Gene Summary

Name:
epithelial splicing regulatory protein 1
Synonyms:
2210008M09Rik,  Rbm35a

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
decreased bone mineral density Esrp1em1(IMPC)Mbp HET   Early adult 1.47×10-05
decreased bone mineral content Esrp1em1(IMPC)Mbp HET Early adult 3.62×10-05
enlarged kidney Esrp1em1(IMPC)Mbp HET Early adult 0.00
abnormal ovary morphology Esrp1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Esrp1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal kidney morphology Esrp1em1(IMPC)Mbp HET Early adult 0.00
cleft palate Esrp1em1(IMPC)Mbp HOM E15.5 0.00
small kidney Esrp1em1(IMPC)Mbp HET Early adult 0.00
abnormal craniofacial morphology Esrp1em1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Esrp1 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 Esrp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 109
OMIM:618013

The table below shows human diseases predicted to be associated to Esrp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Torus Palatinus And Torus Mandibularis
Abnormality of the mouth, Torus palatinus OMIM:189700
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Syngnathia
Cleft palate OMIM:119550
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Telecanthus
Bilateral cleft lip and palate, Anodontia OMIM:187350
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Irregular dentition, Cleft lower lip, Cleft upper lip, Median cleft lip ORPHA:401942
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Orofacial Cleft 14
Median cleft lip OMIM:615892
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder, Speech apraxia OMIM:245570
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate OMIM:223200
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Motor tics OMIM:300830
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Cleft palate OMIM:300263
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Dystonia, Paroxysmal dyskinesia OMIM:611031
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Macrosomia With Microphthalmia, Lethal
Median cleft palate OMIM:248110
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Immunodeficiency 8
Hyperactivity OMIM:615401
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cleft palate OMIM:120433
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
X-Linked Intellectual Disability, Siderius Type
Oral cleft, Cleft upper lip ORPHA:85287
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip ORPHA:2007
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Gilles De La Tourette Syndrome
Phonic tics, Attention deficit hyperactivity disorder, Motor tics OMIM:137580
Gonadal Dysgenesis, Xy Type, With Associated Anomalies
Oral cleft, Cleft upper lip OMIM:233430
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Thomas Syndrome
Cleft upper lip, Cleft palate ORPHA:3316
Nemaline Myopathy 9
High palate, Cleft palate OMIM:615731
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate ORPHA:2736
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Diprosopus
Non-midline cleft lip, Cleft palate ORPHA:1681
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Sprengel Deformity
Cleft palate ORPHA:3181
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2521
Rosselli-Gulienetti Syndrome
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia OMIM:225000
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate ORPHA:85273
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Poor coordination, Ataxia, Broad-based gait OMIM:617665
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Parc Syndrome
Cleft palate OMIM:600331
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Mmep Syndrome
Oral cleft, Median cleft lip ORPHA:3434
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Periventricular Nodular Heterotopia 8
Attention deficit hyperactivity disorder, Spasticity OMIM:618185
Mental Retardation, Autosomal Recessive 37
Spasticity, Hyperactivity OMIM:615493
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Arthrogryposis, Distal, Type 1C
Pursed lips, Thin vermilion border, Narrow mouth, Cleft lip, Cleft palate, Bifid uvula, High palate OMIM:619110
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Microphthalmia, Syndromic 8
Oral cleft, Widely-spaced maxillary central incisors, Cleft upper lip, Cleft palate OMIM:601349
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Childhood Apraxia Of Speech
High, narrow palate, Drooling, Submucous cleft hard palate ORPHA:209908
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Cleft palate DECIPHER:46
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Cleft palate ORPHA:2476
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Hyperactivity ORPHA:356996
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Intestinal malrotation, Bilateral cleft lip and palate, Cleft upper lip OMIM:601165
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Cleft palate OMIM:601016
