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Gene: Foxn3 MGI:1918625

Gene Summary

Name:

forkhead box N3

Synonyms:

5430426H20Rik, Ches1, Ches1l, HTLFL1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Foxn3^em1(IMPC)Bay	HOM		Early adult	0.00
decreased prepulse inhibition		Foxn3^em1(IMPC)Bay	HET		Early adult	7.48×10^-07

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

7 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Eye Morphology

VIP of right eye

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Foxn3 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 Foxn3 (0 diseases)
Human diseases predicted to be associated with Foxn3 (698 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Foxn3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Larsen-Like Syndrome	Joint laxity, Short stature, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cleft p...	OMIM:608545
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Mandibular condyle aplasia, Temporomandibular joint ...	OMIM:614669
Potocki-Lupski Syndrome	Mandibular prognathia, Small for gestational age, Dental crowding, Short stature, Microcephaly, M...	OMIM:610883
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Kyphosis, Dental maloccl...	ORPHA:2471
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Micrognathia, Cleft palate, Cerebellar hypoplasia, Microphthalmia, Arthrogryposis m...	OMIM:616570
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Relative macrocephaly, Mandibular prognathia, Dental malocclusion, High palate, Mild short stature	OMIM:618292
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Dental maloccl...	ORPHA:61
Rubinstein-Taybi Syndrome 2	Short stature, Intestinal malrotation, Micrognathia, Microcephaly, Carious teeth, Talon cusp, Den...	OMIM:613684
Craniosynostosis 3	Sagittal craniosynostosis, Partial agenesis of the corpus callosum, Dental malocclusion, Left uni...	OMIM:615314
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Intellectual Developmental Disorder, Autosomal Recessive 39	Kyphoscoliosis, Dental malocclusion, Short stature, Microcephaly	OMIM:615541
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Achilles tendon contracture, Dental malocclusion,...	OMIM:619719
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Short stature, Abnormality of the dentition, Kyphosis, Dental malocclusion...	ORPHA:1858
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Microcephaly, Growth delay, High palate, Narrow mouth, Microphthalmia, Retrognathia	ORPHA:2528
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi...	ORPHA:763
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Joint laxity, Short stature, Camptodactyly of finger, Kyph...	OMIM:612350
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi...	OMIM:601390
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Narrow mouth, Dental malocclusion, Cleft palate, Mandib...	OMIM:602483
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Sacral dimple, Short stature, Camptodactyly of finger, Microcephaly, Open ...	ORPHA:1327
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, High, narrow palate, Dental malocclusion	OMIM:619692
Seckel Syndrome 1	Cerebellar vermis hypoplasia, Dental crowding, Selective tooth agenesis, Proportionate short stat...	OMIM:210600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Thoracic scoliosis, Short stature, Microcephaly, Hypoplasia of the pons, Micrognathia, Partial ag...	OMIM:616171
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Three M Syndrome 2	Delayed eruption of teeth, Relative macrocephaly, Severe short stature, Small for gestational age...	OMIM:612921
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion	OMIM:155050
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion	OMIM:608931
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Cerebral white matter atrophy, Micrognathia, Deep philtrum,...	ORPHA:329178
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Harrod Syndrome	Microcephaly, Kyphosis, Dental malocclusion, Joint hyperflexibility, High palate, Scoliosis, Narr...	ORPHA:2115
Fanconi Anemia, Complementation Group S	Macrodontia, Short stature, Microcephaly, Dental malocclusion, Narrow palate, Microphthalmia, Fai...	OMIM:617883
Marden-Walker Syndrome	Micrognathia, Short neck, High, narrow palate, Congenital contracture, Hypoplasia of the brainste...	OMIM:248700
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Pro...	OMIM:300602
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle...	OMIM:144750
Filippi Syndrome	Microcephaly, Postnatal growth retardation, Thin vermilion border, Short philtrum, Hypodontia, De...	OMIM:272440
Cofs Syndrome	Cerebral calcification, Short stature, Camptodactyly of finger, Joint stiffness, Microcephaly, Mi...	ORPHA:1466
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Short stature, Kyphoscoliosis, Microcephaly, Micrognathia, Perisylv...	OMIM:600118
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Mulibrey Nanism	Dental crowding, Short stature, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal si...	OMIM:253250
Momo Syndrome	Delayed eruption of teeth, Short stature, Large for gestational age, Short neck, Thick lower lip ...	ORPHA:2563
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth, Short stature	OMIM:616108
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Short stature, Microcephaly, Open bite, Dental...	ORPHA:3079
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Micrognathia, Short neck, Wide anterior f...	ORPHA:163649
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Irregular dentition, Tented upper lip vermilion, Sacral dimple, Microgn...	OMIM:615546
Acrootoocular Syndrome	Delayed eruption of teeth, Small for gestational age, Short stature, Kyphoscoliosis, Microcephaly...	ORPHA:2980
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Myopathy, Myofibrillar, 8	Micrognathia, Spinal rigidity, Distal joint laxity, Achilles tendon contracture, Dental malocclus...	OMIM:617258
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Osteopenia, Thin upper lip vermilion, Ivory epiphyses of the distal ph...	OMIM:190350
Pierpont Syndrome	Joint laxity, Thin upper lip vermilion, Small for gestational age, Abnormal cortical gyration, Sh...	ORPHA:487825
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Short stature, Microcephaly, Cleft palate, Thin vermilion border, Narrow mouth, In...	OMIM:615502
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Short stature, Microcephaly,...	OMIM:216550
2Q24 Microdeletion Syndrome	Small for gestational age, Camptodactyly of finger, Short neck, Cleft palate, Growth delay, Abnor...	ORPHA:1617
Frank-Ter Haar Syndrome	Osteopenia, Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M...	OMIM:249420
Craniometadiaphyseal Dysplasia	Osteopenia, Natal tooth, Mandibular prognathia, Dental crowding, Short stature, Megalencephaly, C...	OMIM:269300
Muenke Syndrome	Capitate-hamate fusion, Dental malocclusion, High palate, Macrocephaly, Malar flattening, Coronal...	OMIM:602849
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Craniosynostosis, Microcephaly, Micrognathia, Wide anterior fontanel, H...	OMIM:182212
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Diastema, Short neck, Dental malocclusion, Malar flattening	ORPHA:436245
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Short stature, Micrognathia, Hypoplasia of the maxill...	OMIM:257850
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Sacral dimple, Dental crowding, Cleft soft palate, Short stature, Micro...	OMIM:616331
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardation, Dental maloccl...	OMIM:608940
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Malar prominence, Micrognathia, Kyphosis, Osteoporosis, S...	ORPHA:48431
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal...	ORPHA:166108
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Wide...	OMIM:601216
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Micrognathia, Basal ganglia calcification, Flexion contracture, Knee fl...	OMIM:214150
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Small for gestational age, Selective...	ORPHA:2959
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, High palate, Sho...	ORPHA:251028
Gombo Syndrome	Microphthalmia, Delayed puberty, Microcephaly	OMIM:233270
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Pierpont Syndrome	Short stature, Microcephaly, Short neck, Broad philtrum, Prominent median palatal raphe, Thin ver...	OMIM:602342
Atkin-Flaitz Syndrome	Short stature, Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilio...	ORPHA:1193
Seckel Syndrome 2	Small for gestational age, Short stature, Micrognathia, Microcephaly, Growth delay, Cerebellar hy...	OMIM:606744
Turnpenny-Fry Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Downturned corners of mouth...	OMIM:618371
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Micrognathia, Post...	OMIM:619135
Chromosome 16Q22 Deletion Syndrome	Small for gestational age, Microcephaly, Micrognathia, Wide anterior fontanel, Postnatal growth r...	OMIM:614541
