banner
Genes Phenotypes Help, News, Blog

Gene: Impa1 MGI:1933158

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inositol (myo)-1(or 4)-monophosphatase 1
Synonyms:
lithium-sensitive myo-inositol monophosphatase A1,  2610002K09Rik,  2900059K10Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Impa1 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.

The table below shows human diseases associated to Impa1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323

The table below shows human diseases predicted to be associated to Impa1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, 8
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder OMIM:607417
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... OMIM:617113
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn... OMIM:608636
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... OMIM:311895
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Agitation, Abnormal repe... OMIM:617171
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Intellectual Developmental Disorder, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... OMIM:239500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:617863
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M... ORPHA:2382
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Hartnup Disorder
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Generalized to... OMIM:234500
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Seizure, Falls,... OMIM:619150
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetitive mannerisms, Self-mu... OMIM:614063
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Seizure, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Generalized-onset seizure, Seizure OMIM:616657
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Ataxia OMIM:613402
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Athetosis, Self-injur... ORPHA:382
Developmental And Epileptic Encephalopathy 58
Inability to walk, Seizure, Abnormal repetitive mannerisms, Status epilepticus OMIM:617830
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsive behaviors OMIM:301107
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Seizure, Increa... OMIM:119540
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ... OMIM:618090
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Abnormal repetitive mannerisms OMIM:619470
Landau-Kleffner Syndrome
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... ORPHA:98818
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus OMIM:605899
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia, Recurrent hand flapping... OMIM:617862
Catel-Manzke Syndrome
Camptodactyly of finger, Micrognathia, Metatarsus valgus, Radial deviation of the 2nd finger, Cle... ORPHA:1388
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure OMIM:613886
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Aggressive behavior OMIM:248510
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei... OMIM:618917
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... ORPHA:141152
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Clonic seizure OMIM:615282
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Epiphyseal stippling, Seizure, Death in infancy OMIM:614876
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Short thumb, Action myoclonus, Status epilepticus, Myoclonus, Gen... OMIM:616540
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Difficulty walking, Abnormal repet... OMIM:617393
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Febrile seizure (within the age range... OMIM:615516
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Overlapping toe, Cleft palate, Seizure, High palate, Compulsive behaviors, Attention deficit hype... OMIM:620021
Intellectual Developmental Disorder, Autosomal Recessive 74
Mandibular prognathia, Hyperactivity, Narrow palate, Seizure, Brachydactyly OMIM:617169
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm... ORPHA:166100
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity ORPHA:85288
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... OMIM:614669
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity, Bruxism OMIM:300434
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Seizure, Bruxism, Abnormal repetitive ... OMIM:618718
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... OMIM:271980
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms OMIM:617820
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Pallister-Hall-Like Syndrome
Death in infancy, Occipital encephalocele, Median cleft lip, Toe syndactyly, Micrognathia, Postax... OMIM:241800
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Cleft palate, Bowing of the arm, Retro... OMIM:249710
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Myocl... OMIM:600795
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Seizure, High palate, Retrognathia OMIM:300983
Xq25 Microduplication Syndrome
Mandibular prognathia, Hyperactivity, Seizure, Thick vermilion border, Malar flattening ORPHA:521258
16P11.2P12.2 Microduplication Syndrome
Seizure, Attention deficit hyperactivity disorder, Cleft palate ORPHA:261204
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Seizure, Short mandibular rami OMIM:141300
Satb2-Associated Syndrome Due To A Pathogenic Variant
Thin upper lip vermilion, Abnormality of the dentition, Celiac disease, Micrognathia, Typical abs... ORPHA:576283
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Micrognathia, Whistling appearance, Narrow mouth, Trismus, Elbow fl... OMIM:277720
Encephalopathy, Progressive, With Or Without Lipodystrophy
Seizure, Hyperactivity, Ataxia, Myoclonus OMIM:615924
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Seizure OMIM:612716
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Hyperactivity, Restlessness, Bilateral tonic-clonic seizure, Aggressive... OMIM:300558