Coffin-Siris Syndrome 11
Downturned corners of mouth, Wide mouth, Esophageal atresia, Bifid uvula, High palate, Cleft soft... OMIM:618779
Adducted Thumbs Syndrome
High palate, High, narrow palate, Velopharyngeal insufficiency, Cleft palate OMIM:201550
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Hemifacial Microsomia With Radial Defects
Oral cleft, Cleft palate, Non-midline cleft lip, Short mandibular rami OMIM:141400
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Smooth philtrum, Abnormality of the dentition, Thin upper lip vermilion,... ORPHA:576283
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Increased bone mineral density ORPHA:75325
Genitopalatocardiac Syndrome
Cleft upper lip, Cleft palate OMIM:231060
Pai Syndrome
Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate ORPHA:1993
Stickler Syndrome, Type Ii
Bifid uvula, High, narrow palate, Pierre-Robin sequence, Cleft palate OMIM:604841
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Cleft palate ORPHA:2015
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Dystonia, Juvenile-Onset
Cleft upper lip, Cleft palate OMIM:607371
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Cleft palate ORPHA:294975
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia OMIM:225060
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Non-midline cleft lip, Tooth agenesis ORPHA:1406
Mental Retardation, Autosomal Recessive 13
Short philtrum, Cleft upper lip, Smooth philtrum, Downturned corners of mouth OMIM:613192
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Abnormality of the dentition, Thin upper lip vermilion, Triangula... OMIM:616331
Birk-Barel Syndrome
Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion, Bifid uvula, High palate OMIM:612292
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Orofaciodigital Syndrome Viii
High palate, Median cleft lip, Cleft palate OMIM:300484
Keratoconus Posticus Circumscriptus
Cleft upper lip, Cleft palate OMIM:244600
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity ORPHA:100973
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Chromosome 22Q11.2 Duplication Syndrome
High palate, Velopharyngeal insufficiency OMIM:608363
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Cleft upper lip, Cleft palate, Bifid uvula OMIM:608572
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Zimmermann-Laband Syndrome 3
Bifid uvula, High palate, Thick lower lip vermilion, Gingival overgrowth OMIM:618658
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cleft palate OMIM:214300
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, High palate, Cleft upper lip, Cleft palate OMIM:602418
16P11.2P12.2 Microduplication Syndrome
Cleft palate ORPHA:261204
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Parkinsonism, Attention d... OMIM:617384
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Acrofacial Dysostosis, Palagonia Type
Unilateral cleft lip, Oligodontia, Cleft upper lip OMIM:601829
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy OMIM:619150
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Temple Syndrome
Bifid uvula, High palate, Short philtrum, Cleft palate OMIM:616222
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate OMIM:613885
Neu-Laxova Syndrome 2
High palate, Cleft palate OMIM:616038
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Dystonia, Stereotypical hand wringing OMIM:618760
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Cleft palate OMIM:300958
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Limb-Mammary Syndrome
Bifid uvula, Cleft palate, Hypodontia OMIM:603543
Intellectual Disability, Wolff Type
Oral cleft, Abnormal intestine morphology, Thick lower lip vermilion, Non-midline cleft lip ORPHA:3080
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Supernumerary tooth, Bifid uvula, High palate, Thick lower lip... OMIM:617412
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Pallister-Hall-Like Syndrome
Microglossia, Death in infancy, Median cleft lip, Cleft palate OMIM:241800
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Deep philtrum, Death in infancy, Smooth philtrum, Tented u... OMIM:618622
Mesomelic Limb Shortening And Bowing
Cleft palate OMIM:249710
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Cleft palate OMIM:244200
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft upper lip, Cleft palate OMIM:609654
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Smooth philtrum OMIM:614526
Zechi-Ceide Syndrome
Oligodontia, Cleft upper lip, Cleft palate OMIM:612916
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Cleft palate ORPHA:398189
Neuralgic Amyotrophy
Narrow mouth, Cleft palate ORPHA:2901
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Stereotypy, Spasticity OMIM:617393
Familial Hyperprolactinemia
Osteoporosis, Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Phenobarbital Embryopathy