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Microcephaly, Orofacial cleft, Microphthalmia	ORPHA:3434
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Cerebellar vermis hypoplasia, Short stature, Malar flattenin...	ORPHA:364028
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Obesity, T...	OMIM:157980
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Small for gestational age, Mild postnatal growt...	OMIM:101800
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Hypoplasia of the pons, Flexion ...	OMIM:619293
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Microphthalmia,...	OMIM:615524
Cri-Du-Chat Syndrome	Microretrognathia, Small for gestational age, Microcephaly, Short neck, Thick lower lip vermilion...	OMIM:123450
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate, Large for gestational age	ORPHA:2432
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Small for gestational age, Short stature, Microcephaly, Hypoplasia of the ...	ORPHA:93950
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Hyperlordosis, Supernum...	OMIM:234100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Microcephaly	OMIM:616335
Heart And Brain Malformation Syndrome	Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Wide anterior fontanel, High...	OMIM:616920
Zimmermann-Laband Syndrome	Micrognathia, Short neck, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open...	ORPHA:3473
Kabuki Syndrome 2	Joint laxity, Natal tooth, Short stature, Microcephaly, Micrognathia, Postnatal growth retardatio...	OMIM:300867
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Macrocephaly,...	OMIM:300676
Bartsocas-Papas Syndrome 2	Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Bilateral cleft lip and palate, Mi...	OMIM:619339
Lowry-Maclean Syndrome	Osteopenia, Delayed eruption of primary teeth, Craniosynostosis, Microcephaly, Midgut malrotation...	ORPHA:2409
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Microcephaly, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Dental crowding, Short stature, Pierre-Robin sequence, Ante...	OMIM:617877
Cerebellar-Facial-Dental Syndrome	Failure to thrive, Severe short stature, Foot joint contracture, Infancy onset short-trunk short ...	ORPHA:444072
Microphthalmia, Syndromic 13	Short stature, Kyphoscoliosis, Microcephaly, Microphthalmia, Widely-spaced incisors	OMIM:300915
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Short stature, Micr...	ORPHA:363417
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Microcephaly, Orofacial cleft, Cleft palate, Widely-space...	OMIM:601349
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Cerebral atrophy, Downturned corners of ...	OMIM:618729
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Vertebral clefting, Cleft palate, To...	ORPHA:1248
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Short stature, Hypoplasia of the maxilla, Multiple small vertebral fractures, Premature loss of t...	OMIM:156510
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental crowding, Short stature, Limited elbow movement, Joint stiffness, Micro...	OMIM:614008
Myopathy, Centronuclear, X-Linked	Pyloric stenosis, Flexion contracture, Dental malocclusion, High palate, Macrocephaly, Dandy-Walk...	OMIM:310400
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Microcephaly, Elbow flexion contracture, Dental m...	ORPHA:2920
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Short stature, Short neck, Retrognathia, Orofacial cleft, Wide mouth, S...	OMIM:614583
Schwartz-Jampel Syndrome	Micrognathia, Short neck, High palate, Wrist flexion contracture, Long philtrum, Pursed lips, Inc...	ORPHA:800
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Smooth philtrum, Abnormality of the dentition, Carious teeth, Dysplastic corpus callosum, Velopha...	ORPHA:363444
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros...	OMIM:300373
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Short stature, Micrognathia, Microcephaly, Abnormality of the dentition, Thick lower lip vermilio...	ORPHA:85321
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teet...	OMIM:102500
Monosomy 18P	Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Microcephaly, Short neck, Cleft palat...	ORPHA:1598
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Relative macrocephaly, Failure to thrive, Sh...	OMIM:115150
Holoprosencephaly 9	Anophthalmia, Short stature, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hy...	OMIM:610829
Lujan-Fryns Syndrome	Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Abnormality of...	ORPHA:776
Cerebrooculofacioskeletal Syndrome 2	Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Micrognathia, Microcephaly, G...	OMIM:610756
Fetal Alcohol Syndrome	Thin upper lip vermilion, Short stature, Microcephaly, Micrognathia, Joint stiffness, Non-midline...	ORPHA:1915
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel,...	OMIM:620099
Cerebellofaciodental Syndrome	Short stature, Microcephaly, Hypoplasia of the pons, Short neck, Dental malocclusion, Taurodontia...	OMIM:616202
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Cerebral atrophy, Growth delay, Microphthalmia, Failure to thrive, Agenesis of corp...	OMIM:274270
Short Syndrome	Delayed eruption of teeth, Joint laxity, Rieger anomaly, Small for gestational age, Micrognathia,...	OMIM:269880
Dysostosis, Stanescu Type	Increased bone mineral density, Cerebral calcification, Short stature, Abnormal dental enamel mor...	ORPHA:1798
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Camptodactyly of finger, Short stature, Microcephaly, Micrognathia,...	OMIM:610758
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Macrocephaly, Short stature, Microcephaly	OMIM:620062
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microcephaly, Micrognathia, Knee flexion contracture, Widely spaced teeth, Camptodactyly, Microdo...	OMIM:619694
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Agenesis of corpu...	OMIM:101200
Sandestig-Stefanova Syndrome	Small for gestational age, Short neck, Orofacial cleft, High palate, Hypoplasia of the corpus cal...	OMIM:618804
Noonan Syndrome 4	Short stature, Large for gestational age, Short neck, Dental malocclusion, Wide mouth, Thick verm...	OMIM:610733
Braddock-Carey Syndrome 2	Microcephaly, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia	OMIM:619981
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Micrognathia, Short neck, Downturned corners of mouth, Platyspondyly, Short philtrum,...	ORPHA:93267
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short stature, Micrognathia, Short neck, Cleft lip, Kyphosis, Dental malocclusion,...	OMIM:616894
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Cockayne Syndrome B	Mandibular prognathia, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand,...	OMIM:133540
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Osteopenia, Short stature, Microcephaly, Postnatal growth retardation,...	OMIM:619489
Takenouchi-Kosaki Syndrome	Smooth philtrum, Thin upper lip vermilion, Dental malocclusion, Downturned corners of mouth, Abno...	OMIM:616737
Frontonasal Dysplasia 1	Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wi...	OMIM:136760
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vert...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vert...	ORPHA:352665
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Persistence of primary teeth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Subaortic Stenosis-Short Stature Syndrome	Short stature, Micrognathia, Short neck, Kyphosis, Obesity, Scoliosis, Microdontia, Microphthalmi...	ORPHA:3191
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract...	OMIM:265000
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Microcephaly, Hypoplasia of the maxilla, High palate, Mac...	ORPHA:85279
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia, Small for gestational age, Microcephaly	OMIM:278780
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Open mouth, Dental malocclusion	OMIM:619149
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Short stature, Microcephaly, Pachygyria, Cleft upper lip, Postnatal gro...	OMIM:243310
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Subcortical band heterotopi...	OMIM:618737
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hemivertebrae, Cleft palate, Growth ...	ORPHA:85284
Phelan-Mcdermid Syndrome	Sacral dimple, Microcephaly, Micrognathia, Dental malocclusion, High palate, Widely spaced teeth,...	OMIM:606232
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ...	ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Flexion contracture, Macroglossia, Hypoplasia of the ...	OMIM:613155
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen...	OMIM:615771
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Temtamy Syndrome	Micrognathia, Thick lower lip vermilion, Aplasia/Hypoplasia of the corpus callosum, Joint hyperfl...	ORPHA:1777
Warburg Micro Syndrome 3	Kyphoscoliosis, Microcephaly, Micrognathia, Postnatal growth retardation, Flexion contracture, Na...	OMIM:614222
