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Gene: Pak1ip1 MGI:1915333

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Gene Summary

Name:
PAK1 interacting protein 1
Synonyms:
PIP1,  5830431I15Rik,  Gdpd1,  5930415H02Rik,  p21-activated protein kinase-interacting protein 1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Pak1ip1em1(IMPC)Tcp HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Pak1ip1em1(IMPC)Tcp HOM   E15.5 0.00
embryonic lethality prior to organogenesis Pak1ip1em1(IMPC)Tcp HOM   E9.5 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

78 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

16 Images

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Human diseases caused by Pak1ip1 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 Pak1ip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oculomaxillofacial Dysostosis
Median cleft lip, Short stature, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality ... ORPHA:1794
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Cleft upper lip, Micrognathia, Facial cleft, Cleft palate, Small thenar eminence... OMIM:239800
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... ORPHA:952
Acrofacial Dysostosis, Catania Type
Microretrognathia, Short stature, Abnormality of the dentition, Carious teeth, Facial cleft, Abno... ORPHA:1786
Frontofacionasal Dysplasia
Depressed nasal bridge, Short stature, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... ORPHA:1791
Anophthalmia Plus Syndrome
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Facial cleft, Cleft palate, Bi... ORPHA:1104
Supernumerary Nostril
Abnormality of ethmoid sinus, Supernumerary naris, Facial cleft, Choanal atresia ORPHA:141096
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Frontonasal Dysplasia 3
Facial cleft, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae OMIM:613456
Cerebrooculonasal Syndrome
Facial cleft, Widely spaced teeth, High palate, Solitary median maxillary central incisor, Long p... ORPHA:66625
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Choanal atresia, Cleft upper lip, High, narrow palate, Depressed nasal ridge, Facial cleft, Cleft... OMIM:607597
Mosaic Trisomy 9
Ventriculomegaly, Camptodactyly of finger, Intestinal malrotation, Micrognathia, Polyhydramnios, ... ORPHA:99776
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Facial cleft, Orofacial cleft, ... ORPHA:1647
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... OMIM:613451
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Facial cleft, Cleft upper lip, Bilateral cleft lip OMIM:601357
Fryns Microphthalmia Syndrome
Facial cleft, Bilateral cleft lip and palate OMIM:600776
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Branchial fistula, Abnormal d... ORPHA:861
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na... ORPHA:1248
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Facial cleft, Tracheoesophageal fis... ORPHA:268249
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognat... OMIM:619941
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Frontonasal Dysplasia 1
Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Hypoplastic fronta... OMIM:136760
Acromelic Frontonasal Dysostosis
Broad nasal tip, Bifid nasal tip, Cleft upper lip, Midline facial cleft, Wide nasal bridge, Cleft... OMIM:603671
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge... ORPHA:261295
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... ORPHA:306542
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid nasal tip, Carious t... OMIM:620107
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Lowry-Maclean Syndrome
Choanal atresia, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, Micrognathia... ORPHA:2409
3Mc Syndrome 3
Short stature, Diastasis recti, Cleft upper lip, Facial cleft, Cleft palate, Growth delay OMIM:248340
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Increased nuchal translucency, Pierre-Robin sequence... OMIM:620183
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Prominent nose, Bulbous nose, Retrognathia, Depressed nasal tip, Lateral ventr... ORPHA:293725
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Bartsocas-Papas Syndrome 1
Anal stenosis, Underdeveloped nasal alae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathi... OMIM:263650
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal bridge, Midline notch of upper alveola... OMIM:617127
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Broad nasal tip, Hypoplasia of the pons, Micrognathia, Hydrocephalus, Hypo... OMIM:620157
Unilateral Ocular Duplication
Polyhydramnios, Midline facial cleft, Median cleft lip, Cleft palate ORPHA:3374
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short stature, Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss o... OMIM:156510
