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Gene: Cask MGI:1309489

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

calcium/calmodulin dependent serine protein kinase

Synonyms:

Pals3, DXRib1, mLin-2, LIN-2, DXPri1

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 Cask 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.

Human diseases associated with Cask (4 diseases)
Human diseases predicted to be associated with Cask (715 diseases)

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

Disease	Matching phenotypes	Source
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Epicanthus, Short stature, Optic nerve hypoplasia, Micrognathia, Postnatal growth retardation, Hy...	OMIM:300749
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Microcephaly, Micrognathia, Wide nasal bridge, Cerebellar hypoplasia, Sco...	ORPHA:163937
Fg Syndrome 4	Wide nasal bridge, Scoliosis	OMIM:300422
Early Infantile Epileptic Encephalopathy	Diffuse cerebral atrophy, Hyperactivity, Microcephaly, Diffuse white matter abnormalities, Cleft ...	ORPHA:1934

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

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Aggressive behavior, Wide nasal bridge, High palate, Hypoplasia of the corpus call...	OMIM:300983
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy	Synophrys, Wide nasal bridge, Eye of the tiger anomaly of globus pallidus, Retrognathia, Thin cor...	OMIM:619844
Microcephaly 8, Primary, Autosomal Recessive	Retrognathia, Primary microcephaly	OMIM:614673
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, Ret...	ORPHA:2521
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:172880
Mesomelic Limb Shortening And Bowing	Retrognathia, Cleft palate, Micrognathia	OMIM:249710
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Microcephaly, Simplified gyral pattern, Hypoplasia of the brainstem, High palate, Cerebellar hypo...	OMIM:619072
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Lethal Osteosclerotic Bone Dysplasia	Microcephaly, Micrognathia, Gingival fibromatosis, Gingival overgrowth, Mandibular aplasia, Short...	ORPHA:1832
Microcephaly-Microcornea Syndrome, Seemanova Type	Narrow mouth, Retrognathia, High palate, Microcephaly	ORPHA:2528
Microphthalmia, Syndromic 8	Mandibular prognathia, Microcephaly, Cryptorchidism, Blepharophimosis, Premature skin wrinkling, ...	OMIM:601349
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Severe short stature, Prematurely aged appearance, Microcephaly, Carious ...	ORPHA:2617
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Inflexible adherence to routines, Self-injurious behavior, Compulsive behavi...	OMIM:613670
Fetal Akinesia Deformation Sequence 4	Micrognathia, Wide nasal bridge, High palate, Prenatal death, Neonatal death, Retrognathia	OMIM:618393
Seckel Syndrome 4	Intrauterine growth retardation, Severe short stature, Retrognathia, Microcephaly	OMIM:613676
Parc Syndrome	Microretrognathia, Cleft palate	OMIM:600331
Microphthalmia, Syndromic 12	Intestinal malrotation, Micrognathia, Wide nasal bridge, Cleft palate, Neonatal death, Retrognathia	OMIM:615524
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysph...	ORPHA:99772
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Dental crowding, Persistence of primary teeth, Microcephaly, Micrognathia, Aggress...	OMIM:618342
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Geroderma Osteodysplasticum	Mandibular prognathia, Beaking of vertebral bodies, Severe short stature, Kyphoscoliosis, Microce...	OMIM:231070
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Ck Syndrome	Epicanthus, Micrognathia, Microcephaly, Hyperlordosis, Kyphosis, Almond-shaped palpebral fissure,...	OMIM:300831
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Intellectual Developmental Disorder, Autosomal Recessive 68	Microcephaly, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Narrow palpebral fissure, ...	OMIM:618302
Chromosome 22Q11.2 Duplication Syndrome	Velopharyngeal insufficiency, Microcephaly, High palate, Micrognathia	OMIM:608363
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Microcephalic Primordial Dwarfism, Montreal Type	Excessive wrinkling of palmar skin, Severe short stature, Cryptorchidism, Premature graying of ha...	OMIM:210700
Intellectual Developmental Disorder, X-Linked 90	Malar flattening, High palate, Bifid uvula, Attention deficit hyperactivity disorder	OMIM:300850
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Short nose, Cleft palate, Micrognathia	ORPHA:2015
Spinocerebellar Ataxia, Autosomal Recessive 31	Posterior atrophy of corpus callosum, Gingival overgrowth, Cerebral atrophy, Bruxism, Dysphagia, ...	OMIM:619422
Braddock-Carey Syndrome 2	Microcephaly, Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia	OMIM:619981
Hidrotic Ectodermal Dysplasia, Halal Type	Absent eyebrow, Sparse scalp hair, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Peho-Like Syndrome	Epicanthus, Retrognathia, Lissencephaly, Hypoplasia of the corpus callosum, Short nose, Pachygyri...	OMIM:617507
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Short stature, Micrognathia, Skin ulcer,...	ORPHA:2500
Monosomy 5P	Microretrognathia, Epicanthus, Short stature, Microcephaly, Wide nasal bridge, Scoliosis, Intraut...	ORPHA:281
Arthrogryposis, Distal, Type 1C	Pursed lips, Cleft lip, Cleft palate, Thin vermilion border, High palate, Narrow mouth, Retrognat...	OMIM:619110
Pontocerebellar Hypoplasia, Type 1F	Telecanthus, Microcephaly, Hypoplasia of the pons, Cerebral atrophy, Growth delay, Cerebellar hyp...	OMIM:619304
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Self-injurious behavior, High palate, Macrocephaly, Retrognathia, Abnormal...	OMIM:615637
Cog7-Cdg	Micrognathia, Postnatal growth retardation, Jaundice, Excessive wrinkled skin, Subcortical cerebr...	ORPHA:79333
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Epicanthus, Short stature, Microcephaly, Wide nasal bridge, Narrow palpebr...	OMIM:619595
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Nicolaides-Baraitser Syndrome	Alopecia, Severe short stature, Highly arched eyebrow, Microcephaly, Curly eyelashes, Cryptorchid...	ORPHA:3051
Bamforth-Lazarus Syndrome	Retrognathia, Cleft palate	ORPHA:1226
Jawad Syndrome	Thoracic scoliosis, Retrognathia, Primary microcephaly	OMIM:251255
Intellectual Developmental Disorder, Autosomal Recessive 70	Severe temper tantrums, Microcephaly, Wide nasal bridge, Attention deficit hyperactivity disorder...	OMIM:618402
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Microcephaly, Concave nail, Abnormality of hair textu...	OMIM:234050
Cataract-Intellectual Disability-Hypogonadism Syndrome	Short stature, Hypogonadotropic hypogonadism, Prematurely aged appearance, Microcephaly, Microgna...	ORPHA:1387
Congenital Arthrogryposis With Anterior Horn Cell Disease	Microcephaly, Micrognathia, Kyphosis, Cerebral atrophy, Scoliosis, Neonatal death, Retrognathia, ...	OMIM:611890
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Brittle hair, Short stature, Optic nerve hypoplasia, Progeroid facial appe...	OMIM:300953
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Microcephaly, Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Mala...	ORPHA:93946
Intellectual Developmental Disorder, Autosomal Recessive 45	Highly arched eyebrow, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Retrognathia, D...	OMIM:615979
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Hypoplasia of...	OMIM:620157
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd...	ORPHA:1248
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Rubinstein-Taybi Syndrome 2	Hyperactivity, Intestinal malrotation, Micrognathia, Carious teeth, Microcephaly, Talon cusp, Den...	OMIM:613684
Adducted Thumbs Syndrome	Cerebral dysmyelination, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft p...	OMIM:201550
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Short stature, Microcephaly, Hypoplasia of the maxilla, Upslanted palpebra...	ORPHA:93950
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Aggressive behavior, Hypoplasia of the maxilla, Microcephaly, High palate, Macrocephaly	ORPHA:85279
Autism Spectrum Disorder Due To Auts2 Deficiency	Epicanthus, Short stature, Highly arched eyebrow, Microcephaly, Micrognathia, Kyphosis, Bilateral...	ORPHA:352490
Gaba-Transaminase Deficiency	Downslanted palpebral fissures, Retrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Perlman Syndrome	Micrognathia, High, narrow palate, Short nose, Wide nasal bridge, Abnormal upper lip morphology, ...	ORPHA:2849
Orofaciodigital Syndrome Type 5	Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Microcephaly...	ORPHA:2919
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Cornelia De Lange Syndrome 5	Telecanthus, Short stature, Cutis marmorata, Highly arched eyebrow, Microcephaly, Postnatal growt...	OMIM:300882
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency, Dysphagia	OMIM:617732
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Epicanthus, Carious teeth, Synophrys, Scoliosis, Malar flattening, Retrognathia, Downslanted palp...	ORPHA:1390
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous ...	OMIM:612292
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Redundant skin, Microcephaly, Carious teeth, Abnormality of hair texture, Cutis lax...	OMIM:219200
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Thin vermilion border, Retrognathia, Cleft palate	ORPHA:2631
Weaver Syndrome	Deep-set nails, Abnormal fingernail morphology, Redundant skin, Thin nail, Micrognathia, Hypoplas...	ORPHA:3447
Progeroid Syndrome, Petty Type	Mandibular prognathia, Reduced subcutaneous adipose tissue, Epicanthus, Brittle hair, Short statu...	ORPHA:2963
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Subcortical band heterotopia, Upslanted palp...	OMIM:618737
Lujan-Fryns Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Aplasia/H...	ORPHA:776
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Baraitser-Winter Syndrome 2	Telecanthus, Short stature, Highly arched eyebrow, Retrognathia, Lissencephaly, Secondary microce...	OMIM:614583
Cog5-Cdg	Diffuse cerebral atrophy, Cerebral white matter atrophy, Short stature, Microcephaly, Cryptorchid...	ORPHA:263487
Split-Foot Deformity With Mandibulofacial Dysostosis	Malar flattening, Cleft palate, Micrognathia	OMIM:183700
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Faciocardiomelic Dysplasia, Lethal	Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia	OMIM:227270
