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Gene: Efnb1 MGI:102708

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ephrin B1

Synonyms:

Epl2, Stra1, Elk-L, Eplg2, LERK-2, Cek5 ligand, Lerk2, EFL-3, Cek5-L

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Efnb1 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 Efnb1 (2 diseases)
Human diseases predicted to be associated with Efnb1 (1133 diseases)

The table below shows human diseases associated to Efnb1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Craniofrontonasal Syndrome		Down-sloping shoulders, Cleft upper lip, Pectus excavatum, Abnormality of the dentition, Cleft pa...	OMIM:304110
Craniofrontonasal Dysplasia		Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520

The table below shows human diseases predicted to be associated to Efnb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Teratocarcinoma-Derived growth factor 1	Absent septum pellucidum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:187395
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Syngnathia	Cleft palate	OMIM:119550
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Death in infancy, Bifid uvula, Cleft palate	OMIM:258320
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly	ORPHA:171703
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum	OMIM:166990
Lipedema	Lipedema, Edema	OMIM:614103
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen...	OMIM:615771
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Lissencephaly 3	Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Microcephaly, Pachygyria, Gray...	OMIM:611603
Usmani-Riazuddin Syndrome, Autosomal Recessive	Posteriorly rotated ears, Pectus excavatum, High palate, Low-set ears, Agenesis of corpus callosum	OMIM:619548
Omphalocele	Omphalocele	ORPHA:660
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Fetal Valproate Spectrum Disorder	Omphalocele, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum	ORPHA:1906
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Adenomatous colonic polyposis, Colon cancer, Agenesis of corpus callosum	OMIM:619101
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands, Swollen lip	OMIM:619363
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Cleft palate, Cerebellar hypoplasia, Low-set ears, Agenesis of corpus callosum	OMIM:616570
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Abnormality of the dentition, Mild malformation of cortical development, Dysplastic corpus callos...	ORPHA:500166
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Thick vermilion border...	OMIM:617090
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
2q33.1 deletion syndrome	Inguinal hernia, High palate, Cleft palate	DECIPHER:51
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Abnormal ear morphology, High palate, Primary microcephaly	OMIM:618010
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Masa Syndrome	Agenesis of corpus callosum	ORPHA:2466
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Partial agenesis of the corpus callosum, Agenesis of corpus callos...	ORPHA:85179
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Microcephaly, Frontal encephalocele, Op...	ORPHA:1528
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the philtrum, Microcephaly, Abnormality of the dentition, Abnormal rib morphology,...	ORPHA:3268
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Thoracic scoliosis, Periventricular heterotopia, Microcephaly, Hypoplasia of t...	OMIM:616171
Lissencephaly Due To Tuba1A Mutation	Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Cerebellar vermis hypoplasia, Microcephaly...	ORPHA:171680
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Pectus excavatum, Cerebral atrophy, Hypoplasia of the corpus callosum, Triangular mouth, Agenesis...	ORPHA:166024
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum, Narrow chest, Long philtrum	ORPHA:1621
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Microcephaly, Optic atrophy, Thin vermilion border, Low-set ears, Narrow mouth, Parietal cortical...	OMIM:618766
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ...	OMIM:128980
Epilepsy, Progressive Myoclonic, 9	Microglossia, Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum	OMIM:619466
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Long philtrum	OMIM:618286
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ...	OMIM:218670
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Schisis Association	Omphalocele, Congenital diaphragmatic hernia, Microcephaly, Tracheoesophageal fistula, Cleft pala...	ORPHA:63862
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Congenital Disorder Of Glycosylation, Type Iiy	Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:620200
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Microcephaly	ORPHA:2435
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip	OMIM:614402
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Thin ribs, Lissencephaly, Narro...	OMIM:614833
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux	OMIM:235750
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death, Inguinal hernia, Polyhydramnios, Microcephaly	OMIM:619602
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Miller-Dieker Syndrome	Omphalocele, Abnormal upper lip morphology, Polyhydramnios	ORPHA:531
Microcephaly 3, Primary, Autosomal Recessive	Mixed hearing impairment, Microcephaly, Sensorineural hearing impairment, Partial agenesis of the...	OMIM:604804
Oculocerebrocutaneous Syndrome	Abnormal thorax morphology, Orbital encephalocele, Cleft palate, Gray matter heterotopia, Hypopla...	OMIM:164180
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho...	OMIM:617405
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C...	OMIM:619302
Microcephaly 16, Primary, Autosomal Recessive	Open mouth, Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact...	ORPHA:380
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia	ORPHA:294975
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callosum, High palate, Cerebe...	OMIM:304100
Trigonocephaly 1	Omphalocele, Microcephaly, High, narrow palate, Long philtrum, Meckel diverticulum	OMIM:190440
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Optic atrophy, Cerebral a...	OMIM:600118
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Accessory oral frenulum, Overfolded helix, Cleft palate, Abnormal antihelix morpho...	ORPHA:79113
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Spastic Paraplegia 81, Autosomal Recessive	Microcephaly, Sensorineural hearing impairment, Optic atrophy, Cleft palate, Periventricular whit...	OMIM:618768
Branchiootic Syndrome	Branchial fistula, Facial palsy, Lip pit, Sensorineural hearing impairment, Abnormality of the in...	ORPHA:52429
Lissencephaly 6 With Microcephaly	Thin upper lip vermilion, Periventricular heterotopia, Pachygyria, Microcephaly, Macrotia, Partia...	OMIM:616212
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Pectus excavatum, Abnormal globus pallidus morphology, Cleft palate, High palate, H...	OMIM:618603
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Coffin-Siris Syndrome 11	Cleft soft palate, Uplifted earlobe, Esophageal atresia, Downturned corners of mouth, Wide mouth,...	OMIM:618779
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes,...	ORPHA:2512
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Distal Duplication 15Q	Omphalocele, Camptodactyly of finger, Microcephaly, Downturned corners of mouth, High palate, Lon...	ORPHA:1707
Acalvaria	Omphalocele, Cleft palate	ORPHA:945
Band Heterotopia	Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr...	OMIM:600348
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Thoracic scoliosis, Bilateral cleft lip, Pectus excavatum, Shield chest, Low-set ears, Cavum sept...	OMIM:616994
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Omphalocele, Relative macrocephaly	OMIM:614450
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the dentition, Microcep...	ORPHA:276422
Holoprosencephaly 11	Cleft lip, Agenesis of corpus callosum, Cleft palate, Microcephaly	OMIM:614226
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Tongue fasciculations, Global b...	OMIM:618276
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Midline notch of upper alveolar ridge, Lobulated tongue, Low-set ea...	OMIM:617127
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Abnormal pinna morphology, Orofacial cleft, Wide mouth, Lissencephaly, ...	OMIM:614583
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Postaxial polydactyly, Missing ribs, Micromelia, ...	OMIM:617866
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Polyhydramnios, Flexion contracture, Congenital pyloric atresia, Macrocephaly, Neonatal death	OMIM:612138
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology, Hearing impairment	ORPHA:2291
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Agenesis of corpus callosum, Periventricular leukomalacia, Optic atrophy	OMIM:618324
Isolated Childhood Apraxia Of Speech	Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Abnormal caudate nucleus morph...	ORPHA:209908
X-Linked Intellectual Disability, Abidi Type	Microcephaly, Pectus excavatum, Non-midline cleft lip, Cleft palate, Protruding ear, Hearing impa...	ORPHA:85273
Weaver-Williams Syndrome	Narrow mouth, Microcephaly, Cleft palate, Protruding ear	ORPHA:3448
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Tented upper lip vermilion, Posteriorly rotated ears, Cerebellar vermis hypoplasia, Microcephaly,...	OMIM:620001
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Optic atrophy, Cerebral atrophy, Microcephaly	OMIM:274270
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Preaxial hand polydactyly, Interphalangeal joint contracture of finger, Knee flexion contracture	OMIM:606242
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Downturned corners of mouth, Short philtru...	ORPHA:93267
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Isolated Anencephaly	Omphalocele, Cleft lip, Congenital diaphragmatic hernia	ORPHA:563609
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, High, narrow palate, Ileus, Cerebral atroph...	OMIM:620156
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Macroglossia, Umbilical hernia	OMIM:275100
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, Pectus excavatum, Microcephaly, Cupped ear, Cleft palate, Pectus carinatum, Micr...	OMIM:609654
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Pectus excavatum, Partial agenesis of the corpus callosum, Optic atrophy, High palate	OMIM:245349
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Short r...	OMIM:615503
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Biemond Syndrome Ii	Preaxial hand polydactyly	OMIM:210350
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Craniodiaphyseal Dysplasia	Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy, Abnormal r...	ORPHA:1513
Lissencephaly, X-Linked, 2	Thin upper lip vermilion, High palate, Lissencephaly, Low-set ears, Long philtrum, Long upper lip...	OMIM:300215
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Thin upper lip vermilion, Microcephaly, Wide mouth, Low-set ears, Agenesis of corpus callosum, Sm...	OMIM:619989
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp...	ORPHA:255138