Unilateral cleft lip ORPHA:1919
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Cleft palate OMIM:241850
Gordon Syndrome
High palate, Cleft palate ORPHA:376
Mental Retardation, Autosomal Recessive 39
Stereotypy, Hyperactivity OMIM:615541
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Tented upper lip vermilion, Cleft palate OMIM:614294
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate OMIM:611561
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cleft palate OMIM:300261
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Autosomal Recessive Amelia
Oral cleft, Non-midline cleft lip ORPHA:1027
Premature Ovarian Failure 2B
Osteoporosis, Premature ovarian insufficiency OMIM:300604
Mental Retardation, Autosomal Recessive 14
Narrow palate OMIM:614020
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Wide mouth, Bifid uvula, High palate, Microdontia, Widely spaced teeth, Accessory o... OMIM:266920
Sotos Syndrome 3
Hyperactivity OMIM:617169
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Cleft palate OMIM:612530
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Hy... ORPHA:248111
Joubert Syndrome 26
Cleft lip, Cleft palate OMIM:616784
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Non-midline cleft lip, Cleft palate ORPHA:2725
Diamond-Blackfan Anemia 6
Bifid uvula, Cleft upper lip, Cleft palate OMIM:612561
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Stage 5 chronic kidney disease, Abnormality of bone min... ORPHA:3156
Hartsfield Syndrome
Non-midline cleft lip, Cleft palate ORPHA:2117
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Pancreatic cysts, Hepatomegaly, Absence of renal co... OMIM:263200
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Cleft upper lip, Cleft palate, Conic... OMIM:129400
Isolated Dandy-Walker Malformation
Cleft palate ORPHA:217
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Oral cleft, Incomplete cleft of the upper lip, Intestinal malrotation, Deep philtrum ORPHA:77300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short philtrum, Narrow mouth, Cleft palate, Bifid uvula, High palate, Pyloric stenosis ORPHA:96184
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft palate, Cleft upper lip, Tooth agenesis OMIM:147950
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, Tented upper lip vermilion, Cleft palate OMIM:600987
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Blepharocheilodontic Syndrome 1
Conical tooth, Anal atresia, Cleft upper lip, Hypodontia OMIM:119580
Hydrolethalus
Gingival cleft, Unilateral cleft lip, Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2189
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Cleft palate ORPHA:1779
Idiopathic Hypercalciuria
Renal calcium wasting, Osteoporosis, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteopenia ORPHA:2197
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Myoclonus, Stereotypy, Babinski sign, Rigidity OMIM:600795
Abruzzo-Erickson Syndrome
Cleft palate OMIM:302905
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate ORPHA:1104
Schisis Association
Unilateral cleft lip, Anal atresia, Tracheoesophageal fistula, Cleft palate ORPHA:63862
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity OMIM:604317
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Glossoptosis, Cleft palate ORPHA:166100
Orofaciodigital Syndrome Vi
Tongue nodules, Cleft upper lip, Cleft palate, High palate, Accessory oral frenulum OMIM:277170
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Increased overbite, Cleft lip, Cleft... OMIM:618761
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth OMIM:183300
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Pierre-Robin sequence, Cleft palate OMIM:184840
Blepharonasofacial Malformation Syndrome
Long philtrum, Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1252
Orofaciodigital Syndrome Xi
Cleft palate OMIM:612913
Juberg-Hayward Syndrome
Anteriorly placed anus, Cleft upper lip OMIM:216100
Holoprosencephaly 4
Median cleft lip and palate, Median cleft lip OMIM:142946
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Cleft upper lip, Cleft palate OMIM:239800
Opitz Gbbb Syndrome, Type I
Smooth philtrum, Thin upper lip vermilion, Anal atresia, Cleft upper lip, Cleft palate, High palate OMIM:300000
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasti... OMIM:618917
Cardiocranial Syndrome, Pfeiffer Type
Bifid uvula, Broad philtrum, High, narrow palate ORPHA:2872
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Joint hyperflexibility, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Unilateral cleft palate, Submucous cleft hard palate OMIM:619122
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft lip and palate, Cleft upper lip OMIM:601357
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Cleft upper lip, Cleft palate OMIM:607597