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Camptodactyly OMIM:246560
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... ORPHA:1529
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Anteverted nares, Short stature, Depressed nasal bridge, Cleft soft pal... OMIM:616331
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Chiari malformation, Aplasia/Hypoplasi... ORPHA:93262
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Short stature, Cleft soft palate, Broad nasal tip, Abnormality of the dentition... OMIM:618529
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge OMIM:618302
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition, Short stature, Broad nasal tip ORPHA:2776
Aarskog-Scott Syndrome
Delayed eruption of teeth, Anteverted nares, Short stature, Camptodactyly of finger, Cleft upper ... ORPHA:915
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Camptodactyly of finger, Lip pit, Facial cleft, Hypodontia, Abnormal palat... ORPHA:1236
Fraser Syndrome 1
Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Depressed nasal bridge, Dental cr... OMIM:219000
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Multiple Epiphyseal Dysplasia, Lowry Type
Rhizomelia, Short stature, Broad nasal tip, Cleft hard palate, Micrognathia, Knee flexion contrac... ORPHA:166016
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Prominent nasal bridge, Camptodactyly of finger, Hypoplasia of the maxilla, High p... ORPHA:85279
Recon Progeroid Syndrome
Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Short stature, Narrow na... OMIM:620370
Coffin-Siris Syndrome 11
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... OMIM:618779
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Narrow palate, Chiari malformation, Ce... ORPHA:207
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Ventriculomegaly, Hypoplasia of the maxilla, Flexion contracture, Wide n... OMIM:218000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Ventriculomegaly, Depressed nasal bridge, Cleft upper lip, Micrognathia, Esophageal at... ORPHA:93271
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, High palate, Widely spaced teeth, Aplasia/Hyp... ORPHA:192
Mohr Syndrome
Median cleft lip, Depressed nasal bridge, Short stature, Accessory oral frenulum, Broad nasal tip... OMIM:252100
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Lujan-Fryns Syndrome
Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Abnormality of the dentition, M... ORPHA:776
Cohen Syndrome
Facial hypotonia, Prominent nasal bridge, Short stature, Micrognathia, Hypoplasia of the maxilla,... OMIM:216550
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Narrow ... ORPHA:2412
Joubert Syndrome 18
Agenesis of cerebellar vermis, Cleft palate, Lobulated tongue, Camptodactyly, Molar tooth sign on... OMIM:614815
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Conical tooth, Cleft upper lip,... OMIM:129400
Pfeiffer Syndrome
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th... OMIM:101600
Neu-Laxova Syndrome
Skeletal muscle atrophy, Polyhydramnios, Micrognathia, Flexion contracture, Depressed nasal ridge... ORPHA:2671
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Distal Xq28 Microduplication Syndrome
Short stature, Epistaxis, Short lingual frenulum, Broad nasal tip, Dental crowding, Hypoplasia of... ORPHA:293939
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose, Short philtrum ORPHA:93945
Hydrolethalus
Polyhydramnios, Micrognathia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Abnormali... ORPHA:2189
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge OMIM:300676
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum ORPHA:90653
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur... OMIM:608670
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnorma... ORPHA:3201
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Short stature, Camptodactyly of finger, Micrognathia, Submucous cleft hard... OMIM:114300
Dental Anomalies And Short Stature
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth... OMIM:601216
Keipert Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Short stature, Prominent nasal bridge, Exagge... ORPHA:2662
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced... OMIM:618737
Marshall Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Abnormality of the dentition, Micrognath... ORPHA:560
Pycnodysostosis
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Prominent nose, Persiste... ORPHA:763
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Short stature, Supernumerary tooth, Submucous cleft hard palate, Thick lo... OMIM:617412
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Cleft soft palate, Micrognathia, Ventriculomegaly, Limb hypertonia ORPHA:99742