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Microcephaly, Sensorineural hearing...	ORPHA:251056
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra...	ORPHA:1278
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Pectus excavatum, Sensorineural hearing impairment, Cupped ear, Optic ...	ORPHA:52055
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip	OMIM:601357
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Mild microcephaly, Increased...	OMIM:618761
Boomerang Dysplasia	Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios	ORPHA:1263
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi...	OMIM:615095
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Posteriorly rotated ears, Partial agenesis of the corpus callosum, ...	OMIM:616819
Masa Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:303350
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu...	ORPHA:65759
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Exaggerated cupid's bow, Dysgenesis of the basal ganglia, High palate, Lissencephaly, Cerebellar ...	OMIM:620316
Triploidy	Omphalocele, Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Cleft palate, Macroce...	ORPHA:3376
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Delpire-Mcneill Syndrome	Agenesis of corpus callosum, Cortical dysplasia, Tracheoesophageal fistula, Bilateral sensorineur...	OMIM:619083
Isolated Klippel-Feil Syndrome	Spina bifida, Abnormal rib morphology, Cleft palate, Abnormal cranial nerve morphology, Abnormal ...	ORPHA:2345
Rhiny	Inguinal hernia, Thin vermilion border	OMIM:180360
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty...	OMIM:175700
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy,...	OMIM:618346
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Simp...	OMIM:619244
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, Microcephaly, Velopharyngeal insufficiency, High palate, Low-set ears	OMIM:608363
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth	OMIM:183300
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Endosteal Hyperostosis, Worth Type	Facial palsy, Sensorineural hearing impairment, Abnormal rib morphology, Torus palatinus, Clavicu...	ORPHA:2790
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Microcephaly, Agenesis of corpus callosum, Cerebral cortical atrophy, Protruding ear	ORPHA:2508
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Walker-Warburg Syndrome	Posteriorly rotated ears, Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Pac...	ORPHA:899
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:307000
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Thin upper lip vermilion, Lymphedema, Hydrops fetalis, Oligohydramnios	OMIM:601927
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Simplified gyra...	OMIM:613153
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Large hands	ORPHA:85287
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Microcephaly, Optic atrophy, Lisse...	ORPHA:99742
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl...	OMIM:216300
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Polyhydramnios, Microcephaly, Flexion contracture, ...	OMIM:263210
Donnai-Barrow Syndrome	Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Macrocephaly, Umbilical hernia	ORPHA:2143
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus callosum, Cupped ear, Large earlobe...	OMIM:619955
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia	OMIM:613630
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo...	OMIM:602196
Septopreoptic Holoprosencephaly	Megalencephaly, Microcephaly, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal rib mo...	ORPHA:280195
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul...	OMIM:218000
Adducted Thumbs Syndrome	Cerebral dysmyelination, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft p...	OMIM:201550
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Relative macrocephaly, Cleft soft palate, Abnormality of the dentiti...	OMIM:618529
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over...	OMIM:618142
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Anencephaly, Cleft palate	OMIM:614120
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Downturned corners of mouth, Lissencephaly, Cerebellar hypoplasia, Agenesis of corp...	OMIM:616342
Glycine Encephalopathy 1	Agenesis of corpus callosum	OMIM:605899
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Narrow mouth, Aplasia/Hypop...	ORPHA:990
Frontonasal Dysplasia 1	Pericallosal lipoma, Median cleft lip, Conductive hearing impairment, Anterior basal encephalocel...	OMIM:136760
Trisomy 1Q	Omphalocele, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hernia, Increased ...	ORPHA:261344
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Posteriorly rotated ears, Microcephaly, Hypoplasia of the corpus callosum, Lon...	OMIM:300887
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Hydrolethalus	Low-set, posteriorly rotated ears, Absent septum pellucidum, Submucous cleft hard palate, Anencep...	ORPHA:2189
Colonic Atresia	Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia	ORPHA:1198
Al-Gazali-Bakalinova Syndrome	Pectus excavatum, Pectus carinatum, Low-set ears, Hypoplasia of the corpus callosum, Triangular m...	OMIM:607131
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Abnormal rib morphology, Cleft palate, Wide mouth, Microtia, H...	ORPHA:1703
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Aplasia/Hypoplasia of the external ear, Cereb...	ORPHA:168486
Septooptic Dysplasia	Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Cleft Velum	Recurrent otitis media, Conductive hearing impairment, Velopharyngeal insufficiency, Cleft soft p...	ORPHA:99772
Bor Syndrome	Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ...	ORPHA:107
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Dysplastic corpus callosum, Sensorineural hearing impairment, Absence of acous...	OMIM:619737
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia	ORPHA:95706
Imagawa-Matsumoto Syndrome	Anteriorly placed anus, Umbilical hernia, Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Braddock-Carey Syndrome 1	Posteriorly rotated ears, Microcephaly, Pierre-Robin sequence, Cleft palate, Anteriorly placed an...	OMIM:619980
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnor...	ORPHA:3098
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissence...	ORPHA:89844
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit...	ORPHA:2378
Agnathia-Otocephaly Complex	Aglossia, Cleft palate, Low-set ears, Narrow mouth, Conductive hearing impairment, Microglossia, ...	OMIM:202650
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Hernia, Double Inguinal	Inguinal hernia	OMIM:142350
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow mouth, Partial agenesis of the corpus callosum, Narrow palate, Hypoplasia of teeth, Wide m...	OMIM:620250
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne...	ORPHA:2549
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Pectus excavatum, Sensorineural hearing impairment, Cupped ear, Optic d...	OMIM:300472
Maternal Uniparental Disomy Of Chromosome X	Shield chest, Thin vermilion border, Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Hyperintensity of cerebral white matter on MRI, Protruding ear, Pectus c...	ORPHA:481152
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Microceph...	OMIM:174300
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cleft palate, Short philtr...	OMIM:619074
Chromosome 3Q13.31 Deletion Syndrome	High palate, Short philtrum, Low-set ears, Macrotia, Agenesis of corpus callosum	OMIM:615433
Cerebrocostomandibular Syndrome	Porencephalic cyst, Anteriorly placed anus, Glossoptosis, High palate, Conductive hearing impairm...	OMIM:117650
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic...	ORPHA:949
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal rib morphology, Abnormal palate morphology	ORPHA:1506
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum, Abnormality of the dentition	ORPHA:2101
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum	OMIM:617542
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Mitochondrial Complex I Deficiency, Nuclear Type 16	Agenesis of corpus callosum, Caudate atrophy, Optic atrophy	OMIM:618238
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Tented upper lip vermilion, Exaggerated cupid's bow, Cerebellar vermis hypoplasia, Dysplastic cor...	OMIM:616900
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern, Cerebellar hypopla...	OMIM:617669
Weiss-Kruszka Syndrome	Exaggerated cupid's bow, Hearing impairment, Cupped ear, Protruding ear, Colpocephaly, Microtia, ...	OMIM:618619
Vici Syndrome	Hypoplasia of the pons, Sensorineural hearing impairment, Optic atrophy, Gray matter heterotopia,...	ORPHA:1493
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivoponto...	ORPHA:370959
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Periventricular heterotopia, High palate, Sho...	OMIM:618929
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Even-Plus Syndrome	Dysplastic corpus callosum, Microtia, High palate, Hypodontia, Agenesis of corpus callosum, Anal ...	OMIM:616854
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia	OMIM:601163
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Abnormal E...	ORPHA:199302
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Umbilical hernia, Diastasis recti, Polyhydramnios	ORPHA:254534
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Microcephaly, Thick lower lip ve...	ORPHA:466688
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Horizontal ribs, Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Cleft palate, Lobulated tongue, Agenesis ...	OMIM:614815
Developmental And Epileptic Encephalopathy 89	Omphalocele, Thin upper lip vermilion, Flexion contracture, Cleft palate, Macrocephaly, Death in ...	OMIM:619124
Lymphatic Malformation 12	Inguinal hernia, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in a...	OMIM:620014
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, M...	OMIM:617695
Subependymal Nodular Heterotopia	Occipital encephalocele, Focal cortical dysplasia, Myelomeningocele, Meningocele, Partial agenesi...	ORPHA:101030
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpu...	OMIM:619517
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Pectus excavatum, Microcephal...	ORPHA:261236
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Macroceph...	OMIM:618316
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, I...	OMIM:243150
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate, Microcephaly	ORPHA:2521
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Microcephaly, Short thorax, Abnormal rib morphology, Cleft palate, Posterior rib fu...	ORPHA:1797
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, ...	OMIM:225790
Microhydranencephaly	Microcephaly, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Ma...	OMIM:605013
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per...	OMIM:604360
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Renpenning Syndrome	Macrodontia, Microcephaly, Pectus excavatum, High, narrow palate, Sensorineural hearing impairmen...	ORPHA:3242