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Cleft palate OMIM:601076
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... OMIM:614669
Schilbach-Rott Syndrome
Bifid uvula, Narrow mouth, Submucous cleft hard palate OMIM:164220
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Dental crowding, Cleft palate, Bifid uvula, High, narrow palate, Thick lower lip ... OMIM:309583
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Cleft palate, High palate, Median cleft lip, Accessory oral frenulum OMIM:258865
Rudiger Syndrome
Ovarian cyst, Ureterovesical stenosis, Flexion contracture, Bicornuate uterus, Micropenis OMIM:268650
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Abnormal palate morphol... ORPHA:2712
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, P... ORPHA:730
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Hamart... ORPHA:137888
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Hypoplasia of the ovary, Premature ovarian insufficiency, Osteoscle... OMIM:609993
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft lip, Cleft palate ORPHA:2165
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia, Hyperactivity OMIM:300983
Buratti-Harel Syndrome
Bifid uvula, High palate, Velopharyngeal insufficiency, Submucous cleft hard palate OMIM:619314
Bamforth-Lazarus Syndrome
Cleft palate ORPHA:1226
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:915
Stickler Syndrome Type 2
Cleft palate ORPHA:90654
Distal Monosomy 10P
Ectopic anus, Anal atresia, Non-midline cleft lip, Cleft palate ORPHA:1580
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Bilateral cleft lip OMIM:618021
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Bilateral cleft lip and palate, Non-midline cleft lip, Tooth agenesis ORPHA:2003
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Hypodontia, Anterior open-bite malocclusion, Sup... ORPHA:3473
Temple Syndrome
Bifid uvula ORPHA:254516
Isolated Cleft Lip
Macrodontia, Non-midline cleft lip, Hypodontia, Supernumerary maxillary incisor, Velopharyngeal i... ORPHA:199302
Distal Monosomy 7Q36
Wide mouth, Non-midline cleft lip, Cleft palate ORPHA:1636
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Stereotypy, Hyperactivity OMIM:609425
Acrorenal Syndrome
Cleft palate ORPHA:971
Oculomaxillofacial Dysostosis
Abnormality of the dentition, Median cleft lip, Cleft palate ORPHA:1794
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Hypodontia, Bifid uvula, High palate, Dental malocclusion OMIM:612350
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft lip, Cleft palate ORPHA:3429
Fetal Akinesia Deformation Sequence 2
High palate, Tented upper lip vermilion, Cleft palate OMIM:618388
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:614838
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Arthrogryposis, Distal, Type 3
Bifid uvula, High palate, Submucous cleft hard palate, Cleft palate OMIM:114300
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip OMIM:616788
Treacher Collins Syndrome 3
Cleft palate OMIM:248390
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Narrow mouth, Cleft palate ORPHA:93946
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
1Q41Q42 Microdeletion Syndrome
Thick vermilion border, Submucous cleft hard palate, Cleft palate ORPHA:250999
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Glycine Encephalopathy
Lethargy, Myoclonus, Hyperactivity OMIM:605899
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Trisomy 8Q
Everted lower lip vermilion, Non-midline cleft lip, Oral cleft, Bifid tongue, Cleft palate, Abnor... ORPHA:1752
W Syndrome
Agenesis of maxillary central incisor, Broad uvula, Upper lip pit, Submucous cleft hard palate ORPHA:2804
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Naxos Disease
Cleft upper lip ORPHA:34217
Hyperparathyroidism 4
Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Primary hyperparathyroidism OMIM:617343
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Difficulty walking, Waddling gait, Stereotypy, Babinski sign, Progressive spastic parap... ORPHA:280763
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Downturned corners of mouth, Deep philtrum, Intestinal malrotation, Smooth philtru... ORPHA:404440
Treacher Collins Syndrome 2
Cleft palate OMIM:613717
Lymphatic Malformation 5
Cleft palate OMIM:153200
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Macroglossia, Cleft palate OMIM:612938
Autosomal Recessive Centronuclear Myopathy
Bifid uvula, High palate, Narrow mouth ORPHA:169186
Catel-Manzke Syndrome
High palate, Glossoptosis, Cleft upper lip, Cleft palate OMIM:616145
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate OMIM:609166
Acromelic Frontonasal Dysostosis
U-Shaped upper lip vermilion, Cleft upper lip, Cleft palate OMIM:603671
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
Stickler Syndrome, Type I
Bifid uvula, Pierre-Robin sequence, Submucous cleft hard palate, Cleft palate OMIM:108300
