Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Pak1ip1em1(IMPC)Tcp HOM   E9.5 0.00
preweaning lethality, complete penetrance Pak1ip1em1(IMPC)Tcp HOM   Early adult 0.00
thrombocytosis Pak1ip1em1(IMPC)Tcp HET Early adult 4.91×10-05
prenatal lethality prior to heart atrial septation Pak1ip1em1(IMPC)Tcp HOM   E15.5 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

78 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

16 Images

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
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 3
Thrombocytosis OMIM:614521
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the nose, Wide nasal bridge, M... ORPHA:1794
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Broad nasal tip, Small thenar eminence, Cleft upper lip, Micrognathia, Microcephaly... OMIM:239800
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Acrofacial Dysostosis, Catania Type
Webbed neck, Abnormal palate morphology, Intrauterine growth retardation, Carious teeth, Microcep... ORPHA:1786
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Depressed nasal ridge, Non-midline cleft lip, Dimple on nasal ... ORPHA:1791
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate, Facial cleft OMIM:600251
Acrofacial Dysostosis, Weyers Type
Solitary median maxillary central incisor, Conical tooth, Abnormality of the dentition, Hypodonti... ORPHA:952
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Anophthalmia Plus Syndrome
Non-midline cleft lip, Choanal atresia, Bilateral cleft lip and palate, Abnormal nasal morphology... ORPHA:1104
Frontonasal Dysplasia 3
Wide nasal bridge, Cleft palate, Underdeveloped nasal alae, Facial cleft OMIM:613456
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Supernumerary Nostril
Abnormality of ethmoid sinus, Supernumerary naris, Facial cleft, Choanal atresia ORPHA:141096
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Facial cleft, Ventriculomegaly,... ORPHA:1647
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, Depressed nasal ridge, High, narrow palate, Choanal atresia, Cleft palate, Facia... OMIM:607597
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis OMIM:604416
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Mosaic Trisomy 9
High palate, Webbed neck, Intrauterine growth retardation, Bulbous nose, Intestinal malrotation, ... ORPHA:99776
Cerebrooculonasal Syndrome
High palate, Solitary median maxillary central incisor, Long philtrum, Microdontia, Widely spaced... ORPHA:66625
Temple Syndrome
High palate, Short philtrum, Bifid uvula, Flexion contracture, Intrauterine growth retardation, M... OMIM:616222
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Cleft lip, Wrist flexion contracture, Pursed lips, Short ... OMIM:619110
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Absent septum pellucidum, Cleft upper lip, Bilateral cleft lip and palate, Facial cleft OMIM:601357
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Facial cleft OMIM:600776
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia OMIM:209950
Orofacial Cleft 13
Cleft soft palate, Oligodontia, Micrognathia, Malar flattening, Retrognathia OMIM:613857
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Treacher-Collins Syndrome
Open bite, Micrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Cleft palate, Facial cle... ORPHA:861
Maxillonasal Dysplasia
Depressed nasal ridge, Open bite, Short columella, Microdontia, Hypoplasia of the maxilla, Depres... ORPHA:1248
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Thrombocyto... ORPHA:824
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Mycophenolate Mofetil Embryopathy
Agenesis of corpus callosum, Hydrops fetalis, Tracheoesophageal fistula, Micrognathia, Congenital... ORPHA:268249
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Short philtrum, Bifid uvula, Thin vermilion border, Intrauterine growth retardation, Bilateral cl... OMIM:618622
Short Rib-Polydactyly Syndrome
Intrauterine growth retardation, Intestinal malrotation, Abnormal cerebral morphology, Abnormal c... ORPHA:1505
Meckel Syndrome 12
Bifid uvula, Intrauterine growth retardation, Agenesis of corpus callosum, Oligohydramnios, Cereb... OMIM:616258
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Aplasia/Hypoplasia of the frontal sinuses, Agenesis of corpus callosum, Underdeveloped nasal alae... ORPHA:306542
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Bilateral ... OMIM:608572
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Micrognathia, Submucous cleft hard palate, Microcephaly, Retrognathia, Mandibular pr... ORPHA:2521
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Abnormality of the dentition, Cleft soft palate, Micrognathia, Short stature, Dent... OMIM:616331
Frontonasal Dysplasia 1
Broad nasal tip, Hypoplastic frontal sinuses, Median cleft palate, Agenesis of corpus callosum, W... OMIM:136760
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Anencephaly, Bifid nose, Median cleft lip OMIM:619452
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Bifid uvula, Intrauterine growth retardation, Temporomandibular joint ... ORPHA:2872
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Wide nasal bridge, Ventriculomegaly, Hypoplasia of the maxilla, Depr... ORPHA:261295
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Wide nasal bridge, Hypoplasia of the maxilla, Microcephaly, Hydrocephalus, Pe... OMIM:618302
Neu-Laxova Syndrome
Abnormal cortical gyration, Bifid uvula, Trismus, Cerebellar hypoplasia, Everted lower lip vermil... ORPHA:2671
Lowry-Maclean Syndrome
Hydrocephalus, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Convex... ORPHA:2409
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Bifid uvula, Long philtrum, Drooling, Abnormality of the dentition, Growth delay, Mi... ORPHA:576283
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Hemolytic anemia, Asplenia OMIM:614034
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis, Micrognathia, Retrognathia OMIM:615706
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency ORPHA:99772
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Progressive microcephaly, Bulbous nose, Subcortical band heterotopia, Hyp... OMIM:618737
Hydrolethalus
Bifid uvula, Agenesis of corpus callosum, Unilateral cleft lip, Anencephaly, Micrognathia, Submuc... ORPHA:2189
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, High, narrow palate, Micrognathia, Depressed nasal bridge, Ma... OMIM:604841
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Broad columella, Abnormal caudate nucleus morphology, Bulbous nose, Cleft soft pa... ORPHA:293725
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Narrow mouth, High palate, Short philtrum, Bifid uvula, Wide nose, Intrauterine growth retardatio... ORPHA:96184
3Mc Syndrome 3
Cleft upper lip, Diastasis recti, Growth delay, Short stature, Cleft palate, Facial cleft OMIM:248340