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Thoracic scoliosis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simpli...	ORPHA:300570
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia necrosis, ...	ORPHA:79243
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Hamartoma of tongue, Partial agenesis of the corpus callosum, Gray ...	OMIM:619775
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Recurrent otitis media, Agenesis of corpus callosum, Microcephaly	OMIM:615286
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Microcephaly, Sensorineural hearing impairment, Orofac...	OMIM:243310
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Polyhydramnios, Flexion c...	ORPHA:254528
Foxg1 Syndrome	Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph...	ORPHA:561854
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Tooth agenesis, Agenesis of corp...	OMIM:147950
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Achondrogenesis, Type Ib	Inguinal hernia, Polyhydramnios, Edema, Hydrops fetalis, Stillbirth, Umbilical hernia	OMIM:600972
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Microcephaly, Optic atrophy, Protruding ear, High palate, Broad alveolar ridges, Agenesis of corp...	OMIM:300004
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Missing ribs, Abnormal rib morphology, Optic atrophy, Orofacial cleft, Mic...	ORPHA:3301
Brachycephaly, Trichomegaly, And Developmental Delay	Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin v...	OMIM:617412
Femoral-Facial Syndrome	Thin upper lip vermilion, Rib fusion, Abnormal rib morphology, Orofacial cleft, Cleft palate, Apl...	ORPHA:1988
Bladder Exstrophy	Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm...	ORPHA:93930
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment	OMIM:251800
Desmosterolosis	Low-set, posteriorly rotated ears, Abnormal cortical gyration, Intestinal malrotation, Absent sep...	ORPHA:35107
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca...	OMIM:619103
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Optic atrophy, Cerebellar ...	OMIM:607196
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Fryns Syndrome	Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr...	ORPHA:2059
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Uplifted earlobe, Microcephaly, Cleft palate, Pectus carinatum, Furro...	OMIM:616449
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Abse...	OMIM:607323
Oculoskeletodental Syndrome	Abnormality of the dentition, Dysplastic corpus callosum, Sensorineural hearing impairment, Oligo...	ORPHA:557003
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Death in infancy, Intestinal malrotation, Polyhydramnios, Umbilical hernia, Microcolon	ORPHA:2241
Thomas Syndrome	Oligohydramnios, Cleft palate, Cleft upper lip	ORPHA:3316
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca...	ORPHA:90652
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Prune belly, Anal atresia	OMIM:601389
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Low-set ears, Agenesis of cor...	OMIM:616258
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Lethal Congenital Contracture Syndrome 10	Omphalocele, Hydrops fetalis, Narrow palate, Macroglossia, High palate, Long philtrum, Oligohydra...	OMIM:617022
Toriello-Carey Syndrome	Abnormal pinna morphology, Aganglionic megacolon, Aplasia/Hypoplasia of the cerebellum, Microceph...	ORPHA:3338
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St...	OMIM:612290
4Q21 Microdeletion Syndrome	Abnormality of the dentition, Downturned corners of mouth, Thin vermilion border, Short philtrum,...	ORPHA:238750
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ...	ORPHA:1553
Marden-Walker Syndrome	Microcephaly, High, narrow palate, Pyloric stenosis, Cleft palate, Abnormal sternum morphology, H...	OMIM:248700
Short-Rib Thoracic Dysplasia 12	Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Intestinal malrotation, Hamartoma of...	OMIM:269860
Combined Oxidative Phosphorylation Deficiency 2	Agenesis of corpus callosum, Low-set ears	OMIM:610498
Orofaciodigital Syndrome Vi	11 pairs of ribs, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Hamartoma of tongue, Ac...	OMIM:277170
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Tented upper lip vermilion, Posteriorly rotated ears, Exaggerated cupid's bow, Cerebellar vermis ...	OMIM:619720
Lymphangiectasia, Intestinal	Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia	OMIM:152800
Mucolipidosis Iv	Dysplastic corpus callosum, Optic atrophy, Cerebral dysmyelination, Microcephaly	OMIM:252650
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Broad philtrum, Long philtrum	OMIM:618577
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Mosaic Trisomy 1	Omphalocele, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hernia, Increased ...	ORPHA:1692
Branchiootorenal Syndrome 1	Branchial cyst, High palate, Conductive hearing impairment, Microdontia, Bifid uvula, Branchial f...	OMIM:113650
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Microcephaly, Malabsorption, Pachygyria, Agenesis of corpus callosum	ORPHA:452
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of the...	ORPHA:500144
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Abnormal rib morphology, Bif...	ORPHA:2167
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Protruding tongue, Optic atrophy, Gingival overgrowth, Colp...	OMIM:620352
Intellectual Developmental Disorder, Autosomal Dominant 65	Tented upper lip vermilion, Posteriorly rotated ears, Downturned corners of mouth, Agenesis of co...	OMIM:619320
Facial Clefting, Oblique, 1	Cleft palate, Cleft upper lip	OMIM:600251
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Polyhydramnios...	OMIM:247200
Meckel Syndrome, Type 2	Omphalocele, Intestinal malrotation, Cleft palate	OMIM:603194
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac...	ORPHA:220497
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Aicardi Syndrome	Intestinal polyposis, Missing ribs, Hiatus hernia, Malabsorption, Cleft upper lip, Optic disc col...	ORPHA:50
Orofaciodigital Syndrome Xix	Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Additional crus of ...	OMIM:620107
Emanuel Syndrome	Dental crowding, High palate, Agenesis of corpus callosum, Bifid uvula, Dandy-Walker malformation...	ORPHA:96170
Kapur-Toriello Syndrome	Posteriorly rotated ears, Intestinal malrotation, Dysplastic corpus callosum, Orofacial cleft, At...	ORPHA:2328
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Cleft palate	OMIM:313850
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Cerebral calcification, Periventricular heterotopia, Optic atrophy, P...	OMIM:618476
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polydacty...	OMIM:616300
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Abnormal rib morphology, Cleft palate, Conductive hearing impairment, Sprengel a...	OMIM:601076
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Relative macrocephaly, Long philtrum	OMIM:617895
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Agenesis of corpus callosum, Prominent ...	OMIM:200990
Choanal Atresia And Lymphedema	Pericardial effusion, High palate, Lymphedema	OMIM:613611
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Microcephaly, Pectus excavatum, Hypoplasia of the corpus callosum, Op...	OMIM:616362
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Pectus excavatum, Submucous cleft hard palate, Darwin tubercle of helix, Supern...	OMIM:619122
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Sensorineural hearing impairment, Progressive microcephaly, Hypoplasia of the brain...	OMIM:615249
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Abno...	ORPHA:293725
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Diffuse cerebral atrophy, Microcephaly, Carious teeth, Basal ganglia c...	OMIM:214150
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, Microcephaly, High, narrow palate, Wide mouth, Gray ma...	OMIM:619312
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Chromosome 9P Deletion Syndrome	Omphalocele, Thin upper lip vermilion, Inguinal hernia, High, narrow palate, Deep philtrum, Narro...	OMIM:158170
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Basal ganglia cysts, Long philtrum, Agenesis of corpus callosum	OMIM:312170
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Posteriorly rotated ears, Partial agenesis of the corpus callosum, Colpocephaly, High palate, Thi...	OMIM:620113
Kyphomelic Dysplasia	Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Narrow chest	ORPHA:1801
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Thin upper lip vermilion, Periventricular leukomalacia, Posteriorly ro...	OMIM:617360
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Microcephaly, Protruding ear, Macroglossia, Abnormal antihelix morpho...	ORPHA:261144
Fibrochondrogenesis 1	Omphalocele, Narrow mouth, Hydrops fetalis, Cleft palate, Stillbirth, Long philtrum, Joint contra...	OMIM:228520
Lymphatic Malformation 5	Facial edema, Predominantly lower limb lymphedema, Cleft palate	OMIM:153200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Optic nerve hypoplasia...	OMIM:614643
Nizon-Isidor Syndrome	Thin upper lip vermilion, High, narrow palate, Downturned corners of mouth, Short philtrum, Evert...	OMIM:618872
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Flexion contracture, Long philtrum	OMIM:608149
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atresia of the external ...	ORPHA:3236
Anencephaly 2	Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Opitz Gbbb Syndrome	Smooth philtrum, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Posteriorly rotated ears...	OMIM:300000
Caudal Duplication	Omphalocele, Intestinal duplication	ORPHA:1756
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Probst bundles, High, narrow palate, Cupped ear, Submucous cleft hard p...	OMIM:612863
Temtamy Syndrome	Dental crowding, Thick corpus callosum, Hypoplasia of teeth, Low-set ears, Long philtrum, Agenesi...	OMIM:218340
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Thickened ribs, Optic atrophy, Facial diplegia, Hearing impairment	OMIM:122860
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Fg Syndrome 3	Pyloric stenosis, Sensorineural hearing impairment, Agenesis of corpus callosum	OMIM:300406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Cleft upper l...	OMIM:236670
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Esophageal atresia, Sens...	ORPHA:3157
Constricting Bands, Congenital	Omphalocele, Cleft upper lip, Cleft palate, Gastroschisis, Bladder exstrophy	OMIM:217100
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Cerebral calcification, Posteriorly rotated ears, Facial palsy, High, ...	ORPHA:2780
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Primary mic...	OMIM:620183
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Poster...	OMIM:619148
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Posteriorly rotated ears, Microcephaly, Sensorineural hearing impairment, Optic atrophy, Simplifi...	OMIM:615219
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Gingival overgrowth, Abn...	ORPHA:1834
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Lateral Meningocele Syndrome	Posteriorly rotated ears, Dental crowding, Abnormality of the middle ear ossicles, Pectus excavat...	ORPHA:2789