Intellectual Developmental Disorder, X-Linked 107
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Prominent cr... OMIM:301013
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior OMIM:620270
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Vertebral fusion, Dental crowding, Aggressive behavior, 2-3 toe... ORPHA:313892
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Mandibular prognathia, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, ... OMIM:604317
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... OMIM:617600
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... OMIM:620269
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Cleft p... OMIM:614815
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Myoclonic seizure, Downturned corners of mouth, Open mo... OMIM:618732
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Dental crowding, Persistence of primary teeth, Aggressive behavior, Micrognathia, ... OMIM:618342
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Micrognathia, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, ... OMIM:227270
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal... ORPHA:3201
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening OMIM:183700
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Attention ... OMIM:618761
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
Ck Syndrome
Hyperactivity, Dental crowding, Aggressive behavior, Micrognathia, Seizure, High palate, Malar fl... OMIM:300831
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Choreoa... ORPHA:561854
Clark-Baraitser Syndrome
Thin upper lip vermilion, Hyperactivity, Exaggerated cupid's bow, Sandal gap, Aggressive behavior... OMIM:617752
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... OMIM:301029
Chromosome Xq25 Duplication Syndrome
Mandibular prognathia, Hyperactivity, Seizure, Thick vermilion border, Malar flattening OMIM:300979
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure, Oral-pharyngeal dyspha... ORPHA:208447
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia... ORPHA:94066
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Hyperextensibility of the finger joints, Aggressive behavior, Micrognathia, Cle... OMIM:618356
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
2Q23.1 Microdeletion Syndrome
Hyperactivity, Tented upper lip vermilion, Macrodontia, Sandal gap, Polyphagia, Seizure, Self-inj... ORPHA:228402
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Seizure, Aggressive behavior OMIM:618362
Ck Syndrome
Microretrognathia, Long toe, Hyperactivity, Dental crowding, Aggressive behavior, Long fingers, S... ORPHA:251383
Parietal Foramina 1
Encephalocele, Cleft upper lip, Cleft palate, Seizure, Wormian bones OMIM:168500
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure OMIM:619690
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Hyperactivity, Repeated focal motor seizures, Bilateral tonic-cloni... ORPHA:1929
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal pha... OMIM:612938
Orofaciodigital Syndrome Iv
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Postaxial polydactyly... OMIM:258860
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Craniosynostosis, Cleft palate OMIM:600252
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Alazami-Yuan Syndrome
Thin upper lip vermilion, Hyperactivity, Dental crowding, Broad hallux, Narrow mouth, High palate... OMIM:617126
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Cleft upper lip, Downturned corners of mouth, Seizure, Short philtrum, Bruxism, Re... OMIM:613192
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Seizure, Diffi... OMIM:617695
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Unsteady ga... ORPHA:485350
Gand Syndrome
Long toe, Thin upper lip vermilion, Hyperactivity, Long fingers, Wide mouth, Short philtrum, Tics... OMIM:615074
Phenylketonuria
Hyperactivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Compulsive... OMIM:261600
Cln5 Disease
Hyperactivity, Generalized-onset seizure, Ataxia, Aggressive behavior, Inability to walk, Focal-o... ORPHA:228360
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip vermilion, Gen... OMIM:300602
Rubinstein-Taybi Syndrome 2
Syndactyly, Hyperactivity, Broad hallux, Intestinal malrotation, Micrognathia, Carious teeth, Tal... OMIM:613684
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Dental crowding, Impulsivity, S... OMIM:300143
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Progressive cerebellar ataxia, Seizure, Myo... ORPHA:248111
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor... OMIM:258850
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Hyperactivity, Brachydactyly, Sandal gap, Thick lower lip vermilion, C... OMIM:614607
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, 2-3 toe syndactyly, Downturned corners of mouth, Lobulated tongue, Seiz... OMIM:613443
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Bruxism, Seizure, Agitation, Focal impaired awareness seizure, Dysphagia, Abnormal... OMIM:617435
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior ORPHA:216873
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short tibia, Hypoplasia ... ORPHA:1972
Intellectual Developmental Disorder, Autosomal Dominant 7
Hallux valgus, Thin upper lip vermilion, Hyperactivity, Micrognathia, Thick lower lip vermilion, ... OMIM:614104
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Micrognathia, Furrowed tongue, Ulnar deviation of f... ORPHA:1387
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat... OMIM:619913
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Hyperactivity OMIM:274270
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Microretrognathia, Hip contracture, Micrognathia, Carious teeth, Coxa valg... OMIM:618363
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Micrognathia, Repetitive compulsive behavior, Seizure, Joint contracture of the ha... ORPHA:352490