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Chromosome 19Q13.11 Deletion Syndrome, Distal	Micrognathia, Sparse hair, Short stature, Sparse eyebrow, Cryptorchidism, Wide nasal bridge, Long...	OMIM:613026
Myopathy, Centronuclear, 5	Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula	OMIM:615959
20P12.3 Microdeletion Syndrome	Epicanthus, Short stature, Hypoplasia of the maxilla, Wide nasal bridge, Macrocephaly, Malar flat...	ORPHA:261295
Seckel Syndrome 5	Abnormal cortical gyration, Selective tooth agenesis, Micrognathia, Microcephaly, Simplified gyra...	OMIM:613823
Mulchandani-Bhoj-Conlin Syndrome	Epicanthus, Severe short stature, Hyperlordosis, Scoliosis, Intrauterine growth retardation, Retr...	OMIM:617352
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Macrocephaly	OMIM:300676
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Scoliosis, Cutis laxa	OMIM:614434
Ck Syndrome	Microretrognathia, Hyperactivity, Dental crowding, Microcephaly, Aggressive behavior, High palate...	ORPHA:251383
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Pierre-Robin sequence, Cleft palate, Cerebral atrophy, Glossoptosis, Hypoplasia of the corpus cal...	OMIM:620269
Schilbach-Rott Syndrome	Microcephaly, Micrognathia, Long nose, Submucous cleft hard palate, Attention deficit hyperactivi...	OMIM:164220
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Redundant skin, Prominent veins on trunk, Coarse hair, Sparse hair, Pachygyr...	ORPHA:357074
Coffin-Siris Syndrome 6	Micrognathia, High, narrow palate, Deep philtrum, Retrognathia, Cleft palate, Short philtrum, Tic...	OMIM:617808
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Narrow mouth, Gingival overgrowth, Everted ...	OMIM:614753
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Microcephaly, Wide nasal bridge, Everted lower lip vermilion, Short philtrum, Cerebellar hypoplas...	OMIM:619556
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Dental crowding, Micrognathia, Stillbirth, High palate, Retrognathia	OMIM:617468
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology	ORPHA:2291
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Platyspondyly, Scoliosis, Narrow...	OMIM:601216
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Aggressive behavior, Microcephaly, Wide nasal bridge, High palate	OMIM:606220
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Short stature, Hypoplasia of the maxilla, Multiple small vertebral fractures, Platyspondyly, Oste...	OMIM:156510
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Hypoplasia of the...	ORPHA:228396
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Wide mouth, Retrognathia, High palate, Compulsive behaviors	OMIM:615722
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum	ORPHA:90653
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Dermal translucency, Sparse eyelas...	OMIM:209885
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Aggressive behavior, Narrow mouth, Partial agenesis of the corpus callosum, Wide na...	OMIM:620250
Hypotonia-Cystinuria Syndrome	Growth delay, Epicanthus, Retrognathia, Ptosis	ORPHA:163690
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Hypoplasia of the maxilla, Sparse eyebr...	OMIM:167730
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Microcephaly, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Glo...	ORPHA:3201
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Telecanthus, Hypoplasia of the maxilla, Macrocephaly, Blepharophimosis, Pt...	ORPHA:397973
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Epicanthus, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Wide nasal bridge, Bruisin...	ORPHA:98791
Distal 17P13.1 Microdeletion Syndrome	Unilateral polymicrogyria, Microcephaly, High palate, Hypoplasia of the zygomatic bone, Increased...	ORPHA:319171
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Epicanthus, Retrognathia, Cerebral atrophy, Ptosis	ORPHA:2958
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Micrognathia, Retrognathia, Dysphagi...	ORPHA:163961
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Micrognathia, High, narrow palate, Ileus, C...	OMIM:620156
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Wide nasal bridge, Narrow palate, Tong...	OMIM:620107
8Q22.1 Microdeletion Syndrome	Telecanthus, Sparse eyelashes, Highly arched eyebrow, Microcephaly, Hypoplasia of the maxilla, Cr...	ORPHA:178303
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Intrauterine growth retardation, Retrognathia	OMIM:617194
Amish Lethal Microcephaly	Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Micrognathia, Microcephaly, Li...	ORPHA:99742
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Prematurely aged appea...	ORPHA:1807
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Microcephaly, Abnormal cerebral white matter morphology, High palate, Hypoplasia of the corpus ca...	OMIM:619026
Craniofaciofrontodigital Syndrome	Epicanthus, Prominent superficial veins, Short stature, Thick hair, Low anterior hairline, Cutis ...	ORPHA:363705
Nicolaides-Baraitser Syndrome	Dry hair, Low anterior hairline, Sparse hair, Sparse medial eyebrow, Absent eyebrow, Short statur...	OMIM:601358
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplan...	ORPHA:498359
Chromosome 3Pter-P25 Deletion Syndrome	Epicanthus, Short stature, Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Mic...	OMIM:613792
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Lissencephaly,...	OMIM:612938
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Biparietal narrowing, Sparse hair, Dystrophic fingernails, Short st...	ORPHA:1340
Neuropathy, Congenital Hypomyelinating, 3	Micrognathia, Microcephaly, Gingival overgrowth, Narrow palate, High palate, Thick vermilion bord...	OMIM:618186
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Dental crowding, Microcephaly, Micrognathia, Aggressive behavior, Wide ...	OMIM:617061
Prieto Syndrome	Epicanthus, Retrognathia, Cerebral atrophy, Ptosis	OMIM:309610
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Lacrimal duct atresia, Blepharophimosis, Short nose, Downslanted palpe...	ORPHA:1529
Macrocephaly-Developmental Delay Syndrome	Mandibular prognathia, Microretrognathia, Wide nasal bridge, Self-injurious behavior, High palate...	ORPHA:397612
Spastic Paraplegia 23, Autosomal Recessive	Microcephaly, Micrognathia, Premature graying of body hair, Scoliosis, Retrognathia	OMIM:270750
Cornelia De Lange Syndrome 2	Short stature, Cutis marmorata, Highly arched eyebrow, Microcephaly, Postnatal growth retardation...	OMIM:300590
Congenital Myopathy 2A, Typical, Autosomal Dominant	Retrognathia, High palate, Dysphagia	OMIM:161800
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Optic nerve hypoplasia, Microcephaly, Wide nasal bridge...	OMIM:615583
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Impulsivity, Microcephaly, Hypoplasia of the maxilla, Ag...	ORPHA:293939
Trichothiodystrophy 1, Photosensitive	Brittle hair, Short stature, Trichoschisis, Microcephaly, Dry skin, Telangiectasia, Fine hair, Hy...	OMIM:601675
Dermatoleukodystrophy	Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Robinow Syndrome, Autosomal Recessive 2	Relative macrocephaly, Cleft soft palate, Micrognathia, Abnormality of the dentition, Short nose,...	OMIM:618529
Short Syndrome	Delayed eruption of teeth, Telecanthus, Prominent superficial veins, Micrognathia, Dental maloccl...	OMIM:269880
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Secondary microce...	ORPHA:79113
Frontonasal Dysplasia 1	Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wi...	OMIM:136760
Arthrogryposis, Impaired Intellectual Development, And Seizures	Microretrognathia, Scoliosis, Microcephaly	OMIM:615553
6Q16 Microdeletion Syndrome	Micrognathia, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Macrocephaly, Retrogn...	ORPHA:171829
Hydrolethalus	Absent septum pellucidum, Micrognathia, Submucous cleft hard palate, Anencephaly, Cleft palate, G...	ORPHA:2189
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Short nose, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Microcephaly, Aggressive behavior, Cleft lip, Deep philtrum, Wide nasal ...	OMIM:620098
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Head titubation, Cutis laxa, Sparse hair, Woolly hair, Retrognathia, Trichorrhexi...	OMIM:619691
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Short stature, Hypergonadotropic hypogonadism, Congenital ptosis, Premature graying of hair, Azoo...	ORPHA:280679
Baraitser-Winter Syndrome 1	Epicanthus, Short stature, Highly arched eyebrow, Microcephaly, Postnatal growth retardation, Cry...	OMIM:243310
Myoclonic-Astatic Epilepsy	Premature skin wrinkling, Wide nasal bridge, Frontal balding, Microcephaly	ORPHA:1942
Joubert Syndrome 18	Agenesis of cerebellar vermis, Cleft palate, Lobulated tongue, Retrognathia, Agenesis of corpus c...	OMIM:614815
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Micrognathia, High, narrow palate, Velopharyngeal insu...	OMIM:619941
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Redundant skin, Micrognathia, Synophrys, Low...	OMIM:612289
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Cerebral atrophy, High palate, Hypoplasia of the corpus callosum, Retrognathia, Pol...	OMIM:615330
Lambotte Syndrome	Intrauterine growth retardation, Telecanthus, Retrognathia, Microcephaly	OMIM:245552
Uvula, Bifid	Bifid uvula	OMIM:192100
Focal Facial Dermal Dysplasia 3, Setleis Type	Epicanthus, Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, ...	OMIM:227260
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de...	OMIM:616331
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening	OMIM:241310
Arthrochalasia Ehlers-Danlos Syndrome	Epicanthus, Severe short stature, Micrognathia, Scoliosis, Retrognathia	ORPHA:1899
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, Cortical dysplasia, Pachygyria, Short stature, Cryptorchidism, Wide nasal...	OMIM:612513
Radio-Tartaglia Syndrome	Micrognathia, Synophrys, Low anterior hairline, Agenesis of corpus callosum, Highly arched eyebro...	OMIM:619312
X-Linked Intellectual Disability, Seemanova Type	Retrognathia, High palate, Microcephaly	ORPHA:85323
Elastoderma	Premature skin wrinkling, Cutis laxa	ORPHA:228240
Oculoskeletodental Syndrome	Epicanthus, Short stature, Hyperlordosis, Dysplastic corpus callosum, Wide nasal bridge, Thoracic...	ORPHA:557003