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Periventricular leukomalacia, Small for gestational age, Microcephaly	OMIM:618302
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short stature, Camptodactyly of finger, Cleft upper lip, Hypoplasia of...	ORPHA:915
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Short stature, Obes...	ORPHA:193
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Narrow mouth, Fl...	OMIM:614833
Micro Syndrome	Cerebellar vermis hypoplasia, Short stature, Joint stiffness, Microcephaly, Micrognathia, Kyphosi...	ORPHA:2510
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Long philtrum, Fused thoracic vert...	ORPHA:97360
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Pyloric ste...	ORPHA:96184
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Cleft palate, Radioulnar synostosis, Carp...	OMIM:605282
Microphthalmia, Syndromic 2	Anophthalmia, Flexion contracture, Oligodontia, Fused teeth, Contracture of the proximal interpha...	OMIM:300166
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Micrognathia, Short neck, Hemivertebrae, Simplified gyral pattern, High p...	ORPHA:96121
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, L...	ORPHA:90653
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate, High palate, Camptodactyly	OMIM:246560
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Small for gestational age, Short stature, Hypoplasia of the maxilla, Intrauterine gro...	OMIM:608154
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Dental malocclus...	OMIM:618975
Au-Kline Syndrome	Failure to thrive, Sacral dimple, Thoracolumbar scoliosis, Sagittal craniosynostosis, Craniosynos...	OMIM:616580
Microphthalmia With Limb Anomalies	Sacral dimple, Anophthalmia, Cleft upper lip, Postnatal growth retardation, Capitate-hamate fusio...	OMIM:206920
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Posterior wed...	ORPHA:50814
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short stature, Osteolysis, Abnormality of the dentition	ORPHA:2776
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Micrognathia, Short neck, Thin vermilion border, Long philtrum, ...	ORPHA:1438
Hamamy Syndrome	Osteopenia, Thin upper lip vermilion, Recurrent fractures, Craniosynostosis, Micrognathia, Dental...	OMIM:611174
Elsahy-Waters Syndrome	Delayed eruption of teeth, Mandibular prognathia, Anal stenosis, Thin upper lip vermilion, Hypopl...	OMIM:211380
Spondyloenchondrodysplasia	Delayed eruption of teeth, Cerebral calcification, Short stature, Kyphosis, Dental malocclusion, ...	ORPHA:1855
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Failure to thrive, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the...	OMIM:620157
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebr...	ORPHA:79345
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Downturned corners of mouth, Wide mouth, ...	OMIM:618067
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microcephaly, Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Widely spaced teet...	ORPHA:2728
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,...	OMIM:231070
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduce...	OMIM:166220
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion...	ORPHA:666
Atelosteogenesis, Type Iii	Cervical segmentation defect, Rhizomelia, Cervical kyphosis, Micrognathia, Hypoplasia of the maxi...	OMIM:108721
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Mild postnatal growth retardation, Pachygyria, Narrow mouth, Rectal pr...	OMIM:235510
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors, Obesity, Macrocephaly	ORPHA:397973
Sclerosteosis 1	Mandibular prognathia, Sclerotic scapulae, Dental malocclusion, Facial palsy secondary to cranial...	OMIM:269500
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Large for gestational age, Microcephaly, Cuboid-shaped vertebral bodies...	OMIM:612731
Hartsfield Syndrome	Craniosynostosis, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the corpus callosum,...	ORPHA:2117
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Smooth philtrum, Thoracic kyphoscoliosis, Hypoplasia of the maxilla, Flexion contracture, Hyperin...	ORPHA:481152
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis...	OMIM:617306
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Microcephaly, Postnatal growth ret...	OMIM:241410
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet...	ORPHA:192
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
3Q29 Microduplication Syndrome	Craniosynostosis, Microcephaly, Abnormality of the dentition, Short neck, Deep philtrum, Obesity,...	ORPHA:251038
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Exaggerated cupid's bow, Microcephaly, Cleft lip, Deep philtrum, Cleft palate, Shor...	OMIM:620098
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Short stature, Delayed eruption of primary teeth, Microce...	OMIM:216400
Hydrolethalus	Anophthalmia, Absent septum pellucidum, Micrognathia, Submucous cleft hard palate, Anencephaly, C...	ORPHA:2189
Ritscher-Schinzel Syndrome 2	Relative macrocephaly, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Postna...	OMIM:300963
Microcephaly-Micromelia Syndrome	Craniosynostosis, Microcephaly, Micrognathia, Short neck, Humeroradial synostosis, Simplified gyr...	OMIM:251230
Mend Syndrome	Sacral dimple, Short stature, Micrognathia, Asymmetry of the mouth, Wide anterior fontanel, Kypho...	ORPHA:401973
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Abnormality of canine, Pierre-...	ORPHA:364577
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Short stature, Abnormal intervertebral disk morphology, Short nec...	ORPHA:85194
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Smooth philtrum, Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Postnatal gr...	ORPHA:487796
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat...	OMIM:619148
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Failure to thrive, Short stature, Microcephaly, Unilateral microphthalm...	OMIM:618874
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:600251
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Marshall Syndrome	Thick upper lip vermilion, Short stature, Micrognathia, Absent frontal sinuses, Knee osteoarthrit...	OMIM:154780
Localized Scleroderma	Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facial skeleton ...	ORPHA:90289
Nance-Horan Syndrome	Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc...	OMIM:302350
Joubert Syndrome 37	Cerebellar vermis hypoplasia, Short stature, Lumbar hyperlordosis, Obesity, High palate, Hypoplas...	OMIM:619185
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Short stature, Microcephaly, Kyph...	OMIM:303600
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Microcephaly, Kyphosis, Cleft palate, Furrowed tongue, Cerebral atrop...	OMIM:616449
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Short stature, Pe...	OMIM:170390
Cockayne Syndrome	Cerebral calcification, Basal ganglia calcification, Congenital contracture, Abnormal dental morp...	ORPHA:191
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Craniosynostosis, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Micr...	ORPHA:1528
Xk Aprosencephaly Syndrome	Microphthalmia, Narrow mouth, Anal atresia, Microcephaly	ORPHA:3469
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Short philtrum, Decreased body w...	ORPHA:93945
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Craniosynostosis, Microcephaly, Hypoplasia of the maxilla, Abnormality o...	ORPHA:178303
20P12.3 Microdeletion Syndrome	Short stature, Hypoplasia of the maxilla, Narrow mouth, Macrocephaly, Long philtrum, Malar flatte...	ORPHA:261295
Osteopetrosis, Autosomal Recessive 3	Cerebral calcification, Short stature, Basal ganglia calcification, Cranial hyperostosis, Dental ...	OMIM:259730
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Short stature, Hypoplasia of the maxilla, Simplified gyral pattern, Ce...	OMIM:614261
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Microcephaly, Cleft upper li...	OMIM:612530
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Kyphosis, Deep philtrum, Cleft pa...	ORPHA:404440
Meckel Syndrome, Type 8	Anophthalmia, Cleft upper lip, Microcephaly, Short neck, Cleft palate, Microphthalmia	OMIM:613885
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Short stature, Cleft upper lip, Hypoplasia...	OMIM:305400
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Short stature, Mi...	ORPHA:568
Martsolf Syndrome 1	Joint laxity, Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Microcephaly, Micrognathia...	OMIM:212720
Carpenter Syndrome 1	Sacral dimple, Short stature, Sagittal craniosynostosis, Persistence of primary teeth, Micrognath...	OMIM:201000
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Cerebral white matter atrophy, Sacral dimple, Mi...	ORPHA:435638
Moebius Syndrome	Micrognathia, Abnormality of the dentition, Short neck, Hypoplasia of the brainstem, High palate,...	OMIM:157900