Hydrolethalus Syndrome 2
Micrognathia, Hydrocephalus, Cleft palate, Molar tooth sign on MRI, Ventriculomegaly OMIM:614120
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Intestinal malrotation, Abnormality of the den... ORPHA:2712
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Short stature, Congenital diaphragmatic hernia, Broad nasal tip, Underdev... ORPHA:250999
Pde4D Haploinsufficiency Syndrome
Prominent nasal tip, Thin upper lip vermilion, Mandibular prognathia, Depressed nasal bridge, Abn... ORPHA:439822
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Anal atresia ORPHA:93950
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Carious teeth, Hypop... ORPHA:50814
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypopl... ORPHA:87
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short stature, Intestinal malrotatio... OMIM:614701
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cleft palate... ORPHA:1307
Dysostosis, Stanescu Type
Narrow nasal bridge, Short stature, Abnormal dental enamel morphology, Abnormality of the dentiti... ORPHA:1798
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Abnormal so... ORPHA:884
Acrodysostosis
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Short stature, Depressed nasa... ORPHA:950
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Ma... ORPHA:79113
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft... ORPHA:178303
Loeys-Dietz Syndrome 5
Scapular winging, Decreased muscle mass, Short stature, Prominent nasal bridge, Cleft soft palate... OMIM:615582
Desmosterolosis
Severe short stature, Depressed nasal bridge, Intestinal malrotation, Abnormality of the nose, Mi... ORPHA:35107
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Flexion contr... ORPHA:481152
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Short stature, Dental crowding, Underdeveloped nasal alae, Long nose, ... OMIM:257850
Schilbach-Rott Syndrome
Short stature, Prominent nose, Long nose, Micrognathia, Submucous cleft hard palate, Narrow mouth... OMIM:164220
Constricting Bands, Congenital
Facial cleft, Cleft palate, Cleft upper lip OMIM:217100
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
3Mc Syndrome 2
Torticollis, Prominence of the premaxilla, Diastasis recti, Hypoplasia of the musculature, Partia... OMIM:265050
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat... OMIM:309520
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Thin upper lip vermilion, Mandibular prognathia, Facial hypotonia, ... OMIM:300534
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Scapular winging, Short stature, Dental crowding, Persistence of primar... OMIM:170390
Holoprosencephaly 1
Short stature, Proboscis, Facial cleft, Aplasia of the nose, Cerebellar hypoplasia, Median cleft ... OMIM:236100
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Smooth philtrum OMIM:614526
Atelosteogenesis, Type Iii
Depressed nasal bridge, Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar ... OMIM:108721
Mucopolysaccharidosis, Type Ix
Depressed nasal bridge, Submucous cleft hard palate, Short stature, Bifid uvula OMIM:601492
Intellectual Developmental Disorder, Autosomal Dominant 58
Facial hypotonia, Short stature, Dental crowding, Broad nasal tip, Protruding tongue, Submucous c... OMIM:618106
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Anteverted nares, High, narrow palate, Hydrocephalus, Submucous cleft h... OMIM:612863
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Short stature, Micrognathia, Bi... ORPHA:314679
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Severe short stature, Facial palsy, Micrognathia, High, narrow palate,... ORPHA:2780
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening OMIM:241310
Nager Syndrome
Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft ... ORPHA:245
Rhizomelic Chondrodysplasia Punctata, Type 2
Depressed nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Disproportionate short statur... OMIM:222765
Microcephaly-Capillary Malformation Syndrome
Wide nose, Short stature, Hypoplasia of the maxilla, Cleft palate, Short nose, Right ventricular ... OMIM:614261
Axenfeld-Rieger Syndrome
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Growth delay... ORPHA:782
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Short stature, Abnormality of the dentition, Abnormality of canine, Mic... ORPHA:363417
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge... OMIM:601499
Joubert Syndrome 14
Tented upper lip vermilion, Cerebellar vermis hypoplasia, Prominent nasal bridge, Agenesis of cer... OMIM:614424
Aarskog-Scott Syndrome
Anteverted nares, Short stature, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, C... OMIM:305400
