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Gene: Cdk2ap1 MGI:1202069

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cyclin dependent kinase 2 associated protein 1
Synonyms:
Doc1,  DORC1,  p12,  ST19

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cdk2ap1 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 Cdk2ap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alar Cleft, Isolated
Cleft ala nasi OMIM:614687
Rhiny
Short nose, Anteverted nares OMIM:180360
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge ORPHA:1200
Maxillonasal Dysplasia, Binder Type
Short nose, Depressed nasal bridge, Short columella OMIM:155050
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Depressed nasal ridge ORPHA:1355
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares ORPHA:2015
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares ORPHA:1450
Pterygium Colli, Isolated
Short nose OMIM:177990
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
17Q21.31 Microduplication Syndrome
Anteverted nares, Short nose ORPHA:217340
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Non-Distal Duplication 10Q
Convex nasal ridge, Short nose, Depressed nasal bridge ORPHA:1695
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Depressed nasal ridge, Depressed nasal bridge, Short col... ORPHA:1248
Lethal Osteosclerotic Bone Dysplasia
Short nose, Anteverted nares, Depressed nasal ridge ORPHA:1832
Fg Syndrome 5
Short nose, Anteverted nares, Depressed nasal bridge OMIM:300581
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge ORPHA:1529
Nasal Bones, Absence Of
Narrow naris, Short columella OMIM:161480
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Depressed nasal bridge, Anosmia, Short nasal septum OMIM:302950
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge OMIM:618379
Weiss-Kruszka Syndrome
Short nose, Prominent nasal tip ORPHA:502430
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip OMIM:137550
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Acrocephalopolydactyly
Short nose, Depressed nasal ridge ORPHA:221054
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Wide nasal bridge OMIM:611936
14Q11.2 Microdeletion Syndrome
Short nose, Depressed nasal bridge ORPHA:261120
17P13.3 Microduplication Syndrome
Short nose, Wide nose ORPHA:217385
Miller-Dieker Syndrome
Short nose, Anteverted nares ORPHA:531
Acromicric Dysplasia
Anteverted nares, Short nose, Bulbous nose ORPHA:969
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose ORPHA:2370
Peho-Like Syndrome
Short nose OMIM:617507
Clark-Baraitser Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Low hanging columella OMIM:617752
Baker-Gordon Syndrome
Short nose, Prominent nasal tip OMIM:618218
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Craniodigital-Intellectual Disability Syndrome
Short nose, Narrow nasal bridge ORPHA:1514
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Short nose OMIM:618506
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose ORPHA:2598
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Short nose, Wide nasal bridge OMIM:618577
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Wide nose, Depressed nasal ridge ORPHA:2831
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Depressed nasal bridge OMIM:616910
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Short nose, Choanal atresia, Depressed nasal bridge ORPHA:1914
Trigonocephaly 1
Short nose, Wide nasal bridge OMIM:190440
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract infections OMIM:614069
Pierpont Syndrome
Short nose, Broad nasal tip, Wide nose OMIM:602342
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Broad nasal tip, Wide nasal bridge OMIM:615716
Glutamine Deficiency, Congenital
Short nose, Anteverted nares, Neonatal death, Wide nasal bridge, Depressed nasal bridge OMIM:610015
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Cebalid Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Depressed nasal ridge OMIM:618774
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Bilateral choanal atresia, Anteverted nares, Choanal atresia, Neonatal death, Choanal... OMIM:619859
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Prominent nasal bridge OMIM:300558
Perlman Syndrome
Anteverted nares, Short nose, Wide nasal bridge ORPHA:2849
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Short nose, Bulbous nose, Wide nasal bridge OMIM:620292
Teebi Hypertelorism Syndrome 2
Short nose, Broad nasal tip, Depressed nasal bridge OMIM:619736
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Prominent nasal bridge, Broad nasal tip OMIM:613544
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Short nose, Bulbous nose, Wide nasal bridge OMIM:613604
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose ORPHA:1495
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