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Intrauterine growth retardation, Macroglossia, Microcephaly, Lissencephaly, Dandy-Wa... OMIM:612938
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Broad nasal tip, Long philtrum, Open mouth, Everted lower lip vermilion, Deep... OMIM:137550
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Bulbous nose, Wide nasal bridge, Ventriculomegaly, Microcephaly, Hy... OMIM:300958
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Flexion contracture, Agenesis of corpus callosum, Skeletal muscle atrophy, Wide nasa... OMIM:218000
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Hypoplasia of the max... ORPHA:1529
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Hypoplasia of the maxilla, Microretrognathia, Camptodactyly, Cleft palate OMIM:246560
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Convex nasal ridge, Hypoplasia of the maxilla, Short stature, Premature loss of t... OMIM:156510
Desmosterolosis
Abnormal cortical gyration, Bifid uvula, Severe short stature, Micrognathia, Microcephaly, Lissen... ORPHA:35107
Multiple Epiphyseal Dysplasia, Lowry Type
Broad nasal tip, Rhizomelia, Micrognathia, Knee flexion contracture, Short stature, Cleft hard pa... ORPHA:166016
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Convex nasal ridge, Chiari malformation, Choanal atresia, Hypoplasia ... ORPHA:93262
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Abnormal palate morphology, Hypodontia, Microcephaly, Mandibular prognathia, Camptodactyly of fin... ORPHA:1236
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition, Short stature, Broad nasal tip ORPHA:2776
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Ventriculomegaly, Micrognathia... OMIM:614120
Rapp-Hodgkin Syndrome
Narrow mouth, Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Velopharyngeal insufficien... OMIM:129400
Amish Lethal Microcephaly
Agenesis of corpus callosum, Cleft soft palate, Limb hypertonia, Ventriculomegaly, Micrognathia, ... ORPHA:99742
Triopia
Polyhydramnios, Midline facial cleft, Cleft palate, Median cleft lip ORPHA:3374
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula, Malar flattening OMIM:300850
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, High, narrow palate, Abnormal mandible morphology, Submucous cleft hard palate, Abnor... ORPHA:3201
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, High palate, Webbed neck, Bifid uvula, Delayed eruption of teeth, Hypod... OMIM:612350
Emanuel Syndrome
Bifid uvula, Long philtrum, Micrognathia, Microcephaly, Dandy-Walker malformation, Oligohydramnio... ORPHA:96170
Bartsocas-Papas Syndrome 1
Cleft upper lip, Intrauterine growth retardation, Anal stenosis, Underdeveloped nasal alae, Flexi... OMIM:263650
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Depressed nasal bridge, Short stature, Bifid uvula OMIM:601492
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Hydrocephalus OMIM:258320
Spastic Paraplegia 81, Autosomal Recessive
Microcephaly, Bifid uvula, Cleft palate, Periventricular white matter hyperintensities OMIM:618768
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Cohen Syndrome
Short philtrum, Facial hypotonia, Cerebellar hypoplasia, Open mouth, Convex nasal ridge, High, na... OMIM:216550
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Hypoplasia of the maxilla, Microcephaly, Short stature, Prominent nasal bridge, Camp... ORPHA:85279
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Moderately short stature, Microcephaly, Bifid uvula, Cleft palate ORPHA:506353
Fraser Syndrome 1
Abnormal cortical gyration, Cleft upper lip, Underdeveloped nasal alae, Cleft ala nasi, Choanal s... OMIM:219000
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Lobulated tongue, Molar tooth sign on MRI, Wide nasal bridge, Ventri... OMIM:617127
Osteolysis Syndrome, Recessive
Broad nasal tip, Knee flexion contracture, Hypoplasia of the maxilla, Short stature, Elbow flexio... OMIM:259610
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Microcephaly, Basal ganglia calcification, Prominent nasal bridge OMIM:608432
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Lujan-Fryns Syndrome
Short philtrum, High palate, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:776
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Broad nasal tip, Hydrocephalus, Lobulated t... OMIM:252100
Aarskog-Scott Syndrome
Cleft upper lip, Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Everted lower... ORPHA:915
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Long philtrum, Convex nasal ridge, Severe intrauterine growth retardation, Micrognat... OMIM:241410
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Open mouth, Thick lower lip vermilion, Supernumerary tooth, Submucous c... OMIM:617412
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the corpus callosum, Everted lower lip vermilion, Widely spaced teeth, Micr... ORPHA:192
Zimmermann-Laband Syndrome 3
High palate, Broad nasal tip, Bifid uvula, Flexion contracture, Thick lower lip vermilion, Wide n... OMIM:618658
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Cleft upper lip, Long philtrum, Agenesis of corpus callosum, Cerebellar hypoplasia,... ORPHA:93271
Malan Syndrome
Narrow mouth, Hypoplasia of the corpus callosum, Everted lower lip vermilion, Hyperplasia of the ... OMIM:614753
Coffin-Siris Syndrome 11
High palate, Bifid uvula, Agenesis of corpus callosum, Bulbous nose, Cleft soft palate, Esophagea... OMIM:618779
Walker-Warburg Syndrome
Abnormal cortical gyration, Bifid uvula, Agenesis of corpus callosum, Skeletal muscle atrophy, Ce... ORPHA:899
Congenital Disorder Of Glycosylation, Type Id
High palate, Cerebral atrophy, Bifid uvula, Cerebellar atrophy, Flexion contracture, Bulbous nose... OMIM:601110
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Broad nasal tip, Cleft upper lip, Hypothala... OMIM:277170
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Progressive microcephaly, Right ventricular hypertrophy, Hypoplasia of the maxi... OMIM:614261
Schilbach-Rott Syndrome
Narrow mouth, Long nose, Bifid uvula, Micrognathia, Submucous cleft hard palate, Microcephaly, Sh... OMIM:164220
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Dilation of lateral ventricles, Probst bundles, Intrauterine growth retardation, Lon... OMIM:612863
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Agenesis of corpus callosum, Non-midline cleft lip, Enamel ... ORPHA:2919
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Anteverted nares, Long philtrum, Velopharyngeal insufficiency, Intestinal malrotation, Wide nasal... OMIM:614701
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Bulbous nose, Hypoplasia of the maxilla, Short stature, Mandibular prognathia ORPHA:93945
Mandibulofacial Dysostosis With Alopecia
Trismus, Everted lower lip vermilion, Wide nasal bridge, Micrognathia, Delayed eruption of primar... OMIM:616367
