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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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