Chung-Jansen Syndrome
Anteverted nares, Short nose OMIM:617991
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Anteverted nares, Short nose, Depressed nasal bridge OMIM:618961
Dermotrichic Syndrome
Short nose, Depressed nasal bridge ORPHA:99688
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose ORPHA:228384
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Craniofacial-Deafness-Hand Syndrome
Short nose, Narrow naris, Depressed nasal bridge OMIM:122880
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Short nose, Depressed nasal bridge OMIM:614744
Frontofacionasal Dysplasia
Short nose, Dimple on nasal tip, Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depress... ORPHA:1791
Distal Duplication 18Q
Anteverted nares, Short nose, Prominent nasal bridge, Choanal atresia ORPHA:1716
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Bulbous nose, Prominent nasal bridge OMIM:613870
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Short columella ORPHA:171839
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Bulbous nose, Prominent nasal bridge, Depressed nasal bridge OMIM:618828
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Short nose, Slender nose OMIM:615419
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:401935
Achondrogenesis
Anteverted nares, Short nose ORPHA:932
Even-Plus Syndrome
Short nose, Bifid nasal tip, Depressed nasal ridge OMIM:616854
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Depressed nasal bridge ORPHA:210548
Edinburgh Malformation Syndrome
Anteverted nares, Short nose, Choanal atresia ORPHA:1895
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Short nose, Wide nasal bridge OMIM:618437
Foxp1 Syndrome
Short nose, Broad nasal tip, Prominent nasolabial fold, Recurrent upper respiratory tract infections ORPHA:391372
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Depressed nasal bridge OMIM:614732
Intellectual Developmental Disorder, X-Linked 21
Short nose OMIM:300143
Achondrogenesis Type 1B
Anteverted nares, Short nose ORPHA:93298
Acrodysostosis 2 With Or Without Hormone Resistance
Anteverted nares, Short nose, Depressed nasal bridge OMIM:614613
Meckel Syndrome, Type 8
Short nose, Depressed nasal ridge OMIM:613885
Ohdo Syndrome
Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:249620
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Short nose OMIM:619356
Fibrochondrogenesis 2
Anteverted nares, Short nose OMIM:614524
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose ORPHA:2145
Achondrogenesis Type 1A
Anteverted nares, Short nose ORPHA:93299
Autosomal Dominant Omodysplasia
Short nose, Depressed nasal bridge ORPHA:93328
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Bulbous nose, Choanal atresia, Depressed nasal bridge ORPHA:284169
Congenital Disorder Of Glycosylation, Type Iu
Short nose OMIM:615042
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Anteverted nares, Short nose, Bulbous nose, Depressed nasal bridge OMIM:614105
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Short nose ORPHA:2701
Stickler Syndrome Type 1
Short nose ORPHA:90653
Tetrasomy 18P
Short nose ORPHA:3307
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Broad columella, Wide n... OMIM:619383
Fetal Trimethadione Syndrome
Short nose, Depressed nasal bridge ORPHA:1913
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge OMIM:614078
Codas Syndrome
Anteverted nares, Midline defect of the nose, Short nose, Depressed nasal bridge ORPHA:1458
Odontochondrodysplasia
Short nose, Depressed nasal bridge ORPHA:166272
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose ORPHA:2547
Al-Raqad Syndrome
Short nose OMIM:616459
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Short nose, Anteverted nares, Prominent nose, Wide nasal bridge, Depressed nasal bridge OMIM:618316
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose OMIM:300887
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
Verheij Syndrome
Anteverted nares, Short nose, Broad nasal tip, Wide nasal bridge OMIM:615583
Periventricular Nodular Heterotopia 7
Anteverted nares, Short nose OMIM:617201
Camptodactyly Syndrome, Guadalajara Type 1
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:1327
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Short nose, Bulbous nose OMIM:616420
Harel-Yoon Syndrome
Short nose OMIM:617183
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Bulbous nose, Wide nasal bridge, Depressed nasal bridge ORPHA:369891
Autosomal Recessive Omodysplasia
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:93329
Donnai-Barrow Syndrome
Short nose, Depressed nasal bridge ORPHA:2143
Pallister-Hall-Like Syndrome
Short nose, Depressed nasal bridge OMIM:241800
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Long nose, Short nose, Low hanging columella, Anteverted nares, Underdeveloped nasal alae, Depres... OMIM:615866