Crouzon Syndrome
Cerebellar hypoplasia, Convex nasal ridge, Chiari malformation, Choanal atresia, Hypoplasia of th... ORPHA:207
Spondylometaphyseal Dysplasia, Schmidt Type
Severe short stature, Cleft soft palate, Disproportionate short-trunk short stature, Micrognathia... ORPHA:93316
Pai Syndrome
Bifid uvula, Aplasia/Hypoplasia of the corpus callosum, Nasal polyposis, Depressed nasal bridge, ... ORPHA:1993
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Leukopenia, Lymphopenia OMIM:615934
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Cerebellar atrophy, Bulbous nose, Unilateral cleft palate, Unilateral... OMIM:619103
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal corpus callosum morphology, Rhombencephalosynapsis, Abnormal... ORPHA:280195
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte transformation wit... OMIM:243150
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Depressed nasal ridge, Prominence of the premaxilla, Wi... ORPHA:2412
1Q41Q42 Microdeletion Syndrome
Broad nasal tip, Underdeveloped nasal alae, Growth delay, Congenital diaphragmatic hernia, Submuc... ORPHA:250999
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Bifid uvula, Delayed eruption of teeth, Severe short stature, Wide nasal ... ORPHA:2780
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Abnormal palate morphology, Long philtrum, Fused teeth... ORPHA:2712
Isolated Childhood Apraxia Of Speech
Caudate atrophy, Abnormal caudate nucleus morphology, Drooling, High, narrow palate, Submucous cl... ORPHA:209908
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla... OMIM:601216
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, High palate, Broad nasal tip, Recurrent upper respiratory tract infections, O... ORPHA:293939
Apert Syndrome
Ectopic anus, Bifid uvula, Delayed eruption of teeth, Agenesis of corpus callosum, Convex nasal r... ORPHA:87
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Hypoplasia of the maxilla, Microcephaly, Short stature, Mandibular prognathia ORPHA:93950
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Bulbous nose, Gingival fibromatosis, Hypodontia, Supernumerary tooth, G... ORPHA:3473
Marshall Syndrome
Cerebral calcification, High palate, Hypoplastic frontal sinuses, Long philtrum, Thick lower lip ... ORPHA:560
Pfeiffer Syndrome
High palate, Choanal stenosis, Chiari malformation, Choanal atresia, Hypoplasia of the maxilla, D... OMIM:101600
Pycnodysostosis
High palate, Cerebral dysmyelination, Intrauterine growth retardation, Enamel hypoplasia, Rhizome... ORPHA:763
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia OMIM:226300
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Scapular winging, Bulbous nose, Enamel hypoplasia, Prominent frontal sinuses, Oligod... OMIM:170390
8Q22.1 Microdeletion Syndrome
Long philtrum, Depressed nasal ridge, Camptodactyly of finger, Wide nasal bridge, Submucous cleft... ORPHA:178303
Arthrogryposis, Distal, Type 3
High palate, Bifid uvula, Distal arthrogryposis, Micrognathia, Knee flexion contracture, Submucou... OMIM:114300
Dysostosis, Stanescu Type
Cerebral calcification, Abnormal palate morphology, Carious teeth, Convex nasal ridge, Macrogloss... ORPHA:1798
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Long philtrum, Cleft palate ORPHA:90653
Cerebrofacioarticular Syndrome
Narrow mouth, Dysplastic corpus callosum, Agenesis of corpus callosum, Anal stenosis, Bilateral c... ORPHA:314679
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long nose, Long philtrum, Delayed eruption of teeth, Underdeveloped nasal alae, Nar... OMIM:257850
Holoprosencephaly 3
Single naris, Central diabetes insipidus, Solitary median maxillary central incisor, Bifid uvula,... OMIM:142945
Orofaciodigital Syndrome Type 4
Bifid uvula, Camptodactyly of finger, Severe short stature, Abnormality of the tongue, High, narr... ORPHA:2753
Uvula, Bifid
Bifid uvula OMIM:192100
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Short stature, Malar flattening... ORPHA:79113
Cleft Soft Palate
Cleft soft palate OMIM:119570
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Short nose OMIM:122880
Keipert Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Hypoplasia of the maxilla, Depressed nasal b... ORPHA:2662
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula, Scapular winging, Generalized amyotrophy, Facial diplegia... ORPHA:169186
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Long philtrum, Intestinal malrotation, Abnormal oral frenulum morphology, Deep philt... ORPHA:404440
Pde4D Haploinsufficiency Syndrome
Short philtrum, Intrauterine growth retardation, Long philtrum, Micrognathia, Hypoplasia of the m... ORPHA:439822
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Narrow nose, Micrognathia, Hypoplasia of the maxilla, Prominent nasal ... OMIM:601812
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal erythrocyte mor... ORPHA:324636
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, High palate, Long nose, Flexion contracture, Agenesis of corpus callosum, Open mo... OMIM:309520
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Recurrent upper respiratory tract infections, Flexion contracture, Facial hypotonia,... OMIM:300534
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Bifid uvula, Agenesis of corpus callosum, Enamel hypoplasia, Cerebellar vermis ... OMIM:615802
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Microdontia, Microglossia, Hypoplasia of the maxilla, Short stature, M... ORPHA:1307
Spherocytosis, Type 5
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612690
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Moebius Syndrome
High palate, Bifid uvula, Micrognathia, Hypoplasia of the brainstem, Depressed nasal bridge, Abno... OMIM:157900
Kleefstra Syndrome 2
Microcephaly, Bifid uvula, Everted lower lip vermilion, Growth delay OMIM:617768
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Anteverted nares, Flexion contracture, Long philtrum, Bulbous nose, Progressive micr... ORPHA:481152
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Long philtrum, Underdeveloped nasal alae, Evert... OMIM:608670
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, High palate, Prominent nasal bridge, Mandibular prognathia OMIM:300676
Acrodysostosis
Delayed eruption of teeth, Open bite, Depressed nasal ridge, Open mouth, Wide nasal bridge, Hypop... ORPHA:950
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, High palate, Bifid uvula, Microdontia, Widely spaced teeth, Macroglossia... OMIM:266920
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the maxilla, Short stature, Malar fl... OMIM:109120
Nablus Mask-Like Facial Syndrome
Narrow mouth, High palate, Long philtrum, Abnormality of the dentition, Joint contracture of the ... OMIM:608156
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Holoprosencephaly 9