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Seizure, Inappropriate laughter, Polyphagia ORPHA:411515
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Seizure, Self-injurious behavior, Compuls... OMIM:619467
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Bilateral tonic-clonic seizure OMIM:609924
Intellectual Disability, Birk-Barel Type
Hyperactivity, Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia... ORPHA:166108
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Seizure, Dysphagia ORPHA:500180
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... OMIM:616300
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Knee flexion contracture, Tongue atrophy, Dysphagia ORPHA:496689
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:3077
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus, Attention deficit hyperact... OMIM:619725
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo... OMIM:614078
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Micrognathia, Clinodactyly, Pierre-Robin sequence, Glossoptosis, High p... OMIM:613604
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Atelosteogenesis, Type Ii
Death in infancy, Sandal gap, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Cle... OMIM:256050
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Inabi... ORPHA:168491
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Infantile spasms, Tonic seizure, Absent thumb, Submucous cleft hard palate, Seizur... OMIM:619239
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Tonic ... OMIM:619580
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Sandal gap, Tapered finger, Cleft lip, Small hand, Cleft palate, Downturned corner... OMIM:618089
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clo... ORPHA:98795
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, Seizure, ... ORPHA:530
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with gen... ORPHA:1942
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Seizure, Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Seizure, Sh... ORPHA:60015
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Trisomy 8Q
Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Myelomeningocele, Cleft palate, Oro... ORPHA:1752
Intellectual Developmental Disorder, Autosomal Recessive 61
Mandibular prognathia, Hyperactivity, Infantile spasms, Tonic seizure, Conical tooth, Aggressive ... OMIM:617773
Facioscapulohumeral Muscular Dystrophy 1
Seizure, Tongue atrophy, Dysphagia OMIM:158900
Cerebrocostomandibular Syndrome
Death in infancy, Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Pos... ORPHA:1393
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C... OMIM:620107
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Cleft palate, Everted lower lip ... OMIM:619736
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the to... ORPHA:989
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Dumbbell-shaped long bone, Micrognathia, Metaphyseal widening,... ORPHA:440354
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, ... OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Restlessness, Brachydactyly, Toni... OMIM:300534
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Crowde... ORPHA:397973
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Auriculocondylar Syndrome 3
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia OMIM:615706
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Thin upper lip vermilion, Hyperactivity, Micrognathia, Long fingers, Generalized non-mo... ORPHA:363686
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Micrognathia, Abnormality of the humerus, Preaxial hand p... ORPHA:3098
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Focal-onset seizure, Myoclonic sei... OMIM:619092
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl... OMIM:615065
Orofaciodigital Syndrome Type 2
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... ORPHA:2751
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Chromosome Xq13 Duplication Syndrome
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Metatarsus a... OMIM:301069
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Potocki-Lupski Syndrome
Mandibular prognathia, Hyperactivity, Dental crowding, Oral-pharyngeal dysphagia, Micrognathia, D... OMIM:610883
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo... OMIM:614120
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, High pal... OMIM:210600
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypoplasia of the radius, Cleft palate, ... OMIM:311900
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:613435
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Fragile X Syndrome
Seizure, Hyperactivity, Recurrent hand flapping, Self-biting OMIM:300624
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Atonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Foc... ORPHA:411986
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth,... ORPHA:411511
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Limitation of movement at ankles, Hyperactivity, Protruding tongue, Abnorm... ORPHA:98794
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth... OMIM:246560
Glass Syndrome
Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Oligodontia, High palate, H... OMIM:612313
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Fifth finger distal phalanx ... ORPHA:2839
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obsessive-compulsive trai... OMIM:618825
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Nail-biting, Hyperactivity, Prominent fingertip pads, Tapered finger, High, narrow... ORPHA:485405
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... OMIM:617127
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... OMIM:174300
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... ORPHA:64280