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cleft palate OMIM:614880
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Glycogen Storage Disease Ia
Osteoporosis, Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtratio... OMIM:232200
Mental Retardation With Language Impairment And With Or Without Autistic Features
Stereotypy, Attention deficit hyperactivity disorder, Speech apraxia OMIM:613670
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Short philtrum, Downturned corners of mouth, Cleft palate ORPHA:94066
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Diaphanospondylodysostosis
Nephroblastomatosis, Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Absent in utero r... OMIM:608022
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, High palate, Villous atrophy OMIM:601110
Frontonasal Dysplasia 1
Median cleft palate, Widely-spaced maxillary central incisors, Median cleft lip OMIM:136760
Acrofrontofacionasal Dysostosis
High palate, Everted lower lip vermilion, Non-midline cleft lip, Cleft palate ORPHA:1784
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy, Attention deficit hyperactivity disorder OMIM:617044
Coloboma Of Macula And Skeletal Anomalies
Cleft palate OMIM:216800
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Hypertonia, Lethargy, Hyperactivity OMIM:274270
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy, Attention deficit hyperactivity disorder OMIM:618906
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Oculoauriculovertebral Spectrum With Radial Defects
Wide mouth, Non-midline cleft lip, Oral cleft, Ectopic anus, Cleft palate, Short mandibular rami ORPHA:2549
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Fetal Alcohol Syndrome
Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Cleft palate, Microdontia ORPHA:1915
Glycogen Storage Disease Ib
Osteoporosis, Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtratio... OMIM:232220
Hyperphosphatasia With Mental Retardation Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Cleft palate OMIM:615716
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Cleft palate OMIM:246560
Meckel Syndrome, Type 6
Cleft upper lip, Cleft palate OMIM:612284
Solitary Median Maxillary Central Incisor
Solitary median maxillary central incisor, Prominent median palatal raphe, Torus palatinus, Cleft... OMIM:147250
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Cleft palate OMIM:602196
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Enlarged kidney, Recurrent fractures, Membranoproliferative glomerulonephritis,... ORPHA:251004
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Cleft palate ORPHA:2010
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Unilateral cleft lip, Thick lower lip vermilion, Unilateral cleft palate, Submucous c... OMIM:619103
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... OMIM:619317
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Microphthalmia With Limb Anomalies
High palate, Deep philtrum, Cleft upper lip, Cleft palate OMIM:206920
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Drooling, Downturned corners of mouth, Thin upper lip vermilion, B... OMIM:619121
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Non-mi... ORPHA:1071
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Difficulty walking, Limb ataxia, Poor coordination, Spasticity, Ataxia, Stereo... OMIM:617695
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, Tented upper lip vermilion OMIM:616025
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Pierre-Robin sequence, Cleft palate OMIM:614921
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the dentition, Cleft upper lip OMIM:273400
Postaxial Acrofacial Dysostosis
Non-midline cleft lip, Cleft palate ORPHA:246
8Q24.3 Microdeletion Syndrome
Long philtrum, Mesiodens, Smooth philtrum, Thin upper lip vermilion, Cleft maxillary alveolus ORPHA:508488
Culler-Jones Syndrome
Cleft upper lip, Cleft palate OMIM:615849
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Cleft palate OMIM:614701
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Prot... OMIM:608709
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Cri-Du-Chat Syndrome
Short philtrum, Downturned corners of mouth, Oral cleft, Anterior open-bite malocclusion, Bifid u... OMIM:123450
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Non-midline cleft lip, Cleft palate ORPHA:1770
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Urogenital... ORPHA:2138
Holoprosencephaly 3
Solitary median maxillary central incisor, Bifid uvula, Cleft lip, Cleft palate OMIM:142945
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Cleft palate OMIM:268850
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Orofaciodigital Syndrome Type 10
Long philtrum, Cleft soft palate, Accessory oral frenulum ORPHA:2756