Abnormal cortical gyration, Hypoplasia of the premaxilla, Panhypopituitarism, Microcephaly, Decre... OMIM:610829
Pallister W Syndrome
Broad nasal tip, Broad uvula, Joint contracture of the hand, Agenesis of central incisor, Wide na... OMIM:311450
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Bifid uvula, Long philtrum, Bulbous nose, Cerebellar hypoplasia, Wide... OMIM:300968
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Retrognathia, Hydrocephalus, Cleft palate ORPHA:2736
Branchiogenic-Deafness Syndrome
Branchial cyst, Trismus, Submucous cleft hard palate, Short stature, Branchial fistula OMIM:609166
Holoprosencephaly 1
Agenesis of corpus callosum, Cerebellar hypoplasia, Aplasia of the nose, Microcephaly, Short stat... OMIM:236100
Marden-Walker Syndrome
Bifid uvula, Severe short stature, Cerebellar hypoplasia, Micrognathia, Microcephaly, Retrognathi... ORPHA:2461
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Cerebral dysmyelination, Bifid uvula, Moderate intrauterine growth retardation, Severe postnatal ... ORPHA:293967
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Webbed neck, Tracheoesophageal fistula, Esophageal atresia, Choanal atresia, Submucous cleft hard... OMIM:619227
Cerebellar-Facial-Dental Syndrome
Long philtrum, Severe short stature, Cerebellar hypoplasia, Micrognathia, Hypoplasia of the brain... ORPHA:444072
Meckel Syndrome, Type 4
Hydrocephalus, Intrauterine growth retardation, Molar tooth sign on MRI, Anencephaly, Microcephal... OMIM:611134
Constricting Bands, Congenital
Cleft upper lip, Cleft palate, Facial cleft OMIM:217100
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Delayed eruption of teeth, Microdontia, Carious teeth, Hypoplasia of ... ORPHA:50814
Temple Syndrome
Bifid uvula, Short stature, Hydrocephalus, Postnatal growth retardation, Decreased response to gr... ORPHA:254516
Atelosteogenesis, Type Iii
Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Depressed nasal bridge, Malar flattening, Cl... OMIM:108721
Meier-Gorlin Syndrome 5
Intrauterine growth retardation, Long philtrum, Micrognathia, Submucous cleft hard palate, Hypopl... OMIM:613805
Acrodysostosis 1 With Or Without Hormone Resistance
Broad nasal tip, Intrauterine growth retardation, Delayed eruption of teeth, Hypodontia, Mild pos... OMIM:101800
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Cri-Du-Chat Syndrome
High palate, Short philtrum, Bifid uvula, Diastasis recti, Thick lower lip vermilion, Wide nasal ... OMIM:123450
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Underdeveloped nasolabial fold, Bifid uvula, Everted lower lip vermilion, Microg... ORPHA:177907
White-Sutton Syndrome
High palate, Short philtrum, Bifid uvula, Broad nasal tip, Intrauterine growth retardation, Cereb... OMIM:616364
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Oligodontia, Hypodontia, Microdontia, Growth delay, Abnor... ORPHA:363417
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis ORPHA:134
3Mc Syndrome 2
Cleft upper lip, Diastasis recti, Prominence of the premaxilla, Wide nasal bridge, Depressed nasa... OMIM:265050
Zttk Syndrome
Dysplastic corpus callosum, Bifid uvula, Cerebellar hypoplasia, Intestinal atresia, Short nose, N... OMIM:617140
15Q Overgrowth Syndrome
Hydrocephalus, High palate, Bifid uvula, Intrauterine growth retardation, Agenesis of corpus call... ORPHA:314585
Chromosome 18Q Deletion Syndrome
Short philtrum, Bifid uvula, Cleft upper lip, Cerebellar hypoplasia, Choanal stenosis, Abnormal c... OMIM:601808
Aarskog-Scott Syndrome
Anteverted nares, Cleft upper lip, Elevated circulating luteinizing hormone level, Hypodontia, Mi... OMIM:305400
Poems Syndrome
Thrombocytosis, Polycythemia ORPHA:2905
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Unilateral cleft palate, Unilateral cleft lip, Micrognathia, Submucous cleft ha... OMIM:619122
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Short philtrum, Bifid uvula, Long philtrum, Drooling, Perisylvian polymicrogyria, Growth delay, V... OMIM:619121
W Syndrome
Broad nasal tip, Broad uvula, Upper lip pit, Submucous cleft hard palate, Depressed nasal bridge,... ORPHA:2804
Cardiofaciocutaneous Syndrome 1
High palate, Webbed neck, Open bite, Bulbous nose, Aplasia/Hypoplasia of the corpus callosum, Ope... OMIM:115150
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Nager Syndrome
Abnormal palate morphology, Non-midline cleft lip, Micrognathia, Hypoplasia of the maxilla, Hypop... ORPHA:245
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Flexion contracture, Long philtrum, Dilated fourth ventricl... OMIM:619306
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Abnormal corpus callosum morphology, Long philtrum, Cavum septum pellucidum, Abnorma... ORPHA:457279
Axenfeld-Rieger Syndrome
Anal stenosis, Hypodontia, Microdontia, Everted lower lip vermilion, Growth delay, Wide nasal bri... ORPHA:782
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Anemia, Leukopenia, Leukocytosis ORPHA:20
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Convex nasal ridge, Mandibular prognathia ORPHA:1540
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Lower limb muscle weakness, Lower limb amyotrophy, Facial hypotonia OMIM:300266
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Nasal polyposis, Median cleft lip OMIM:155145
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Submucous cleft hard palate, Depressed nasal bridge, Malar fl... OMIM:108300
Hypomandibular Faciocranial Dysostosis
Aglossia, Choanal stenosis, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Pursed lips OMIM:241310
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Bifid uvula, Delayed eruption of teeth, Micrognathia, Submucous cleft hard palate, ... OMIM:300990
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Craniofacial osteosclerosis, Micrognathia, Oligohydramnios, Cleft palate, Pierre-Rob... OMIM:300373
Myhre Syndrome
Narrow mouth, Bifid uvula, Intrauterine growth retardation, Severe short stature, Craniofacial hy... ORPHA:2588
Goldberg-Shprintzen Syndrome
Short philtrum, Bulbous nose, Everted lower lip vermilion, Aganglionic megacolon, Wide nasal brid... OMIM:609460
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Anal stenosis, Hypodontia, Microdontia, Everted lower lip vermilion, Wide nasal b... OMIM:601499
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Cerebellar atrophy, Intrauterine ... ORPHA:356961
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Esophageal atresia, Micrognathia, Smooth philtrum OMIM:614526
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormal midbrain morphology, Supe... ORPHA:314621
Marshall-Smith Syndrome
Cerebellar hypoplasia, Microdontia, Macrogyria, Retrognathia, Short nose, Short mandibular rami, ... OMIM:602535
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Webbed neck, Bifid uvula, Bulbous nose, Thick lower lip vermilion, High, narrow p... OMIM:309583