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f... OMIM:277170
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic girdle bone ... ORPHA:2928
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt... ORPHA:435638
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive b... OMIM:610253
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Enlarged joints, Sandal gap, Abnormal pelvis bone morphol... ORPHA:1427
Intellectual Developmental Disorder, Autosomal Dominant 29
Generalized-onset seizure, Dental crowding, Cutaneous finger syndactyly, High palate, Hyperactivi... OMIM:616078
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms ORPHA:85277
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Abnormal rib morpho... OMIM:602196
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Focal-onset seizure, High, na... ORPHA:436003
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca... OMIM:147891
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Arachnodactyly, Micrognathia, Cleft palate, Narrow mouth, Malar flattening ORPHA:93946
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disor... ORPHA:98784
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radiu... OMIM:602418
Diaphanospondylodysostosis
Missing ribs, Myelomeningocele, Cleft palate, Narrow pelvis bone, Abnormal vertebral segmentation... ORPHA:66637
Intellectual Developmental Disorder, Autosomal Dominant 43
Thin upper lip vermilion, Hyperactivity, Impulsivity, Aggressive behavior, Tapered finger, Gingiv... OMIM:616977
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic bone, Glossoptosis, Short long ... ORPHA:93346
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Self-biting, Downturned corners of mouth, Shor... OMIM:300912
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamar... ORPHA:2930
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... OMIM:619148
Moebius Syndrome
Death in infancy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Aplasia/Hypo... ORPHA:570
19P13.3 Microduplication Syndrome
Hyperactivity, Micrognathia, Long fingers, Clinodactyly, Hip dislocation, Cleft palate, Self-inju... ORPHA:447980
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... OMIM:241310
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Seizure, Dysphagia, Abnormal repetitive mannerisms DECIPHER:45
Kinsship Syndrome
Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, Widely spaced t... OMIM:619297
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Abnormal r... OMIM:619877
Lamb-Shaffer Syndrome
Hyperactivity, Micrognathia, Seizure, Fused cervical vertebrae, Hip dysplasia, Thick vermilion bo... ORPHA:530983
Pontocerebellar Hypoplasia, Type 1B
Seizure, Tongue atrophy, Hip dislocation, Tongue fasciculations OMIM:614678
Childhood Disintegrative Disorder
Seizure, Abnormal repetitive mannerisms ORPHA:168782
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... OMIM:311200
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Macrodontia, Proximal placement of thumb, Protruding tongue, Diastema, Agg... OMIM:212066
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Cleft upper lip, Aggressive behavior, Cleft palate, Seizure, Bifid uvula OMIM:300958
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Tics, Compulsive behaviors, Short palm, Clinodactyly of the 5th finger, Bran... ORPHA:261330
Mulibrey Nanism
Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu... OMIM:253250
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abnormal rib morphology, Cleft pal... ORPHA:2167
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, Hamartoma of... OMIM:269860
Christianson Syndrome
Generalized-onset seizure, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnorm... ORPHA:85278
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Skin-picking, Abnormal repe... OMIM:600430
Congenital Disorder Of Glycosylation, Type Iig
Micrognathia, Glossoptosis, High palate, Squared iliac bones, Rib fusion, Ulnar deviation of fing... OMIM:611209
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Focal seizure with eyelid... ORPHA:2752
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Infantile spasms, Protruding tongue, Aggressive behavior, T... ORPHA:72
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... OMIM:192445
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s... OMIM:619428
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Agnathia-Otocephaly Complex
Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Narrow mouth, Mandibular aplasia, Microg... OMIM:202650
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... OMIM:613091
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Seizure, Slender long bone, Ankylo... OMIM:602361
Frontorhiny
Encephalocele, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, C... ORPHA:391474
Hypoglossia With Situs Inversus
Micrognathia, High palate, Hypodontia, Narrow mouth, Microglossia OMIM:612776
Stuve-Wiedemann Syndrome 1
Enlarged joints, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth to... OMIM:601559
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Micrognathia, Myoclonic seizure, High palate, Microdontia, Abnormal r... OMIM:619777
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Protruding tongue, Prominent crus of helix, Tapered finger, Stereotypical ... OMIM:617804
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Microgn... ORPHA:1908
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Down-sloping shoulders, Tonic seizure, Micrognat... OMIM:301091
Hijazi-Reis Syndrome
Seizure, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Plummer-Vinson Syndrome
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Na... ORPHA:54028
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, 2-3 toe cutaneous syndactyly, Seizu... OMIM:620242
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Generalized-onset seizure, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long ... OMIM:618265