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb muscle weakness OMIM:300266
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, Absent extraocular mus... OMIM:109120
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Short stature, Cleft soft palate, Micrognathia, Wide nasal bridge, Submucous cl... ORPHA:2282
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... ORPHA:2753
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... OMIM:619950
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology ORPHA:1540
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature, Trismus, Submucous cleft hard palate OMIM:609166
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature OMIM:608154
Native American Myopathy
Skeletal muscle atrophy, Short stature, Submucous cleft soft palate, Micrognathia, Abnormality of... ORPHA:168572
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Mild postnatal growth retarda... OMIM:101800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Submucous cleft ... OMIM:619103
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Narrow nose, Microg... OMIM:601812
Cohen Syndrome
Short stature, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality... ORPHA:193
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Unilateral cleft palate, Flat nasal alae, Bilateral cle... OMIM:610828
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum, Over... OMIM:619142
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Polyhydramnios, Micrognathia, Postnatal growth retardation, Cle... OMIM:117650
Martsolf Syndrome 1
Enlarged sylvian cistern, Depressed nasal bridge, Short stature, Broad nasal tip, Micrognathia, H... OMIM:212720
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Severe short stature, Hypoplasia of the maxilla... ORPHA:2588
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Abnormal m... ORPHA:444072
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Walker-Warburg Syndrome
Skeletal muscle atrophy, Ventriculomegaly, Hydrocephalus, Submucous cleft hard palate, Cleft pala... ORPHA:899
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal b... OMIM:106260
W Syndrome
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... ORPHA:2804
Spondylometaphyseal Dysplasia, Schmidt Type
Severe short stature, Cleft soft palate, Polyhydramnios, Micrognathia, Disproportionate short-tru... ORPHA:93316
Meier-Gorlin Syndrome 5
Short stature, Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Birth length... OMIM:613805
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Postnatal growth retardat... ORPHA:251061
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Cleft soft palate, Intestinal malrotation, Hydrocephalus, Flexion contracture, Dow... OMIM:619321
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Short stature, Dental crowding, Persistenc... ORPHA:37553
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, ... ORPHA:2756
Kagami-Ogata Syndrome
Depressed nasal bridge, Anteverted nares, Diastasis recti, Micrognathia, Hypoplasia of the maxill... OMIM:608149
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Micrognathia, Unilateral alveo... ORPHA:2751
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Short stature, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Trach... OMIM:619227
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft l... OMIM:619122
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Prominent nose, Hydrocephalus, Wide nasal bridge, Gr... OMIM:614886
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Denta... OMIM:300990
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Hydrocephalus, Cleft palate, Molar tooth sign on MRI, Intrauterine... OMIM:611134
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Congenital diaphragmatic hernia, Micrognathia OMIM:166300
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul... OMIM:211380
Cree Mental Retardation Syndrome
Webbed neck, Cleft soft palate, Micrognathia OMIM:606851
Stickler Syndrome, Type I
Depressed nasal bridge, Anteverted nares, Micrognathia, Submucous cleft hard palate, Pierre-Robin... OMIM:108300
Marden-Walker Syndrome
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Micrognathia, Pyloric ste... ORPHA:2461
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate, De... OMIM:123500
Holoprosencephaly 9
Depressed nasal bridge, Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia ... OMIM:610829
Barber-Say Syndrome
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Underdeveloped nas... OMIM:209885
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... OMIM:612292
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,... OMIM:608156
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... ORPHA:1071
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Exaggerated cup... OMIM:619306