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Anteverted nares, Wide nose, Short nose, Depressed nasal bridge OMIM:613320
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae ORPHA:163961
Combined Oxidative Phosphorylation Deficiency 25
Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:616430
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Prominent nasal bridge, Underdeveloped nasal alae ORPHA:2083
Tetrasomy 12P
Anteverted nares, Short nose ORPHA:884
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Wide nasal bridge OMIM:218000
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Depressed nasal ridge OMIM:300863
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Short nose, Bulbous nose, Depressed nasal bridge OMIM:618430
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Anteverted nares, Short nose, Depressed nasal bridge OMIM:242860
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose ORPHA:1129
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Bulbous nose, Depressed nasal bridge ORPHA:261144
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anteverted nares, Short nose, Concave nasal ridge, Depressed nasal bridge OMIM:613038
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:163649
Prolidase Deficiency
Concave nasal ridge, Short nose, Depressed nasal bridge OMIM:170100
Baraitser-Winter Syndrome 1
Anteverted nares, Short nose, Wide nasal bridge OMIM:243310
16P11.2P12.2 Microdeletion Syndrome
Long nose, Short nose, Anteverted nares, Bulbous nose, Absent nasal bridge ORPHA:261211
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Anteverted nares, Short nose, Wide nose ORPHA:391408
Teebi Hypertelorism Syndrome 1
Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:145420
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose OMIM:615539
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Narrow nasal bridge ORPHA:544503
Pfeiffer Syndrome
Short nose, Choanal stenosis, Choanal atresia, Depressed nasal bridge OMIM:101600
Peho Syndrome
Short nose OMIM:260565
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short nose ORPHA:1185
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Bulbous nose, Wide nasal bridge, Depressed nasal bridge OMIM:617061
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Short nose, Broad nasal tip, Wide nasal bridge OMIM:618529
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Broad columella, Depressed nasal bridge OMIM:617865
Non-Distal Duplication 13Q
Short nose ORPHA:1702
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short nose, Underdeveloped nasal alae ORPHA:2031
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Short nose OMIM:601853
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Anteverted nares, Short nose, Wide nasal bridge OMIM:616897
Marshall-Smith Syndrome
Anteverted nares, Short nose, Choanal atresia ORPHA:561
Waardenburg Syndrome Type 1
Short nose, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Trisomy 12P
Short nose, Wide nasal bridge ORPHA:1699
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Depressed nasal bridge OMIM:617802
Mietens Syndrome
Short nose, Wide nasal bridge, Wide nose ORPHA:2557
Pontocerebellar Hypoplasia, Type 10
Short nose, Low hanging columella, Bulbous nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:615803
Microcephaly-Capillary Malformation Syndrome
Short nose, Wide nose OMIM:614261
Microform Holoprosencephaly
Short nose, Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis ORPHA:280200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Depressed nasal ridge ORPHA:163966
Smith-Magenis Syndrome
Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge ORPHA:819
Bainbridge-Ropers Syndrome
Short nose, Anteverted nares, Broad nasal tip, Choanal stenosis, Depressed nasal bridge, Prominen... OMIM:615485
Acrodysostosis
Short nose, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Depressed nasal bridge ORPHA:950
Pde4D Haploinsufficiency Syndrome
Prominent nose, Short nose, Prominent nasal tip, Depressed nasal bridge ORPHA:439822
Bartsocas-Papas Syndrome
Short nose, Underdeveloped nasal alae ORPHA:1234
Congenital Disorder Of Glycosylation, Type Il
Short nose, Depressed nasal bridge OMIM:608776
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose OMIM:618087
16P12.1P12.3 Triplication Syndrome
Short nose, Bulbous nose ORPHA:485405
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Prominent nasal bridge, Wide nasal bridge OMIM:619179
Fetal Hydantoin Syndrome
Short nose, Depressed nasal ridge ORPHA:1912
Smith-Kingsmore Syndrome
Short nose, Depressed nasal bridge OMIM:616638
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose ORPHA:2983
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose ORPHA:496790
Intellectual Disability-Strabismus Syndrome