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M... OMIM:105830
Developmental And Epileptic Encephalopathy 80
Death in infancy, Tented upper lip vermilion, Protruding tongue, Micrognathia, Tapered finger, Wi... OMIM:618580
Tetraamelia Syndrome 2
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia OMIM:618021
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin... ORPHA:2001
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Seizure, Hip dysplasia... ORPHA:531151
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Central Y-shaped metacarpal... ORPHA:2754
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Exaggerated cupid's bow, Toe sy... OMIM:619720
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Foca... ORPHA:163681
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Tonic seizure, Aggressive be... OMIM:620075
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... OMIM:605282
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Hyperactivity, Hyperextensibility of the finger joints, Dental crowding... OMIM:309520
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Cleft pal... OMIM:269250
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin... OMIM:117650
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... ORPHA:2750
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... OMIM:268310
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Missing ribs, Abno... ORPHA:2759
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Finger syndactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Ov... ORPHA:464738
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani... ORPHA:364577
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... OMIM:228520
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Abnormal temper tantrums, A... ORPHA:449291
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Galloway-Mowat Syndrome 6
Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:228384
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Adenylosuccinase Deficiency
Thin upper lip vermilion, Hyperactivity, Prominent metopic ridge, Aggressive behavior, Wide mouth... OMIM:103050
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft palate, Ulnar deviat... ORPHA:1358
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... OMIM:305620
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms ORPHA:3306
Rauch-Steindl Syndrome
Hyperactivity, Miscarriage, Aggressive behavior, Prominent crus of helix, Micrognathia, Thin verm... OMIM:619695
Mandibuloacral Dysplasia
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Shor... ORPHA:2457
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:529965
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... OMIM:608670
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Micrognathia, Hydrocephalus, Cleft palate, Seizure, Hydranencephaly, Intrauterine growth retardat... OMIM:225790
Raine Syndrome
Mandibular prognathia, Natal tooth, Death in infancy, Bowing of the long bones, Protruding tongue... OMIM:259775
Achondrogenesis, Type Ii
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Cle... OMIM:200610
Catel-Manzke Syndrome
Joint dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... OMIM:616145
Seckel Syndrome 2
Microdontia, Microglossia, Clinodactyly of the 5th finger, Micrognathia OMIM:606744
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cle... ORPHA:63862
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Gait disturbance, Compulsive behav... OMIM:300986
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Myoclonic seizure, Abnormal repetitive mannerisms, Infantile spasms, Dysphagia ORPHA:572013
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure, Gait disturbance, Abnormal repetitive mannerisms, Self-m... ORPHA:457240
Developmental And Epileptic Encephalopathy 31B
Multifocal seizures, Infantile spasms, Protruding tongue, Clonic seizure, Gingival overgrowth, My... OMIM:620352
Hydrolethalus
Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Hydrocephalus, Anencephaly... ORPHA:2189
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Encephalocele, Branchial fist... ORPHA:861
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, Seizure, High palate, Malar flattening,... OMIM:618874
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Hyperactivity, Short metacarpal, Short metatarsal, Advanced ossification o... OMIM:614613
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Attention deficit hyperactivity disorder, Dysphagia, Limb ... ORPHA:276198
Pallister-Hall Syndrome
Anteriorly placed anus, Holoprosencephaly, Neonatal death, Syndactyly, Mesoaxial foot polydactyly... OMIM:146510
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Widely patent fontanelles and sutures, Micrognathia, Posta... ORPHA:2886
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, Seizure, High pala... OMIM:616449
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Compulsive behaviors, Abnormal repetitive ma... OMIM:618430
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Alazami Syndrome
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... ORPHA:319671
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Narrow mouth,... ORPHA:1790
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... OMIM:235510
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Bilateral tonic-clonic seizure, Protruding tongue, Diastema, Absent fronta... OMIM:301040
Snijders Blok-Campeau Syndrome
Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention deficit hyperacti... OMIM:618205
Au-Kline Syndrome
Prominent metopic ridge, Overlapping toe, Sagittal craniosynostosis, Postaxial polydactyly, Crani... OMIM:616580
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Aggre... ORPHA:85293
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Seizure, Myo... OMIM:300672