Combined Oxidative Phosphorylation Deficiency 36	Upslanted palpebral fissure, Premature skin wrinkling	OMIM:617950
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Cleft palate	OMIM:258320
Orofaciodigital Syndrome X	Retrognathia, Cleft palate	OMIM:165590
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Micrognathia, Microcephaly, High palate, Lissencephaly, Hypoplasia of the corpus callosum, Retrog...	OMIM:618142
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Epicanthus, Telecanthus, Short stature, Sparse eyelashes, Kyphoscoliosis, Prog...	ORPHA:75496
Arthrogryposis Multiplex Congenita 5	Kyphoscoliosis, Microcephaly, Micrognathia, Wide nasal bridge, Growth delay, Upslanted palpebral ...	OMIM:618947
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Epicanthus, Short stature, Anterior concavity of thoracic vertebrae, Microcephaly, Micrognathia, ...	OMIM:617101
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Multiple pterygia, Micrognathia	OMIM:601809
Brachycephaly, Trichomegaly, And Developmental Delay	Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin v...	OMIM:617412
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Agen...	OMIM:618779
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial ag...	OMIM:619103
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Short stature, Micrognathia, Carious teeth, Sparse eyebrow, Nasolacrimal ...	OMIM:604173
Isolated Childhood Apraxia Of Speech	High, narrow palate, Caudate atrophy, Submucous cleft hard palate, Abnormal caudate nucleus morph...	ORPHA:209908
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Hyperactivity, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	OMIM:309520
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Submucous cleft hard palate, Bifid uvula, Microcephaly	OMIM:619239
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Epicanthus, Short stature, Redundant skin, Progeroi...	OMIM:278250
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mou...	OMIM:137550
Short Syndrome	Telecanthus, Severe short stature, Alopecia, Abnormal dental enamel morphology, Abnormal zygomati...	ORPHA:3163
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Retrognathia, Wide nasal bridge, H...	OMIM:618804
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Short stature, Highly arched eyebrow, Microcephaly, Wide nasal bridge, Long eyelashes, Hypoplasia...	OMIM:617452
Wieacker-Wolff Syndrome	Short stature, Micrognathia, Microcephaly, Hyperlordosis, Kyphosis, Cerebral atrophy, Upslanted p...	OMIM:314580
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia	OMIM:614526
Peho Syndrome	Epicanthus, Retrognathia, Hypoplasia of the corpus callosum, Short nose, Pachygyria, Polymicrogyr...	OMIM:260565
Congenital Disorder Of Glycosylation, Type Iie	Short stature, Micrognathia, Jaundice, Low anterior hairline, Cerebral atrophy, Growth delay, Ups...	OMIM:608779
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Cerebellar vermis hypoplasia, Thick hair, Progeroid facial appearance, Pos...	ORPHA:357058
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti...	ORPHA:915
Keipert Syndrome	Epicanthus, Short stature, Hypoplasia of the maxilla, Macrocephaly, Ptosis	ORPHA:2662
Recon Progeroid Syndrome	Prominence of the premaxilla, Short stature, Progeroid facial appearance, Microcephaly, Hyperconv...	OMIM:620370
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, High, narrow palate, Wide mouth, Thin vermilion border, Attention def...	ORPHA:485405
Squalene Synthase Deficiency	Epicanthus, Optic nerve hypoplasia, Micrognathia, Bilateral cryptorchidism, Abnormality of hair p...	OMIM:618156
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Upslanted palpebral fissure, Retrognathia, Thoracic kyphosis, Microcephaly	OMIM:619092
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Short nose, Retrognathia, High palate	OMIM:614069
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Upper eyelid co...	OMIM:616462
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Redundant skin, Microcephaly, Lack of skin elasticity, Excessive wri...	OMIM:612940
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cerebral calcification, Lacrimal duct stenosis, Microcephaly, Sparse eyebrow, Intrauterine growth...	ORPHA:73246
Say Syndrome	Microcephaly, Cleft palate, Micrognathia	OMIM:181180
Cutis Laxa, Autosomal Dominant 3	Microcephaly, Postnatal growth retardation, Cutis laxa, Intrauterine growth retardation, Prematur...	OMIM:616603
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypoplasia of the maxilla, Absent eyela...	OMIM:106260
Rapp-Hodgkin Syndrome	Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, Sparse hair, Short stature, Sparse ey...	OMIM:129400
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Short stature, Sparse facial hair, Progeroid facial appearance, Sparse axillary hair, Hypoplasia ...	OMIM:608154
Rabin-Pappas Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Hypoplasia of...	OMIM:620155
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate, High palate, Macrocepha...	ORPHA:1307
X-Linked Intellectual Disability, Van Esch Type	Short stature, Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Male hypogonadism, R...	ORPHA:163976
Diamond-Blackfan Anemia 6	Cleft upper lip, Micrognathia, Cleft palate, Retrognathia, Bifid uvula	OMIM:612561
Baraitser-Winter Cerebrofrontofacial Syndrome	Micrognathia, Long nose, Subcortical cerebral atrophy, Pachygyria, Highly arched eyebrow, Wide na...	ORPHA:2995
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Cerebral calcification, Micrognathia, High, narrow palate, Submucous c...	ORPHA:2780
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Leukoencephalopathy, Cutis laxa, Hypoplasia of the corpus...	ORPHA:79325
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ...	ORPHA:2409
Tonne-Kalscheuer Syndrome	Microcephaly, Micrognathia, Aggressive behavior, Velopharyngeal insufficiency, Wide nasal bridge,...	OMIM:300978
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Abnormal dental enamel morphology, Supernumerary nipple, Abnormal eyelid morphology, ...	ORPHA:1812
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short stature	ORPHA:2776
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Smooth philtrum, Abnormality of the dentition, Carious teeth, Dysplastic corpus callosum, Velopha...	ORPHA:363444
Chromosome 16Q22 Deletion Syndrome	Epicanthus, Highly arched eyebrow, Microcephaly, Postnatal growth retardation, Micrognathia, Wide...	OMIM:614541
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Microcephaly, Postnatal growth retardation, Micrognathia, Scoliosis,...	ORPHA:435628
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Smooth philtrum, Cleft soft palate, Abnormal caudate nucleus morphology, Short philtrum, Primary ...	ORPHA:293725
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Sparse scalp hair, Severe short stature, Short stature, High...	OMIM:270450
Opitz-Kaveggia Syndrome	Relative macrocephaly, Epicanthus, Lumbar hyperlordosis, Short stature, Facial wrinkling, Microgn...	OMIM:305450
Oculocerebrofacial Syndrome, Kaufman Type	Microcephaly, Micrognathia, High, narrow palate, Wide mouth, Abnormal upper lip morphology, Abnor...	ORPHA:2707
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Microcephaly, Micrognathia, Downturned corners of mouth, Lissencephaly, Cerebel...	OMIM:616342
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Retrognathia, Cleft palate, Wide nasal bridge, High palate, Short philt...	OMIM:619493
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Microcephaly, Cryptorchidism, Dry skin, Fine hair, Growth delay, Sparse or ...	ORPHA:217346
Seckel Syndrome	Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Prematurely aged appearance,...	ORPHA:808
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Simplified gyral pattern, Cerebral atrophy, Cleft palate, Hypoplasia o...	OMIM:614261
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Repetitive compulsive behavior, Downturned corners of mouth, Thick vermili...	ORPHA:391372
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Microcephaly, Hypoplasia of the maxilla, Abnormal eyelash morpho...	ORPHA:2399
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Short stature, Dysmenorrhea, Sparse e...	ORPHA:2067
Orofaciodigital Syndrome Xvii	High, narrow palate, Retrognathia, Median cleft lip	OMIM:617926
Short Stature, Brussels Type	Microretrognathia, Growth delay, Short stature, Macrocephaly	ORPHA:2867
Shashi-Pena Syndrome	Epicanthus, Reduced cerebral white matter volume, Highly arched eyebrow, Kyphosis, Synophrys, Hyp...	OMIM:617190
De Barsy Syndrome	Delayed eruption of teeth, Dermal translucency, Epicanthus, Cerebellar vermis hypoplasia, Short s...	ORPHA:2962
Hypoglossia-Hypodactylia	Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Fg Syndrome Type 1	Short stature, Optic nerve hypoplasia, Facial wrinkling, Micrognathia, Cryptorchidism, Aplasia/Hy...	ORPHA:93932
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Micrognathia, Hypoplasia of the maxilla,...	OMIM:216550
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Agenesis of corpus callosum, Dandy-Walker malformation, Absent eyebrow, Alopecia, S...	OMIM:264090
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate, Micrognathia	ORPHA:166016
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Downturned corners of mouth, W...	OMIM:156200
Stuve-Wiedemann Syndrome 1	Short stature, Ovoid vertebral bodies, Micrognathia, Carious teeth, Premature skin wrinkling, Sco...	OMIM:601559
Beaulieu-Boycott-Innes Syndrome	Microcephaly, Carious teeth, Micrognathia, Velopharyngeal insufficiency, Long nose, Dental malocc...	OMIM:613680
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Short stature, Hypoplasia of the maxilla, Macrocephaly, Malar flattening, Agenesis o...	OMIM:109120
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Synophrys, Generalized hirsutism, Brow ptosis, Short stature,...	OMIM:605130
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Short stature, Postnatal growth retardation, Long nose, Partial ag...	OMIM:620113
Marshall Syndrome	Cerebral calcification, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Hy...	ORPHA:560
Ehlers-Danlos Syndrome, Classic-Like, 2	Thoracic scoliosis, Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poo...	OMIM:618000
Branchiogenic-Deafness Syndrome	Branchial cyst, Trismus, Submucous cleft hard palate, Branchial fistula	OMIM:609166