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Abnormali...	OMIM:616331
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Microcephaly, Abnormal rib morphology, Abnormality of neuronal...	ORPHA:2772
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Natal tooth, Anal stenosis, Dental crowding, Intestinal malrotation, Polyhydramnios,...	OMIM:300373
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion	OMIM:616898
Nephronophthisis 15	Polydactyly	OMIM:614845
Trisomy 4P	Preaxial hand polydactyly, Radial club hand, Camptodactyly of finger	ORPHA:1738
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Dental crowding, Cleft upper lip, Pectus ex...	OMIM:612582
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Bamforth-Lazarus Syndrome	Polyhydramnios, Cleft palate	OMIM:241850
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia, Abnormal rib morphology, Microcephaly	ORPHA:2643
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Protruding tongue, Microcephaly, Neurofibroma, Thick vermilion border, ...	ORPHA:1446
Parietal Foramina 1	Macrocephaly, Cleft palate, Cleft upper lip	OMIM:168500
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Coach Syndrome 2	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac...	ORPHA:220493
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Sensorineural hearing impairment, Abnormal rib morphology, Cleft palate...	OMIM:118100
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Abnormality of the dentition, Microcephaly, Cerebral atrophy, Promi...	OMIM:615802
Bohring-Opitz Syndrome	Bilateral cleft palate, Posteriorly rotated ears, Intestinal malrotation, Delayed peripheral myel...	OMIM:605039
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Intestinal malrotation, Polyhydramnios, Microcephaly, Cleft palate, Orofacial cleft,...	ORPHA:2166
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Microcephaly...	OMIM:301043
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2182
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal rib morphology, Cleft palate, Long thorax, Narrow chest	ORPHA:2635
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perma...	OMIM:616894
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia ...	ORPHA:2524
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Periventricular heterotopia, Decreased nerve conduction velocity, Senso...	OMIM:618733
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Missing ribs, Hiatus hernia, Cleft upper lip, Partial...	OMIM:304050
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Low-set ears, Narrow mouth, Hypoplasia of the corpus callosum, Overfold...	OMIM:613735
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Mosaic Trisomy 8	Abnormal pinna morphology, Abnormal rib morphology, Cleft palate, Protruding ear, Abnormal antihe...	ORPHA:96061
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Posteriorly rotated ears, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Missing ...	ORPHA:2759
Grant Syndrome	Open bite, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of the glenoid fo...	ORPHA:2097
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Frontal encephalocele, Agenesis of corpus ...	ORPHA:521308
Corpus Callosum Agenesis-Neuronopathy Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Craniosynostosis 6	Microcephaly, Sensorineural hearing impairment, Lateral ventricle dilatation, Spina bifida occult...	OMIM:616602
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Microcephaly, Supernumerary tooth, Abnormality of the tongue, ...	ORPHA:314621
Mohr Syndrome	Syndactyly, Wormian bones, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphys...	OMIM:252100
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydactyly, Finger clin...	ORPHA:2754
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Cupped ribs, Degeneration of anterior horn cells, High pa...	ORPHA:1145
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Microcephaly, Pectus excavatum, Abnorma...	ORPHA:2522
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Agenesis of corpus callosum, Abnormal location of ears, Hypoplasia of the corpu...	OMIM:218350
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Abnormality of the dentition, Conical tooth, Low-se...	ORPHA:228390
Vacterl/Vater Association	Omphalocele, Polyhydramnios, Congenital diaphragmatic hernia, Non-midline cleft lip, Tracheoesoph...	ORPHA:887
Donnai-Barrow Syndrome	Posteriorly rotated ears, Intestinal malrotation, Sensorineural hearing impairment, Partial agene...	OMIM:222448
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Dental crowding, Pectus excavatum, Deep philtrum, High palate, Short ph...	OMIM:309520
C Syndrome	Omphalocele, Death in infancy, Accessory oral frenulum, Polyhydramnios, Congenital diaphragmatic ...	ORPHA:1308
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Pectus excavatum, Lo...	OMIM:606851
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Abnormal thumb morpholog...	ORPHA:1120
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Posteriorly rotated ears, Cleft upper lip, Microcephaly, Cerebel...	OMIM:264480
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
White Forelock With Malformations	Low-set, posteriorly rotated ears, Deep philtrum, Abnormal rib morphology, Sprengel anomaly, Abno...	ORPHA:2475
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Everted lower lip vermilion	OMIM:242500
Developmental And Epileptic Encephalopathy 49	Tented upper lip vermilion, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, B...	OMIM:617281
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:612370
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Delayed closure of the anterior fontanelle, Polydactyly, Upper li...	ORPHA:231140
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate	OMIM:217150
C Syndrome	Omphalocele, Accessory oral frenulum, Microcephaly, Wide mouth, High palate, Thick anterior alveo...	OMIM:211750
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus...	ORPHA:314679
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Thin upper lip vermilion, Microcephaly, High palate, Long philtrum, Smooth philtrum	OMIM:609625
Microphthalmia, Syndromic 8	Microcephaly, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central inc...	OMIM:601349
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, S...	OMIM:615948
Trisomy 18	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Microcephaly, Esophageal a...	ORPHA:3380
Apert Syndrome	Delayed eruption of teeth, Absent septum pellucidum, Esophageal atresia, Sensorineural hearing im...	ORPHA:87
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal pinna morphology, Facial palsy, Microcephaly, Abnormal rib morphology, Tracheoesophageal...	ORPHA:3068
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Microcephaly, Partial absence of cerebellar vermis, Cleft palate,...	OMIM:613150
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Sa...	OMIM:201000
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Sensorineural hearing impair...	ORPHA:3378
Intellectual Developmental Disorder, Autosomal Dominant 22	Thin upper lip vermilion, Abnormal pinna morphology, Microcephaly, Short philtrum, Low-set ears, ...	OMIM:612337
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Pentalogy Of Cantrell	Omphalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Cleft palate, Orofacial cleft	ORPHA:1335
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Downturned corners of mouth, High palate, Short philtrum, Low-set ears,...	OMIM:613174
Immunodeficiency 49	Natal tooth, Posteriorly rotated ears, Reduced cerebral white matter volume, Short philtrum, Umbi...	OMIM:617237
Ritscher-Schinzel Syndrome 4	Narrow palate, Wide mouth, Thick vermilion border, High palate, Short philtrum, Cerebellar hypopl...	OMIM:619435
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Cleft upper lip, Rib fusion, Cle...	ORPHA:1394
15Q14 Microdeletion Syndrome	Inguinal hernia, Abnormality of the dentition, Microcephaly, Cleft palate, Short philtrum, Bipari...	ORPHA:261190
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Microcep...	OMIM:618454
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Long philtrum	OMIM:145420
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Inguinal hernia, High palate, Cleft palate	ORPHA:1135
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Orofaciodigital Syndrome I	Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Hamartoma of tong...	OMIM:311200
Oculocerebrocutaneous Syndrome	Missing ribs, External ear malformation, Abnormal rib morphology, Orofacial cleft, Aplasia/Hypopl...	ORPHA:1647
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Missing ribs, Abnormal rib morphology, Anteriorly placed anus,...	ORPHA:1488
Microphthalmia With Brain And Digit Anomalies	Microcephaly, Sensorineural hearing impairment, High palate, Inferior cerebellar vermis hypoplasi...	ORPHA:139471
Acromelic Frontonasal Dysostosis	Encephalocele, U-Shaped upper lip vermilion, Tubulonodular pericallosal lipoma, Optic nerve hypop...	OMIM:603671
Halperin-Birk Syndrome	Optic atrophy, Colpocephaly, Thick vermilion border, High palate, Umbilical hernia, Agenesis of c...	OMIM:618651
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Microcephaly, Cleft l...	ORPHA:2745
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Microcephaly, Short thorax, Ri...	ORPHA:2311
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Ectopic anus, Gastroschisis, Cleft palate	ORPHA:2476
Microcephaly 26, Primary, Autosomal Dominant	Protruding tongue, Microcephaly, Dysplastic corpus callosum, Gingival overgrowth, Simplified gyra...	OMIM:619179
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Esophageal atresia, Tracheoesophageal fistula, Agenesis of corpus callosum, Hea...	ORPHA:77298
Otopalatodigital Syndrome, Type I	Omphalocele, Selective tooth agenesis, Cleft palate, Multiple impacted teeth, Narrow mouth	OMIM:311300
Holoprosencephaly 7	Omphalocele, Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Microcephaly, Cleft p...	OMIM:610828
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Cleft palate, Widely spaced teeth, Low-set ears, Mild hearing impai...	ORPHA:459061
Lateral Meningocele Syndrome	Posteriorly rotated ears, Dental crowding, Abnormality of the middle ear ossicles, Pectus excavat...	OMIM:130720
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Microcephaly, Cleft palate, Narrow mouth	ORPHA:93946
Cutis Laxa, Autosomal Recessive, Type Iib	Microcephaly, Pectus excavatum, Protruding ear, High palate, Long philtrum, Agenesis of corpus ca...	OMIM:612940
Heart Defects-Limb Shortening Syndrome	Abnormal rib morphology, Narrow chest	ORPHA:1354
Combined Oxidative Phosphorylation Deficiency 24	Microcephaly, Optic atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hear...	OMIM:616239
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl...	OMIM:614091
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Stromme Syndrome	Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi...	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septum pellucidu...	OMIM:615287
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs	OMIM:616546