Trichothiodystrophy 3, Photosensitive	Natal tooth, Meckel diverticulum, Short stature, Carious teeth, Pyloric stenosis, Eclabion, Micro...	OMIM:616395
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal bones, Metatarsa...	OMIM:166300
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Proportionate short stature, Trismus, Deep philtrum, Hyperextensible hand joint...	OMIM:227330
Oculocerebrocutaneous Syndrome	Anophthalmia, Cleft palate, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpus...	OMIM:164180
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation, Cerebral cortical atrophy, Microcephaly	ORPHA:291
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Short ne...	OMIM:261540
Trisomy 13	Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Kyphosis, Clef...	ORPHA:3378
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Failure to thrive, Short stature, Microcephaly, ...	OMIM:300534
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Short stature, Short neck, Cleft lip, Deep philtrum, Cleft palate, Downturned ...	OMIM:618571
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Megalencephaly, Progressive macrocephaly, Microphthalmia, Cavum septum pellucidum, ...	OMIM:602501
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, M...	OMIM:251270
Mohr Syndrome	Median cleft lip, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla...	OMIM:252100
Martin-Probst Syndrome	Short stature, Micrognathia, Microcephaly, Thick lower lip vermilion, Dental malocclusion, Wide m...	OMIM:300519
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Microcephaly, Hypoplasia of the corpus callosum, Long philtrum, Microphthalmia, Ag...	OMIM:300887
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ...	OMIM:616294
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Cerebellar vermis hypoplasia, High, narrow palate, Cleft palate, Cerebr...	OMIM:618494
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Joint hypermobility, Joint stiffness, Microcephaly, Postnatal growth retardation...	OMIM:619184
Pde4D Haploinsufficiency Syndrome	Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology,...	ORPHA:439822
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Wide anterior fontanel, ...	OMIM:617925
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Duodenal stenosis, Microphth...	ORPHA:2547
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Short stature, Tarsal synostosis, Hypoplasia of the maxilla, Narrow mouth, Cle...	ORPHA:1307
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short stature, Rhizomelia, Micrognathia, Wide mouth, Platyspondyly, Short philtrum, Cerebellar hy...	ORPHA:163966
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Abnormality of primary teeth,...	ORPHA:438216
Mccune-Albright Syndrome	Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ...	ORPHA:562
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Dental malocclusion, High palate, Microphthalmia, Malar flattening, Retrognathia, B...	OMIM:601552
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Diffuse white matter abnormalities, Flexion contracture, High palate, ...	OMIM:218000
Congenital Toxoplasmosis	Cerebral calcification, Failure to thrive in infancy, Microcephaly, Microphthalmia, Intrauterine ...	ORPHA:858
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Dental crowding, Intestinal malrotation, Short stature, Carious teeth,...	ORPHA:353281
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Short stature, Hypoplasia of the maxilla, Abnormality of the vertebral column, Ma...	OMIM:109120
Tetrasomy 5P	Pericallosal lipoma, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Short ne...	ORPHA:3309
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Frontorhiny	Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hy...	ORPHA:391474
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retardation, Hemivertebrae, Punctate ver...	OMIM:302960
Fanconi Anemia, Complementation Group R	Anal atresia, Microcephaly, Agenesis of permanent teeth, Growth delay, Scoliosis, Microphthalmia,...	OMIM:617244
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Obesity, Wide mouth, Macrogl...	OMIM:105830
Crouzon Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Narrow palate, Multiple suture craniosynos...	ORPHA:207
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Neo...	ORPHA:35173
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Abnormality of the vertebral column, Bilateral cleft lip and palate	OMIM:600776
Temtamy Syndrome	Dental crowding, Micrognathia, Thick corpus callosum, Hypoplasia of teeth, Long philtrum, Microph...	OMIM:218340
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Se...	ORPHA:79113
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Agenesis of corp...	OMIM:200990
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d...	ORPHA:861
Adams-Oliver Syndrome 2	Microcephaly, Micrognathia, Cerebral atrophy, Cerebellar hypoplasia, Macrocephaly, Microphthalmia...	OMIM:614219
Toriello-Carey Syndrome	Aganglionic megacolon, Short stature, Microcephaly, Micrognathia, Wide anterior fontanel, Partial...	ORPHA:3338
3Q29 Microdeletion Syndrome	Dental crowding, Microcephaly, Abnormality of the dentition, Orofacial cleft, Joint hyperflexibil...	ORPHA:65286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Abnormally large globe, Flexion contracture, Hypoplasia of the brainstem, Progressi...	OMIM:615249
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Short stature, Frontal open bite, Micrognathia, Postnatal growth retard...	OMIM:225410
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Tooth agenesis, High palate, Cleft palate	ORPHA:1135
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Postnatal growth retardation, Hypoplasia of the corpu...	ORPHA:494344
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,...	OMIM:259600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Microcephaly, Deep philtrum, Thick lower lip ver...	OMIM:152950
Keipert Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Short stature, Hypoplasia of the maxilla, Ma...	ORPHA:2662
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Short stature, Short neck, Bilateral microphthalmos, Downturned corners of...	ORPHA:369891
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Submucous cleft hard palate...	OMIM:613805
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Anteriorl...	OMIM:612289
Nanophthalmos	Microphthalmia	ORPHA:35612
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Microphthalmia, Orofacial cleft, Type II lissencephaly	ORPHA:324416
Craniotelencephalic Dysplasia	Absent septum pellucidum, Optic nerve hypoplasia, Craniosynostosis, Lissencephaly, Cerebellar hyp...	OMIM:218670
Congenital Muscular Dystrophy With Cerebellar Involvement	Lumbar hyperlordosis, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the ...	ORPHA:370959
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Apl...	ORPHA:93262
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffness, Hypoplasia of ...	OMIM:277600
Lissencephaly 8	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corpus callos...	OMIM:617255
Galloway-Mowat Syndrome 3	Failure to thrive, Short stature, Hiatus hernia, Microcephaly, Micrognathia, Narrow mouth, Simpli...	OMIM:617729
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Microcephaly, High palate, Short philtrum, Hypoplasia of the corpus c...	OMIM:614105
17Q12 Microduplication Syndrome	Cortical dysplasia, Tracheoesophageal fistula, Cleft palate, Microphthalmia, Abnormal vertebral m...	ORPHA:261272
Skin Creases, Congenital Symmetric Circumferential, 1	Microcephaly, Micrognathia, Short neck, Cleft palate, High palate, Hypoplasia of the corpus callo...	OMIM:156610
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Aplasia/Hy...	ORPHA:306542
Acrodysostosis	Delayed eruption of teeth, Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Open ...	ORPHA:950
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Smooth philtrum, Short stature, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Mic...	OMIM:300749
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Relative macrocephaly, Natal tooth, Dandy-Walker malformation, Microretrognathia, Rhizomelia, Ham...	OMIM:616300
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Micrognathia, Unilateral alveo...	ORPHA:2751
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Micrognathia, Microcephaly, Postnatal growth retardation, Decreased bo...	OMIM:608747
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios...	OMIM:241310
Nance-Horan Syndrome	Mandibular prognathia, Microphthalmia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Simplified gyral pa...	OMIM:613153
Sanjad-Sakati Syndrome	Intestinal obstruction, Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, ...	ORPHA:2323
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia, Microcephaly	OMIM:614082
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Short stature, Micr...	ORPHA:314679
Warburg Micro Syndrome 4	Short stature, Flexion contracture, Perisylvian polymicrogyria, Severe postnatal growth retardati...	OMIM:615663