Schaaf-Yang Syndrome	Mandibular prognathia, Thick eyebrow, Short stature, Kyphosis, Cryptorchidism, Hypogonadism, Scol...	OMIM:615547
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Cleft palate, Micrognathia	OMIM:618265
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Short stature, Highly arched eyebrow, Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of the cor...	ORPHA:505237
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Death in infancy, Retrognathia, High palate	OMIM:300219
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Cerebral calcification, Short stature, Microcephaly, Generalized hypopigmentat...	ORPHA:3322
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Diffuse white matter abnormalities, Wide nasal bridge, High palate, Sh...	OMIM:218000
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Micrognathia, Corpus callosum atrophy, Gingival overgrowth, Cerebral atrophy, Short upper lip, Se...	OMIM:616875
Geroderma Osteodysplastica	Mandibular prognathia, Beaking of vertebral bodies, Severe short stature, Prematurely aged appear...	ORPHA:2078
Transaldolase Deficiency	Premature skin wrinkling, Telangiectasia	ORPHA:101028
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Macrodontia, Microcephaly, Protruding tongue, Diastema, Aggressive behavio...	OMIM:212066
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Retrognathia, High palate, Microcephaly	OMIM:620237
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Microcephaly, Micrognathia, Dysplastic corpus callosum, Wide mouth, Death in childhood, Retrognathia	OMIM:604273
Dislocation Of The Hip-Dysmorphism Syndrome	Epicanthus, Malar flattening, Prominence of the premaxilla, Wide nasal bridge	ORPHA:2412
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, High palate	ORPHA:456328
Insulin-Like Growth Factor I Deficiency	Short stature, Microcephaly, Postnatal growth retardation, Micrognathia, Intrauterine growth reta...	OMIM:608747
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Restlessness, Micrognathia, Hypop...	OMIM:300534
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Cleft palate, High palate, Macrocephaly, Retrognathia, Agenesis of corpus callosum	ORPHA:52055
Angelman Syndrome	Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Paroxysmal bu...	OMIM:105830
Desmosterolosis	Intestinal malrotation, Absent septum pellucidum, Micrognathia, Pachygyria, Abnormal cortical gyr...	ORPHA:35107
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Short stature, Hypoplasia of the ma...	ORPHA:950
Nager Syndrome	Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla...	ORPHA:245
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Silver-Russell Syndrome 3	Relative macrocephaly, Short stature, Postnatal growth retardation, Antecubital pterygium, Retrog...	OMIM:616489
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Kyphoscoliosis, Microcephaly, Highly arched eyebrow, Disproportionate shor...	OMIM:618644
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Smooth philtrum, Aggressive behavior, Hypoplasia of the maxilla, Hypoplasia of the brainstem, Pro...	ORPHA:481152
Anauxetic Dysplasia 3	Sparse scalp hair, Severe short stature, Thoracolumbar kyphoscoliosis, High anterior hairline, Cu...	OMIM:618853
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Progeria-Short Stature-Pigmented Nevi Syndrome	Thoracic scoliosis, Premature ovarian insufficiency, Short stature, Hypergonadotropic hypogonadis...	ORPHA:2959
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Crisponi/Cold-Induced Sweating Syndrome 1	Micrognathia, Carious teeth, Trismus, High palate, Narrow mouth, Retrognathia, Long philtrum	OMIM:272430
Cockayne Syndrome	Dry hair, Cerebral calcification, Basal ganglia calcification, Cerebral dysmyelination, Cryptorch...	ORPHA:191
Bangstad Syndrome	Severe short stature, Retrognathia, Cerebral hypoplasia	OMIM:210740
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Frontal balding	ORPHA:93945
Duplication Of The Pituitary Gland	Microcephaly, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Hypoplasi...	ORPHA:314621
Rhizomelic Chondrodysplasia Punctata, Type 2	Optic nerve hypoplasia, Microcephaly, Micrognathia, Submucous cleft hard palate, Wide nasal bridg...	OMIM:222765
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Primary microcephaly, Cerebra...	OMIM:620183
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the cereb...	ORPHA:93262
Cleft Soft Palate	Cleft soft palate	OMIM:119570
2P15P16.1 Microdeletion Syndrome	Epicanthus, Telecanthus, Optic nerve hypoplasia, Supernumerary nipple, Microcephaly, Sparse eyebr...	ORPHA:261349
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Epicanthus, Telecanthus, Short stature, Sparse eyelashes, Micrognathia...	OMIM:257850
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Blepharophimosis, Bilateral crypto...	ORPHA:544488
Ogden Syndrome	Redundant neck skin, Redundant skin, Micrognathia, Abnormal eyelid morphology, Microretrognathia,...	OMIM:300855
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventricle, P...	OMIM:220220
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia	OMIM:108721
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Ptosis, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the...	ORPHA:439822
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Hypoplasia of the maxilla, Malar flattening, Short nose, Downslanted palpebral fissures	OMIM:122880
Lissencephaly Due To Tuba1A Mutation	Microretrognathia, Cerebellar vermis hypoplasia, Aganglionic megacolon, Agyria, Optic nerve hypop...	ORPHA:171680
Bainbridge-Ropers Syndrome	Micrognathia, Synophrys, Sparse hair, Highly arched eyebrow, Cryptorchidism, Wide nasal bridge, S...	OMIM:615485
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Autosomal Recessive Centronuclear Myopathy	Retrognathia, High palate, Bifid uvula, Narrow mouth	ORPHA:169186
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Kyphosis, Synophrys, Scoliosis, Retrognathia, Downslanted palpebral fissures, Thi...	OMIM:300280
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Microcephaly, Cleft palate, Furrowed tongue, Cerebral atrophy, High p...	OMIM:616449
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Porencephalic...	OMIM:252100
Neu-Laxova Syndrome	Cerebral calcification, Micrognathia, Abnormal eyelid morphology, Pterygium, Pachygyria, Dandy-Wa...	ORPHA:2671
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Death in early adulthood, Abnormal dental m...	ORPHA:192
Ataxia-Telangiectasia	Hypopigmentation of hair, Short stature, Prematurely aged appearance, Telangiectasia of the skin,...	ORPHA:100
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Intestinal malrotation, Microcephaly, Velopharyngeal insufficiency, Sub...	OMIM:614701
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Redundant neck skin, Short stature, Optic nerve hypoplasia, Microcephaly, Cryptorchi...	OMIM:301056
Trichothiodystrophy	Ridged nail, Brittle hair, Partial agenesis of the corpus callosum, Thoracic kyphosis, Conjunctiv...	ORPHA:33364
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide nasal bridge...	ORPHA:96092
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Progeroid facial appearance, Kyphosis, ...	ORPHA:90322
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Wide mouth, Short phil...	ORPHA:1194
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short stature, Hypergonadotropic hypogonadism, Postnatal growth retardation, Premature graying of...	OMIM:300845
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Short philtru...	OMIM:601499
Nablus Mask-Like Facial Syndrome	Telecanthus, Sparse eyelashes, Highly arched eyebrow, Hypoplasia of the maxilla, Cryptorchidism, ...	OMIM:608156
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Microcephaly, Micrognathia, Wide nasal bridge, Submucous cleft soft palate, Sh...	ORPHA:2282
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attenti...	OMIM:619227
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening...	OMIM:613717
Axenfeld-Rieger Syndrome	Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Everted lower lip vermilion, Hypodon...	ORPHA:782
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Epicanthus, Short stature, Microcephaly, Wide nasal bridge, Cerebra...	OMIM:614886
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Redundant skin, Absent eyelashes, Hypoplasia of...	OMIM:200110
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Microcephaly, Protruding tongue, Submucous cleft hard palate, Wide nasal bridge,...	OMIM:618106
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Microcephaly, Wide nasal bridge, High palate, Short nose, Retrognathia	OMIM:618005
Bohring-Opitz Syndrome	Epicanthus, Short stature, Thick hair, Supernumerary nipple, Mesomelic/rhizomelic limb shortening...	OMIM:605039
Short Stature-Micrognathia Syndrome	Microcephaly, Micrognathia, Cleft palate, High palate, Retrognathia	OMIM:617164
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Short stature, Micrognathia, Postnatal growth retardation, Microcephal...	ORPHA:73272
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H...	OMIM:170390
Combined Oxidative Phosphorylation Deficiency 5	Microcephaly, Leukoencephalopathy, Growth delay, Hypoplasia of the corpus callosum, Retrognathia	OMIM:611719
Marshall-Smith Syndrome	Protruding tongue, Gingival overgrowth, Cerebellar hypoplasia, Open mouth, Retrognathia, Short nose	ORPHA:561
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Micrognathia, Corpus callosum atrophy, Gingival overgrowth, Cerebral atrophy, Progressive microce...	ORPHA:480898
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Micrognathia, Long nose, Cleft palate, High palate, Narrow mouth, Retrognathia	OMIM:301091
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Micrognathia, Wide nasal bridge, Cerebellar hypoplas...	OMIM:616258
Dermatosparaxis Ehlers-Danlos Syndrome	Epicanthus, Severe short stature, Abnormality of subcutaneous fat tissue, Micrognathia, Excessive...	ORPHA:1901
Orofaciodigital Syndrome Type 10	Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia	ORPHA:2756
Arthrogryposis, Distal, Type 1A	Short stature, Trismus, Scoliosis, Retrognathia, Ptosis	OMIM:108120
Crouzon Syndrome	Hypoplasia of the maxilla, Cerebellar hypoplasia, Narrow palate	ORPHA:207
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Microcephaly, Disproportionate short stature, Wide nasal bridge, Dry skin, Fine hair, Narrow palp...	ORPHA:2637