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Abnormal pinna morphology, Microcephaly, Pierre-Robin sequence, Cleft palate, Anteriorly placed a...	OMIM:217980
3Mc Syndrome 1	Omphalocele, Dental crowding, Diastasis recti, Cleft upper lip, Microcephaly, Cleft lip, Abnormal...	OMIM:257920
1Q44 Microdeletion Syndrome	Exaggerated cupid's bow, Intestinal malrotation, Microcephaly, Thin vermilion border, High palate...	ORPHA:238769
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Fibrochondrogenesis	Hypoplastic scapulae, Hearing abnormality, Narrow mouth, Abnormal rib morphology, Cleft palate, B...	ORPHA:2021
20P13 Microdeletion Syndrome	Finger syndactyly, Wide anterior fontanel, Polydactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Cerebral calcification, Abnormal...	ORPHA:628
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Gray matter heterotopia, Cervical myelopathy, Agenesis of corpus ...	OMIM:207950
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo...	OMIM:617925
Fryns Syndrome	Omphalocele, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Polyhydra...	OMIM:229850
Holoprosencephaly 14	Median cleft lip, Absent septum pellucidum, Periventricular heterotopia, Microcephaly, Cleft lip,...	OMIM:619895
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Thin upper lip vermilion, Intestinal malrotation, Microcephaly, Velopharyngeal ...	OMIM:614701
Intellectual Disability-Strabismus Syndrome	Abnormality of the dentition, Microcephaly, Wide mouth, High palate, Thick vermilion border, Low-...	ORPHA:363528
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong...	ORPHA:2092
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Posteriorly rotated ears, Optic nerve hypoplasia, Microcephaly, Megarectum, Large earlobe, Hypodo...	OMIM:301056
Cat-Eye Syndrome	Abnormal rib morphology, Anal atresia, Hearing impairment	ORPHA:195
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Cerebellar vermis hypoplasia, Glossoptosis, High palate, Conductive hearing i...	OMIM:611209
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Chromosome 14Q11-Q22 Deletion Syndrome	Microcephaly, Optic atrophy, Macroglossia, High palate, Low-set ears, Narrow mouth, Hypoplasia of...	OMIM:613457
Holoprosencephaly 9	Abnormal cortical gyration, Optic nerve hypoplasia, Cleft upper lip, Microcephaly, Partial agenes...	OMIM:610829
Schilbach-Rott Syndrome	Posteriorly rotated ears, Microcephaly, Submucous cleft hard palate, Microtia, Narrow mouth, Bifi...	OMIM:164220
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, High, narrow palate, Cleft pal...	ORPHA:464738
Jeune Syndrome	Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,...	ORPHA:474
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Anteriorly placed an...	OMIM:602535
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Optic atrophy, Hypoplasia of the brains...	OMIM:253800
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal dental enamel morphology, Aplasia/Hypoplasia of the cerebellum, Pectus excavatum, Cleft ...	ORPHA:1812
Osteogenesis Imperfecta, Type Xv	Hypoplasia of the pons, Schizencephaly, Cerebellar hypoplasia, Thin ribs	OMIM:615220
Birk-Landau-Perez Syndrome	Microcephaly, Optic atrophy, Progressive sensorineural hearing impairment, Pachygyria, Agenesis o...	OMIM:617595
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal rib morphology, Pectus carinatum, Abnormal antihelix...	ORPHA:3082
15Q Overgrowth Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Dental cro...	ORPHA:314585
Craniosynostosis, Herrmann-Opitz Type	Abnormal antihelix morphology, Microtia, Abnormal rib morphology, Cleft palate	ORPHA:2145
Craniofrontonasal Syndrome	Down-sloping shoulders, Cleft upper lip, Pectus excavatum, Abnormality of the dentition, Cleft pa...	OMIM:304110
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Intellectual Developmental Disorder, Autosomal Recessive 65	Abnormal pinna morphology, Partial agenesis of the corpus callosum, Thin vermilion border, Hypopl...	OMIM:618109
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Posteriorly rotated ears, Optic atrophy, Gingival overgrowth, Narrow palate, Anterio...	OMIM:123790
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia, Missing ribs, Microcephaly, Esophageal atresia, Sens...	OMIM:206900
Intellectual Developmental Disorder, Autosomal Dominant 58	Posteriorly rotated ears, Dental crowding, Protruding tongue, Microcephaly, Submucous cleft hard ...	OMIM:618106
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Iniencephaly	Omphalocele, Polyhydramnios, Congenital diaphragmatic hernia, Orofacial cleft, Gastroschisis, Nar...	ORPHA:63259
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Agenesis of corpus callosum, Abnormal auditory evoked potentials	OMIM:109120
Fumarase Deficiency	Necrotizing enterocolitis, Microcephaly, Optic atrophy, Cerebral atrophy, Hypoplasia of the brain...	OMIM:606812
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Inguinal hernia, Diastasis recti, Polyhydramnios, Broad philtrum	ORPHA:254519
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Dysplastic corpus callosum, Thin lower lip vermilion...	ORPHA:363444
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Meningocele, Hypoplasia of the olfactory bulb, Wide mouth, Agene...	ORPHA:1827
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Intestinal malrotation	ORPHA:3035
Mosaic Variegated Aneuploidy Syndrome 1	Posteriorly rotated ears, Hypodysplasia of the corpus callosum, Microcephaly, Cleft palate, Short...	OMIM:257300
Simpson-Golabi-Behmel Syndrome	Omphalocele, Death in infancy, Inguinal hernia, Camptodactyly of finger, Polyhydramnios, Cleft up...	ORPHA:373
Achondrogenesis Type 1B	Short thorax, Abnormal rib morphology, Narrow chest, Long philtrum, Umbilical hernia	ORPHA:93298
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Microcephaly	OMIM:619239
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Microcephaly, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia	ORPHA:3201
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Secondary microc...	ORPHA:357058
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Protruding tongue, Microcephaly, Downturned corners of mouth, Macroglos...	ORPHA:96147
Mucopolysaccharidosis, Type Ix	Recurrent otitis media, Submucous cleft hard palate, Bifid uvula	OMIM:601492
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinod...	OMIM:619721
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Conductive hearing ...	OMIM:609053
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Micrognathia	OMIM:615761
Joubert Syndrome 10	Postaxial polydactyly	OMIM:300804
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of teeth, Macrot...	OMIM:234050
8P Inverted Duplication/Deletion Syndrome	Pectus excavatum, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower ...	ORPHA:96092
8Q22.1 Microdeletion Syndrome	Abnormal pinna morphology, Underfolded helix, Abnormality of the dentition, Microcephaly, Submuco...	ORPHA:178303
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Anal atresia	ORPHA:63260
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ...	ORPHA:352665
Microform Holoprosencephaly	Tented upper lip vermilion, Microcephaly, Cleft palate, Orofacial cleft, Short philtrum, Solitary...	ORPHA:280200
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dental crowding, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy...	OMIM:617296
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Posteriorly rotated ears, Microcephaly, Abnormality...	OMIM:608836
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Microcephaly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Hypoplasia of the...	ORPHA:2519
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Cleft palate, Hypoplasia of the corpus callosum,...	OMIM:614924
Cleidocranial Dysplasia	Delayed eruption of teeth, Hypoplastic scapulae, Down-sloping shoulders, Abnormal dental enamel m...	ORPHA:1452
Melnick-Needles Syndrome	Delayed eruption of teeth, Tooth malposition, Omphalocele	ORPHA:2484
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Opitz-Kaveggia Syndrome	Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Pyloric stenosis, Sensor...	OMIM:305450
Cerebrocostomandibular Syndrome	Cerebral calcification, Spina bifida, Microcephaly, Conductive hearing impairment, Myelomeningoce...	ORPHA:1393
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Neu-Laxova Syndrome	Cerebral calcification, Abnormality of the philtrum, Abnormal cortical gyration, Spina bifida, Ab...	ORPHA:2671
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Cerebellar vermis hypoplasia, Secondary microcephaly, Hypoplasia of the corpus ...	OMIM:620073
Alg9-Cdg	Omphalocele, Thin upper lip vermilion, Villous atrophy, Lipodystrophy, Pericardial effusion, Hydr...	ORPHA:79328
Codas Syndrome	Delayed eruption of teeth, Omphalocele, Polyhydramnios, Broad skull, Rectovaginal fistula, Enamel...	OMIM:600373
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Thin upper lip vermilion, Posteriorly rotated ears, Pectus excavatum, Prominent...	OMIM:619194
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Posteriorly rotated ears, Microcephaly, Deep philtrum, Wide mouth, Colpocephaly, Low-set ears, Hy...	OMIM:617260
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Orofaciodigital Syndrome Iii	Pectus excavatum, Supernumerary tooth, Tongue nodules, Short sternum, Low-set ears, Microdontia, ...	OMIM:258850
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate, Abnormal sternum morphology	ORPHA:166016
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Sensorineural he...	ORPHA:2712
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Abnormal rib morphology, High palate, Low-set ears, Sprengel a...	ORPHA:2180
Joubert Syndrome 16	Polydactyly	OMIM:614465
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Abnormality of the dentition, Dysplastic corpus callosum, Sensorineural hearing ...	OMIM:151050
Cardiofaciocutaneous Syndrome 1	Deep philtrum, Pectus carinatum, High palate, Open bite, Anterior creases of earlobe, Aplasia/Hyp...	OMIM:115150
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Posteriorly rotated ears, Beaded ribs, Microcephaly, Cleft palate, Large ...	OMIM:616897
Trisomy 8P	Posteriorly rotated ears, Microcephaly, Malrotation of small bowel, Aplasia/Hypoplasia of the tra...	ORPHA:264450
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	U-Shaped upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Abnormality of t...	ORPHA:847
Spondylometaphyseal Dysplasia, Sedaghatian Type	Abnormal scapula morphology, Abnormal rib morphology, Narrow chest, Cerebellar hypoplasia, Pachyg...	ORPHA:93317
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Schizencephaly, Cerebellar vermis hypoplasia, Clef...	OMIM:242840
Buratti-Harel Syndrome	Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi...	OMIM:619314
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Sensorineu...	ORPHA:488627
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal rib morphology, Tracheoesophageal fistula, Intes...	ORPHA:93941
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Optic disc pallor, Anterior rib cupping, Thin ribs, Prominent sternum, Thoracic kyphosis, High pa...	OMIM:300232
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Sotos Syndrome	Posteriorly rotated ears, High, narrow palate, Partial agenesis of the corpus callosum, Narrow pa...	OMIM:117550