Oculodentodigital Dysplasia	Selective tooth agenesis, Microcephaly, Carious teeth, Basal ganglia calcification, Cleft upper l...	OMIM:164200
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Short stature, Microcephaly, Hypoplasia of the maxilla, ...	ORPHA:293939
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, High, n...	ORPHA:464738
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi...	OMIM:603457
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Short stature, Microcephaly, Bilateral microphthalmos, Hemivertebrae, Unilateral m...	OMIM:619318
Galloway-Mowat Syndrome 1	Small for gestational age, Short stature, Hiatus hernia, Pachygyria, Microcephaly, Micrognathia, ...	OMIM:251300
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Failure to thrive, Recurrent fractures, Micrognathia, Hypoplasia of th...	OMIM:601812
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Large for gestational age, Micrognathia, Hypoplasia of t...	OMIM:213980
Walker-Warburg Syndrome	Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Polymicrogyria,...	ORPHA:899
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Conical tooth, Abnormality of the dentition, Microphthalmia, Coron...	ORPHA:228390
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short statu...	ORPHA:37553
3Mc Syndrome 1	Sacral dimple, Dental crowding, Microcephaly, Cleft upper lip, Wide anterior fontanel, Cleft lip,...	OMIM:257920
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of teeth, Growth delay, Microph...	OMIM:234050
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353277
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno...	ORPHA:284984
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microcephaly, Cleft upper lip, Spinal rigidity, Partial absence of cerebellar vermis, Cleft palat...	OMIM:613150
Meier-Gorlin Syndrome 4	Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Thick lower lip vermilion, ...	OMIM:613804
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hypoplasi...	OMIM:620114
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Abnormal cerebral white matter morphology, Cerebral edema	ORPHA:83601
Rapp-Hodgkin Syndrome	Short stature, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Velopharyngeal insufficie...	OMIM:129400
Biemond Syndrome Type 2	Microphthalmia, Short stature, Obesity, Delayed puberty	ORPHA:141333
Stevenson-Carey Syndrome	Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Cerebellar hypoplasia, Hypoplas...	OMIM:611961
Cat-Eye Syndrome	Microphthalmia, Short stature, Anal atresia, Intrauterine growth retardation	ORPHA:195
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly,...	OMIM:615108
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern...	ORPHA:468631
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Mandibular prognathia, Dental crowding, Short stature, Sagittal cranio...	OMIM:614188
Ohdo Syndrome, X-Linked	Smooth philtrum, Micrognathia, Hiatus hernia, Narrow mouth, Thin vermilion border, High palate, W...	OMIM:300895
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig...	OMIM:123500
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Hyperlordosis, Dental malocclusion, Localized hypoplasia ...	ORPHA:73223
Williams Syndrome	Osteopenia, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies, Vertebral segme...	ORPHA:904
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Mandibular prognathia, Small for gestational age, Short stature, Kypho...	OMIM:268400
Chromosome 8Q21.11 Deletion Syndrome	Exaggerated cupid's bow, Micrognathia, Short neck, Cleft palate, Downturned corners of mouth, Gro...	OMIM:614230
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Dental crowding,...	OMIM:309520
Marshall Syndrome	Cerebral calcification, Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormality of th...	ORPHA:560
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Microcepha...	OMIM:608670
Focal Dermal Hypoplasia	Delayed eruption of teeth, Joint laxity, Anophthalmia, Short stature, Intestinal malrotation, Hia...	OMIM:305600
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Joint contracture of the 4th finger, Joint co...	OMIM:618914
2Q31.1 Microdeletion Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Microcephaly, Short neck, Deep philtrum, Ky...	ORPHA:251014
Noonan Syndrome 1	Failure to thrive in infancy, Short stature, Kyphoscoliosis, Micrognathia, Postnatal growth retar...	OMIM:163950
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Micrognathia, Microcephaly, Cleft palate, Long philtrum, Microphthalmia	ORPHA:2505
Joubert Syndrome 14	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Tented upper lip vermilion, Cleft pa...	OMIM:614424
Axenfeld-Rieger Syndrome	Anal stenosis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Growth delay, Everted l...	ORPHA:782
Dubowitz Syndrome	Delayed eruption of teeth, Sacral dimple, Short stature, Microcephaly, Micrognathia, Carious teet...	OMIM:223370
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Camptodactyly of finger, Narrow mouth	ORPHA:1529
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
8Q21.11 Microdeletion Syndrome	Exaggerated cupid's bow, Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Sho...	ORPHA:284160
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Proportionate short stature, Microcephaly, Micrognathia, High, ...	ORPHA:2108
Stromme Syndrome	Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi...	OMIM:243605
Mosaic Trisomy 9	Camptodactyly of finger, Intestinal malrotation, Microcephaly, Micrognathia, Short neck, Limitati...	ORPHA:99776
Cousin Syndrome	Rhizomelia, Micrognathia, Short neck, Humeroradial synostosis, Disproportionate short stature, Al...	OMIM:260660
Branchioskeletogenital Syndrome	Mandibular prognathia, Abnormality of the vertebral spinous processes, Thoracolumbar kyphoscolios...	ORPHA:1299
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat...	ORPHA:289
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Smooth philtrum	OMIM:614526
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly,...	OMIM:615109
Kapur-Toriello Syndrome	Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Short neck, Cleft palate, Joint...	OMIM:244300
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Micrognathia, Mesomelic/rhizomelic ...	ORPHA:2839
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia, Global brain atrophy, Microcephaly	OMIM:308350
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Microphthalmia, Malar flattening, Bifid uvula, Hypoplasia of th...	OMIM:229400
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Short n...	ORPHA:77301
Mosaic Trisomy 1	Microretrognathia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Camptodactyly of finger, Thi...	ORPHA:1692
Microphthalmia With Limb Anomalies	Failure to thrive, Macrodontia, Tarsal synostosis, Hypoplasia of the premaxilla, Micrognathia, Hy...	ORPHA:1106
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Microcephaly, Anencephaly, Cleft palate, Hypoplasia of the corpus ...	OMIM:611134
Acrofacial Dysostosis, Cincinnati Type	Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Decreased bod...	OMIM:616462
Nanophthalmos 4	Microphthalmia	OMIM:615972
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Platyspondyly, Macrocephaly, Microphthalmia, Decreased skull ossificat...	OMIM:300863
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ...	OMIM:617140
Nasopalpebral Lipoma-Coloboma Syndrome	Microcephaly, Hypoplasia of the maxilla, Bilateral microphthalmos, Severe postnatal growth retard...	ORPHA:2399
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia	OMIM:613730
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Vertebral fusion, S...	OMIM:139210
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Ear-Patella-Short Stature Syndrome	Severe short stature, Camptodactyly of finger, Craniosynostosis, Microcephaly, Micrognathia, High...	ORPHA:2554
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Short stature, Osteoporosis, Increased susceptibility to fractures, Mic...	ORPHA:2788
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Solitary Median Maxillary Central Incisor	Anophthalmia, Short stature, Cleft upper lip, Microcephaly, Prominent median palatal raphe, Torus...	OMIM:147250
Fryns Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Median cleft lip, Micr...	ORPHA:2059
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia	OMIM:601809
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Kyphoscoliosis	ORPHA:466722
1Q21.1 Microdeletion Syndrome	Short stature, Microcephaly, Joint hyperflexibility, Agenesis of corpus callosum, High palate, Sc...	ORPHA:250989
Shprintzen-Goldberg Syndrome	Osteopenia, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Microcephaly, High, narro...	ORPHA:2462
Greenberg Dysplasia	Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variation in bone mi...	OMIM:215140
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Short neck, Fused ...	OMIM:609053
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef...	OMIM:109400