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Conical tooth, Non-mi...	ORPHA:1071
Wiedemann-Rautenstrauch Syndrome	Synophrys, Hypoplastic vertebral bodies, Sparse hair, Agenesis of corpus callosum, Abnormal corpu...	ORPHA:3455
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Abnormal cortical gyration, Microcephaly, Cerebral atrophy, Dry skin, Growth delay, H...	OMIM:614576
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Broad eyebrow, Highly arched eyebrow, Microcephaly, Long nose, Sacral hypertrichosis, Hypoplasia ...	ORPHA:457351
Meier-Gorlin Syndrome 5	Microcephaly, Hypoplasia of the maxilla, Micrognathia, Submucous cleft hard palate, Thick vermili...	OMIM:613805
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Micrognathia, Shallow orbits, Generalized abnormality of ski...	ORPHA:740
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Synophrys, Hemivertebrae, Low anterior hairline, Vertebr...	OMIM:213980
Velocardiofacial Syndrome	Microcephaly, Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pie...	OMIM:192430
Dysostosis, Stanescu Type	Cerebral calcification, Abnormal dental enamel morphology, Microcephaly, Hypoplasia of the maxill...	ORPHA:1798
Cohen Syndrome	Short stature, Thick hair, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Kyphosis, Crypt...	ORPHA:193
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Dystonia 31	Abnormal posturing	OMIM:619565
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Telecanthus, Microcephaly, Micrognathia, Frontotemporal hypertrichosis, Retrognathia	OMIM:263210
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea	OMIM:264270
Pfeiffer Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Short nose	OMIM:101600
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Epicanthus, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Up...	OMIM:619909
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Hypoplasia of the maxilla, Trichorrhexis no...	ORPHA:238468
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed ...	OMIM:615108
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Prominent superficial veins, Prematurely aged appearance, Micrognathia...	OMIM:601812
Cree Mental Retardation Syndrome	Cleft soft palate, Micrognathia	OMIM:606851
Warburg Micro Syndrome 3	Decreased testicular size, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Microcepha...	OMIM:614222
7Q31 Microdeletion Syndrome	Epicanthus, Telecanthus, Hypoplasia of the maxilla, Postnatal growth retardation, Hypoplasia of t...	ORPHA:251061
Alazami Syndrome	Cutis marmorata, Postnatal growth retardation, Sparse eyebrow, Mild microcephaly, Abnormality of ...	ORPHA:319671
Prader-Willi Syndrome Due To Translocation	Micrognathia, Downturned corners of mouth, High palate, Compulsive behaviors, Abnormal repetitive...	ORPHA:177907
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Microcephaly, Trismus, Pierre-Robin sequence, Cleft palate, Dysphagia, Glossoptosis...	OMIM:254940
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent superficial veins, Cryptorchidism, Cutis laxa, Fine hair, Narrow palpebral fissure, Exc...	OMIM:614438
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Redundant skin, Abnormal hair pattern, Hypoplasia of the maxilla, Abs...	ORPHA:920
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Restlessness	OMIM:300266
3Mc Syndrome 2	Prominence of the premaxilla, Highly arched eyebrow, Postnatal growth retardation, Wide nasal bri...	OMIM:265050
15Q Overgrowth Syndrome	Mandibular prognathia, Microretrognathia, Smooth philtrum, Dental crowding, Micrognathia, High, n...	ORPHA:314585
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ...	ORPHA:2712
Myasthenic Syndrome, Congenital, 19	Retrognathia, High palate, Micrognathia	OMIM:616720
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip, Micrognathia	OMIM:619122
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Microcephaly, Gingival overgrowth, Thick corpus callosum, Thin vermilion border, Hypoplasia of th...	ORPHA:464288
Congenital Disorder Of Glycosylation, Type Iib	Thoracic scoliosis, Cerebral atrophy, Long eyelashes, Hypoplasia of the corpus callosum, Blepharo...	OMIM:606056
Laron Syndrome	Delayed eruption of teeth, Severe short stature, Prematurely aged appearance, Micrognathia, Delay...	ORPHA:633
20Q11.2 Microduplication Syndrome	Epicanthus, Palpebral edema, Microcephaly, Wide nasal bridge, Growth delay, Severe intrauterine g...	ORPHA:363659
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Micrognathia, High, narrow palate, Deep philtrum, Wide nasal bridge, Na...	OMIM:158170
Aarskog-Scott Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Curved linear dimple...	OMIM:305400
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Cryptorchidism, Cerebral atrophy, Growth delay, Abnormal posturing	OMIM:614857
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Short stature, Microcephaly, Retrognathia, Growth delay, Scoliosis, Pachyg...	OMIM:619576
Van Maldergem Syndrome 1	Epicanthus, Micrognathia, Hypoplasia of the maxilla, Subcortical band heterotopia, Dental maloccl...	OMIM:601390
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Short stature, Prematurely aged appearance, Progeroid facial appearance, Micrognathia, ...	ORPHA:90154
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the...	ORPHA:314679
Werner Syndrome	Sparse scalp hair, Short stature, Prematurely aged appearance, Telangiectasia of the skin, Abnorm...	ORPHA:902
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Low anterior hairline, Short stature, Prematurely aged appearance, Hyperlo...	OMIM:619950
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia	OMIM:618021
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Impulsivity, Micrognathia, Aggressive behavior, Self-injurious behavior, H...	OMIM:618914
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath...	OMIM:608670
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Postnatal growth retardation, Abnormal eyelash morphology, Growth dela...	OMIM:206920
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Micrognathia, Carious teeth, Microcephaly, Cleft lip, Porenceph...	OMIM:117650
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	High palate, Macrocephaly, Retrognathia, Agenesis of corpus callosum, Bifid uvula	OMIM:300472
Acrofacial Dysostosis, Catania Type	Microretrognathia, Short stature, Abnormal hair pattern, Microcephaly, Carious teeth, Cryptorchid...	ORPHA:1786
Dyskeratosis Congenita	Cerebral calcification, Hypoplasia of the maxilla, White hair, Premature graying of hair, Sparse ...	ORPHA:1775
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum	ORPHA:1389
Wrinkly Skin Syndrome	Delayed eruption of teeth, Thick cerebral cortex, Cerebellar vermis hypoplasia, Short stature, Ep...	ORPHA:2834
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Hypergonadotropic hypogonadism, Poor wound healing, Retrognathia, Ptosis	OMIM:212112
Arthrogryposis, Distal, Type 3	Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula	OMIM:114300
Martsolf Syndrome 1	Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Hypogonadotropic hypogonadism, Epicanthu...	OMIM:212720
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed ...	OMIM:615109
Wt Limb-Blood Syndrome	Retrognathia, Micrognathia	OMIM:194350
Meier-Gorlin Syndrome 4	Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cryptorchidism, Birth lengt...	OMIM:613804
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Microcephaly, Hypoplasia of the maxilla, Synophrys, Wide nasa...	OMIM:609460
Autosomal Dominant Cutis Laxa	Dermal translucency, Redundant neck skin, Prematurely aged appearance, Redundant skin, Microcepha...	ORPHA:90348
Van Esch-O'Driscoll Syndrome	Impulsivity, Microcephaly, Esophageal atresia, Tracheoesophageal fistula, Cerebral atrophy, Downt...	OMIM:301030
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Microcephaly, Palpebral edema, Micrognathia	ORPHA:79350
Branchiootic Syndrome 1	Branchial fistula, Retrognathia	OMIM:602588
Van Maldergem Syndrome 2	Epicanthus, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Subcortical band heterotopia...	OMIM:615546
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Ptosis	ORPHA:1540
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Aggress...	ORPHA:464738
Xfe Progeroid Syndrome	Severe short stature, Premature ovarian insufficiency, Prematurely aged appearance, Microcephaly,...	OMIM:610965
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Basal ganglia calcification, Sparse hair, Short stature, Prematu...	OMIM:216400
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un...	ORPHA:2751
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Microcephaly, Subm...	OMIM:301043
Rauch-Steindl Syndrome	Epicanthus, Telecanthus, Short stature, Highly arched eyebrow, Microcephaly, Postnatal growth ret...	OMIM:619695
Treacher-Collins Syndrome	Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H...	ORPHA:861
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Microcephaly, Aggressive behavior, Submucous cleft hard palate, Downtur...	OMIM:619680
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Sparse scalp hair, Prominent superficial veins, Alopecia, Short stature, Spars...	OMIM:614008
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short stature, Progeroid facial appearance, Basal ganglia calcification, Upslanted palpebral fiss...	OMIM:617763
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O...	ORPHA:2753
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula	OMIM:601492
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Epicanthus, Short stature, Optic nerve hypoplasia, Micrognathia, Postnatal growth retardation, Hy...	OMIM:300749
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Sparse eyelashes, Absent nipple, Concave nail, Hypoplasia of the ma...	OMIM:305100
Holoprosencephaly 9	Hypoplasia of the premaxilla, Optic nerve hypoplasia, Abnormal cortical gyration, Hypoplasia of t...	OMIM:610829
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin...	ORPHA:363618
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Persistence...	ORPHA:763
Frontorhiny	Pericallosal lipoma, Epicanthus, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplastic fro...	ORPHA:391474
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Abn...	ORPHA:457279
Bor Syndrome	Branchial cyst, Retrognathia, Cleft palate	ORPHA:107
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Mild postnatal growth retardation, ...	OMIM:101800