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Wide mouth, Dysplastic corpus callosum, Microcephaly	OMIM:604273
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Tracheoesophagea...	OMIM:619227
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Thin ribs, Protru...	OMIM:612921
Desmosterolosis	Posteriorly rotated ears, Microcephaly, Partial agenesis of the corpus callosum, Cupped ear, Alve...	OMIM:602398
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Megalencephaly, Li...	OMIM:601707
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Flaring of lower rib cage, Cupped ribs, Optic...	ORPHA:168549
Holoprosencephaly	Omphalocele, Median cleft lip, Bilateral cleft lip, Congenital diaphragmatic hernia, Microcephaly...	ORPHA:2162
Thakker-Donnai Syndrome	Posteriorly rotated ears, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal fi...	ORPHA:1780
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Abnormality of the philtrum, A...	ORPHA:280
Kleefstra Syndrome	Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Pyl...	ORPHA:261494
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Posteriorly rotated ears, Exaggerated cupid's bow, Spina bifida, Partial agenesis of the corpus c...	OMIM:619480
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Short ribs, Horizontal ribs, Irregular chondrocostal junctions	OMIM:187760
Peroxisome Biogenesis Disorder 5A (Zellweger)	Sensorineural hearing impairment, Optic nerve dysplasia, Optic atrophy, Macrogyria, Cleft palate,...	OMIM:614866
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
21Q22.11Q22.12 Microdeletion Syndrome	Thin upper lip vermilion, Dental crowding, Microcephaly, Thick lower lip vermilion, Downturned co...	ORPHA:261323
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Foot polydactyly	ORPHA:210548
Loeys-Dietz Syndrome 5	Scapular winging, Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the...	OMIM:615582
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi...	ORPHA:397590
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, Premature loss of teeth, Optic atroph...	OMIM:224300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Intestinal malrotation, Polyhydramnios, Nonimmune hydrops fetalis, Diastasis recti, ...	OMIM:265380
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Genu valgum, Cli...	OMIM:620072
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Posteriorly rotated ears, Exaggerated cupid's bow, Microcephaly, Hypoplasia of the pons, Narrow m...	OMIM:619512
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Osteogenesis Imperfecta, Type Ix	Pectus excavatum, Pectus carinatum, Dentinogenesis imperfecta, Beaded ribs	OMIM:259440
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly	OMIM:602501
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Ascites, Omphalocele	OMIM:200995
Juberg-Hayward Syndrome	Microcephaly, Abnormal rib morphology, Orofacial cleft, Anteriorly placed anus, Dandy-Walker malf...	ORPHA:2319
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Craniosynostosis, Preaxial p...	OMIM:614976
Apert Syndrome	Delayed eruption of teeth, Absent septum pellucidum, Megalencephaly, Esophageal atresia, Pyloric ...	OMIM:101200
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger...	ORPHA:435638
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Thickened helices, Conductive hearing impairment, Pachygyria, Agene...	OMIM:607872
Esophageal Atresia	Omphalocele, Barrett esophagus, Intestinal malrotation, Polyhydramnios, Cleft lip, Pyloric stenos...	ORPHA:1199
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Sensorineural hearing impairment, Microtia, High palate, ...	OMIM:618500
Monosomy 9P	Abnormality of the dentition, Microcephaly, Narrow mouth, Abnormal rib morphology, Cleft palate, ...	ORPHA:261112
Zttk Syndrome	Abnormality of the dentition, Narrow mouth, Dysplastic corpus callosum, Submucous cleft hard pala...	OMIM:617140
D-Lactic Aciduria With Gout	Inguinal hernia, Microcephaly	OMIM:245450
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Microcephaly, Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, I...	OMIM:617660
Marden-Walker Syndrome	Posteriorly rotated ears, Absent septum pellucidum, Microcephaly, Pectus excavatum, Pyloric steno...	ORPHA:2461
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Anal stenosis, Omphalocele	OMIM:248450
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Celiac disease, Dysplastic corpus callosum, Sensorineural hearing impairment, Rib fusion, Periven...	ORPHA:544488
Lenz-Majewski Hyperostotic Dwarfism	Abnormal dental enamel morphology, Aplastic clavicle, Facial palsy, Absent septum pellucidum, Hig...	ORPHA:2658
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the corpus callosum,...	OMIM:613001
Myoectodermal Gonadal Dysgenesis Syndrome	Smooth philtrum, Omphalocele, Diastasis recti, Pyloric stenosis, Thin vermilion border, Hypodonti...	OMIM:618419
Arthrogryposis, Distal, Type 3	Down-sloping shoulders, Pectus excavatum, Submucous cleft hard palate, Cleft palate, High palate,...	OMIM:114300
Birk-Barel Syndrome	Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula	OMIM:612292
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Absent septum pellucidum, Anteverted ears, Deep philtrum, High palate, ...	OMIM:613884
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Hearing impairment	ORPHA:2578
Achondrogenesis Type 1A	Multiple rib fractures, Short thorax, Narrow chest, Long philtrum, Umbilical hernia	ORPHA:93299
Joubert Syndrome 27	Polydactyly	OMIM:617120
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Posteriorly rotated ears, Exaggerat...	OMIM:608670
Pancreatic Agenesis-Holoprosencephaly Syndrome	Abnormal pinna morphology, High palate, Low-set ears, Solitary median maxillary central incisor, ...	ORPHA:556955
Craniometadiaphyseal Dysplasia	Natal tooth, Dental crowding, Megalencephaly, Carious teeth, High palate, Low-set ears, Microdont...	OMIM:269300
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue...	ORPHA:2750
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Cerebellar vermis hypoplasia, Intestinal malrotation, Hamartoma of tongue, Late...	OMIM:263520
Meckel Syndrome, Type 1	Smooth philtrum, Thin upper lip vermilion, Natal tooth, Omphalocele, Intestinal malrotation, Camp...	OMIM:249000
Braddock Syndrome	Preaxial hand polydactyly, Missing ribs	ORPHA:52047
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Stickler Syndrome, Type I	Pectus excavatum, Sensorineural hearing impairment, Submucous cleft hard palate, Pierre-Robin seq...	OMIM:108300
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Mixed hearing impairment, Thickened helices, Abnormality of the mid...	ORPHA:581
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:614175
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Peripheral axonal neuropathy, Cerebellar hypoplasia, Narrow mouth	OMIM:618810
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Microcephaly, Thick lower lip vermilion, C...	OMIM:614609
Suleiman-El-Hattab Syndrome	Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Hypophosphatasia	Abnormal rib morphology, Narrow chest, Abnormality of the dentition	ORPHA:436
Ear-Patella-Short Stature Syndrome	Microtia, third degree, Posteriorly rotated ears, Aplastic clavicle, Microcephaly, High, narrow p...	ORPHA:2554
Lymphatic Malformation 6	Genital edema, Prune belly, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymph...	OMIM:616843
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Microcephaly, Pectus excavatum, Cleft lip, Optic atrophy, Clef...	ORPHA:97297
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis	OMIM:276822
Mycophenolate Mofetil Embryopathy	Tracheoesophageal fistula, Orofacial cleft, Anotia, Microtia, Atresia of the external auditory ca...	ORPHA:268249
Bartsocas-Papas Syndrome 1	Omphalocele, Anal stenosis, Inguinal hernia, Cleft upper lip, Flexion contracture, Cleft palate, ...	OMIM:263650
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Smooth philtrum	OMIM:614526
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Thin upper lip vermilion, Facial palsy, Spina...	ORPHA:508498
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Conica...	ORPHA:1071
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Median cleft lip, Orofacial cleft, Microcephaly	ORPHA:3186
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Pachygyria, Abnormality of neuronal migrati...	ORPHA:157
Cloacal Exstrophy	Omphalocele, Intestinal malrotation, Intestinal duplication, Bladder exstrophy, Cloacal exstrophy...	ORPHA:93929
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, Abnormal cerebral white ...	ORPHA:457279
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Abnormality of ...	ORPHA:2753
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metaca...	OMIM:169400
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Postaxial polydactyly, Tapered finger, Micrognathia, Retrognathia	OMIM:613792
Melnick-Needles Syndrome	Delayed eruption of teeth, Omphalocele, Cleft palate, Stillbirth, Tooth malposition	OMIM:309350
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intesti...	ORPHA:2729
Genitopatellar Syndrome	Delayed eruption of teeth, Microcephaly, Low-set ears, Long philtrum, Agenesis of corpus callosum...	ORPHA:85201
Poland Syndrome	Sprengel anomaly, Rib fusion, Short ribs	OMIM:173800
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Microcephaly, Submucous cleft hard palate, Do...	OMIM:619680
Genitourinary And/Or Brain Malformation Syndrome	Jejunal atresia, Absent septum pellucidum, Ileal atresia, Dysplastic corpus callosum, Protruding ...	OMIM:618820
Fibrochondrogenesis 2	Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia	OMIM:614524
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta	OMIM:184400
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Hamartoma of tongue, Periventricular heterotopia, Accessory or...	ORPHA:434179
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Microcephaly, Pectus excavatu...	OMIM:235730
Achondrogenesis, Type Ia	Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Protruding tongue, Short thorax, Bell-sha...	OMIM:200600
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Thin ribs, Gray matter heterotopia, Lateral ventricle dilat...	OMIM:617397
Branchioskeletogenital Syndrome	Attached earlobe, Mixed hearing impairment, Thoracolumbar kyphoscoliosis, Abnormality of the dent...	ORPHA:1299
Fraser Syndrome	Omphalocele, Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Microcephaly, Den...	ORPHA:2052
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele	ORPHA:371428
Mismatch Repair Cancer Syndrome 1	Adenomatous colonic polyposis, Gray matter heterotopia, Adenocarcinoma of the small intestine, Ad...	OMIM:276300
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Microcephaly, Abnormality of the gingiva, Absent cupid's bow, Abnorm...	ORPHA:513456
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Abnormal rib morphology, Cleft palate, Narrow chest, Narrow mo...	ORPHA:83
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Simplified gyral pattern, Protruding ear, Downturned corners of mouth, Short philtrum, Cerebellar...	ORPHA:500150
Rhizomelic Chondrodysplasia Punctata, Type 2	Submucous cleft hard palate, High palate, Optic nerve hypoplasia, Microcephaly	OMIM:222765