Meier-Gorlin Syndrome 4
Narrow mouth, Intrauterine growth retardation, Thick lower lip vermilion, Micrognathia, Hypoplasi... OMIM:613804
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Choanal atresia, Hypoplasia of the maxilla, Microcephaly, Short stature, Retrognath... OMIM:616462
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Narrow mouth, Bifid uvula, Maxillozygomatic hypoplasia, Choanal... ORPHA:1790
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Crowded maxillary incisors, Mandibular prognathia ORPHA:397973
Van Den Ende-Gupta Syndrome
High palate, Underdeveloped nasal alae, Choanal stenosis, Narrow nose, Everted lower lip vermilio... OMIM:600920
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia,... OMIM:615688
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Intrauterine growth retardation, Cleft soft palate, Wide nasal bridg... ORPHA:2282
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebral atrophy, Cerebellar atrophy, Flexion contracture, Intrauterine growth retardation, Narro... OMIM:618891
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Short stature, Intrauterine growth retardation OMIM:608154
Apert Syndrome
Bifid uvula, Cerebellar hypoplasia, Rhizomelic arm shortening, Mandibular prognathia, Chiari type... OMIM:101200
Holoprosencephaly 2
Solitary median maxillary central incisor, Bifid uvula, Agenesis of corpus callosum, Cerebellar h... OMIM:157170
Megalocornea-Mental Retardation Syndrome
High palate, Bifid uvula, Long philtrum, Wide nasal bridge, Micrognathia, Microcephaly, Short sta... OMIM:249310
Diamond-Blackfan Anemia 6
Bifid uvula, Cleft upper lip, Growth delay, Micrognathia, Retrognathia, Cleft palate OMIM:612561
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Hamartoma of tongue, Micrognathia, Microglossia, Abnormality of the te... ORPHA:137888
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Short philtrum, Intrauterine growth retardation, Macrodontia, O... ORPHA:193
Opitz gbbb syndrome, type II
Bifid uvula, Diastasis recti, Micrognathia, Thin upper lip vermilion, Cleft palate, Cerebellar ve... OMIM:145410
Kagami-Ogata Syndrome
Flexion contracture, Long philtrum, Diastasis recti, Micrognathia, Hypoplasia of the maxilla, Dep... OMIM:608149
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Conical tooth, Overhanging nasal tip, Hypoplasia of the ... OMIM:619142
Loeys-Dietz Syndrome 5
Hiatus hernia, High palate, Bifid uvula, Cleft soft palate, Overhanging nasal tip, Tented upper l... OMIM:615582
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Micrognathia, Disproportionate short stature, Depressed nasal bridge, Polyhydramnios... ORPHA:1427
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Van Maldergem Syndrome 1
High palate, Dental malocclusion, Tented upper lip vermilion, Growth delay, Anal atresia, Wide na... OMIM:601390
Holoprosencephaly 7
Hydrocephalus, Fusion of the left and right thalami, Solitary median maxillary central incisor, A... OMIM:610828
Martsolf Syndrome 1
Short philtrum, High palate, Broad nasal tip, Micrognathia, Hypoplasia of the maxilla, Microcepha... OMIM:212720
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Bifid uvula, Anosmia, Failure of eruption of permanent teeth, Hypopla... ORPHA:2250
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Short philtrum, Bifid uvula, Bulbous nose, Aganglionic megacolon, Tented upper lip v... ORPHA:247262
Marbach-Schaaf Neurodevelopmental Syndrome
Broad nasal tip, Submucous cleft hard palate, Microcephaly, Depressed nasal bridge, Torticollis, ... OMIM:619680
Cree Mental Retardation Syndrome
Cleft soft palate, Webbed neck, Micrognathia OMIM:606851
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Microcephaly, Bifid uvula OMIM:619239
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
Frontorhiny
Hypoplastic frontal sinuses, Aplasia/Hypoplasia of the corpus callosum, Hypopituitarism, Pericall... ORPHA:391474
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Aicardi Syndrome
Hiatus hernia, Cleft upper lip, Cavum septum pellucidum, Dilated third ventricle, Prominence of t... OMIM:304050
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr... OMIM:105650
Craniolenticulosutural Dysplasia
High palate, Bifid uvula, Long philtrum, Delayed eruption of teeth, Carious teeth, Wide nasal bri... OMIM:607812
Dubowitz Syndrome
High palate, Broad nasal tip, Agenesis of permanent teeth, Intrauterine growth retardation, Delay... OMIM:223370
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Hypoplasia of the maxilla, Microretrognathia, Anteverted nares, Thick vermilion bo... ORPHA:228396
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Congenital diaphragmatic hernia, Micrognathia OMIM:166300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Bifid uvula, Intrauterine growth retardation, Underdeveloped nasal alae, Open mouth,... ORPHA:453499
Joubert Syndrome With Renal Defect
Agenesis of corpus callosum, Molar tooth sign on MRI, Aganglionic megacolon, Prominent nasal brid... ORPHA:220497
Ear-Patella-Short Stature Syndrome
Narrow mouth, Bifid uvula, Intrauterine growth retardation, Severe short stature, Growth delay, H... ORPHA:2554
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Bulbous nose, Microdontia, Supernumerary tooth, Bifid tongue OMIM:258850
Native American Myopathy
Submucous cleft soft palate, High palate, Bifid uvula, Skeletal muscle atrophy, Muscle fiber atro... ORPHA:168572
Cerebrocostomandibular Syndrome
High palate, Webbed neck, Long philtrum, Anal stenosis, Elbow flexion contracture, Cleft soft pal... OMIM:117650
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Andersen-Tawil Syndrome
High palate, Bulbous nose, Abnormality of the dentition, Oligodontia, Wide nasal bridge, Growth d... ORPHA:37553
Carpenter Syndrome 1
High palate, Cerebral atrophy, Agenesis of permanent teeth, Aplasia/Hypoplasia of the corpus call... OMIM:201000
Syndromic Diarrhea
Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Increased mean platelet volume ORPHA:84064
Velocardiofacial Syndrome
Pierre-Robin sequence, Underdeveloped nasal alae, Velopharyngeal insufficiency, Bulbous nose, Ope... OMIM:192430
Branchioskeletogenital Syndrome
Short philtrum, Broad nasal tip, Bifid uvula, Rootless teeth, Blepharochalasis, Unilateral cleft ... ORPHA:1299
Orofaciodigital Syndrome Type 3
Bifid uvula, Bulbous nose, Lobulated tongue, Hamartoma of tongue, Dandy-Walker malformation, Irre... ORPHA:2752
Angelman Syndrome
Drooling, Widely spaced teeth, Macroglossia, Hypoplasia of the maxilla, Cerebral cortical atrophy... OMIM:105830
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Molar tooth sign on MRI, Anencephaly, Congenital diaphragmatic hernia, Depressed... OMIM:616546
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Bifid uvula, Intrauterine growth retardation, Cerebellar hypoplasia, Growth del... OMIM:301030