Alg11-Cdg	Cerebral white matter atrophy, Microcephaly, Cerebral atrophy, Dry skin, Abnormal cerebral white ...	ORPHA:280071
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Epicanthus, Short stature, Abnormal cortical gyration, Multiple pterygia, Hypo...	OMIM:177980
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate, Micrognathia	ORPHA:93316
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Telecanthus, Redundant neck skin, Supernumerary nipple, Microcephaly, Low anterior hairline, Low ...	OMIM:604314
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Basal ganglia calcification, Sparse hair, Prematurely aged appea...	OMIM:133540
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum	OMIM:619142
Gorlin-Chaudhry-Moss Syndrome	Short stature, Abnormal eyelid morphology, Hypoplasia of the maxilla, Low anterior hairline, Uppe...	ORPHA:2095
Weaver Syndrome	Mandibular prognathia, Deep-set nails, Epicanthus, Absent septum pellucidum, Thin nail, Kyphosis,...	OMIM:277590
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Polymicrogyria, Submucous cle...	ORPHA:899
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Hyperactivity, Pachygyria, Rectal prolapse, Gingival overgrowth, Narro...	OMIM:235510
Brachytelephalangic Chondrodysplasia Punctata	Optic nerve hypoplasia, Proportionate short stature, Cervical kyphosis, Hypoplasia of the maxilla...	ORPHA:79345
W Syndrome	Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus...	OMIM:615582
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Intrauterine growth retardation, Short stature, Progeroid facial appearance	ORPHA:50811
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prominent superficial veins, Decreased adipose tissue around neck, Brittle hair, Alopecia, Proger...	OMIM:608612
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Microcephaly, Growth delay, Upslanted palpebral fissure, Retrognathia, Ptosis	OMIM:619758
Basilicata-Akhtar Syndrome	Epicanthus, Retrognathia, Downslanted palpebral fissures, Telecanthus	OMIM:301032
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Blepharophimosis, Frontal hirsutism, Ret...	OMIM:608149
Stickler Syndrome, Type I	Micrognathia, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Malar flattening,...	OMIM:108300
Trisomy 10P	Periventricular white matter hypodensities, Micrognathia, Simplified gyral pattern, Orofacial cle...	ORPHA:171929
Cole-Carpenter Syndrome 2	Microretrognathia, Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Macrocep...	OMIM:616294
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Microcephaly, Micrognathia, Dysphagia, Everted lower lip vermilion, ...	OMIM:608013
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding	OMIM:123500
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent septum pellucidum, Hypoplasia of the max...	ORPHA:87
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Hypoplasia of the maxilla, Bilateral cryptorchidism, Micrognathia, Ank...	OMIM:263650
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Hemimegal...	OMIM:158350
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Epicanthus, Telecanthus, Short stature, Redundant skin, Micrognathia, Postnatal growth retardatio...	OMIM:225410
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Wide nasal bridge, Cerebral atrophy, Cleft palate, D...	OMIM:619124
Autosomal Dominant Robinow Syndrome	Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Alopecia, Short stature, Curl...	ORPHA:3107
White-Kernohan Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Dysplastic corpus callosum, Synophrys, Broad medial eyebr...	OMIM:619426
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Bilateral cryptorchidism, Synophrys, Thoracic kyphosis, Shallow...	OMIM:602535
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Microcephaly, Submucous cleft hard ...	ORPHA:2554
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Micrognathia	OMIM:243440
Thanatophoric Dysplasia Type 1	Redundant skin, Kyphosis, Excessive wrinkled skin, Platyspondyly, Macrocephaly, Lethal short-limb...	ORPHA:1860
Loeys-Dietz Syndrome 4	Eosinophilic infiltration of the esophagus, High, narrow palate, High palate, Broad uvula, Retrog...	OMIM:614816
Native American Myopathy	Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate...	ORPHA:168572
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Micrognathia, Paronychia, De...	ORPHA:125
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard...	ORPHA:2588
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Ectodermal ...	OMIM:614941
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Kyphosis, Keratoconjunctivitis ...	OMIM:616914
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Progeroid facial appearance, Hypoplasia of the pons, Corpus callosum atrophy, Hypogonad...	ORPHA:412057
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Noonan Syndrome With Multiple Lentigines	Short stature, Cryptorchidism, Decreased fertility, Wide nasal bridge, Growth delay, Excessive wr...	ORPHA:500
Saethre-Chotzen Syndrome	Epicanthus, Short stature, Abnormal hair pattern, Hyperlordosis, Hypoplasia of the maxilla, Crypt...	ORPHA:794
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Epicanthus, Short stature, Highly arched eyebrow, Microcephaly, Postnatal growth retardation, Cry...	OMIM:613563
Acquired Partial Lipodystrophy	Generalized hirsutism, Progeroid facial appearance	ORPHA:79087
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Epicanthus, Microcephaly, Megalencephaly, Wide nasal br...	OMIM:613603
Acces Syndrome	Retrognathia, Tracheoesophageal fistula	OMIM:619959
Meier-Gorlin Syndrome 3	Microretrognathia, Short stature, Sparse axillary hair, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:613803
Congenital Myopathy 22B, Severe Fetal	Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, Leukoencephalopathy...	OMIM:620369
Distal Triplication 15Q	Telecanthus, Micrognathia, Kyphosis, Scoliosis, Intrauterine growth retardation, Retrognathia, Da...	ORPHA:314588
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Agenesis of corp...	OMIM:200990
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Relative macrocephaly, Dental crowding, Impulsivity, Aggressive behavior, Dysplastic corpus callo...	OMIM:300967
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Cerebellar vermis hypoplasia, Highly arched eyebrow, Micrognathia, Postnat...	OMIM:619135
Glycine Encephalopathy With Normal Serum Glycine	Microcephaly, Long eyelashes, Hypoplasia of the corpus callosum, Retrognathia, Ptosis	OMIM:617301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in infancy, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the ...	OMIM:614643
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar...	OMIM:154500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Ectodermal dysplasia, Sparse hair, Hypogonadotropic hypogonadism, Spar...	OMIM:129900
Carpenter Syndrome 1	Epicanthus, Telecanthus, Short stature, Persistence of primary teeth, Hypoplasia of the maxilla, ...	OMIM:201000
Branchioskeletogenital Syndrome	Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Carious teeth, Abnormality of the...	ORPHA:1299
Deeah Syndrome	Death in infancy, Malabsorption, Narrow palate, Death in adolescence, Death in childhood, Dysphag...	OMIM:619004
Raine Syndrome	Mandibular prognathia, Natal tooth, Death in infancy, Cerebral calcification, Micrognathia, Protr...	OMIM:259775
Achondrogenesis, Type Ii	Microretrognathia, Stillbirth, Cleft palate, Long philtrum	OMIM:200610
Mogs-Cdg	Thoracic scoliosis, Alopecia, Fair hair, Hirsutism, Hydrocele testis, Long eyelashes, Hypoplasia ...	ORPHA:79330
Atypical Werner Syndrome	Micrognathia, Abnormal hair whorl, Premature graying of hair, Alopecia, Premature ovarian insuffi...	ORPHA:79474
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Cerebellar vermis hypoplasia, Short stature, Highly arched eyebrow, Microc...	OMIM:620083
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Diffuse cerebral atrophy, Epicanthus, Micrognathia, Postnatal growth retardation, ...	ORPHA:83617
Orofaciodigital Syndrome Xvi	Retrognathia, Hamartoma of tongue	OMIM:617563
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Microcephaly, Deep philtrum, Cerebral atrophy, High palate, Macrocepha...	ORPHA:1675
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Microcephaly, Micrognathia, Wide nasal bridge, Cerebellar hypoplasia, Sco...	ORPHA:163937
Dystonia 1, Torsion, Autosomal Dominant	Hyperlordosis, Kyphosis, Blepharospasm, Scoliosis, Abnormal posturing	OMIM:128100
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Severe short stature, Abnormal nasolacrimal system morphology, Abnormal de...	ORPHA:2658
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Epicanthus, Sparse eyelashes, Hypoplasia of the maxilla, Sparse eyebrow, Wid...	ORPHA:306542
Buratti-Harel Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula	OMIM:619314
Cardiofaciocutaneous Syndrome 1	Relative macrocephaly, Micrognathia, Open bite, Abnormality of the dentition, Deep philtrum, Subm...	OMIM:115150
Tetrasomy 15Q26	Microretrognathia, Kyphoscoliosis, Intrauterine growth retardation, Downslanted palpebral fissure...	OMIM:614846
Mosaic Trisomy 20	Vertebral fusion, Micrognathia, Kyphosis, Upslanted palpebral fissure, Fused cervical vertebrae, ...	ORPHA:1724
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Epicanthus, Hypopigmentation of hair, Micrognathia,...	OMIM:242840
Intellectual Developmental Disorder, Autosomal Dominant 68	Microcephaly, Wide mouth, High palate, Attention deficit hyperactivity disorder, Retrognathia	OMIM:619934
Marden-Walker Syndrome	Severe short stature, Absent septum pellucidum, Micrognathia, Microcephaly, Kyphosis, Abnormal fo...	ORPHA:2461
Cockayne Syndrome Type 1	Mandibular prognathia, Delayed eruption of primary teeth, Progeroid facial appearance, Postnatal ...	ORPHA:90321
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Collectionism, Hyperactivity, Short lingual frenulum, Micrognathia, Dia...	ORPHA:96121
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Anal stenosis, Thin upper lip vermilion, Hypopl...	OMIM:211380
Microcephaly-Micromelia Syndrome	Microcephaly, Micrognathia, Simplified gyral pattern, Cleft palate, Aplasia/Hypoplasia of the cor...	OMIM:251230
Monosomy 22	Microcephaly, Thin vermilion border, High palate, Long philtrum, Open mouth, Retrognathia	ORPHA:96123
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Malabsorption, Hiatus hernia, Microcephaly, P...	ORPHA:50