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Volvulus, Low-set ...	OMIM:267000
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Rectal abscess, Inte...	ORPHA:436252
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi...	OMIM:192350
Baller-Gerold Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Rib fusion, Optic atr...	OMIM:218600
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Death in infancy, Inguinal hernia, Aganglionic megacolon, Microcephaly, Cleft palate...	OMIM:308205
Xp21 Deletion Syndrome	Recurrent otitis media, Agenesis of corpus callosum, Everted lower lip vermilion	ORPHA:261476
Neurooculorenal Syndrome	Mixed hearing impairment, Cerebellar vermis hypoplasia, Intestinal malrotation, Hypoplasia of the...	OMIM:620305
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p...	ORPHA:59315
Phaver Syndrome	Posteriorly rotated ears, Myelomeningocele, Aplasia/Hypoplasia of the earlobes, Abnormal rib morp...	ORPHA:2876
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus	OMIM:613885
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Multiple Pterygium-Malignant Hyperthermia Syndrome	Posteriorly rotated ears, Exaggerated cupid's bow, Pectus excavatum, Narrow mouth, Abnormal rib m...	ORPHA:2215
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Submucous cleft soft palate, Unilateral alveo...	ORPHA:2751
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Sensorineural hearin...	ORPHA:506
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, C...	OMIM:300990
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Wide mouth, Short philtrum, Cerebellar hypoplasia, Low-set ears	ORPHA:163966
Autosomal Recessive Multiple Pterygium Syndrome	Microcephaly, Pectus excavatum, Hearing abnormality, Rib fusion, Abnormality of the tongue, Cleft...	ORPHA:2990
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Spina bifida, Microcephaly, Pectus excavatum, High, narrow...	OMIM:234100
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ...	ORPHA:1519
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Tented upper lip vermilion, Miscarriage, Interphalangeal joint contracture of finger...	ORPHA:96334
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Grayish enamel, Abnormality of the dentition, Carious teeth, S...	ORPHA:582
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Hypoplastic scapulae, Aplasia/Hy...	ORPHA:958
Hartsfield Syndrome	Median cleft lip, Posteriorly rotated ears, Cleft upper lip, Microcephaly, Cleft palate, Low-set ...	OMIM:615465
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Cleft palate, Anteriorly placed anus, Colpocephaly, Colon...	OMIM:309801
Lambotte Syndrome	Preaxial foot polydactyly	OMIM:245552
Becker Nevus Syndrome	Pectus excavatum, Rib fusion, Pectus carinatum, Supernumerary ribs, Spina bifida occulta	ORPHA:64755
Wolf-Hirschhorn Syndrome	Periventricular cysts, Orofacial cleft, Downturned corners of mouth, Short philtrum, Conductive h...	OMIM:194190
Focal Dermal Hypoplasia	Delayed eruption of teeth, Omphalocele, Inguinal hernia, Intestinal malrotation, Congenital diaph...	OMIM:305600
Omphalocele Syndrome, Shprintzen-Goldberg Type	Downturned corners of mouth, Thin upper lip vermilion, Omphalocele, Anal atresia	ORPHA:3164
Jacobsen Syndrome	Low-set, posteriorly rotated ears, Intestinal malrotation, Spina bifida, Missing ribs, Pyloric st...	ORPHA:2308
Meier-Gorlin Syndrome 5	Microcephaly, Submucous cleft hard palate, Microtia, Thick vermilion border, Low-set ears, Long p...	OMIM:613805
3M Syndrome	Delayed eruption of teeth, Scapular winging, Abnormal dental enamel morphology, Short thorax, Thi...	ORPHA:2616
Osteogenesis Imperfecta, Type Xvi	Multiple rib fractures, Beaded ribs, Tooth agenesis, Narrow chest, Conductive hearing impairment,...	OMIM:616229
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Pect...	OMIM:225500
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Pectus excavatum, Narrow mouth, Ab...	ORPHA:77301
Xylt1-Cdg	Microcephaly, Cleft palate, Thick vermilion border, Short clavicles, Long philtrum, Broad ribs	ORPHA:370930
Monosomy 13Q34	Agenesis of corpus callosum, Posteriorly rotated ears, Abnormal earlobe morphology, Microcephaly	ORPHA:96168
Yunis-Varon Syndrome	Aplasia/Hypoplasia of the scapulae, High, narrow palate, Broad secondary alveolar ridge, Glossopt...	ORPHA:3472
Pagod Syndrome	Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Microcephaly	ORPHA:991
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Thin upper lip vermilion, Thickened helices, Cleft soft palate, Microcephaly, High, nar...	OMIM:619950
1Q21.1 Microdeletion Syndrome	Microcephaly, Sensorineural hearing impairment, Ankyloglossia, High palate, Long philtrum, Agenes...	ORPHA:250989
Microgastria-Limb Reduction Defect Syndrome	Abnormal cortical gyration, Aplastic clavicle, Hiatus hernia, Intestinal malrotation, Esophageal ...	ORPHA:2538
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Conductive hearing impairment, Cleft pala...	ORPHA:306542
Multiple Pterygium Syndrome, X-Linked	Cleft upper lip, Cleft palate, Low-set ears, Thin ribs	OMIM:312150
Achondrogenesis, Type Ii	Barrel-shaped chest, Cleft palate, Short ribs, Long philtrum, Horizontal ribs	OMIM:200610
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Thin clavicles, Microcephaly, Thin ribs	ORPHA:93324
Ablepharon Macrostomia Syndrome	Omphalocele, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdontia, Umbilical h...	ORPHA:920
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Pectus excavatum, Hypoplasia of the corp...	ORPHA:457284
9Q21.13 Microdeletion Syndrome	Hip dysplasia, Polydactyly, Craniosynostosis	ORPHA:531151
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Absent septum pellucidum, Abnormality of the ear, Agenesis of corpus callo...	ORPHA:3339
Shprintzen-Goldberg Craniosynostosis Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Microcephaly, Lateral clavicle hook, Pectus ...	OMIM:182212
Exstrophy-Epispadias Complex	Omphalocele, Anal stenosis, Inguinal hernia, Microcephaly, Cystocele, Abnormality of the abdomina...	ORPHA:322
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Hydrolethalus Syndrome 1	Omphalocele, Median cleft lip, Polyhydramnios, Cleft palate, Stillbirth	OMIM:236680
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Melas	Peripheral axonal neuropathy, Intestinal pseudo-obstruction, Aplasia/Hypoplasia of the cerebral w...	ORPHA:550
Meier-Gorlin Syndrome 1	Incomplete partition of the cochlea type II, Absent sternal ossification, Microcephaly, Lateral c...	OMIM:224690
Alexander Disease	Cerebral calcification, Facial palsy, Megalencephaly, High palate, Abnormal autonomic nervous sys...	ORPHA:58
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Hypoplasia of the rad...	OMIM:311900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short metacarpal, Limited elbow movement, Craniosynostosis, Preaxial hand polydactyly, Enlarged m...	ORPHA:508533
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos...	OMIM:619879
Metatropic Dysplasia	Peripheral axonal neuropathy, Clavicular pseudarthrosis, Cupped ribs, Short ribs, Narrow chest, F...	OMIM:156530
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Microcephaly, Microtia, Submucous cleft soft palate, Hearing impairment	ORPHA:2282
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Carious teeth, High, narrow palate, Partial agenesis of th...	ORPHA:33364
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Abnormal rib morphology, Protruding ear, ...	ORPHA:3258
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Posteriorly rotated ears, Cupped ear, Downturned corners of mouth, Atresia o...	ORPHA:264200
Treacher Collins Syndrome 1	Cleft soft palate, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland morphology, Atresia...	OMIM:154500
Velocardiofacial Syndrome	Microcephaly, Velopharyngeal insufficiency, Submucous cleft hard palate, Abnormality of the ear, ...	OMIM:192430
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Congenital Myopathy 22B, Severe Fetal	Scapular winging, Thoracic scoliosis, Tented upper lip vermilion, Shoulder flexion contracture, D...	OMIM:620369
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Low-set ears	ORPHA:563612
Van Den Ende-Gupta Syndrome	Hypoplastic scapulae, Glenoid fossa hypoplasia, Posteriorly rotated ears, Dental crowding, Latera...	OMIM:600920
Myhre Syndrome	Submucous cleft hard palate, Abnormal rib morphology, Gingival cleft, Cleft palate, Abnormal lip ...	ORPHA:2588
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Congenital diaphragmatic hernia, C...	ORPHA:116
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Spondylocostal Dysostosis 3, Autosomal Recessive	Rib fusion	OMIM:609813
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Micrognathia, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal...	ORPHA:404440
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Microcephaly, Thick lower lip vermilion, Sim...	ORPHA:1465
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Anal stenosis, Malabsorption, Pectu...	ORPHA:235
Spondylometaphyseal Dysplasia, Schmidt Type	Stenosis of the external auditory canal, Cleft soft palate	ORPHA:93316
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Abnormal rib morphology	ORPHA:1486
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Osteopetrosis With Renal Tubular Acidosis	Cerebral calcification, Persistence of primary teeth, Pectus excavatum, Abnormality of the dentit...	ORPHA:2785
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of primary teeth	OMIM:300952
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Missing ribs, Pectus excavatum, Myelomeningocele, Short thorax, Rib fusion, Bell-s...	OMIM:613686
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ...	ORPHA:392
Mucopolysaccharidosis, Type X	Spatulate ribs, Broad clavicles, Diastema, Open bite, Widely spaced teeth, Long philtrum, Broad ribs	OMIM:619698
Sclerosteosis 1	Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, Dental malocclusion, Optic atroph...	OMIM:269500
Native American Myopathy	Submucous cleft soft palate, Cleft palate, Downturned corners of mouth, High palate, Conductive h...	ORPHA:168572
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Cleft upper lip, Esophageal atresia, Hydrops fetalis, Macrocephaly, Ectopic anus, Lo...	ORPHA:93271
Pontine Tegmental Cap Dysplasia	Sensorineural hearing impairment, Rib fusion, Facial palsy, Hypoplasia of the corpus callosum	OMIM:614688
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Hamart...	OMIM:109400
Alobar Holoprosencephaly	Median cleft lip, Microcephaly, Sensorineural hearing impairment, Cleft palate, Neural tube defec...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Microcephaly, Sensorineural hearing impairment, Cleft palate, Neural tube defec...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Microcephaly, Sensorineural hearing impairment, Cleft palate, Neural tube defec...	ORPHA:93924
Semilobar Holoprosencephaly	Median cleft lip, Microcephaly, Sensorineural hearing impairment, Cleft palate, Neural tube defec...	ORPHA:220386
Prune Belly Syndrome	Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Volvulus, Anal atresia, Intest...	ORPHA:2970