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Intrauterine growth retardation, Cleft soft palate, Intestinal malrotation, ... OMIM:619321
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Broad nasal tip, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Thin upper lip v... OMIM:619194
Elsahy-Waters Syndrome
High palate, Dental malocclusion, Bifid uvula, Anteverted nares, Long philtrum, Anal stenosis, De... OMIM:211380
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Delayed eruption of teeth, Non-midline cleft lip, Conical tooth, Hyp... ORPHA:1071
Van Maldergem Syndrome 2
High palate, Tented upper lip vermilion, Growth delay, Wide nasal bridge, Micrognathia, Hypoplasi... OMIM:615546
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Median cleft palate, Septo-optic dysplasia, Agenesis o... OMIM:301043
Ring Chromosome 7 Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Median cleft palate, Anteverted nares, Wide nasal brid... ORPHA:1449
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Bifid uvula, Agenesis of corpus callosum, Choanal atresia, Short stature, Prominent ... OMIM:300472
Hepatocellular Carcinoma
Thrombocytosis, Anemia, Thrombocytopenia, Polycythemia ORPHA:88673
Cardiofaciocutaneous Syndrome
Hydrocephalus, High palate, Webbed neck, Long philtrum, Submucous cleft hard palate, Short statur... ORPHA:1340
Joubert Syndrome 2
High palate, Abnormal corpus callosum morphology, Thickened superior cerebellar peduncle, Enlarge... OMIM:608091
Lenz-Majewski Hyperostotic Dwarfism
Bifid uvula, Agenesis of corpus callosum, Severe short stature, Facial palsy, High, narrow palate... ORPHA:2658
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
High palate, Wide nose, Cleft upper lip, Microdontia of primary teeth, Micrognathia, Hypoplasia o... OMIM:213980
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Short upper lip, Wide nasal bridge, Growth delay, Hypoplasia of the maxilla, Malar ... OMIM:271960
Desbuquois Dysplasia 2
Bifid uvula, Intrauterine growth retardation, Long philtrum, Severe short stature, Hypodontia, Mi... OMIM:615777
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Conical tooth, Hypodontia, Widely spaced teeth, Wide nasal bridge, Hypoplasia of... OMIM:106260
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Aicardi Syndrome
Hiatus hernia, Short philtrum, Cleft upper lip, Prominence of the premaxilla, Ventriculomegaly, M... ORPHA:50
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Long philtrum, Cleft soft palate, Micrognathia, Depressed nasal bridge, ... ORPHA:2756
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Dubowitz Syndrome
High palate, Intrauterine growth retardation, Anal stenosis, Delayed eruption of teeth, Aplasia/H... ORPHA:235
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Ventriculomegaly, High, narrow palate, Micrognathia, Hypoplasia of t... ORPHA:2462
Robin Sequence With Cleft Mandible And Limb Anomalies
Narrow mouth, Pierre-Robin sequence, High palate, Bifid uvula, Cleft mandible, Agenesis of mandib... OMIM:268305
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Long nose, Bifid uvula, Camptodactyly of finger, Bulbous nose, Severe short stature, Growth delay... ORPHA:3047
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Flexion contracture, Long philtrum, Molar tooth sign on MRI, Microdontia, ... OMIM:619479
Orofaciodigital Syndrome Type 6
Tongue nodules, High palate, Broad nasal tip, Hypothalamic hamartoma, Aplasia/Hypoplasia of the c... ORPHA:2754
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Multiple joint contractures, Hypodontia, Micrognathia, Microcephaly, Short stature, ... ORPHA:2959
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow mouth, Short philtrum, Submucous cleft soft palate, Deviated nasal septum, Dysplastic corp... OMIM:300967
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Lobulated tongue, Molar tooth sign on MRI, Cerebellar hypoplasia, Anal atresia, Cleft... OMIM:616300
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Bifid uvula, Poorly formed metencephalon, Absent mesencephalon, Micrognathi... OMIM:601374
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Broad nasal tip, Bifid uvula, Open bite, Underdeveloped nasal a... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Broad nasal tip, Bifid uvula, Open bite, Underdeveloped nasal a... ORPHA:352665
Buratti-Harel Syndrome
Submucous cleft hard palate, High palate, Bifid uvula, Velopharyngeal insufficiency OMIM:619314
Branchiootorenal Syndrome 1
Branchial cyst, High palate, Bifid uvula, Intestinal malrotation, Abnormal cerebral morphology, M... OMIM:113650
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad nasal tip, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Underdevelop... ORPHA:268261
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Abnormality of dental morphology, Tooth a... ORPHA:238468
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Camptodactyly, Cleft palate, Joint contracture of the hand OMIM:603543
Birk-Barel Syndrome
Submucous cleft soft palate, High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion... OMIM:612292
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Cleft ala nasi, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla, Elevat... ORPHA:3044
Brucellosis
Leukopenia, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia ORPHA:1304
Alg9-Cdg
Bifid uvula, Long philtrum, Underdeveloped nasal alae, Progressive microcephaly, Micrognathia, Vi... ORPHA:79328
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Webbed neck, Bifid uvula, Enamel hypoplasia, Hypodontia, Mandibular prognathia, Dens in dente, Ma... OMIM:263540
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Underdeveloped nasal alae, Conical tooth, Abnormal oral mucosa morphology, Hypodontia, Microdonti... OMIM:305100
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Anteverted nares, Chiari type I malformation, Micrognathia, Hypoplasia of the maxill... OMIM:182212
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of teeth OMIM:614188
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Ventriculomegaly, Hamartoma of tongue, Depressed nasal bridge, Retrognathia OMIM:617563
Double Outlet Right Ventricle
Narrow mouth, Intestinal malrotation, Submucous cleft hard palate, Short stature, Depressed nasal... ORPHA:3426
Cowden Syndrome 1
Narrow mouth, High palate, Colonic diverticula, Micrognathia, Hemimegalencephaly, Hamartomatous p... OMIM:158350
Restrictive Dermopathy 1
Narrow mouth, Narrow nasal ridge, Flexion contracture, Intrauterine growth retardation, Temporoma... OMIM:275210
Myhre Syndrome
Narrow mouth, Short philtrum, Intrauterine growth retardation, Generalized muscle hypertrophy, Cl... OMIM:139210
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Hypochromic anemia, Leukocytosis OMIM:618213
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge OMIM:167730
Meier-Gorlin Syndrome 3