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, Stereotypy, S... ORPHA:561854
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Abnormality of the dentition, Irregular dentition, Lobulated tongue, Bifid u... ORPHA:2752
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Cleft palate, High palate, Tooth agenesis ORPHA:1135
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Short philtrum, Smooth philtrum ORPHA:293725
Meckel Syndrome 12
Bifid uvula OMIM:616258
Orofaciodigital Syndrome Xvii
High, narrow palate, Median cleft lip OMIM:617926
Pallister W Syndrome
Broad uvula, Agenesis of maxillary central incisor, Agenesis of central incisor, Submucous cleft ... OMIM:311450
Aase-Smith Syndrome I
Death in infancy, Open mouth, Cleft palate OMIM:147800
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Cleft palate, Bifid uvula, High, narrow palate, Submucous cleft hard p... ORPHA:2780
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Cleft palate ORPHA:96181
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Stereotypy, Hyperactivity, Repetitive compulsive behavior, Cerebral palsy, Attention ... ORPHA:352490
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Cleft palate OMIM:617660
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Hydronephrosis, Polycystic kidney dysplasia, Knee flexion contract... OMIM:608836
8Q22.1 Microdeletion Syndrome
Long philtrum, Abnormality of the dentition, Submucous cleft hard palate ORPHA:178303
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Stereotypy, Spasticity OMIM:612069
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Long philtrum, Thin vermilion border OMIM:241410
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Cleft palate OMIM:312150
H Syndrome
Osteolysis, Azoospermia, Enlarged kidney, Camptodactyly, Recurrent fractures, Decreased testicula... ORPHA:168569
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Enlarged kidney, Sex reversal, Scrotal hypopla... OMIM:612651
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid uvula ORPHA:1790
Tetragametic Chimerism
Cryptorchidism, Ambiguous genitalia, Abnormality of the ovary, Ovotestis, Abnormality of the scro... ORPHA:199310
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Dental crowding, Submucous cleft lip... ORPHA:96170
Shukla-Vernon Syndrome
Stereotypy, Attention deficit hyperactivity disorder, Broad-based gait OMIM:301029
Triopia
Median cleft lip, Cleft palate ORPHA:3374
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Downturned corners of mouth, Abnormal rectum morphology, Aganglionic megacolon, T... OMIM:239300
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, Stereotypy, Upper motor neuron dy... ORPHA:275864
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Baraitser-Winter Syndrome 1
Long philtrum, Wide mouth, Oral cleft, Thin upper lip vermilion, Cleft upper lip OMIM:243310
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Pancreatic cysts, Pancreatic fibrosis, Hepatomegaly, Renal dysplasia, Ureteral a... OMIM:208540
Waardenburg Syndrome Type 1
Cleft upper lip, Aganglionic megacolon, Tented upper lip vermilion, Cleft palate ORPHA:894
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Increased susceptibility to fractures, ... OMIM:612287
Bartsocas-Papas Syndrome
Narrow mouth, Median cleft lip, Cleft palate ORPHA:1234
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling gait, Broad... ORPHA:3077
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Narrow mouth, Dental crowding, Thin upper lip vermilion, Bifid uvula, ... OMIM:300990
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Cleft palate OMIM:153400
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Flexion contracture, Renal tubular atrophy, ... OMIM:617303
Moebius Syndrome
Bifid uvula, High palate, Abnormality of the dentition OMIM:157900
Tyrosinemia, Type I
Enlarged kidney, Hypophosphatemic rickets, Glomerular sclerosis, Hepatomegaly, Splenomegaly, Rena... OMIM:276700
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Nephroblastoma, Enlarged kidney ORPHA:276280
Limb-Mammary Syndrome
Submucous cleft soft palate, Hypodontia, Cleft lip, Cleft palate, Bifid uvula, Cleft hard palate ORPHA:69085
Double Outlet Right Ventricle
Intestinal malrotation, Narrow mouth, Submucous cleft hard palate, Cleft palate ORPHA:3426
Renal Agenesis, Bilateral
Abnormal intestine morphology, Tracheoesophageal fistula, Non-midline cleft lip, Cleft palate ORPHA:1848
Kaposiform Lymphangiomatosis
Multiple renal cysts, Osteolysis, Enlarged kidney, Pancreatic cysts, Fractures of the long bones,... ORPHA:464329
Nager Syndrome
Abnormal palate morphology, Wide mouth, Non-midline cleft lip, Cleft palate ORPHA:245
Myhre Syndrome
Thin vermilion border, Narrow mouth, Gingival cleft, Unilateral cleft lip, Abnormal lip morpholog... ORPHA:2588
16P13.11 Microdeletion Syndrome
Smooth philtrum, Wide mouth, Thin upper lip vermilion, Cleft upper lip, Cleft palate, Exaggerated... ORPHA:261236