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... OMIM:601390
Cardiofaciocutaneous Syndrome 1
Anteverted nares, Short stature, Depressed nasal bridge, Abnormality of the dentition, Open bite,... OMIM:115150
Zttk Syndrome
Depressed nasal bridge, Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, F... OMIM:617140
Meier-Gorlin Syndrome 4
Short stature, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Birth length l... OMIM:613804
Van Den Ende-Gupta Syndrome
Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Micrognathia, High, narrow pa... OMIM:600920
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Long phil... ORPHA:228396
Marshall-Smith Syndrome
Irregular dentition, Anteriorly placed anus, Glossoptosis, Choanal stenosis, High palate, Short p... OMIM:602535
Acrofacial Dysostosis, Cincinnati Type
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognath... OMIM:616462
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Anteriorly placed anus, Abnormal midbrain morphology ORPHA:280195
Carpenter Syndrome 1
Depressed nasal bridge, Short stature, Persistence of primary teeth, Micrognathia, Hypoplasia of ... OMIM:201000
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short stature, Prominent nasal bridge, Cleft soft palate, Underdeveloped nasal alae, Broad nasal ... ORPHA:268261
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Congenital diaphragmatic hernia, Hamartoma ... OMIM:616546
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Prominent nose, Cleft lip, Hypop... OMIM:616300
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasa... OMIM:609460
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... ORPHA:238468
Ear-Patella-Short Stature Syndrome
Severe short stature, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High, nar... ORPHA:2554
Dubowitz Syndrome
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Broad nasal tip, Postnatal grow... OMIM:223370
Duplication Of The Pituitary Gland
Short stature, Abnormal midbrain morphology, Polyhydramnios, Supernumerary tooth, Abnormality of ... ORPHA:314621
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Anteverted nares, Camptodactyly of finger, Micrognathia, Hypoplasia ... ORPHA:2462
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Osteoglophonic Dysplasia
Delayed eruption of teeth, Mandibular prognathia, Severe short stature, Anteverted nares, Rhizome... OMIM:166250
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia... OMIM:615546
Branchioskeletogenital Syndrome
Mandibular prognathia, Depressed nasal bridge, Broad nasal tip, Abnormality of the dentition, Car... ORPHA:1299
Brachytelephalangic Chondrodysplasia Punctata
Proportionate short stature, Broad nasal tip, Postnatal growth retardation, Hypoplasia of the max... ORPHA:79345
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Dental crowding, Malar flattening, Prominent nose, High, narrow palate, Narr... OMIM:300967
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Depressed nasal bridge, Broad nasal tip, Submucous cleft h... OMIM:619680
Cleft Soft Palate
Cleft soft palate OMIM:119570
Slc35A2-Cdg
Cerebellar atrophy, Limb joint contracture, Camptodactyly of finger, Abnormal midbrain morphology... ORPHA:356961
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Anteverted nares, Short stature, Dental crowding, Broad nasal tip, Hypopla... OMIM:617402
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard... ORPHA:457279
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Short stature, Polyhydramnios, Cleft upper lip, Postnatal growth ret... OMIM:213980
Shprintzen-Goldberg Craniosynostosis Syndrome
Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Dental malocclusion, Na... OMIM:182212
Saethre-Chotzen Syndrome
Depressed nasal bridge, Short stature, Prominent nasal bridge, Open bite, Hypoplasia of the maxil... ORPHA:794
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... OMIM:105830
Diamond-Blackfan Anemia
Depressed nasal bridge, Short stature, Cleft soft palate, Micrognathia, Nonimmune hydrops fetalis... ORPHA:124
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge OMIM:167730
Frontorhiny
Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Mi... ORPHA:391474
Velocardiofacial Syndrome
Short stature, Underdeveloped nasal alae, Bulbous nose, Submucous cleft hard palate, Velopharynge... OMIM:192430
Restrictive Dermopathy 1
Natal tooth, Depressed nasal bridge, Limb joint contracture, Narrow nasal ridge, Choanal atresia,... OMIM:275210
Aicardi Syndrome
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Hiatus hernia, Post... OMIM:304050
Cardiofaciocutaneous Syndrome
Anteverted nares, Short stature, Depressed nasal bridge, Lymphedema, Hydrocephalus, Submucous cle... ORPHA:1340
Multicentric Osteolysis, Nodulosis, And Arthropathy