Narrow mouth, Intrauterine growth retardation, Micrognathia, Hypoplasia of the maxilla, Microceph... OMIM:613803
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Bulbous nose, Ankle flexion contracture, Micrognathia, Hypoplasia of t... OMIM:259600
Meier-Gorlin Syndrome 1
Narrow mouth, High palate, Flexion contracture, Intrauterine growth retardation, Joint contractur... OMIM:224690
Limb-Mammary Syndrome
Submucous cleft soft palate, Bifid uvula, Hypodontia, Cleft lip, Malar flattening, Psoriasiform d... ORPHA:69085
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Bifid uvula, Cerebellar hemisphere hypoplasia, Proportionate short st... ORPHA:500150
Saethre-Chotzen Syndrome
Open bite, Convex nasal ridge, Hypoplasia of the maxilla, Short stature, Depressed nasal bridge, ... ORPHA:794
Orofaciodigital Syndrome V
High palate, Bifid uvula, Agenesis of corpus callosum, Lobulated tongue, Hypodontia, Aganglionic ... OMIM:174300
Frontometaphyseal Dysplasia 2
Pierre-Robin sequence, High palate, Short philtrum, Bifid uvula, Broad nasal tip, Webbed neck, De... OMIM:617137
Holoprosencephaly 4
Depressed nasal bridge, Absent nasal septal cartilage, Median cleft lip and palate, Depressed nas... OMIM:142946
Camptodactyly Syndrome, Guadalajara, Type I
Narrow mouth, High palate, Bifid uvula, Scapular winging, Intrauterine growth retardation, Campto... OMIM:211910
Geroderma Osteodysplasticum
Severe short stature, Periodontitis, Hypoplasia of the maxilla, Microcephaly, Malar flattening, M... OMIM:231070
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Semilobar Holoprosencephaly
Single naris, High palate, Bifid uvula, Solitary median maxillary central incisor, Agenesis of co... ORPHA:220386
Alobar Holoprosencephaly
Single naris, High palate, Bifid uvula, Solitary median maxillary central incisor, Agenesis of co... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Single naris, High palate, Bifid uvula, Solitary median maxillary central incisor, Agenesis of co... ORPHA:93926
Lobar Holoprosencephaly
Single naris, High palate, Bifid uvula, Solitary median maxillary central incisor, Agenesis of co... ORPHA:93924
Stickler Syndrome
Cleft upper lip, Long philtrum, Open bite, Depressed nasal ridge, Skeletal muscle atrophy, Microg... ORPHA:828
Cutis Laxa, Autosomal Recessive, Type Ib
High palate, Bulbous nose, Prominence of the premaxilla, Convex nasal ridge, Micrognathia, Congen... OMIM:614437
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Webbed neck, Bifid uvula, Long philtrum, Underdeveloped nasal alae, Widely spaced te... OMIM:617506
Gorlin-Chaudhry-Moss Syndrome
Aplasia/Hypoplasia of the nasal bone, Oligodontia, Hypoplasia of the maxilla, Short stature, Abno... ORPHA:2095
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Enlarged cerebellum, Abnormal corpus callosum morphology, Bifid uvula, Cerebellar hypoplasia, Abn... ORPHA:261537
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Long philtrum, Hypoplasia of the premaxilla, Micrognathia, Hypoplas... ORPHA:1106
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Webbed neck, Bulbous nose, Dilated fourth ventricle, Lobulated tongue, M... ORPHA:434179
Cowden Syndrome 5
Narrow mouth, High palate, Colonic diverticula, Micrognathia, Hamartomatous polyposis, Hypoplasia... OMIM:615108
Holoprosencephaly-Postaxial Polydactyly Syndrome
Narrow mouth, Absent nares, Hypoplasia of the premaxilla, Aplasia/Hypoplasia of the corpus callos... ORPHA:2166
Coffin-Siris Syndrome 12
Enlarged cerebellum, High palate, Anteverted nares, Underdeveloped nasal alae, Velopharyngeal ins... OMIM:619325
Microphthalmia, Syndromic 2
Broad nasal tip, Hypoplasia of the corpus callosum, Bifid uvula, Fused teeth, Long philtrum, Dela... OMIM:300166
Nasopalpebral Lipoma-Coloboma Syndrome
Recurrent upper respiratory tract infections, Severe postnatal growth retardation, Hypoplasia of ... ORPHA:2399
Acrocephalopolysyndactyly Type Iii
Hypoplasia of the maxilla, Malar flattening, Dental crowding, Mandibular prognathia OMIM:101120
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Depressed nasal ridge, Non-midline cleft lip, Bilateral cleft lip and palate, Tooth agenesis, Abs... ORPHA:2003
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Sinusitis, Abnormal hypothalamus morphology, Cerebral edema, Abnormalit... ORPHA:68
Aarskog Syndrome, Autosomal Dominant
Cleft upper lip, Long philtrum, Flexion contracture, Mild short stature, Wide nasal bridge, Anal ... OMIM:100050
Mowat-Wilson Syndrome
Abnormal corpus callosum morphology, Generalized muscle hypertrophy, Abnormal hippocampus morphol... OMIM:235730
Trisomy 8P
Malrotation of small bowel, Bifid uvula, Recurrent upper respiratory tract infections, Anteverted... ORPHA:264450
Cowden Syndrome 6
Narrow mouth, High palate, Colonic diverticula, Micrognathia, Hamartomatous polyposis, Hypoplasia... OMIM:615109
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Lower limb muscle weakness, Abnorm... ORPHA:206448
Loeys-Dietz Syndrome 4
High palate, Bifid uvula, Broad uvula, High, narrow palate, Eosinophilic infiltration of the esop... OMIM:614816
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Nasal congestion, Depressed nasal ridge, Short columella, Thick nasal alae, Hypo... ORPHA:79345
Mowat-Wilson Syndrome
Enlarged cerebellum, Bifid uvula, Abnormal hippocampus morphology, Everted lower lip vermilion, W... ORPHA:2152
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Central diabetes insipidus, Broad nasal tip, Rectovaginal fistula, Cleft upper lip, Absence of St... OMIM:129900
Campomelic Dysplasia
Neonatal short-limb short stature, High palate, Narrow mouth, Recurrent upper respiratory tract i... OMIM:114290
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Enlarged cerebellum, Hypoplastic anterior commissure, Abnormal corpus callosum morphology, Bifid ... ORPHA:261552
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Abnormality of dental morphology, Short stature, Depressed nasal bridg... OMIM:277600
Congenital Disorder Of Glycosylation, Type It
Pierre-Robin sequence, Bifid uvula, Rhabdomyolysis, Growth delay, Micrognathia, Short stature, De... OMIM:614921
Leukocyte Adhesion Deficiency
Leukocytosis, Impaired neutrophil chemotaxis, Impaired platelet aggregation, Thrombocytosis, Acut... ORPHA:2968
Crouzon Syndrome
Hypoplasia of the maxilla, Dental crowding, Abnormal nasopharynx morphology, Mandibular prognathia OMIM:123500
Ablepharon Macrostomia Syndrome
Anteverted nares, Underdeveloped nasal alae, Microdontia, Growth delay, Hypoplasia of the maxilla... ORPHA:920
Frontofacionasal Dysplasia
Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Malar flattening, Hypoplasia of the fron... OMIM:229400
Tolchin-Le Caignec Syndrome
Narrow mouth, High palate, Diastasis recti, Wide nasal bridge, Micrognathia, Submucous cleft hard... OMIM:618971