Prominent nose, Narrow nasal ridge, Short nose, Depressed nasal bridge ORPHA:363528
Lowry-Maclean Syndrome
Convex nasal ridge, Short nose, Short nasal bridge, Choanal atresia ORPHA:2409
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short nose, Wide nasal bridge OMIM:620250
20Q11.2 Microduplication Syndrome
Short nose, Abnormal nasal bridge morphology, Anteverted nares, Wide nasal bridge, Depressed nasa... ORPHA:363659
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections ORPHA:3078
Ruvalcaba Syndrome
Convex nasal ridge, Short nose ORPHA:3121
Dend Syndrome
Short nose, Anteverted nares ORPHA:79134
Weiss-Kruszka Syndrome
Anteverted nares, Short nose OMIM:618619
Femoral-Facial Syndrome
Short nose ORPHA:1988
Antley-Bixler Syndrome
Anteverted nares, Short nose, Choanal atresia ORPHA:83
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:613026
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Anteverted nares, Short nose OMIM:617877
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short nose, Depressed nasal bridge OMIM:619833
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Short nose OMIM:613735
Pfeiffer Syndrome Type 1
Short nose, Depressed nasal bridge ORPHA:93258
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Desbuquois Dysplasia 1
Concave nasal ridge, Short nose, Depressed nasal bridge OMIM:251450
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Broad nasal tip, Wide nasal bridge OMIM:614749
Intellectual Developmental Disorder, X-Linked 98
Long nose, Short nose, Anteverted nares, Underdeveloped nasal alae, Prominent nasal bridge, Depre... OMIM:300912
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Bulbous nose, Wide nasal bridge OMIM:618571
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Short nose, Choanal stenosis ORPHA:1790
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:314655
Pontocerebellar Hypoplasia, Type 2E
Short nose, Wide nose OMIM:615851
Distal Deletion 9P
Short nose, Wide nasal bridge ORPHA:1642
Intellectual Developmental Disorder, Autosomal Dominant 1
Short nose, Depressed nasal ridge, Prominent nose, Bulbous nose, Short columella OMIM:156200
Fetal Alcohol Syndrome
Anteverted nares, Short nose ORPHA:1915
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Anteverted nares, Short nose, Depressed nasal bridge OMIM:615398
Toluene Embryopathy
Short nose ORPHA:1920
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Short nose, Choanal atresia OMIM:610536
Adenylosuccinase Deficiency
Anteverted nares, Short nose OMIM:103050
Microphthalmia With Limb Anomalies
Short nose, Flared nostrils, Depressed nasal bridge OMIM:206920
Macrocephaly/Autism Syndrome
Short nose, Depressed nasal bridge OMIM:605309
Cadds
Short nose ORPHA:369942
3C Syndrome
Short nose, Wide nasal bridge, Depressed nasal bridge ORPHA:7
Tetrasomy 5P
Anteverted nares, Short nose, Wide nasal bridge ORPHA:3309
Malan Syndrome
Short nose OMIM:614753
Aarskog-Scott Syndrome
Anteverted nares, Short nose, Wide nasal bridge OMIM:305400
Poikiloderma With Neutropenia
Short nose, Underdeveloped nasal alae, Recurrent sinusitis, Depressed nasal bridge OMIM:604173
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose ORPHA:79113
Marshall Syndrome
Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge ORPHA:560
Alkuraya-Kucinskas Syndrome
Anteverted nares, Short nose, Depressed nasal bridge OMIM:617822
Diaphanospondylodysostosis
Depressed nasal ridge, Short nose, Depressed nasal bridge OMIM:608022
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Micro Syndrome
Anteverted nares, Short nose, Wide nasal bridge ORPHA:2510
Arthrogryposis, Distal, Type 2A
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:193700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Broad nasal tip, Wide nasal bridge OMIM:614207
Brachytelephalangic Chondrodysplasia Punctata
Short nose, Thick nasal alae, Nasal congestion, Depressed nasal ridge, Broad nasal tip, Short col... ORPHA:79345
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Broad nasal tip, Wide nasal bridge OMIM:239300
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge OMIM:617988
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Underdeveloped nasal alae ORPHA:2315
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short nose, Prominent nasal bridge, Broad nasal tip, Wide nasal bridge OMIM:300749
Donnai-Barrow Syndrome
Short nose, Broad nasal tip, Depressed nasal bridge OMIM:222448
Opsismodysplasia
Short nose, Depressed nasal bridge ORPHA:2746
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Short nose OMIM:234050
Distal Deletion 10Q
Prominent nose, Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:96148
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Anteverted nares, Short nose, Wide nasal bridge OMIM:614701
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Short nose OMIM:219200
Schneckenbecken Dysplasia