Narrow nasal bridge, Hip contracture, Delayed eruption of teeth, Short stature, Interphalangeal j... OMIM:259600
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Absent nares, Hyposmia, Failure... ORPHA:2250
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Short stature, Flexion contracture, Submucous cleft hard palate, Generalized ... OMIM:618891
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Broad nasal tip, Deep philtrum, Submucous cleft hard p... OMIM:619194
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... ORPHA:3044
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Short stature, Prominent nasal bridge, Hypoplasi... OMIM:139210
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... OMIM:305100
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615108
Holoprosencephaly 4
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med... OMIM:142946
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Short stature, Macrodontia, Cleft upper lip, Micrognathia, Hypoplasia of ... ORPHA:1106
Stickler Syndrome
Skeletal muscle atrophy, Anteverted nares, Short stature, Depressed nasal bridge, Abnormal dental... ORPHA:828
Cowden Syndrome 1
Colonic diverticula, Dysplastic gangliocytoma of the cerebellum, Micrognathia, Hypoplasia of the ... OMIM:158350
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Depressed nasal bridge, Short stature, Malabsorption, P... ORPHA:235
Gorlin-Chaudhry-Moss Syndrome
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Aplasia/Hypo... ORPHA:2095
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Malabsorption, Cleft upper lip... ORPHA:50
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Flexion contracture, Cleft palate, Birth l... OMIM:224690
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula OMIM:619314
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Depressed nasal bridge, Short lingual frenulum, Flexion contracture, Wide nasal bridge, Lateral v... OMIM:619479
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615109
Treacher Collins Syndrome 1
Choanal atresia, Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid glan... OMIM:154500
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Severe short stature, Choanal atresia, Facial palsy, Abnormal dental ename... ORPHA:2658
Meier-Gorlin Syndrome 3
Microretrognathia, Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla... OMIM:613803
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Bilateral cleft lip ... ORPHA:2003
Double Outlet Right Ventricle
Depressed nasal bridge, Short stature, Intestinal malrotation, Submucous cleft hard palate, Cleft... ORPHA:3426
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Fetal ascites, Prominent nose, Micrognathia, Deep philtru... OMIM:619503
Limb-Mammary Syndrome
Psoriasiform dermatitis, Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft ... ORPHA:69085
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Holoprosencephaly-Postaxial Polydactyly Syndrome
Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Polyhydramnios, Hydrocephalus... ORPHA:2166
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Camptodactyly of finger, Polyhydramnios, Prominent nose, Long nose, Microgn... ORPHA:3047
Meckel Syndrome, Type 1
Micrognathia, Lobulated tongue, Molar tooth sign on MRI, Dandy-Walker malformation, Cleft upper l... OMIM:249000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Smooth philtrum, Depressed nasal bridge, Proportionate short stature, Submucous cleft soft palate... ORPHA:500150
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nas... ORPHA:2399
Ablepharon Macrostomia Syndrome
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped nasal alae, Hyp... ORPHA:920
Rubinstein-Taybi Syndrome 1
Dental crowding, Polyhydramnios, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of... OMIM:180849
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognath... OMIM:614437
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Colpocephaly, Aplasia ... OMIM:301043
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Na... OMIM:277600
Greenberg Dysplasia
Rhizomelia, Depressed nasal bridge, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Noni... OMIM:215140
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Choanal atresia, Selective tooth agenes... OMIM:129900
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Depressed nasal bridge, Short statur... OMIM:614188
Wiedemann-Rautenstrauch Syndrome
Downturned corners of mouth, Chiari type I malformation, Short philtrum, Premature loss of teeth,... ORPHA:3455
Coffin-Siris Syndrome 12
Anteverted nares, Prominent nasal bridge, Short stature, Facial palsy, Depressed nasal bridge, Un... OMIM:619325
Geroderma Osteodysplasticum