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... OMIM:119600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Prominent metopic ridge, Craniosynostosis, Cleft palate, Furrowed tongue, Downturned corners of m... ORPHA:453499
Developmental And Epileptic Encephalopathy 64
Inability to walk, Self-injurious behavior, Seizure, Status epilepticus, Bruxism, Abnormal repeti... OMIM:618004
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Overlapping toe, Rocker bottom foot, Tapered finger, 4-5 toe ... ORPHA:488642
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L... ORPHA:2211
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis... OMIM:251230
Carey-Fineman-Ziter Syndrome 1
Micrognathia, Tapered finger, Trismus, Pierre-Robin sequence, Cleft palate, Glossoptosis, Seizure... OMIM:254940
13Q12.3 Microdeletion Syndrome
Thin upper lip vermilion, Hyperactivity, Oligodontia, Hip dysplasia, Camptodactyly, Intrauterine ... ORPHA:412035
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, Dysphagia, Abnormal repetiti... OMIM:617802
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Tented upper lip vermilion, Bilateral tonic-clonic seizure, Tonic seizure, Clonic ... OMIM:617281
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615108
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Seizure, Hand polydactyly, High ... ORPHA:250989
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Athetosis, Seizure, Self-mutilation ORPHA:52503
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:397612
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, ... OMIM:611134
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Syndactyly, Hyperactivity, Abnormality of the dentition, Wide mouth, Focal... OMIM:618505
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Tonic seizure, Inability to walk, Repetitive compulsive behavior, Generalized non-motor (... OMIM:300260
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Encephalocele, S... OMIM:108720
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... ORPHA:3241
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifid uvula, Exa... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifid uvula, Exa... ORPHA:352665
Rett Syndrome
Inability to walk, Seizure, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive ... ORPHA:778
Pilarowski-Bjornsson Syndrome
Seizure, Abnormal repetitive mannerisms OMIM:617682
Spondyloepiphyseal Dysplasia Congenita
Short femur, Limited elbow movement, Micrognathia, Upper limb undergrowth, Flat acetabular roof, ... ORPHA:94068
Down Syndrome
Aganglionic megacolon, Sandal gap, Protruding tongue, Abnormality of the dentition, Thick lower l... ORPHA:870
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... ORPHA:1106
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Short 4th toe, Micro... OMIM:615873
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Van Den Ende-Gupta Syndrome
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Seizure, High palate... OMIM:618106
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Meningocele, Seizure ORPHA:2031
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Protruding tongue, Abnormal thumb morphology, Seizure, Everted lower lip v... ORPHA:324410
Ring Chromosome 22 Syndrome
Protruding tongue, 2-3 toe syndactyly, Seizure, Inappropriate behavior, Thick vermilion border ORPHA:1446
Mucopolysaccharidosis, Type Iiib
Seizure, Hyperactivity, Aggressive behavior OMIM:252920
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Holoprosencephaly, Advanced eruption of teeth, Finger ... ORPHA:818
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... OMIM:165590
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615109
Histidinemia
Hyperactivity ORPHA:2157
Charcot-Marie-Tooth Disease, Type 4C
Hammertoe, Tongue atrophy, Tongue fasciculations OMIM:601596
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Seizure, Myoclonus, Dysphagia, Generalized myoclonic seiz... ORPHA:93399
Distal Duplication 17Q
Hallux valgus, Thin upper lip vermilion, Hyperactivity, Arachnodactyly, Overlapping toe, Microgna... ORPHA:3379
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Broad hallux, Protruding tongue, Micrognathia, Umbilical hernia, High p... OMIM:617062
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... OMIM:151050
Hallermann-Streiff Syndrome
Natal tooth, Hyperactivity, Bilateral tonic-clonic seizure, Selective tooth agenesis, Spina bifid... OMIM:234100
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Micrognathia, Cleft lip, Clinodactyly, Dental malocclusion, Gingival overgrowth, Clef... OMIM:616894
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Prot... OMIM:175500
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, At... OMIM:619435
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence... ORPHA:97360
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Slender long ... ORPHA:561
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Seizure, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Lelis Syndrome
Carious teeth, Mandibular prognathia, Hypodontia, Furrowed tongue ORPHA:140936
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Overlapping fingers, Protruding tongue, Micrognathia, Seizure, Thick vermilion ... OMIM:608779
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth... ORPHA:2108
22Q11.2 Duplication Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... ORPHA:1727
Icf Syndrome
Communicating hydrocephalus, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Umbili... ORPHA:2268
Autosomal Dominant Robinow Syndrome
Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of m... ORPHA:3107
Marshall-Smith Syndrome
Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto... OMIM:602535
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Malar flattening OMIM:242860
Hereditary Folate Malabsorption
Seizure, Glossitis, Cheilitis, Anorexia ORPHA:90045