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Absent septum pellucidum, Hypoplasia of the max...	ORPHA:87
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Fraser Syndrome	Anal stenosis, Anophthalmia, Dental crowding, Microcephaly, Cleft upper lip, Dental malocclusion,...	ORPHA:2052
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Malabsorption, Hiatus hernia...	ORPHA:50
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Cerebellar hypoplasia, Type II lissencephaly	OMIM:614830
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Small for gestational age, Short stature, Microcephaly, Malabsorption, Fl...	OMIM:601675
Aicardi Syndrome	Prominence of the premaxilla, Cerebellar vermis hypoplasia, Block vertebrae, Butterfly vertebrae,...	OMIM:304050
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Nager Syndrome	Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Non-midline cleft lip, Cleft palate, Wi...	ORPHA:245
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the vertebral bodies, R...	ORPHA:828
Fraser Syndrome 1	Abnormal small intestine morphology, Anophthalmia, Dental crowding, Abnormal cortical gyration, M...	OMIM:219000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Microcephaly, Anteriorly placed anus, Microphthalmia, Anal atresia, Intrauterine gr...	ORPHA:1352
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly,...	OMIM:158350
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, S...	ORPHA:534
Pfeiffer Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Humeroradial synostosis, High ...	OMIM:101600
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Short stature, Craniosynostosis, Hyperlordosis, Hypoplasia of th...	ORPHA:794
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Micrognathia, Orofacial cleft, Narrow mouth...	ORPHA:3301
Kapur-Toriello Syndrome	Failure to thrive, Intestinal malrotation, Short neck, Pachygyria, Dysplastic corpus callosum, Or...	ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Leukoencephalopathy, Hypoplasia of the brainstem,...	OMIM:615181
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Postnatal growth retardation, Macrocephaly, Wide mouth, Hypoplasia of ...	ORPHA:251061
Osteoglophonic Dysplasia	Osteopenia, Delayed eruption of teeth, Mandibular prognathia, Severe short stature, Rhizomelia, C...	OMIM:166250
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microcephaly, High palate, Microphthalmia, Inferior cerebellar vermis hypoplasia, A...	ORPHA:139471
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Atelis Syndrome 2	Sacral dimple, Micrognathia, Diastema, Microcephaly, Kyphosis, Thick lower lip vermilion, Downtur...	OMIM:620185
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Microcephaly, Thick lower lip vermilion, Wide mouth, Long philtrum, Mic...	ORPHA:1942
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, Microcephaly, Micrognathia, Cleft upper lip, ...	ORPHA:3103
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffness, Hypoplasia of ...	OMIM:608328
Trisomy 18	Microretrognathia, Short stature, Camptodactyly of finger, Cachexia, Microcephaly, Esophageal atr...	ORPHA:3380
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Joubert Syndrome 22	Agenesis of cerebellar vermis, Temporal cortical atrophy, Hypoplasia of the corpus callosum, Micr...	OMIM:615665
Congenital Rubella Syndrome	Short stature, Microcephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth ...	ORPHA:290
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, M...	OMIM:236670
Carpenter Syndrome 2	Craniosynostosis, Short neck, Carious teeth, High, narrow palate, Dental malocclusion, Obesity, N...	OMIM:614976
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Persistence of primary teeth, Carious teeth, Basal ganglia calcification, Postnata...	ORPHA:93325
Teebi-Shaltout Syndrome	Short stature, Microcephaly, High, narrow palate, Narrow mouth, Cleft palate, Wide mouth, Oligodo...	OMIM:272950
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxil...	OMIM:608156
Meier-Gorlin Syndrome 1	Joint laxity, Failure to thrive, Absent sternal ossification, Small for gestational age, Microcep...	OMIM:224690
Oculo-Palato-Cerebral Syndrome	Short stature, Joint hypermobility, Microcephaly, High, narrow palate, Cleft palate, Aplasia/Hypo...	ORPHA:2714
Gracile Bone Dysplasia	Short stature, Decreased skull ossification, Aniridia, Microphthalmia, Failure to thrive, Ankylog...	OMIM:602361
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Severe short stature, Joint stiffness, Hypoplas...	ORPHA:2588
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia	OMIM:610706
Holoprosencephaly	Anophthalmia, Short neck, Deep philtrum, Abnormal form of the vertebral bodies, Aplasia/Hypoplasi...	ORPHA:2162
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum	OMIM:619142
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Microphthalmia	OMIM:167730
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly...	OMIM:617914
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Lip pit, Microcephaly, Hypodontia, Scoliosis, Mic...	ORPHA:1236
Frontofacionasal Dysplasia	Short stature, Non-midline cleft lip, Cleft palate, Hypoplasia of olfactory tract, Hypoplasia of ...	ORPHA:1791
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Thin upper lip vermilion, Sacral dimple, Small for gestational age, Craniosynostosis,...	ORPHA:363611
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Short stature, Lumbar hyperlordosis, Microcephaly, Hypoplasia of th...	OMIM:616975
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Microphthalmia, Secondary microcephaly, Smooth philtrum	OMIM:618652
Dyskeratosis Congenita	Esophageal stenosis, Cerebral calcification, Recurrent fractures, Short stature, Malabsorption, H...	ORPHA:1775
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Submucous cleft hard palate, Cleft palate, Hypoplasia of the olfactory bulb, Microp...	ORPHA:2250
Frontonasal Dysplasia 2	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Craniosynostosis, Microcephaly, Coni...	OMIM:613451
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology	ORPHA:1540
Hartsfield Syndrome	Median cleft lip, Craniosynostosis, Microcephaly, Cleft upper lip, Cleft palate, Growth delay, Ag...	OMIM:615465
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Meckel Syndrome, Type 2	Intestinal malrotation, Anencephaly, Cleft palate, Microphthalmia, Dandy-Walker malformation, Int...	OMIM:603194
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Monosomy 9P	Microcephaly, Micrognathia, Narrow mouth, Abnormality of the dentition, Limitation of joint mobil...	ORPHA:261112
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the corpus callosum, R...	OMIM:614643
Incontinentia Pigmenti	Delayed eruption of teeth, Hypoplasia of the fovea, Short stature, Kyphoscoliosis, Conical tooth,...	OMIM:308300
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Biparietal narrowing, Long ...	ORPHA:228396
Cog1-Cdg	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Rhizomelia, ...	ORPHA:263508
Monosomy 22Q13.3	Sacral dimple, Dental crowding, Dental malocclusion, Obesity, Macrocephaly, Malar flattening, Age...	ORPHA:48652
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Large for gestational age, Micrognathia, Hypop...	ORPHA:96334
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft pal...	OMIM:607597
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate...	OMIM:106260
Doors Syndrome	Short lingual frenulum, Hemivertebrae, Downturned corners of mouth, High palate, Widely spaced te...	ORPHA:79500
Williams-Beuren Syndrome	Osteopenia, Rectal prolapse, Flexion contracture, Microdontia, Joint laxity, Short stature, Osteo...	OMIM:194050
Trichothiodystrophy 2, Photosensitive	Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormal dental e...	ORPHA:464
Jacobsen Syndrome	Microcephaly, Micrognathia, Pyloric stenosis, Short neck, Flexion contracture, Macular hypoplasia...	OMIM:147791
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Micrognathia, Esophageal atresia, Hemivertebrae, Tracheoesop...	ORPHA:3412
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Phthisis ...	OMIM:259770
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Short philtrum, Everted lower li...	OMIM:601499
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Loeys-Dietz Syndrome 3	Joint laxity, Eosinophilic infiltration of the esophagus, Craniosynostosis, Osteoarthritis, Knee ...	OMIM:613795
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Thoracic scoliosis, Short sta...	ORPHA:508498
Microphthalmia-Brain Atrophy Syndrome	Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly	ORPHA:77299
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
W Syndrome	Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U...	ORPHA:2804
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Short stature, Microcephaly, Microg...	OMIM:309500
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Microc...	ORPHA:33364
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Micr...	OMIM:610828