Mandibular prognathia, Severe short stature, Hypoplasia of the maxilla, Periodontitis, Camptodact... OMIM:231070
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Cleft soft palate, Polyhydramnios, Myopathy, Type 1 muscle fiber predomi... OMIM:614557
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Bulbou... ORPHA:434179
Dyskeratosis Congenita
Esophageal stenosis, Short stature, Malabsorption, Abnormality of the dentition, Carious teeth, H... ORPHA:1775
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Polyhydramnios, Micrognathia, Hypoplasia of th... ORPHA:96334
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Short stature, Proportionate short stature, Hypoplasia of the maxilla, El... OMIM:608328
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Broad nasal tip, Bifid nasal ti... OMIM:300166
Peters-Plus Syndrome
Short lingual frenulum, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Webbed neck, Ant... OMIM:261540
Campomelic Dysplasia
Irregular dentition, Depressed nasal bridge, Polyhydramnios, Micrognathia, Carious teeth, Contrac... OMIM:114290
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... OMIM:157170
Tolchin-Le Caignec Syndrome
Diastasis recti, Prominent nose, Micrognathia, Submucous cleft hard palate, Wide nasal bridge, Hi... OMIM:618971
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia involving the nose, Multiple joint contractures, Camptodactyly of... ORPHA:1662
Viss Syndrome
Chronic gastritis, Polyhydramnios, Micrognathia, High, narrow palate, High palate, Broad uvula, B... OMIM:619472
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Anal stenosis, Absence of Stensen duct, Choanal atresia, Selecti... OMIM:604292
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ... ORPHA:261537
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Short statur... ORPHA:2673
Mowat-Wilson Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ... ORPHA:2152
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Severe short stature, Prominent nose, Long nose, Micrognathia, Bulbous nose, Submucous cleft hard... ORPHA:2636
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the musculature, Hypoplasia of the ... ORPHA:1101
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Upper limb muscle weakness, ... ORPHA:206448
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Short stature, Bifid uvula OMIM:617660
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ... ORPHA:261552
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormality of taste sensation, Abnormal medulla oblongata morphology, Sinus... ORPHA:68
Hardikar Syndrome
Short stature, Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilat... OMIM:301068
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Short stature, Anteverted nares, Depressed nasal bridge... OMIM:259050
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Distal Deletion 19P
Hypoplasia of the maxilla, Short philtrum, Cleft palate ORPHA:96129
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Hydro... OMIM:164210
Saethre-Chotzen Syndrome
Short stature, Long nose, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, ... OMIM:101400
Japanese Encephalitis
Skeletal muscle atrophy, Abnormal substantia nigra morphology, Facial palsy, Abnormal midbrain mo... ORPHA:79139
Mowat-Wilson Syndrome
Delayed eruption of teeth, Short stature, Aganglionic megacolon, Pyloric stenosis, Generalized mu... OMIM:235730
Floating-Harbor Syndrome
Narrow nasal bridge, Short stature, Broad nasal tip, Long nose, Persistence of primary teeth, Cel... ORPHA:2044
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti... OMIM:180500
Chromosome 1P36 Deletion Syndrome, Distal
Depressed nasal bridge, Camptodactyly of finger, Cleft upper lip, Hydrocephalus, Submucous cleft ... OMIM:607872
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Short stature, Carious teeth, Hypoplasia of the maxilla, Eruption failu... OMIM:182250
Neuroocular Syndrome
Scapular winging, Short stature, Short uvula, Submucous cleft hard palate, Downturned corners of ... OMIM:619539
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Anteverted nares, Short stature, Abnormal midbrain morphology, Depressed nasal bridge, Celiac dis... ORPHA:293987
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Disproportionate short-trunk short stature OMIM:300106

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 Pak1ip1

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 Pak1ip1.

No publications found that use IMPC mice or data for Pak1ip1.

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MGI Allele Allele Type Produced
Pak1ip1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pak1ip1em1(IMPC)Tcp Exon Deletion Mice
Pak1ip1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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