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Broad hallux, Hamartoma of tongue, Micro... OMIM:615948
Joubert Syndrome 1
Hemifacial spasm, Hyperactivity, Protruding tongue, Aggressive behavior, Postaxial hand polydacty... OMIM:213300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... OMIM:619950
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Gingival overgrowth, Seizure, Long philtrum, Febrile seizure (within the age r... OMIM:619179
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... ORPHA:2753
Distal Deletion 15Q
Thin upper lip vermilion, Abnormality of the dentition, Micrognathia, 2-3 toe cutaneous syndactyl... ORPHA:1596
Hartnup Disease
Seizure, Glossitis, Gingivitis, Malabsorption ORPHA:2116
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Myoclonic s... OMIM:619512
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Protruding tongue, Micrognathia, High, narrow palate, Cubitus valgus, Metatar... OMIM:214100
Psoriasis 14, Pustular
Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue OMIM:614204
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Bowing of the legs, Beaded ribs, Pr... OMIM:200600
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Seizure, Stomatitis, Intrauterine growth retardation, Glossitis ORPHA:79284
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... ORPHA:769
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Hydrocephalus, Abno... ORPHA:77301
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty... OMIM:300963
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:158350
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... ORPHA:2907
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Aplastic clavicle, Micrognathia, Protrud... ORPHA:50945
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Dysphagia, Ankle clonus, Tongue fasciculations, Death in childhood OMIM:211530
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper tantrums, Abnorm... OMIM:619103
Maternal Phenylketonuria
Hyperactivity, Micrognathia, Bifid distal phalanx of the thumb, Esophageal atresia, Seizure, High... ORPHA:2209
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca... ORPHA:1934
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial f... OMIM:249000
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Microglossia, Holoprosencephaly, Narrow mouth ORPHA:990
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:614153
Congenital Sialidosis Type 2
Protruding tongue, Hydrocephalus, Gingival overgrowth, Seizure, Polydactyly, Myoclonus, Umbilical... ORPHA:93400
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Dysphagia OMIM:610217
X-Linked Agammaglobulinemia
Glossoptosis, Sinusitis, Arthritis, Malabsorption ORPHA:47
Mend Syndrome
Hyperactivity, Broad hallux, Overlapping toe, Asymmetry of the mouth, Aggressive behavior, Microg... ORPHA:401973
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micrognathia, Aplasia of the ulna, High, narrow palate, ... ORPHA:2879
Stickler Syndrome
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Glossoptosis, Advance... ORPHA:828
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Distal Deletion 12Q
Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Cl... ORPHA:96149
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Micrognathia, Cleft lip, Furrowed tongue, Seizure, Hip dysplasia, High palate, Broad ... OMIM:616975
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... OMIM:211350
Myopathy, Myofibrillar, 7
Tongue atrophy, Elbow flexion contracture, Shoulder flexion contracture, Dysphagia OMIM:617114
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Seizure, Gait disturbance, Attention deficit hyperactivity... OMIM:300352
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Protruding tongue, Generalized non-motor (absence) seizure, Downturned corners o... ORPHA:96147
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Coxa valga, Narrow mouth, Gingival overgrowth, Dysphagia, Generalized myocloni... OMIM:230600
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid stern... ORPHA:63260
Microcephaly 29, Primary, Autosomal Recessive
Seizure, Hyperactivity, Ataxia OMIM:620047
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m... ORPHA:3472
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Overlapping toe, Protruding tongue, Deep philtrum, P... ORPHA:99843
Smith-Lemli-Opitz Syndrome
Dental crowding, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Holopro... OMIM:270400
Acrodermatitis Enteropathica
Anorexia, Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Infantile spasms, Protruding tongue OMIM:618797
Meckel Syndrome
Encephalocele, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial... ORPHA:564
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... OMIM:309580
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... OMIM:263520
Opitz Gbbb Syndrome
Natal tooth, Prominent metopic ridge, Craniosynostosis, Micrognathia, Cleft lip, Tracheoesophagea... ORPHA:2745
Mend Syndrome
Microretrognathia, Hyperactivity, Broad hallux, Overlapping toe, Micrognathia, Long fingers, Hydr... OMIM:300960
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Clonic seizure, Short philtrum, High palate, Tics, Compulsive behaviors, Abn... OMIM:619475
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... ORPHA:434179
Argininemia
Seizure, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Myoclonic spasms, ... ORPHA:447997
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Myoclonus, Protruding tongue ORPHA:53351
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact... OMIM:610829
Rett Syndrome, Congenital Variant
Tongue thrusting, Athetosis, Seizure, Bruxism, Abnormal repetitive mannerisms OMIM:613454
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Chand Syndrome
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... ORPHA:1401
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Protruding tongue, Focal-onset seizure, Generalized n... ORPHA:258