Stillbirth, Short nose OMIM:269250
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Short nose, Depressed nasal bridge OMIM:618590
Fibrochondrogenesis 1
Stillbirth, Short nose, Anteverted nares, Depressed nasal bridge OMIM:228520
Achondrogenesis, Type Ia
Stillbirth, Short nose, Anteverted nares, Hypoplastic nasal bridge, Depressed nasal bridge OMIM:200600
Rhombencephalosynapsis
Anteverted nares, Short nose ORPHA:59315
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short nose, Prominent nasal bridge, Bulbous nose, Underdeveloped nasal alae, Short columella ORPHA:364577
Cenani-Lenz Syndrome
Convex nasal ridge, Short nose ORPHA:3258
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short nose, Anteverted nares, Prominent nasal bridge, Bulbous nose, Wide nasal bridge, Depressed ... OMIM:618454
Pfeiffer Syndrome Type 2
Short nose, Choanal atresia, Depressed nasal bridge ORPHA:93259
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Short nose, Narrow nose OMIM:617602
19P13.13 Microdeletion Syndrome
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:357001
8P23.1 Microdeletion Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:251071
C Syndrome
Anteverted nares, Short nose, Wide nasal bridge OMIM:211750
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Short nose, Low insertion of columella, Anteverted nares, Underdeveloped nasal alae, Depressed na... OMIM:619005
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose ORPHA:329178
Gaucher Disease, Perinatal Lethal
Anteverted nares, Short nose, Neonatal death, Depressed nasal bridge OMIM:608013
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Convex nasal ridge, Short nose, Prominent nasal bridge, Wide nose ORPHA:251028
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Short nose, Broad nasal tip, Prominent nasolabial fold ORPHA:357074
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteverted nares, Short nose, Depressed nasal bridge OMIM:217980
Otopalatodigital Syndrome, Type I
Short nose, Wide nasal bridge OMIM:311300
Pfeiffer Syndrome Type 3
Short nose, Choanal atresia, Depressed nasal bridge ORPHA:93260
Warburg Micro Syndrome 2
Short nose, Prominent nasal bridge OMIM:614225
Robinow Syndrome, Autosomal Dominant 2
Anteverted nares, Short nose, Depressed nasal bridge OMIM:616331
Peho Syndrome
Anteverted nares, Short nose ORPHA:2836
16P13.11 Microdeletion Syndrome
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:261236
Microlissencephaly-Micromelia Syndrome
Short nose ORPHA:50810
Distal Duplication 5Q
Short nose, Prominent nasal bridge ORPHA:96097
Warburg Micro Syndrome 3
Short nose OMIM:614222
Meier-Gorlin Syndrome 6
Short nose, Anteverted nares, Depressed nasal ridge, Depressed nasal bridge, Underdeveloped nasal... OMIM:616835
Premature Aging Syndrome, Penttinen Type
Short nose, Aplasia of the nasal bone, Prominent nasal bridge, Convex nasal ridge, Narrow nose OMIM:601812
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Depressed nasal bridge OMIM:616723
Oculodentodigital Dysplasia
Short nose, Low hanging columella, Narrow nasal bridge, Anteverted nares, Underdeveloped nasal al... OMIM:164200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Wide nasal bridge, Short columella OMIM:613603
Oculodentodigital Dysplasia
Abnormality of the nose, Short nose, Narrow nasal bridge, Anteverted nares, Broad columella, Unde... ORPHA:2710
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Short nose, Depressed nasal bridge ORPHA:1812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Short nose OMIM:608612
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short nose, Wide nasal bridge OMIM:618005
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Short nose ORPHA:96147
Mosaic Variegated Aneuploidy Syndrome 2
Short nose, Bulbous nose, Depressed nasal bridge OMIM:614114
Mosaic Variegated Aneuploidy Syndrome 1
Anteverted nares, Wide nose, Short nose, Depressed nasal bridge OMIM:257300
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Anteverted nares, Short nose OMIM:612394
Raine Syndrome
Short nose, Choanal atresia, Neonatal death, Choanal stenosis, Depressed nasal bridge OMIM:259775
Cerebrofaciothoracic Dysplasia
Short nose, Wide nose ORPHA:1394
Carey-Fineman-Ziter Syndrome
Anteverted nares, Short nose ORPHA:1358
Desmosterolosis
Abnormality of the nose, Short nose, Depressed nasal bridge ORPHA:35107
Lathosterolosis
Anteverted nares, Short nose, Prominent nasal tip OMIM:607330
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short nose, Underdeveloped nasal alae, Depressed nasal bridge OMIM:616007
Holoprosencephaly 7
Short nose, Midline defect of the nose, Hypoplastic nasal septum, Depressed nasal tip, Flat nasal... OMIM:610828
Opsismodysplasia
Anteverted nares, Short nose, Depressed nasal bridge OMIM:258480
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Long nose, Short nose, Anteverted nares, Bulbous nose, Depressed nasal bridge ORPHA:508533
Cardiofaciocutaneous Syndrome 1
Short nose, Anteverted nares, Bulbous nose, Depressed nasal bridge OMIM:115150
Acrofacial Dysostosis, Catania Type
Short nose ORPHA:1786
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:2719
Prader-Willi Syndrome Due To Translocation
Short nose, Underdeveloped nasolabial fold, Narrow nasal bridge, Anteverted nares, Broad nasal ti... ORPHA:177907
Trisomy 20P
Anteverted nares, Short nose ORPHA:261318
Baller-Gerold Syndrome
Short nose, Prominent nasal bridge, Narrow nasal bridge ORPHA:1225
Temtamy Preaxial Brachydactyly Syndrome
Short nose ORPHA:363417
Marshall Syndrome
Anteverted nares, Short nose, Depressed nasal bridge OMIM:154780
Desmosterolosis
Anteverted nares, Short nose, Hypoplastic nasal bridge OMIM:602398
Chromosome 14Q11-Q22 Deletion Syndrome
Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:613457
Nablus Mask-Like Facial Syndrome
Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:608156
3Q29 Microdeletion Syndrome
Short nose, Prominent nasal bridge ORPHA:65286
Coffin-Siris Syndrome
Short nose, Wide nasal base, Anteverted nares, Thick nasal alae, Broad nasal tip, Recurrent upper... ORPHA:1465
Kleefstra Syndrome
Anteverted nares, Short nose ORPHA:261494
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anteverted nares, Short nose, Depressed nasal bridge OMIM:614080
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose ORPHA:457279
Congenital Disorder Of Glycosylation, Type Iie
Short nose, Wide nose OMIM:608779
Lathosterolosis
Anteverted nares, Short nose, Bulbous nose ORPHA:46059
Frontofacionasal Dysplasia
Short nose, Midline defect of the nose, Bifid nose, Underdeveloped nasal alae OMIM:229400
Robinow Syndrome, Autosomal Dominant 3
Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:616894
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Anteverted nares, Short nose, Depressed nasal bridge OMIM:301040
Stuve-Wiedemann Syndrome 1
Short nose, Anteverted nares, Wide nasal base, Low hanging columella OMIM:601559
Phosphoribosylpyrophosphate Synthetase Superactivity
Convex nasal ridge, Short nose, Depressed nasal bridge OMIM:300661
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Short nose, Wide nasal bridge ORPHA:2282
Mandibuloacral Dysplasia With Type B Lipodystrophy
Convex nasal ridge, Short nose ORPHA:90154
Miller-Dieker Lissencephaly Syndrome
Anteverted nares, Short nose, Wide nasal bridge OMIM:247200
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Anteverted nares, Short nose, Bulbous nose, Depressed nasal bridge OMIM:271510
Atelosteogenesis, Type I
Stillbirth, Short nose, Neonatal death, Depressed nasal bridge OMIM:108720
Cardiofaciocutaneous Syndrome
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:1340
Musculocontractural Ehlers-Danlos Syndrome
Short nose, Prominent nasolabial fold ORPHA:2953
Bannayan-Riley-Ruvalcaba Syndrome
Anteverted nares, Short nose, Wide nose ORPHA:109
Cerebrooculonasal Syndrome
Anteverted nares, Short nose, Prominent nasal bridge, Proboscis OMIM:605627
Au-Kline Syndrome
Short nose, Bifid nasal tip, Wide nasal ridge, Prominent nasal bridge, Underdeveloped nasal alae OMIM:616580
Chops Syndrome
Anteverted nares, Short nose OMIM:616368
Kaufman Oculocerebrofacial Syndrome
Anteverted nares, Short nose, Depressed nasal bridge OMIM:244450
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Short nose, Wide nose, Anteverted nares, Recurrent sinusitis, Wide nasal bridge OMIM:213980
Pallister-Hall Syndrome
Short nose, Anteverted nares, Choanal atresia, Neonatal death, Depressed nasal bridge OMIM:146510
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short nose, Increased size of nasopharyngeal adenoids, Depressed nasal bridge ORPHA:457395
Trichothiodystrophy 1, Photosensitive
Short nose OMIM:601675
Marshall-Smith Syndrome
Short nose, Anteverted nares, Choanal atresia, Choanal stenosis, Recurrent upper respiratory trac... OMIM:602535
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose, Neonatal death OMIM:252160
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short nose ORPHA:476126
Congenital Myopathy 22B, Severe Fetal
Short nose, Wide nasal bridge OMIM:620369
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Short nose, Depressed nasal bridge OMIM:601353
Nicolaides-Baraitser Syndrome
Short nose, Wide nasal base, Narrow nasal bridge, Low hanging columella, Anteverted nares, Bulbou... OMIM:601358
Gapo Syndrome
Anteverted nares, Short nose, Depressed nasal bridge OMIM:230740
1P21.3 Microdeletion Syndrome
Short nose, Broad nasal tip ORPHA:293948
Osteoglophonic Dysplasia
Short nose, Anteverted nares, Nasal congestion, Choanal atresia, Depressed nasal bridge OMIM:166250
White-Kernohan Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Underdeveloped nasal alae OMIM:619426
Alg9-Cdg
Short nose, Low insertion of columella, Underdeveloped nasal alae, Convex nasal ridge, Depressed ... ORPHA:79328
Down Syndrome
Depressed nasal ridge, Short nose, Depressed nasal bridge ORPHA:870
Chromosome 16P13.3 Duplication Syndrome
Short nose, Wide nose, Anteverted nares, Bulbous nose, Wide nasal bridge, Depressed nasal bridge OMIM:613458
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Short nose ORPHA:3339
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Short nose OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Short nose ORPHA:521426
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Short nose, Prominent nasal bridge ORPHA:1974
Blomstrand Lethal Chondrodysplasia
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:50945
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Stillbirth, Short nose, Choanal atresia, Choanal stenosis, Bulbous nose, Depressed nasal bridge ORPHA:95699
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:536467
Ogden Syndrome
Short nose, Flared nostrils, Bifid nasal tip, Depressed nasal tip, Depressed nasal bridge, Wide n... OMIM:300855
Noonan Syndrome 3
Anteverted nares, Short nose, Hypoplastic nasal bridge OMIM:609942
Peroxisome Biogenesis Disorder 4B
Short nose OMIM:614863
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae OMIM:305100
Jacobsen Syndrome
Anteverted nares, Short nose, Depressed nasal bridge OMIM:147791
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Short nose, Prominent nasal bridge OMIM:227330
Autosomal Recessive Robinow Syndrome
Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge ORPHA:1507
Otopalatodigital Syndrome Type 2
Short nose, Depressed nasal bridge ORPHA:90652
Trisomy 18
Short nose, Choanal atresia ORPHA:3380
Schinzel-Giedion Midface Retraction Syndrome
Short nose, Anteverted nares, Choanal stenosis, Abnormal nasopharynx morphology, Depressed nasal ... OMIM:269150
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Short nose, Prominent nasal tip ORPHA:522077
Trisomy 10P
Abnormality of the nose, Anteverted nares, Short nose, Depressed nasal bridge ORPHA:171929
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short nose, Anteverted nares, Broad nasal tip, Narrow naris, Wide nasal bridge, Depressed nasal b... OMIM:617157
Monosomy 9P
Anteverted nares, Short nose, Choanal atresia, Depressed nasal bridge ORPHA:261112
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose OMIM:252150
Trisomy 8P
Anteverted nares, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract infections ORPHA:264450
Acrocephalopolydactylous Dysplasia
Short nose OMIM:200995
Wiedemann-Steiner Syndrome
Short nose, Wide nasal bridge ORPHA:319182
Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Anteverted nares, Depressed nasal bridge ORPHA:536471
Autosomal Dominant Robinow Syndrome
Short nose, Wide nose, Anteverted nares, Wide nasal bridge, Depressed nasal bridge ORPHA:3107
Arterial Tortuosity Syndrome
Short nose ORPHA:3342
Jacobsen Syndrome
Anteverted nares, Broad columella, Wide nasal bridge, Short nose ORPHA:2308
Robinow Syndrome
Short nose, Anteverted nares, Flared nostrils, Broad nasal tip, Depressed nasal bridge ORPHA:97360
Menke-Hennekam Syndrome 1
Short nose, Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Depressed nasal rid... OMIM:618332
Spondylocarpotarsal Synostosis Syndrome
Anteverted nares, Short nose, Broad nasal tip OMIM:272460
Geleophysic Dysplasia 1
Anteverted nares, Short nose, Wide nasal bridge OMIM:231050
Helsmoortel-Van Der Aa Syndrome
Short nose, Anteverted nares, Broad nasal tip, Wide nasal bridge OMIM:615873
Ring Chromosome 7 Syndrome
Short nose, Anteverted nares, Prominent nasal bridge, Narrow naris, Wide nasal bridge ORPHA:1449
Aymé-Gripp Syndrome
Short nose, Depressed nasal bridge ORPHA:1272
Ayme-Gripp Syndrome
Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:601088
Geleophysic Dysplasia 2
Short nose OMIM:614185
Robinow Syndrome, Autosomal Recessive 1
Short nose, Anteverted nares, Wide nasal bridge, Depressed nasal bridge OMIM:268310
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose ORPHA:505248
Deeah Syndrome
Short nose, Prominent nasal tip OMIM:619004
Coffin-Lowry Syndrome
Short nose, Wide nose, Anteverted nares, Thick nasal alae, Broad columella, Thick nasal septum OMIM:303600
Rothmund-Thomson Syndrome, Type 2
Short nose, Depressed nasal bridge OMIM:268400
Van Esch-O'Driscoll Syndrome
Short nose, Depressed nasal bridge OMIM:301030
Monosomy 9Q22.3
Short nose ORPHA:77301
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short nose, Anteverted nares ORPHA:280633
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Depressed nasal tip, Bulbous nose, Wide nasal bridge OMIM:619475
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short nose, Bulbous nose, Broad nasal tip, Depressed nasal bridge OMIM:309590
Khan-Khan-Katsanis Syndrome
Short nose OMIM:618460
Orofaciodigital Syndrome Type 4
Depressed nasal ridge, Short nose, Choanal atresia, Wide nose ORPHA:2753
Acrocallosal Syndrome
Short nose, Wide nasal bridge OMIM:200990
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Short nose, Choanal atresia, Narrow nose OMIM:301044
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short nose, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae ORPHA:268261
Bartsocas-Papas Syndrome 1
Short nose, Underdeveloped nasal alae OMIM:263650
Omodysplasia 1
Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:258315
Witteveen-Kolk Syndrome
Short nose, Wide nose, Anteverted nares, Flared nostrils, Depressed nasal bridge, Prominent nasal... OMIM:613406
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short nose, Wide nasal bridge OMIM:609945
Holoprosencephaly 9
Short nose, Single naris, Choanal atresia, Broad nasal tip, Depressed nasal bridge OMIM:610829
Zttk Syndrome
Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:617140
Specc1L-Related Hypertelorism Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:1519
Okamoto Syndrome
Short nose, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Depressed nasal bridge ORPHA:2729
Degcags Syndrome
Short nose, Anteverted nares, Rhinitis, Prominent nasal bridge, Prominent nose OMIM:619488
Phocomelia, Schinzel Type
Short nose ORPHA:2879
Simpson-Golabi-Behmel Syndrome
Anteverted nares, Short nose, Wide nasal bridge ORPHA:373
Cornelia De Lange Syndrome 6
Anteverted nares, Short nose OMIM:620568
Toriello-Carey Syndrome
Short nose ORPHA:3338
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short nose, Depressed nasal ridge, Depressed nasal bridge, Enlarged naris, Concave nasal ridge OMIM:271665
Ctcf-Related Neurodevelopmental Disorder
Anteverted nares, Short nose, Broad nasal tip, Short columella ORPHA:363611
Fontaine Progeroid Syndrome
Convex nasal ridge, Short nose, Neonatal death, Depressed nasal bridge OMIM:612289
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Short nose, Anteverted nares, Broad nasal tip, Bulbous nose, Wide nasal bridge OMIM:619522
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Anteverted nares, Short nose ORPHA:444077
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Short nose OMIM:618820
Schinzel-Giedion Syndrome
Short nose, Broad nasal tip, Choanal stenosis ORPHA:798
Robinow Syndrome, Autosomal Dominant 1
Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:180700
Sponastrime Dysplasia
Short nose, Wide nose, Anteverted nares, Aplasia of the nasal bone, Hypoplasia of the nasal bone,... ORPHA:93357
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Short nose, Short columella OMIM:601776
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Short nose, Prominent nasal tip, Broad nasal tip, Wide nasal bridge OMIM:620330
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Short nose OMIM:619321
Stickler Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Depressed nasal ridge ORPHA:828
C Syndrome
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:1308
Cornelia De Lange Syndrome
Short nose, Anteverted nares, Choanal atresia, Depressed nasal bridge ORPHA:199
Peters Plus Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Short columella ORPHA:709
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Prominent nose, Short nose, Prominent nasolabial fold, Depressed nasal bridge OMIM:619503
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Short nose, Wide nasal bridge, Depressed nasal bridge ORPHA:500150
Acrofacial Dysostosis, Cincinnati Type
Short nose, Bilateral choanal atresia, Anteverted nares, Choanal atresia, Depressed nasal bridge OMIM:616462
Lipodystrophy, Familial Partial, Type 7
Narrow nasal ridge, Short nose OMIM:606721
Pallister-Hall Syndrome
Short nose, Anteverted nares, Choanal atresia, Depressed nasal ridge, Recurrent upper and lower r... ORPHA:672
Penile Agenesis
Short nose, Depressed nasal bridge ORPHA:49
Williams Syndrome
Short nose, Wide nasal bridge ORPHA:904
Femoral-Facial Syndrome
Short nose, Underdeveloped nasal alae OMIM:134780
Simpson-Golabi-Behmel Syndrome, Type 1
Short nose, Anteverted nares, Wide nasal bridge, Depressed nasal bridge OMIM:312870
Aspartylglucosaminuria
Short nose, Wide nasal bridge ORPHA:93
Williams-Beuren Syndrome
Short nose, Anteverted nares, Broad nasal tip, Depressed nasal bridge OMIM:194050
Pallister-Killian Syndrome
Stillbirth, Short nose, Anteverted nares, Wide nasal bridge, Depressed nasal bridge OMIM:601803

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 Cdk2ap1

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 Cdk2ap1.

No publications found that use IMPC mice or data for Cdk2ap1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cdk2ap1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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