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Radio-Renal Syndrome	Downturned corners of mouth, High, narrow palate, Retrognathia, Micrognathia	ORPHA:3015
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Shprintzen-Goldberg Syndrome	Telecanthus, Microcephaly, Hypoplasia of the maxilla, Micrognathia, Abnormal form of the vertebra...	ORPHA:2462
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Kyphoscoliosis, Ptosis	ORPHA:466722
Down Syndrome	Epicanthus, Prematurely aged appearance, Decreased fertility, Upslanted palpebral fissure, Sparse...	ORPHA:870
D-Bifunctional Protein Deficiency	Cerebral dysmyelination, Micrognathia, Corpus callosum atrophy, Cortical dysplasia, High palate, ...	OMIM:261515
Distal Deletion 19P	Hypoplasia of the maxilla, Short philtrum, Cleft palate	ORPHA:96129
Dubowitz Syndrome	Delayed eruption of teeth, Hyperactivity, Micrognathia, Carious teeth, Microcephaly, Velopharynge...	OMIM:223370
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplasia of the maxilla, Ectodermal dysplasia, Hypogonadotropic hypogonadism, Sparse eyebrow, C...	OMIM:604292
Aicardi Syndrome	Prominence of the premaxilla, Cerebellar vermis hypoplasia, Butterfly vertebrae, Block vertebrae,...	OMIM:304050
Huntington Disease-Like 1	Abnormal posturing, Cerebral cortical atrophy, Abnormal basal ganglia morphology	ORPHA:157941
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Epicanthus, Short stature, Hyperconvex nail, Highly arched eyebrow, Microg...	OMIM:614527
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Hypoplasia of the olfactory bulb, Failure of eruption ...	ORPHA:2250
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate, Anter...	OMIM:612863
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Micrognathia, Cortical dysplasia, Hypoplasia of the brainstem, Thin vermilion bo...	OMIM:618343
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Sparse scalp hair, Microcephaly, Postnatal growth retardation, Disproportionate short stature, Up...	OMIM:210720
Werner Syndrome	Short stature, Prematurely aged appearance, Progeroid facial appearance, Hypogonadism, Subcutaneo...	OMIM:277700
Tolchin-Le Caignec Syndrome	Micrognathia, Submucous cleft hard palate, Wide nasal bridge, High palate, Attention deficit hype...	OMIM:618971
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Epicanthus, Kyphoscoliosis, Poor wound healing, Excessive wrinkled skin, Platyspondyly, Follicula...	OMIM:225400
Saul-Wilson Syndrome	Prominent superficial veins, Short stature, Progeroid facial appearance, Micrognathia, Postnatal ...	OMIM:618150
Zttk Syndrome	Relative macrocephaly, Abnormality of the dentition, Hypoplasia of the maxilla, Dysplastic corpus...	OMIM:617140
Au-Kline Syndrome	Dental malocclusion, Bifid tongue, Cleft palate, Downturned corners of mouth, Oligodontia, High p...	OMIM:616580
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Broa...	OMIM:277600
Neurocardiofaciodigital Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Thin vermilion border, High palate, Hypoplasia of the...	OMIM:619869
Kid Syndrome	Cerebellar vermis hypoplasia, Sparse eyelashes, Progeroid facial appearance, Postnatal growth ret...	ORPHA:477
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Short stature, Prematurely aged appearance, Progeroid faci...	ORPHA:90153
Bohring-Opitz Syndrome	Micrognathia, Microcephaly, Cleft lip, Wide nasal bridge, Cleft palate, Hypoplasia of the corpus ...	ORPHA:97297
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Micr...	OMIM:610828
Shprintzen-Goldberg Craniosynostosis Syndrome	Telecanthus, Microcephaly, Hypoplasia of the maxilla, Micrognathia, Cryptorchidism, Dental malocc...	OMIM:182212
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Micrognathia, Microcephaly, Long nose, Submucous cleft hard palate, Bifid uvula, Retrognathia, Ne...	ORPHA:3047
Robinow Syndrome, Autosomal Recessive 1	Vertebral fusion, Short stature, Thoracolumbar scoliosis, Thoracic hemivertebrae, Micrognathia, C...	OMIM:268310
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Severe short stature, Rhizomelia, ...	OMIM:166250
Holoprosencephaly 3	Microcephaly, Cleft lip, Cleft palate, Solitary median maxillary central incisor, Malar flattenin...	OMIM:142945
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Cleft palate	ORPHA:250999
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte...	ORPHA:69085
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W...	OMIM:619194
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Thin upper lip vermilion, Dental crowding, Microcephaly, Cleft palate, Downturned corners of mout...	OMIM:301044
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Entropion, Redundant skin, Kyphoscoliosis, Bilateral cryptor...	OMIM:617403
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula, Microcephaly	OMIM:617660
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cleft soft palate, Microcephaly, Aggressive behavior, Pyloric stenosis, Supernumerary tooth, Hypo...	ORPHA:268261
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Growth delay, Platyspondyly, Delayed eruption of permanent teeth, Sc...	OMIM:619269
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin, Macrocephaly	ORPHA:137608
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Lacrimal duct stenosis, Carious teeth, Periorbital dermoid cyst, Dental malocc...	OMIM:615560
Acrofacial Dysostosis 1, Nager Type	Short stature, Sparse lower eyelashes, Micrognathia, Microcephaly, Trismus, Temporomandibular joi...	OMIM:154400
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Orofaciodigital Syndrome I	Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia...	OMIM:311200
Stankiewicz-Isidor Syndrome	Hyperactivity, Retrognathia, Micrognathia	OMIM:617516
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Malabsorp...	ORPHA:2136
Myhre Syndrome	Mandibular prognathia, Vertebral fusion, Short stature, Microcephaly, Hypoplasia of the maxilla, ...	OMIM:139210
Rubinstein-Taybi Syndrome 1	Facial hypertrichosis, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Low ant...	OMIM:180849
Arterial Tortuosity Syndrome	Progeroid facial appearance, Micrognathia, Telangiectases of the cheeks, Cutis laxa, Ischemic str...	OMIM:208050
Cranioectodermal Dysplasia 2	Unilateral ptosis, Epicanthus, Telecanthus, Rhizomelia, Short stature, Sparse eyelashes, Microgna...	OMIM:613610
Nijmegen Breakage Syndrome	Anal stenosis, Microcephaly, Deep philtrum, Non-midline cleft lip, Cleft palate, Attention defici...	ORPHA:647
Hermansky-Pudlak Syndrome 10	Smooth philtrum, Retrognathia, Cerebral atrophy, Microcephaly	OMIM:617050
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Epicanthus, Postnatal growth retardation, Narrow palpebral fissure, Intrauterine growth retardati...	ORPHA:254528
Arterial Tortuosity Syndrome	Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Abnormal zygomatic bone ...	ORPHA:3342
Webb-Dattani Syndrome	Secondary microcephaly, Retrognathia, Short stature, Hypoplasia of the corpus callosum	OMIM:615926
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse...	OMIM:224900
Pseudoxanthoma Elasticum	Cerebral calcification, Telangiectasia of the skin, Lack of skin elasticity, Excessive wrinkled s...	ORPHA:758
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Sparse pubic hair, Breast aplasia, Decreased te...	ORPHA:3044
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Cut...	OMIM:606721
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Microcephaly, Cleft palate, A...	ORPHA:2166
Diamond-Blackfan Anemia	Cleft soft palate, Microcephaly, Micrognathia, Cleft lip, Wide nasal bridge, High palate, Adenoca...	ORPHA:124
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Dysmenorrhea, Progeroid facial appearance, Micrognathia, Sec...	ORPHA:280365
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Ptosis, Epicanthus, Redundant neck skin, Short stature, Microcephaly, Frontal hirsutism, Wide nas...	OMIM:617157
Renal Hypodysplasia/Aplasia 1	Retrognathia, Primary amenorrhea	OMIM:191830
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Intestinal malrotation, Cleft soft palate, Microcephaly, Downturned corne...	OMIM:619321
Microphthalmia With Limb Anomalies	Death in infancy, Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxi...	ORPHA:1106
Fg Syndrome 4	Wide nasal bridge, Scoliosis	OMIM:300422
Coffin-Siris Syndrome 1	Dry hair, Partial agenesis of the corpus callosum, Spina bifida occulta, Dandy-Walker malformatio...	OMIM:135900
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Cohen-Gibson Syndrome	Epicanthus, Thin nail, Cryptorchidism, Wide nasal bridge, Scoliosis, Macrocephaly, Small nail, Re...	OMIM:617561
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, High, narrow palate, Long philtrum	ORPHA:1101
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Progeroid facial appear...	OMIM:615919
Camptodactyly Syndrome, Guadalajara, Type Iii	Telecanthus, Symblepharon, Spina bifida occulta, Malar flattening, Retrognathia	OMIM:611929
Meier-Gorlin Syndrome 1	Death in infancy, Microcephaly, Hypoplasia of the maxilla, Micrognathia, Cleft palate, High palat...	OMIM:224690
Trisomy 8P	Microcephaly, Malrotation of small bowel, Cleft palate, Thin vermilion border, Short nose, Retrog...	ORPHA:264450
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormally ossified vertebrae, Severe short stature, Alopecia, Micrognathia, Microcephaly, Crypto...	ORPHA:2636
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula	OMIM:601552
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cleft palate, High...	OMIM:600920
Greenberg Dysplasia	Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Punctate vertebral calcifications, Hypoplast...	OMIM:215140
Osteopetrosis With Renal Tubular Acidosis	Cerebral calcification, Persistence of primary teeth, Micrognathia, Basal ganglia calcification, ...	ORPHA:2785
Dubowitz Syndrome	Delayed eruption of teeth, Anal stenosis, Micrognathia, Malabsorption, Microcephaly, Rectal prola...	ORPHA:235
Paternal Uniparental Disomy Of Chromosome 6	Micrognathia, Gingival overgrowth, Macroglossia, High palate, Retrognathia	ORPHA:96191
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Micrognathia, Pyloric stenosis, Rectal prolapse, Wide nasal bridge, Death in ch...	OMIM:613177
Craniosynostosis 4	Malar flattening, Retrognathia, Optic nerve hypoplasia, Macrocephaly	OMIM:600775
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology,...	ORPHA:2556
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Micrognathia, Hypoplasia of the maxilla, Hemivertebra...	ORPHA:96334