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Long philtrum, Diastasis recti, Tented upper lip vermilion, Micrognathia, Macroglossia, Microceph... ORPHA:96334
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Long nose, Bifid uvula, Intrauterine growth retardation, Bulbous nose, Severe short stature, Micr... ORPHA:2636
Frontometaphyseal Dysplasia
Shoulder muscle hypoplasia, Bifid uvula, Oligodontia, Wide nasal bridge, Growth delay, Micrognath... ORPHA:1826
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Hypoplasia of the maxilla, Anodontia, Short stature OMIM:211370
Tetrasomy 9P
Amelogenesis imperfecta, High palate, Bifid uvula, Abnormal number of permanent teeth, Intrauteri... ORPHA:3310
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Baller-Gerold Syndrome
Narrow mouth, High palate, Rectovaginal fistula, Bifid uvula, Agenesis of corpus callosum, Underd... OMIM:218600
Peters-Plus Syndrome
Long philtrum, Diastasis recti, Widely spaced teeth, Exaggerated cupid's bow, Micrognathia, Micro... OMIM:261540
Restrictive Dermopathy
Narrow mouth, Webbed neck, Intrauterine growth retardation, Temporomandibular joint ankylosis, Mu... ORPHA:1662
Japanese Encephalitis
Abnormal pons morphology, Cerebral edema, Abnormal caudate nucleus morphology, Abnormal substanti... ORPHA:79139
Treacher Collins Syndrome 1
Narrow mouth, Cleft soft palate, Micrognathia, Choanal atresia, Malar flattening, Abnormal paroti... OMIM:154500
Greenberg Dysplasia
Depressed nasal ridge, Rhizomelia, Hydrops fetalis, Nonimmune hydrops fetalis, Micrognathia, Hypo... OMIM:215140
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Short stature, Bifid uvula, Cleft palate OMIM:617660
Weill-Marchesani Syndrome 2
High palate, Hypoplasia of the maxilla, Abnormality of dental morphology, Short stature, Depresse... OMIM:608328
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Cleft upper lip, Absence of Stensen duct, Carious teeth, Microdontia,... OMIM:604292
Wiedemann-Rautenstrauch Syndrome
Cerebellar hypoplasia, Increased circulating prolactin concentration, Retrognathia, Thin upper li... ORPHA:3455
Spondyloepiphyseal Dysplasia Congenita
Pierre-Robin sequence, Bifid uvula, Malar flattening, Neonatal short-trunk short stature, Cleft p... OMIM:183900
Meester-Loeys Syndrome
Bifid uvula, Flexion contracture, Ventriculomegaly, Malar flattening, Camptodactyly OMIM:300989
Dyskeratosis Congenita
Oral leukoplakia, Cerebral calcification, Intrauterine growth retardation, Hypodontia, Carious te... ORPHA:1775
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Micrognathia, Mandibular prognathia, Arthrogryposis multiplex congenita, Thin upper lip vermilion... OMIM:619503
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Bifid uvula, Distal arthrogryposis, ... ORPHA:672
Doors Syndrome
Thrombocytosis ORPHA:79500
Orofaciodigital Syndrome Xiv
Cerebellar hypoplasia, Lobulated tongue, Molar tooth sign on MRI, Supernumerary tooth, Bifid tong... OMIM:615948
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Long philtrum, Microcephaly, Dilation of lateral ventricles, High palate, Cleft uppe... OMIM:607872
Craniofacial Microsomia
Cleft upper lip, Agenesis of corpus callosum, Maxillozygomatic hypoplasia, Chiari malformation, M... OMIM:164210
Neurofaciodigitorenal Syndrome
Intrauterine growth retardation, Hypoplasia of the premaxilla, Abnormal oral mucosa morphology, A... ORPHA:2673
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Long philtrum, High, narrow palate, Hypoplasia of the maxilla, Mandibular prognathia, Hypoplasia ... ORPHA:1101
Rubinstein-Taybi Syndrome 1
Micrognathia, Microcephaly, Retrognathia, Narrow mouth, High palate, Recurrent upper respiratory ... OMIM:180849
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Myopathy, Skeletal muscle atrophy OMIM:614557
Distal Monosomy 19P13.3
Hypoplasia of the maxilla, Short philtrum, Cleft palate ORPHA:96129
Loeys-Dietz Syndrome 1
Bifid uvula, Chiari malformation, Micrognathia, Malar flattening, Eosinophilic infiltration of th... OMIM:609192
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Narrow mouth, Bifid uvula, Flexion contracture, Wide nasal bridge, Micrognathia, Short stature, C... OMIM:130070
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Narrow mouth, Broad nasal tip, Bifid uvula, Wide nasal bridge, Exaggerated cupid's bow, Partial a... OMIM:619480
Viss Syndrome
Bifid uvula, High, narrow palate, Macroglossia, Micrognathia, Microcephaly, Retrognathia, Duodeni... OMIM:619472
Saethre-Chotzen Syndrome
Long nose, Narrow nose, Convex nasal ridge, Cleft of chin, Hypoplasia of the maxilla, Short statu... OMIM:101400
Microphthalmia, Syndromic 6
High palate, Bifid uvula, Flexion contracture of thumb, Aplasia/Hypoplasia of the corpus callosum... OMIM:607932
Floating-Harbor Syndrome
Short philtrum, Broad nasal tip, Long nose, Oligodontia, Carious teeth, Microdontia, Growth delay... ORPHA:2044
Primrose Syndrome
Narrow mouth, Broad nasal tip, Cerebral calcification, Flexion contracture, Thick lower lip vermi... OMIM:259050
Axenfeld-Rieger Syndrome, Type 1
Short philtrum, Anal stenosis, Hypodontia, Wide nasal bridge, Anal atresia, Hypoplasia of the max... OMIM:180500
Pallister-Killian Syndrome
Bifid uvula, Long philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Micrognathia... OMIM:601803
Neuroocular Syndrome
Scapular winging, Widely spaced teeth, Short uvula, Submucous cleft hard palate, Microcephaly, Sh... OMIM:619539
Lacrimoauriculodentodigital Syndrome
Abnormal salivary gland morphology, Bifid uvula, Anosmia, Enamel hypoplasia, Hypodontia, Microdon... ORPHA:2363
Loeys-Dietz Syndrome
High palate, Bifid uvula, Micrognathia, Malar flattening, Oral cleft, Camptodactyly of finger, Th... ORPHA:60030
Steinfeld Syndrome
Bifid uvula, Median cleft lip and palate, Aplasia of the nose OMIM:184705
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Unilateral cleft palate, Unilateral cleft lip, Growth ... OMIM:301068
Loeys-Dietz Syndrome 2
Bifid uvula, Chiari malformation, Micrognathia, Malar flattening, Eosinophilic infiltration of th... OMIM:610168
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Recurrent upper respiratory tract infections... ORPHA:293987
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia ORPHA:2975
Singleton-Merten Syndrome 1
Tendon rupture, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Hypoplasia of the ... OMIM:182250
Digeorge Syndrome
High palate, Short philtrum, Bifid uvula, Drooling, High, narrow palate, Micrognathia, Microcepha... OMIM:188400
Aneurysm-Osteoarthritis Syndrome
High palate, Bifid uvula, Malar flattening, Retrognathia, Camptodactyly of finger, Dental maloccl... ORPHA:284984
Loeys-Dietz Syndrome 3
High palate, Bifid uvula, Malar flattening, Eosinophilic infiltration of the esophagus, Retrognat... OMIM:613795
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.

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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter