion, Microcephaly, Contractures o... ORPHA:521426
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Relative macrocephaly, Depressed nasal bridge, Anteverted nares, Abnormality of the d... OMIM:271510
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Short nose, Thick nasal alae ORPHA:163961
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Macrocephaly, High palate, Camptodactyly, Arthrogryposi... OMIM:617822
Baller-Gerold Syndrome
Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Malabsorption, Cleft p... ORPHA:1225
Kleefstra Syndrome
Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow,... ORPHA:261494
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Limitation of joint mobility, Cl... ORPHA:93260
Developmental Delay With Or Without Dysmorphic Facies And Autism
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent na... OMIM:618454
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Thin upper lip vermilion, Anteverted nares, Small for gestational age, Craniosynostos... ORPHA:363611
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Abnormality of the dentition, Osteolysis, Osteolytic d... ORPHA:90154
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Microcephaly, Tri... OMIM:257300
Chops Syndrome
Anteverted nares, Microcephaly, High, narrow palate, Obesity, Downturned corners of mouth, Long p... OMIM:616368
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Thick lower lip vermilion, Pierre-Robin sequence, Knee ... OMIM:154780
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Synosto... ORPHA:1507
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Cachexia,... ORPHA:109
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Abnormal h... OMIM:200600
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Short nose, Joint hemorrhage, Epistaxis OMIM:277450
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Depressed nasal bridge, Small for gestational age, Craniosynostosis, Br... OMIM:309590
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Micro... OMIM:244450
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Low inserti... OMIM:619005
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ... OMIM:608670
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Protruding tongue, Primary microcephaly, Progressive microcephaly, Thick vermilion bor... OMIM:608779
Osteoglophonic Dysplasia
Delayed eruption of teeth, Osteopenia, Depressed nasal bridge, Anteverted nares, Choanal atresia,... OMIM:166250
Musculocontractural Ehlers-Danlos Syndrome
Thin upper lip vermilion, Craniosynostosis, Cleft lip, Generalized joint laxity, Malrotation of s... ORPHA:2953
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Cleft palate, Macrocephaly, Microdonti... ORPHA:1812
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, Macrocephaly, High palat... ORPHA:457279
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Depressed nasal bridge, Underdeveloped nasal alae, Delayed epiphyseal ossification, F... OMIM:616007
Zttk Syndrome
Relative macrocephaly, Depressed nasal bridge, Craniosynostosis, Abnormality of the dentition, Su... OMIM:617140
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Deep philtrum, High palate,... ORPHA:314655
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short lingual f... OMIM:601358
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Short nose, Depressed nasal ridge, Short philtrum ORPHA:163966
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Wide nose, Decreased body weight, Anteverted nares, Micr... OMIM:303600
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Microcephaly, Wide nasal bridge, Macroglossia, High palate, Narrow mouth,... OMIM:613457
C Syndrome
Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Microcephaly, Failure to thriv... ORPHA:1308
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Orofaci... ORPHA:77301
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Broad nasal tip, Epiphyseal stippling of toe phalanges, Abnormal ... ORPHA:79345
Harel-Yoon Syndrome
Short nose OMIM:617183
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Microcephaly, Limitation of joint mobility, Narrow mout... ORPHA:2719
Lathosterolosis
Anteverted nares, Microcephaly, Osteoporosis, Wide nasal bridge, Gingival overgrowth, Thin vermil... OMIM:607330
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Geleophysic Dysplasia 1
Osteopenia, Anteverted nares, Camptodactyly of finger, Joint stiffness, Wide mouth, Long philtrum... OMIM:231050
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Cleft upper lip, Ope... ORPHA:828
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose, Microcephaly OMIM:618087
Trisomy 10P
Depressed nasal bridge, Anteverted nares, Small for gestational age, Abnormality of the nose, Pri... ORPHA:171929
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Microcephaly, Flexion contractu... OMIM:601675
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Tented upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Abnormality of ... ORPHA:457395
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Small for gestational age, Gout, Wide mouth, High palate, Short nose, Con... OMIM:300661
Poikiloderma With Neutropenia
Joint laxity, Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Joint stiffness, ... OMIM:604173
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Tented upper lip vermilion, Dental crowding, Shoulder flexion contracture, Limb ... OMIM:620369
Weiss-Kruszka Syndrome
Broad philtrum, Short nose, Anteverted nares, Exaggerated cupid's bow OMIM:618619
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Depressed nasal bridge, Small for gestational age, Supernumerary tooth... OMIM:268400
Trisomy 18
Choanal atresia, Camptodactyly of finger, Microcephaly, Cachexia, Esophageal atresia, Non-midline... ORPHA:3380
Marshall-Smith Syndrome
Irregular dentition, Large sternal ossification centers, Anteriorly placed anus, Glossoptosis, Ch... OMIM:602535
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Open bite, Deep philtrum, Wide mouth, Joint hyperflexib... ORPHA:1974
Fibrochondrogenesis 1
Depressed nasal bridge, Anteverted nares, Cleft palate, Narrow mouth, Short nose, Joint contractu... OMIM:228520
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Anteverted nares, Prominent nasal bridge, Deep philtrum, Dental malocclusion, H... OMIM:227330
Stuve-Wiedemann Syndrome 1
Pursed lips, Anteverted nares, Carious teeth, Osteoporosis, Pathologic fracture, Elbow flexion co... OMIM:601559
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Microcephaly, Wide nasal bridge, Short columella, Short philtrum, Macrocep... OMIM:613603
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... OMIM:180700
Warburg Micro Syndrome 2
Prominent nasal bridge, Microcephaly, Flexion contracture, Secondary microcephaly, Short nose OMIM:614225
Autosomal Dominant Robinow Syndrome
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Camptodactyly o... ORPHA:3107
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Submucous cleft hard pala... ORPHA:1340
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Microcephaly, Flexion contracture, Downturned corners ... OMIM:619321
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Microcephaly, Anteverted nares, Hypoplasia of teeth OMIM:234050
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Protruding tongue, Diaste... OMIM:301040
Fibrochondrogenesis 2
Short nose, Anteverted nares OMIM:614524
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Microcephaly, Wide nasal bridge, High palate, Long philtrum, Hyperexten... ORPHA:319182
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Microcephaly, Pyloric stenosis, Flexion contracture, Ma... OMIM:147791
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Tented upper lip vermilion, Depressed n... OMIM:268310
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Tracheomalacia... ORPHA:536467
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Anteverted nares, Limited elbow movement, Craniosynostosis, Long nose, Mi... ORPHA:508533
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Depressed nasal bridge, Anteve... ORPHA:1465
Dend Syndrome
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum ORPHA:79134
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Microcephaly, Wide nasal bridge, Submucous cleft soft palate... ORPHA:2282
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Protruding... ORPHA:50945
Donnai-Barrow Syndrome
Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Macrocephaly, Short nose OMIM:222448
White-Kernohan Syndrome
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Antev... OMIM:619426
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Microcephaly, Rectal ... OMIM:617157
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Microdontia, Advanced eruption of teeth, J... OMIM:615873
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Anteverted nares, Macrocephaly, Short nose, Failure to thrive ORPHA:3339
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Short nose, Camptod... OMIM:601353
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentition, Microcep... ORPHA:261112
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Smooth philtrum, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, Anteverted ... ORPHA:280633
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... OMIM:613458
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... OMIM:618332
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Contracture of the proximal interphalangeal joint of t... OMIM:301044
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Sagittal crani... ORPHA:536471
Alg9-Cdg
Thin upper lip vermilion, Villous atrophy, Depressed nasal bridge, Underdeveloped nasal alae, Wid... ORPHA:79328
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Anteverted nares, Block vertebrae, Tarsal synostosis, Broad nasal tip, Capitate... OMIM:272460
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Microcephaly, Wide nasal bridge, Cleft palate, Thin ver... ORPHA:1449
Aymé-Gripp Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Limitation of joint mobility,... ORPHA:1272
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... OMIM:305100
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Increased density of l... OMIM:269150
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... OMIM:229400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose ORPHA:496790
Geleophysic Dysplasia 2
Thin upper lip vermilion, Joint stiffness, Limitation of joint mobility, Long philtrum, Short nos... OMIM:614185
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Macrocephaly, Short nose, Long philtrum OMIM:258480
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Narrow naris OMIM:122880
Ayme-Gripp Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Wide nasal bridge... OMIM:601088
Sponastrime Dysplasia
Joint laxity, Relative macrocephaly, Wide nose, Aplasia of the nasal bone, Anteverted nares, Depr... ORPHA:93357
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Microcephaly, Triangular mouth, Joint contracture, Failure to thrive,... OMIM:618460
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, High, narrow palate, Thick lower lip vermilion, Eruptio... OMIM:230740
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Arterial Tortuosity Syndrome
Craniosynostosis, Hiatus hernia, Pyloric stenosis, Joint hyperflexibility, Esophagitis, Macroceph... ORPHA:3342
Molybdenum Cofactor Deficiency, Complementation Group B
Microcephaly, Thick vermilion border, Macrocephaly, Short nose, Long philtrum OMIM:252160
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid... ORPHA:2729
Deeah Syndrome
Malabsorption, Narrow palate, High palate, Short philtrum, Narrow mouth, Prominent nasal tip, Sho... OMIM:619004
Pallister-Hall Syndrome
Natal tooth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cleft upper lip, Microglo... OMIM:146510
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Small for gestational age, Craniosynostosis, Pr... OMIM:612289
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Anteriorly placed anus, Choanal stenosis, Elbow ankylos... ORPHA:95699
Molybdenum Cofactor Deficiency, Complementation Group A
Microcephaly, Thick vermilion border, Macrocephaly, Short nose, Long philtrum OMIM:252150
Trisomy 8P
Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Microcephaly, Recurrent up... ORPHA:264450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short philtrum, High palate, Decreased body weight, Joint laxity, Anteverted... OMIM:619475
Witteveen-Kolk Syndrome
High, narrow palate, Short philtrum, High palate, Joint laxity, Depressed nasal bridge, Anteverte... OMIM:613406
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Microcephaly, Esophageal atresia, Tracheoesophageal fistula, Downturned c... OMIM:301030
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose ORPHA:1129
Toriello-Carey Syndrome
Aganglionic megacolon, Microcephaly, Cleft palate, Anteriorly placed anus, High palate, Short nos... ORPHA:3338
Degcags Syndrome
Osteopenia, Prominent nose, High palate, Anteverted nares, Hiatus hernia, Thick vermilion border,... OMIM:619488
Omodysplasia 1
Depressed nasal bridge, Limited knee flexion, Wide nasal bridge, Limited knee flexion/extension, ... OMIM:258315
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, High palate, Left unilambd... OMIM:609942
Jacobsen Syndrome
Anteverted nares, Intestinal malrotation, Pyloric stenosis, Wide nasal bridge, Macrocephaly, Abno... ORPHA:2308
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Failure to thrive in infancy, Broad nasal tip, ... ORPHA:798
Ogden Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Depressed nasal bridge, Underdeveloped nas... OMIM:300855
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Anteverted nares, Microcephaly, Obesity, Downturned corners of mouth, G... ORPHA:444077
Cornelia De Lange Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Intestinal ... ORPHA:199
Aspartylglucosaminuria
Abnormality of the dentition, Carious teeth, Malabsorption, Joint stiffness, Wide nasal bridge, G... ORPHA:93
Phocomelia, Schinzel Type
High, narrow palate, Humeroradial synostosis, Tracheoesophageal fistula, Cleft palate, Short nose... ORPHA:2879
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint laxity, Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Narrow mouth, Gene... OMIM:601776
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Short nose, Craniosynostosis, Hypoplasia of the small intestine OMIM:200995
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Anteverted nares, Camptodactyly of finger, Cleft upper lip, High, narrow palate... ORPHA:373
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Relative macrocephaly, Hyperextensibility at elbow, Depressed nasal bridge, Joint hypermobility, ... ORPHA:500150
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Thin upper lip vermilion, Progressive flexion contractures, Prominent nasal tip, Sh... ORPHA:522077
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Small for gestational age, Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underdevel... ORPHA:268261
Atelosteogenesis, Type I
Fused cervical vertebrae, Short nose, Depressed nasal bridge, Cleft palate OMIM:108720
Cadds
Short nose ORPHA:369942
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Microcephaly, Wide nasal bridge, Knee flexion contracture, Thin vermilion borde... OMIM:609945
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Joint stiffness, Macrocephaly, Seconda... OMIM:618820
Bartsocas-Papas Syndrome 1
Anal stenosis, Cleft upper lip, Underdeveloped nasal alae, Flexion contracture, Cleft palate, Ora... OMIM:263650
Specc1L-Related Hypertelorism Syndrome
Prominent nasal bridge, Wide nasal bridge, Orofacial cleft, Thin vermilion border, Everted lower ... ORPHA:1519
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal bridge, Depressed nasal ridge, Elbow flexion contracture, Knee flexion contractur... OMIM:271665
Peroxisome Biogenesis Disorder 4B
Short nose, Macrocephaly OMIM:614863
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Thin upper lip vermilion, Broad nasal tip, Microcephaly, Wide nasal bridge, Macroce... OMIM:620330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Dental crowding, Prominent nose, Deep philtrum, Flexion ... OMIM:619503
Williams Syndrome
Osteopenia, Rectal prolapse, Microdontia, Joint laxity, Increased bone mineral density, Abnormal ... ORPHA:904
Femoral-Facial Syndrome
Thin upper lip vermilion, Limited elbow movement, Underdeveloped nasal alae, Humeroradial synosto... OMIM:134780
Williams-Beuren Syndrome
Colonic diverticula, Osteopenia, Joint laxity, Depressed nasal bridge, Anteverted nares, Failure ... OMIM:194050
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Flexion contracture, Macroglossia, Thick vermilion border, Short nose ORPHA:505248
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nose, Microcephaly, Wide nas... OMIM:619522
Acromesomelic Dysplasia 1
Joint laxity, Short nose, Limited elbow extension OMIM:602875
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Depressed nasal bridge, Anteverted nares, Intestinal malrotatio... OMIM:312870
Peters Plus Syndrome
Intestinal fistula, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerat... ORPHA:709
Pallister-Hall Syndrome
Natal tooth, Anteverted nares, Choanal atresia, Accessory oral frenulum, Large for gestational ag... ORPHA:672
Pallister-Killian Syndrome
Tented upper lip vermilion, Flexion contracture, Anteriorly placed anus, Camptodactyly of 2nd-5th... OMIM:601803
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Narrow nasal ridge, Narrow mouth, Short nose, Failure to thrive OMIM:606721
Penile Agenesis
Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Short nose, Anal atresia ORPHA:49

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 Ddx10

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 Ddx10.

No publications found that use IMPC mice or data for Ddx10.

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MGI Allele Allele Type Produced
Ddx10em1(IMPC)Bay Exon Deletion Mice

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