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Self-mutilation, L... ORPHA:1051
Bilateral Perisylvian Polymicrogyria
Infantile spasms, Protruding tongue, Micrognathia, Focal-onset seizure, Seizure, Pseudobulbar par... ORPHA:98889
Tetrasomy 9P
Joint dislocation, Dental crowding, Micrognathia, Downturned corners of mouth, Inappropriate beha... ORPHA:3310
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Tented upper lip vermilion, Cleft upper lip, Long fingers, Cleft palate, Thin verm... OMIM:614294
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short palm, Hyperactivity, Bilateral tonic-clonic seizure, Hiatus hernia, Aggressive behavior, Ge... OMIM:614756
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Communicating hydrocephalus, Short fourth metatarsal, Micrognathia, Widely... OMIM:619841
Pallister-Hall Syndrome
Holoprosencephaly, Paroxysmal bursts of laughter, Bifid uvula, Microretrognathia, Mesoaxial polyd... ORPHA:672
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Elbow flexion contracture, Knee flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia OMIM:148210
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Ne... OMIM:612289
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis OMIM:277380
Fraser Syndrome
Encephalocele, Death in infancy, Anal stenosis, Finger syndactyly, Dental crowding, Toe syndactyl... ORPHA:2052
Stüve-Wiedemann Syndrome
Bowing of the long bones, Camptodactyly of finger, Abnormality of the dentition, Trismus, Metaphy... ORPHA:3206
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Tongue atrophy, Flexion contracture of finger ORPHA:101085
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, Frequen... OMIM:619575
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Niemann-Pick Disease, Type C2
Seizure, Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Branchiooculofacial Syndrome
Proximal placement of thumb, Abnormality of the dentition, Malrotation of colon, Cleft upper lip,... OMIM:113620
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Bilateral tonic-c... ORPHA:2388
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Infantile spasms, Hydrocephalus, Seizure, Stomatitis, Intrauterine growth retardation, Glossitis,... ORPHA:79282
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dysphagia, Narrow mouth, ... ORPHA:89842
Giant Cell Arteritis
Arthritis, Glossitis, Anorexia ORPHA:397
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow... OMIM:312870
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Micrognathia, Small hand, Fibular hypoplasia, Downturned corners of mou... ORPHA:444077
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Generalized Pustular Psoriasis
Arthritis, Geographic tongue, Cheilitis ORPHA:247353
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Broad hallux, Micrognathia, Carious teeth,... OMIM:620186
Charcot-Marie-Tooth Disease Type 4C
Tongue atrophy, Hip dysplasia, Hammertoe, Tongue fasciculations, Difficulty in tongue movements ORPHA:99949
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Neuroocular Syndrome
Hyperextensibility of the finger joints, Prominent fingertip pads, Genu recurvatum, Tapered finge... OMIM:619539
Down Syndrome
Short palm, Aganglionic megacolon, Sandal gap, Protruding tongue, Duodenal stenosis, Macroglossia... OMIM:190685
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy, Flexion contracture of finger, Seizure, Congenital finger flexion contractures, J... ORPHA:466768
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Degcags Syndrome
Oral-pharyngeal dysphagia, Micrognathia, High palate, Syndactyly, Hiatus hernia, Short thumb, Thi... OMIM:619488
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters ORPHA:79396
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Limitation of movement at ankles, Short lingual frenulum, Dental crowd... ORPHA:740
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr... OMIM:619472
Cowden Syndrome
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Seizure, Colorectal polyposis, High palat... ORPHA:201
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,... OMIM:620330
Nmda Receptor Encephalitis
Generalized-onset seizure, Hypersexuality, Focal-onset seizure, Choreoathetosis, Seizure, Agitati... ORPHA:217253
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Furrowed tongue OMIM:158310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Short palm, Cleft upper lip, Micrognathia, Esophageal atresia, Abnormal pelvis bone ossification,... ORPHA:93271
Agel Amyloidosis
Tongue atrophy, Xerostomia ORPHA:85448
Microsporidiosis
Seizure, Sinusitis, Glossitis, Anorexia ORPHA:2552
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Micrognathia, Cleft palate, High palate, Sh... OMIM:607932
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess OMIM:600145
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Prominent metopic ri... ORPHA:2729
Glucagonoma
Intestinal obstruction, Anorexia, Steatorrhea, Stomatitis, Glossitis ORPHA:97280
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis ORPHA:653
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Dysphagia, Narrow mou... ORPHA:79408
Kawasaki Disease
Arthritis, Glossitis, Cheilitis ORPHA:2331
Plague
Chapped lip, Anorexia, Abnormality of the elbow, Enterocolitis, Arthritis, Inflammation of the la... ORPHA:707
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Ankyloglossia, Micrognathia OMIM:619525
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... ORPHA:1359

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 Impa1

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 Impa1.

No publications found that use IMPC mice or data for Impa1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Impa1tm371339(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Impa1tm1e(EUCOMM)Hmgu 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