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary incontinence, Abnormality of the u... ORPHA:2795
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Cystic renal dysplasia, Enlarged kidney, Pancreatic fibrosis, Hepatomegaly OMIM:200995
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
High palate, Cleft lip OMIM:612702
Axial Osteomalacia
Osteomalacia, Renal cyst, Increased bone mineral density OMIM:109130
Say Syndrome
Cleft palate OMIM:181180
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Increased susceptibilit... OMIM:612286
Loeys-Dietz Syndrome 5
Hiatus hernia, Smooth philtrum, Tented upper lip vermilion, Cleft palate, Bifid uvula, High palat... OMIM:615582
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Triploidy
Macroglossia, Narrow mouth, Intestinal malrotation, Wide mouth, Non-midline cleft lip, Cleft palate ORPHA:3376
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Branchiootorenal Syndrome 1
Intestinal malrotation, Increased overbite, Cleft palate, Bifid uvula, High palate, Microdontia OMIM:113650
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Cleft palate, Bifid uvula, Submucous c... ORPHA:2250
Megalocornea-Mental Retardation Syndrome
Bifid uvula, High palate, Long philtrum OMIM:249310
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate ORPHA:957
Lennox-Gastaut Syndrome
Falls, Myoclonus, Hyperactivity ORPHA:2382
Genitopalatocardiac Syndrome
Non-midline cleft lip, Downturned corners of mouth, Cleft palate ORPHA:2075
Branchio-Oculo-Facial Syndrome
Everted lower lip vermilion, Deep philtrum, Upper lip pit, Non-midline cleft lip, Tooth agenesis,... ORPHA:1297
Hyperphosphatasia With Mental Retardation Syndrome 3
Tented upper lip vermilion, Cleft palate OMIM:614207
Hydrolethalus Syndrome 2
Cleft palate OMIM:614120
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Vulto-Van Silfhout-De Vries Syndrome
Thick lower lip vermilion, Tented upper lip vermilion OMIM:615828
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate OMIM:601355
Autosomal Dominant Popliteal Pterygium Syndrome
Non-midline cleft lip, Lip pit, Thin upper lip vermilion, Fibrous syngnathia, Cleft palate ORPHA:1300
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Snijders Blok-Campeau Syndrome
Speech apraxia, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypodontia, Selective tooth agenesis, Cleft upper lip, Cleft palate, Conical tooth, Widely spaced... OMIM:106260
Trisomy 9P
Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Dental crowding ORPHA:236
Hyperphosphatasia-Intellectual Disability Syndrome
Short philtrum, Downturned corners of mouth, Aganglionic megacolon, Tented upper lip vermilion, B... ORPHA:247262
Arthrogryposis And Ectodermal Dysplasia
Oligodontia, Abnormal dental enamel morphology, Oral cleft, Cleft upper lip, Cleft palate OMIM:601701
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Distal Monosomy 17Q
Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula ORPHA:1597
Chromosome 18Q Deletion Syndrome
Short philtrum, Downturned corners of mouth, Thin upper lip vermilion, U-Shaped upper lip vermili... OMIM:601808
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... OMIM:252100
Trisomy 13
Long philtrum, Abnormality of the dentition, Cleft palate, High, narrow palate, Median cleft lip ORPHA:3378
Native American Myopathy
Downturned corners of mouth, Submucous cleft soft palate, Cleft palate, Bifid uvula, High palate ORPHA:168572
Mental Retardation, Autosomal Dominant 38
Everted lower lip vermilion, Tented upper lip vermilion, Downturned corners of mouth OMIM:616393
Loeys-Dietz Syndrome 4
Broad uvula, Bifid uvula, High palate, High, narrow palate, Eosinophilic infiltration of the esop... OMIM:614816
Recombinant 8 Syndrome
Downturned corners of mouth, Abnormality of the dentition, Thick vermilion border, Abnormality of... ORPHA:96167
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Death in childhood, Cleft upper lip, Cleft palate OMIM:600460
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, Bilateral cle... ORPHA:3253
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Pancreatic h... OMIM:130650
Robin Sequence With Cleft Mandible And Limb Anomalies
Narrow mouth, Pierre-Robin sequence, Cleft lower alveolar ridge, Aplasia of the epiglottis, Cleft... OMIM:268305
Desbuquois Dysplasia 2
Long philtrum, Dental crowding, Hypodontia, Cleft palate, Bifid uvula OMIM:615777
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteoporosis, Tubulointerstitial fibrosis, Enlarged kidney, Polycystic ovaries, Hepatomegaly, Gou... ORPHA:79259
Frontofacionasal Dysplasia
Non-midline cleft lip, Cleft palate ORPHA:1791
Isotretinoin Syndrome
Cleft palate ORPHA:2305
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Thin upper lip vermilion, High palate, Pyloric stenosis, Impaired mastication, Sub... ORPHA:457279
Thoracoabdominal Syndrome