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Short stature, Micrognathia, Microcephaly, Hypopl...	OMIM:613803
Oculopalatocerebral Syndrome	Microphthalmia, Short stature, Cleft palate, Microcephaly	OMIM:257910
Warburg Micro Syndrome 2	Microcephaly, Postnatal growth retardation, Flexion contracture, Secondary microcephaly, Hypoplas...	OMIM:614225
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, High, na...	ORPHA:1101
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Microphthalmia, Syndromic 5	Joint laxity, Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft palate, Microphthalmia	OMIM:610125
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Exaggerated median tongue furrow, Cerebellar vermis hypoplasia, Intestinal...	OMIM:312870
Fryns Syndrome	Tented upper lip vermilion, Large for gestational age, Short neck, Agenesis of corpus callosum, D...	OMIM:229850
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Long philtrum, Retr...	OMIM:608149
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Short stature, Microcephaly, Micrognathia, Osteolysis, Cleft palate, Aplasi...	ORPHA:1052
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Microcephaly, Micrognathia, Abnormally large globe, Postnatal growth ...	ORPHA:435628
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Esophageal atresia, Hemivertebrae, Tracheoesophageal fistula, Growth delay, Microph...	ORPHA:77298
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Hypoplasia of the premaxilla, Microcephaly, Micrognathia, Cleft palate, A...	ORPHA:2166
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Short stature, Micrognathia, Carious teeth, Microcephaly, Short neck, C...	OMIM:616734
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Microcephaly, Hypoplasia of the maxilla, Short neck, Hypoplasia of the bra...	OMIM:609460
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Micro...	OMIM:206900
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Unilateral microphthalmos, Osteopetrosis, Macrocephaly	OMIM:615085
Cerebrocostomandibular Syndrome	Anal stenosis, Calcaneal epiphyseal stippling, Cleft soft palate, Microcephaly, Micrognathia, Car...	OMIM:117650
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short stature, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Mic...	OMIM:201180
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Failure to thrive in infancy, Cerebellar hypoplasia	OMIM:618805
Isolated Cleft Lip	Small for gestational age, Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Micrognathia, Short neck, Esophageal atresia, Tracheoesophageal fistula, Clef...	OMIM:614083
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X...	ORPHA:238468
Yunis-Varon Syndrome	Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Short philtrum, ...	ORPHA:3472
Pallister-Hall Syndrome	Natal tooth, Short stature, Cleft upper lip, Hemivertebrae, Cleft palate, Anteriorly placed anus,...	OMIM:146510
Meckel Syndrome, Type 5	Microphthalmia, Anencephaly, Cleft palate, Cleft upper lip	OMIM:611561
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Focal Dermal Hypoplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Camptodactyly of finger, Abnormali...	ORPHA:2092
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Intestinal malrotation, Crani...	OMIM:616268
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Short stature, Microcephaly, Abnormal soft palate morpho...	ORPHA:138
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retarda...	OMIM:309000
Gorlin-Chaudhry-Moss Syndrome	Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Coronal cran...	ORPHA:2095
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Abnormal facial skeleton morph...	ORPHA:563612
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Failure to thrive, Agenesis of corpus callosum, Delayed eruption of primary teeth	OMIM:300952
Van Den Ende-Gupta Syndrome	Sacral dimple, Dental crowding, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, ...	OMIM:600920
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Failure to thrive, Cerebellar vermis hypoplasia, Polymicrogyria	OMIM:612379
Rodrigues Blindness	Microphthalmia, Tooth malposition, Short stature	OMIM:268320
Pseudotrisomy 13 Syndrome	Microcephaly, Cleft upper lip, Hemivertebrae, Cerebellar hypoplasia, Microphthalmia, Polymicrogyr...	OMIM:264480
Cat Eye Syndrome	Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Micrognathia, Rectal atresi...	OMIM:115470
Meckel Syndrome, Type 1	Smooth philtrum, Natal tooth, Thin upper lip vermilion, Intestinal malrotation, Camptodactyly of ...	OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Agyria, Hypoplasia of the pyramidal tract, Spinal rigidity, Flexion contracture, Hypoplasia of th...	OMIM:253800
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Short philtrum, Short stature, Abnormal dental enamel morphology, Obesi...	ORPHA:567
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Short neck, High palate, Widely spaced teeth, Microdontia, B...	OMIM:612474
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Unicoronal synosto...	OMIM:601707
Neu-Laxova Syndrome 1	Micrognathia, Swollen lip, Cleft upper lip, Short neck, Thick lower lip vermilion, Cleft palate, ...	OMIM:256520
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Downturned corners of mouth, ...	ORPHA:500150
Fanconi Anemia	Aganglionic megacolon, Short stature, Microcephaly, Aplasia/Hypoplasia of the uvula, Micrognathia...	ORPHA:84
Joubert Syndrome 2	Agenesis of cerebellar vermis, Hypoplasia of the brainstem, High palate, Macrocephaly, Microphtha...	OMIM:608091
Meckel Syndrome 14	Microretrognathia, Micrognathia, Short neck, Decreased calvarial ossification, Microphthalmia, Re...	OMIM:619879
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Mandibular prognathia, Dental crowding, Short stature, Kyphoscoliosis, Hypoplasia o...	OMIM:617402
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Short stature, Microphthalmia, Spina bifida occulta	OMIM:169550
Mycophenolate Mofetil Embryopathy	Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic vertebrae, Tracheomalaci...	ORPHA:268249
Cockayne Syndrome Type 3	Cerebral white matter atrophy, Mild postnatal growth retardation, Carious teeth, Basal ganglia ca...	ORPHA:90324
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate	OMIM:619053
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Anophthalmia, Severe short stature, Absent septum pellucidum, Abnormal dental enam...	ORPHA:2556
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Kyphosis, Cleft palate, Microphthalmia	OMIM:153400
Fanconi Anemia, Complementation Group F	Sacral dimple, Short stature, Microcephaly, Microphthalmia, Intrauterine growth retardation, Fail...	OMIM:603467
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Craniosynostosis, Micrognathia, Microcephaly, Severe postnatal growth retardation, Thick vermilio...	OMIM:620005
Branchiooculofacial Syndrome	Anophthalmia, Micrognathia, Short neck, Agenesis of cerebellar vermis, Cleft upper lip, Malrotati...	OMIM:113620
Holoprosencephaly 2	Aplasia of the premaxilla, Microcephaly, Microphthalmia, Submucous cleft hard palate, Bilateral c...	OMIM:157170
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Thin upper lip vermilion, Thoracic scoliosis, Short stature, Microgn...	OMIM:620186
Curry-Jones Syndrome	Microphthalmia, Agenesis of corpus callosum, Intestinal malrotation, Craniosynostosis	ORPHA:1553
Microphthalmia, Syndromic 6	Anophthalmia, Microcephaly, Micrognathia, Retrognathia, Cleft palate, Aplasia/Hypoplasia of the c...	OMIM:607932
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Absent septum pellucidum, Micrognathia, Deep philtrum, Growth delay, Hi...	OMIM:613884
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Smooth philtrum, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Thin...	OMIM:619841
Witteveen-Kolk Syndrome	High, narrow palate, Cortical dysplasia, High palate, Short philtrum, Hyperplasia of the maxilla,...	OMIM:613406
Bartsocas-Papas Syndrome 1	Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Short neck, Flexion cont...	OMIM:263650
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Sacral dimple, Short stature, M...	OMIM:619539
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Monosomy 13Q14	Short stature, Micrognathia, Microcephaly, Short neck, Hypoplasia of the corpus callosum, Microph...	ORPHA:1587
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Short stature, Micrognathia, Agenesis of mandibular central incisor, 4-5 metac...	OMIM:268305
Bloom Syndrome	Small for gestational age, Microcephaly, Postnatal growth retardation, Agenesis of maxillary late...	OMIM:210900
Congenital Fibrinogen Deficiency	Microphthalmia, Volvulus, Gingival bleeding	ORPHA:335
Meckel Syndrome	Anophthalmia, Aplasia/Hypoplasia of the tongue, Microcephaly, Micrognathia, Anencephaly, Cleft pa...	ORPHA:564
Familial Exudative Vitreoretinopathy	Microphthalmia, Microcephaly, Reduced bone mineral density	ORPHA:891
Degcags Syndrome	Osteopenia, Micrognathia, High palate, Agenesis of corpus callosum, Hiatus hernia, Thick vermilio...	OMIM:619488