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Simplified gyral pattern, Downturned corners of mouth, Cerebellar hemi...	ORPHA:500150
Holoprosencephaly 2	Aplasia of the premaxilla, Microcephaly, Submucous cleft hard palate, Bilateral cleft lip and pal...	OMIM:157170
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Microcephaly, Submucous cleft hard palate, Cerebral atrophy, Compulsive behaviors, Hypoplasia of ...	OMIM:618891
Primrose Syndrome	Cerebral calcification, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Irregular...	OMIM:259050
Diamond-Blackfan Anemia 1	Epicanthus, Short stature, Microcephaly, Micrognathia, Spina bifida occulta, Hypoplastic sacral v...	OMIM:105650
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Eye of the tiger anomaly of globus pallidus	ORPHA:216866
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Microcephaly, High palate, Micrognathia	OMIM:614437
Xeroderma Pigmentosum, Complementation Group B	Short stature, Progeroid facial appearance, Microcephaly, Basal ganglia calcification, Hypogonadi...	OMIM:610651
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti...	OMIM:180500
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Short stature, Progeroid facial appearance, Microcephaly	OMIM:300578
Double Outlet Right Ventricle	Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth	ORPHA:3426
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Prematurely aged appearance, Microcephaly, Dry skin, Urticaria, Cutaneous photosen...	ORPHA:220295
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Short stature, Hypoplasia of the premaxilla, Intrauterine grow...	ORPHA:2673
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Short stature, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla...	OMIM:259600
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Broa...	OMIM:608328
Cog1-Cdg	Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Rhizomelia, Kyphoscoliosis, Micro...	ORPHA:263508
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Bifid uvula, Micrognathia	OMIM:601374
Branchiooculofacial Syndrome	Ptosis, Telecanthus, Agenesis of cerebellar vermis, Hypoplastic fingernail, Supernumerary nipple,...	OMIM:113620
Histiocytosis-Lymphadenopathy Plus Syndrome	Short stature, Hypergonadotropic hypogonadism, Azoospermia, Alopecia of scalp, Facial telangiecta...	OMIM:602782
Camptodactyly Syndrome, Guadalajara Type 3	Telecanthus, Symblepharon, Spina bifida occulta, Retrognathia, Thick eyebrow	ORPHA:488434
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Downturned corners of mouth,...	OMIM:619503
Vacterl With Hydrocephalus	Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Intrauterine growth retardati...	ORPHA:3412
Neuroocular Syndrome	Thick eyebrow, Brittle hair, Short stature, Highly arched eyebrow, Microcephaly, Lagophthalmos, S...	OMIM:619539
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Cerebellar vermis hypoplasia, Hamartoma of tongue, Micrognathia, ...	OMIM:615948
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Premature ovarian insuffic...	ORPHA:99413
Turner Syndrome	Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Premature ovarian insuffic...	ORPHA:881
Mosaic Monosomy X	Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Premature ovarian insuffic...	ORPHA:99228
Monosomy X	Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Premature ovarian insuffic...	ORPHA:99226
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Micrognathia, Abnormality of the gingiva, Dysph...	ORPHA:798
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Progeroid facial appearance, Microcephaly, Micrognathia, Scolios...	OMIM:614098
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Cleft of chin, Cleft palate, Narrow palate, Malar flattening	OMIM:101400
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Microcephaly, Micrognathia, Cryptorchidism...	OMIM:619488
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large ba...	ORPHA:261537
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Reduced subcutaneous adipose tissue, Prominent superficial veins, Entropio...	OMIM:617402
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Retrognathia, Ischemic stroke	ORPHA:91387
Microphthalmia, Syndromic 6	Micrognathia, Microcephaly, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, High palate,...	OMIM:607932
Loeys-Dietz Syndrome 1	Eosinophilic infiltration of the esophagus, Micrognathia, Cleft palate, Malar flattening, Retrogn...	OMIM:609192
Posterior Urethral Valve	Postnatal growth retardation, Retrognathia	ORPHA:93110
Viss Syndrome	Microretrognathia, Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Micr...	OMIM:619472
Marfan Syndrome	Dental crowding, Micrognathia, Open bite, Abnormal zygomatic bone morphology, High, narrow palate...	ORPHA:558
Carpenter Syndrome 2	Epicanthus, Highly arched eyebrow, Supernumerary nipple, Carious teeth, Bilateral cryptorchidism,...	OMIM:614976
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Pachygyria, Agenesis of corpus callosum, Self-mutilation, Bifid uvu...	OMIM:607872
Floating-Harbor Syndrome	Restlessness, Impulsivity, Persistence of primary teeth, Hypoplasia of the maxilla, Celiac diseas...	ORPHA:2044
Orofaciodigital Syndrome Type 14	Microretrognathia, Hamartoma of tongue, Microcephaly, Accessory oral frenulum, Supernumerary toot...	ORPHA:434179
Mandibuloacral Dysplasia Progeroid Syndrome	Short stature, Progeroid facial appearance, Micrognathia, Postnatal growth retardation, Sparse ey...	OMIM:619127
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Retrognathia	OMIM:618022
Hereditary Angioedema Type 1	Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dysphagia, Abnormal uvula morpho...	ORPHA:100050
Classical Ehlers-Danlos Syndrome	Epicanthus, Abnormality of the temporomandibular joint, Prematurely aged appearance, Striae diste...	ORPHA:287
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Intestinal malrotation, Micrognathia, Esophageal atresia, Cleft lip, Tracheo...	OMIM:265380
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large ba...	ORPHA:2152
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Primary amenorrhea, Micrognathia	ORPHA:2975
Meckel Syndrome 14	Microretrognathia, Retrognathia, Cyanosis, Micrognathia	OMIM:619879
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation	ORPHA:225147
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large ba...	ORPHA:261552
Peters-Plus Syndrome	Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Postnatal growth retardation, Microcephaly, ...	OMIM:261540
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Microcephaly, Supernumerary tooth, Submu...	OMIM:300166
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Vascular Ehlers-Danlos Syndrome	Dermal translucency, Telecanthus, Hypoplastic lacrimal duct, Short stature, Epicanthus, Redundant...	ORPHA:286
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Aplasia/Hypoplasia of the cerebra...	OMIM:235730
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate	OMIM:614557
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ...	OMIM:301068
Campomelic Dysplasia	Relative macrocephaly, Irregular dentition, Micrognathia, Carious teeth, Narrow mouth, Submucous ...	OMIM:114290
Williams Syndrome	Redundant skin, Micrognathia, Hypoplastic toenails, Abnormal form of the vertebral bodies, Verteb...	ORPHA:904
Restrictive Dermopathy 1	Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Stillb...	OMIM:275210
Coffin-Siris Syndrome 12	Micrognathia, Celiac disease, Microcephaly, Velopharyngeal insufficiency, Submucous cleft hard pa...	OMIM:619325
Proteasome-Associated Autoinflammatory Syndrome 1	Short stature, Progeroid facial appearance, Sparse axillary hair, Basal ganglia calcification, Er...	OMIM:256040
Unilateral Polymicrogyria	Cyanosis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria, Abnormal posturing	ORPHA:268943
Campomelia, Cumming Type	Abnormally ossified vertebrae, Prematurely aged appearance	ORPHA:1318
Aneurysm-Osteoarthritis Syndrome	Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula	ORPHA:284984
Marfan Syndrome	Dental crowding, Micrognathia, Narrow palate, High palate, Malar flattening, Retrognathia	OMIM:154700
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Cerebral white matter atrophy, Telecanthus, Short stature, Abnormal globus pallidus morphology, D...	ORPHA:99646
Cerebrotendinous Xanthomatosis	Abnormality of the vertebral spinous processes, Prematurely aged appearance, Abnormal eyelid morp...	ORPHA:909
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut...	OMIM:123700
Singleton-Merten Syndrome 1	Short stature, Hypoplasia of the maxilla, Carious teeth, High anterior hairline, Eruption failure...	OMIM:182250
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Short stature, Absent septum pellucidum, Almond-shaped palpebral fissure, Cryptorchidism, Hypopla...	ORPHA:438213
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Loeys-Dietz Syndrome 2	Eosinophilic infiltration of the esophagus, Micrognathia, Cleft palate, Malar flattening, Retrogn...	OMIM:610168
Scleromyxedema	Generalized abnormality of skin, Aged leonine appearance	ORPHA:167635
Craniofacial Microsomia 1	Ptosis, Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Blepharophimosis, Hemivertebrae...	OMIM:164210
Restrictive Dermopathy	Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow...	ORPHA:1662
Acquired Generalized Lipodystrophy	Generalized hirsutism, Progeroid facial appearance	ORPHA:79086
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the maxilla, Kyphosis, Disproportionate short-trunk short sta...	OMIM:300106
Loeys-Dietz Syndrome 3	Eosinophilic infiltration of the esophagus, Dental malocclusion, Cleft palate, High palate, Malar...	OMIM:613795
Early Infantile Epileptic Encephalopathy	Diffuse cerebral atrophy, Hyperactivity, Microcephaly, Diffuse white matter abnormalities, Cleft ...	ORPHA:1934
Pmm2-Cdg	Mandibular prognathia, Epicanthus, Cerebellar vermis hypoplasia, Hypogonadotropic hypogonadism, K...	ORPHA:79318

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 Cask

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 Cask.

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

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
Cask^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cask^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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