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus...	ORPHA:141099
Fanconi Anemia, Complementation Group C	Small for gestational age, Short stature, Microcephaly, Flexion contracture, Anterior wedging of ...	OMIM:227645
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Obesity	ORPHA:363741
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature, Abnormality of the dentition	ORPHA:1806
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Growth del...	ORPHA:2612
Matthew-Wood Syndrome	Anophthalmia, Duodenal stenosis, Microphthalmia, Failure to thrive, Intrauterine growth retardation	ORPHA:2470
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Obesity	OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Buphthalmos, Hypoplasia of the corpus callo...	OMIM:616538
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:3044
Primrose Syndrome	Cerebral calcification, Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture,...	OMIM:259050
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Severe short stature, Small for gestational age, Short stature, B...	OMIM:127000
Microphthalmia, Syndromic 1	Anophthalmia, Aganglionic megacolon, Dental crowding, Lumbar hyperlordosis, Microcephaly, Cleft u...	OMIM:309800
Adams-Oliver Syndrome	Porencephalic cyst, Esophageal varix, Microphthalmia, Failure to thrive, Periventricular leukomal...	ORPHA:974
Distal Deletion 19P	Hypoplasia of the maxilla, Joint hyperflexibility, Short philtrum, Cleft palate	ORPHA:96129
Singleton-Merten Syndrome 1	Osteopenia, Thin upper lip vermilion, Short stature, Hypoplasia of the maxilla, Carious teeth, Sh...	OMIM:182250
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Absent septum pellucidum, Microcephaly, Cleft palate, Anteriorly placed anus, Colo...	OMIM:309801
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Anophthalmia, Intestinal malrotation, Absent septum pellucidum, Hiatus hernia,...	ORPHA:2538
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Craniosynostosis, Micrognathia, Microcephaly, Short neck, Knee flexion contracture, Thin vermilio...	OMIM:609945
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ...	ORPHA:261537
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Microphthalmia, Syndromic 9	Anophthalmia, Short stature, Severe short stature, Micrognathia, Bilateral microphthalmos, Neonat...	OMIM:601186
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Hydrolethalus Syndrome 1	Median cleft lip, Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Anencephaly...	OMIM:236680
Steinfeld Syndrome	Abnormality of the vertebral column, Microphthalmia, Abnormal vertebral morphology, Bifid uvula, ...	OMIM:184705
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Short stature, Microcephaly, Aplasia/Hypoplasia...	OMIM:235730
Saethre-Chotzen Syndrome	Short stature, Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Buphthalmos...	OMIM:101400
Duane-Radial Ray Syndrome	Anal stenosis, Optic disc hypoplasia, Aganglionic megacolon, Fused cervical vertebrae, Scoliosis,...	OMIM:607323
8Q24.3 Microdeletion Syndrome	Branchial cyst, Joint laxity, Microretrognathia, Smooth philtrum, Small for gestational age, Opti...	ORPHA:508488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Hypoplasia of...	OMIM:253280
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Hypoplasia of the iris, Cerebellar hypoplasia, Hypoplasia...	OMIM:613001
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Craniosynostosis, Microcephaly, Micrognathia, Cleft upper lip, Postnat...	OMIM:268300
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ...	ORPHA:2152
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Microcephaly, Hypoplasia of the maxilla, Cario...	OMIM:129900
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Hypoplasia of...	OMIM:180500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ...	ORPHA:261552
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Severe short stature, Rhizomelia, Ovoid vertebral bodies, Platyspondyly, Scoliosis, Microphthalmia	ORPHA:85167
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Hypoplastic sacrum, Absence of Stensen duct, Selective tooth agenesis, Cleft upper...	OMIM:604292
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
Fanconi Anemia, Complementation Group E	Microphthalmia, Small for gestational age, Short stature, Microcephaly	OMIM:600901
Floating-Harbor Syndrome	Small for gestational age, Short stature, Kyphoscoliosis, Persistence of primary teeth, Celiac di...	ORPHA:2044
Fanconi Anemia, Complementation Group D2	Small for gestational age, Short stature, Microcephaly, Esophageal atresia, Tracheoesophageal fis...	OMIM:227646
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Macrocephaly, Long philtrum, Microphthalmia	OMIM:615877
Papillorenal Syndrome	Joint laxity, Microphthalmia, Short stature, Scoliosis	OMIM:120330
Pallister-Hall Syndrome	Abnormal basal ganglia MRI signal intensity, Natal tooth, Microretrognathia, Short stature, Acces...	ORPHA:672
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Basal ganglia calcification, Short stature, Microcephaly	OMIM:610651
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Fanconi Anemia, Complementation Group A	Microphthalmia, Small for gestational age, Short stature, Microcephaly	OMIM:227650
Acro-Renal-Ocular Syndrome	Vertebral fusion, Optic disc hypoplasia, Aganglionic megacolon, Postnatal growth retardation, Rad...	ORPHA:959
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif...	OMIM:612109
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Histiocytoid Cardiomyopathy	Cleft palate, Microphthalmia, Failure to thrive, Agenesis of corpus callosum, Congenital aphakia	ORPHA:137675
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Craniofacial Microsomia 1	Anophthalmia, Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Micropht...	OMIM:164210
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly ossified vertebrae, Scle...	ORPHA:3003
Charge Syndrome	Anal stenosis, Anophthalmia, Microcephaly, Micrognathia, Esophageal atresia, Cleft upper lip, Pos...	OMIM:214800
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal par...	OMIM:154500
Norrie Disease	Aplasia/Hypoplasia of the lens, Cachexia, Microcephaly, Hypoplasia of the iris, Thin vermilion bo...	ORPHA:649
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening	OMIM:122880
Refsum Disease	Microphthalmia	ORPHA:773
Adams-Oliver Syndrome 1	Microcephaly, Cleft upper lip, Cortical dysplasia, Cleft palate, Hypoplasia of the corpus callosu...	OMIM:100300
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Growth delay, Thin vermilion bord...	ORPHA:920
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Conical in...	OMIM:149730
Fraser Syndrome 2	Intestinal malrotation, Short neck, Rectal atresia, Narrow mouth, Microphthalmia, Anal atresia	OMIM:617666
Tetraamelia Syndrome 1	Cleft upper lip, Micrognathia, Cleft palate, Microphthalmia, Anal atresia	OMIM:273395
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Severe short stature, Microcephaly, Thick vermilion border, Long philtrum, Micropht...	ORPHA:2526
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft lip, Microcephaly, Orofacial cleft, Vertebral segmentation defect, Microphthalmia	ORPHA:3186
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process...	OMIM:300106
Isolated Arrhinia	Microphthalmia, Hypoplasia of the nasal bone	ORPHA:1134
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Microcephaly	OMIM:278730
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Growth delay	OMIM:120200
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Holoprosencephaly 1	Short stature, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, ...	OMIM:236100
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Hypoplasia of the iris, Macular hyp...	OMIM:609049
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Phace Association	Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation	OMIM:606519
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene...	ORPHA:42775
Townes-Brocks Syndrome	Rectoperineal fistula, Short stature, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, D...	ORPHA:857
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Cortical dysplasia, Porencephalic cyst, Leukoencephalopathy, Hypoplasia of the ir...	OMIM:175780

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 Foxn3

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 Foxn3.

No publications found that use IMPC mice or data for Foxn3.

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MGI Allele	Allele Type	Produced
Foxn3^em1(IMPC)Bay	Exon Deletion	Mice

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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Gene: Foxn3 MGI:1918625

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E18.5

Eye Morphology

X-ray

X-ray

Eye Morphology

Eye Morphology

X-ray

Eye Morphology

X-ray

X-ray

Electrocardiogram (ECG)

Human diseases caused by Foxn3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data