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Chilton-Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Uplifted earlobe, ...	OMIM:619841
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	High palate, Thin ribs	ORPHA:456328
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Carious teeth, Wide mouth, Cervical myelopathy, Prominent sternum, Widely spaced ...	OMIM:253010
Severe Congenital Nemaline Myopathy	Facial palsy, Abnormal thorax morphology, Thin ribs, Facial diplegia, Low-set ears	ORPHA:171430
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Lip pit, Non-midline cleft lip, Fibrous syngnathia, Abnormal rib morpho...	ORPHA:1300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft hard palate, Large basal g...	ORPHA:261537
Ring Chromosome 13 Syndrome	Posteriorly rotated ears, Microcephaly, Anencephaly, High palate, Short philtrum, Macrotia, Agene...	ORPHA:96176
Neu-Laxova Syndrome 1	Spina bifida, Swollen lip, Cleft upper lip, Thick lower lip vermilion, Cleft palate, Lissencephal...	OMIM:256520
Choanal Atresia	Polydactyly, Craniosynostosis	ORPHA:137914
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Cleft palate	ORPHA:250999
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Pectus excavatum, Submucous cleft hard palate, Optic atrophy, ...	ORPHA:1340
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Optic nerve hypoplasia, Cleft soft palate, Microcephaly, Optic atrophy, D...	OMIM:619321
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Cleft palate, Thin ribs	OMIM:618265
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Partial agenesis of the corpus callosum, Bifid uvula, ...	OMIM:270400
Shprintzen Omphalocele Syndrome	Omphalocele, Thin vermilion border, Anal atresia	OMIM:182210
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Tympanosclerosis, Enamel hypoplasia, Malabsorption	OMIM:240300
Pallister-Killian Syndrome	Tented upper lip vermilion, Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic...	OMIM:601803
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Low-set ears, Thin ribs	OMIM:300863
W Syndrome	Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Low-set ears	ORPHA:420794
1P36 Deletion Syndrome	11 pairs of ribs, Low-set, posteriorly rotated ears, Microcephaly, Pyloric stenosis, Sensorineura...	ORPHA:1606
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Posteriorly rotated ears, Cleft upper lip, Pectus excavatum, Microcephaly, Rib fusion, Gingival o...	OMIM:213980
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal rib morphology, Pectus carinatum	ORPHA:93351
Oeis Complex	Omphalocele, Intestinal malrotation, Anteriorly placed anus, Rectovaginal fistula, Duplicated col...	OMIM:258040
Campomelia, Cumming Type	Abnormal thorax morphology, Abnormal rib morphology, Cleft palate, Abnormal intestine morphology	ORPHA:1318
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Dysplastic corpus callosum, Anteriorly plac...	OMIM:619426
Johnson Neuroectodermal Syndrome	Preaxial hand polydactyly, Hand polydactyly	ORPHA:2316
Coffin-Siris Syndrome 1	Conical tooth, Partial agenesis of the corpus callosum, High palate, Short philtrum, Microdontia,...	OMIM:135900
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Orofacial cleft, Pectus carinatum, Downturned corners of mouth, Short...	ORPHA:1507
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microcephaly, High palate, Bilateral sensorineural hearing impairment, Hypoplasia of the corpus c...	OMIM:619418
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Protruding ear, Hypodontia, Submucous cleft soft pala...	ORPHA:69085
Osteogenesis Imperfecta, Type Ii	Bell-shaped thorax, Thin ribs, Thoracic hypoplasia, Beaded ribs	OMIM:166210
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, High, narrow palate, Dysplastic corpus callosum, Thick corpus callosum, Wide mou...	OMIM:300967
Kbg Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Macrodontia, Microcephaly, Rib fusion, Prot...	OMIM:148050
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal dental morphology, Spina bifida, Microcephaly, Pectus excavatum, Optic atrophy, Protrudi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal dental morphology, Spina bifida, Microcephaly, Pectus excavatum, Optic atrophy, Protrudi...	ORPHA:363958
Multiple Pterygium Syndrome, Lethal Type	Cleft palate, Low-set ears, Thin ribs	OMIM:253290
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Cerebral atrophy, Horizontal ribs	OMIM:614857
Brain-Lung-Thyroid Syndrome	Microcephaly, Sensorineural hearing impairment, Hypodontia, Cavum septum pellucidum, Agenesis of ...	ORPHA:209905
Joubert Syndrome 37	Prominent metopic ridge, Postaxial polydactyly	OMIM:619185
Mucopolysaccharidosis Type 6	Thick lower lip vermilion, Macroglossia, Chronic otitis media, Broad ribs, Hearing impairment	ORPHA:583
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Con...	OMIM:614557
Kyphomelic Dysplasia	Anterior rib cupping, Cleft upper lip, Lateral clavicle hook, Undulate ribs, Cleft palate, Low-se...	OMIM:211350
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Pectus excavatum, Thin ribs, Subcortical cerebral atrophy, High palate, Narrow mouth, Macrotia, B...	ORPHA:2463
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft hard palate, Large basal g...	ORPHA:2152
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia, Hip dysplasia, Postaxial polydactyly	OMIM:614576
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft hard palate, Large basal g...	ORPHA:261552
Double Outlet Right Ventricle	Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl...	ORPHA:3426
Campomelic Dysplasia	11 pairs of ribs, Irregular dentition, Thoracic scoliosis, Absent sternal ossification, Hypoplast...	OMIM:114290
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Anteriorly placed anus, Short upper lip, Wide mouth, Camptodactyly	OMIM:200110
Charge Syndrome	Hypoplasia of the semicircular canal, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malforma...	ORPHA:138
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Dental crowding, Spina bifida, Microcephaly, Pectus excavatum, Simple e...	OMIM:180849
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Recurrent otitis media, Cupped ribs, Dental malocclusion	OMIM:608940
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Polyhydramnios, Posteriorly placed anus, Anal atresia, Duodenal atresia	OMIM:306955
Mucopolysaccharidosis, Type Iva	Grayish enamel, Carious teeth, Pectus carinatum, Wide mouth, Cervical myelopathy, Prominent stern...	OMIM:253000
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Carious teeth, Abnormal rib morphology, Abnormal earlobe morphol...	ORPHA:2769
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cleft soft palate, Microcephaly, Pectus excavatum, Pyloric stenosis, Supernumerary tooth, Protrud...	ORPHA:268261
Schwartz-Jampel Syndrome	Low-set, posteriorly rotated ears, Pursed lips, Shoulder flexion contracture, Microcephaly, Pectu...	ORPHA:800
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Pectus carinatum, Posterior helix pit, Agenesis of corpus callosum,...	OMIM:312870
Hereditary Acrokeratotic Poikiloderma	Premature loss of primary teeth, Abnormality of the dentition, Open bite, Xerostomia, Abnormal ri...	ORPHA:2907
Kenny-Caffey Syndrome, Type 1	Carious teeth, Thin clavicles, Long clavicles, Thin ribs	OMIM:244460
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ...	OMIM:302960
Diamond-Blackfan Anemia	Cleft soft palate, Microcephaly, Cleft lip, Microtia, High palate, Low-set ears, Adenocarcinoma o...	ORPHA:124
Dubowitz Syndrome	Delayed eruption of teeth, Microcephaly, Carious teeth, Velopharyngeal insufficiency, Submucous c...	OMIM:223370
Peters-Plus Syndrome	Short lingual frenulum, Protruding ear, Anteriorly placed anus, Conical incisor, Widely spaced te...	OMIM:261540
Cog1-Cdg	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Pierre...	ORPHA:263508
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Aganglionic megacolon, Flaring of lower rib cage, Malabsorptio...	ORPHA:175
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Periventricular cysts, Increased caudate lactate level, Hyperinten...	ORPHA:3008
Fetal Akinesia Deformation Sequence 1	Posteriorly rotated ears, Absent septum pellucidum, High, narrow palate, Narrow mouth, Cleft pala...	OMIM:208150
Histiocytoid Cardiomyopathy	Agenesis of corpus callosum, Optic atrophy, Cleft palate	ORPHA:137675
Maternal Uniparental Disomy Of Chromosome 2	Clinodactyly of the 5th finger, Preaxial hand polydactyly, Abnormality of the ankle	ORPHA:96179
Fanconi Anemia, Complementation Group D2	Microcephaly, Esophageal atresia, Tracheoesophageal fistula, Low-set ears, Hypoplasia of the corp...	OMIM:227646
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Long clavicles, Down-sloping shoulders, Rib fusion, Den...	OMIM:265000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Short ribs, Narrow chest, Low-set ears, Thoracolumbar kyphosis, Thoracic hypoplasia	OMIM:151210
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Abnormality of the gingiva, Anteriorly placed anus, High palate, Sh...	ORPHA:798
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Gabriele-De Vries Syndrome	Abnormality of upper lip vermillion, Posteriorly rotated ears, Abnormality of the dentition, Esop...	ORPHA:506358
Cole-Carpenter Syndrome 2	Pectus excavatum, High palate, Dentinogenesis imperfecta, Thin ribs	OMIM:616294
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Brachydactyly, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg shortening, ...	ORPHA:397715
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Aganglionic megacolon, Abnormal dental enamel morphology, Abno...	ORPHA:818
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyly, Limited e...	ORPHA:221120
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology	ORPHA:2234
Proximal 16P11.2 Microdeletion Syndrome	Pyloric stenosis, Sensorineural hearing impairment, Rib fusion, Cleft palate, Conductive hearing ...	ORPHA:261197
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Abnormal sternum morphology, Cerebellar hypoplasia, Agenesi...	ORPHA:42775
Holoprosencephaly 2	Microcephaly, Submucous cleft hard palate, Bilateral cleft lip and palate, Cerebellar hypoplasia,...	OMIM:157170
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Slender long bone, Polydactyly, Hypoplastic pelvis, Hyperplasi...	OMIM:612731
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Hy...	ORPHA:2886
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Sensorineural hearing impairment, Macroglossia, Umbilical hernia, Agenesi...	ORPHA:226307
Charge Syndrome	Omphalocele, Anal stenosis, Polyhydramnios, Cleft upper lip, Microcephaly, Esophageal atresia, Tr...	OMIM:214800
Robinow Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Dental crowding, Missing ribs, Persistence of...	ORPHA:97360
Mend Syndrome	Microretrognathia, Broad hallux, Overlapping toe, Micrognathia, Long fingers, 2-3 toe syndactyly,...	OMIM:300960
Mesomelic Dysplasia, Kantaputra Type	Abnormal rib morphology	ORPHA:1836
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Aganglionic megacolon, Abnormal dental enamel morphology, Camptodac...	ORPHA:2273
Mandibulofacial Dysostosis, Guion-Almeida Type	Preaxial hand polydactyly, Slender finger, Proximal placement of thumb	OMIM:610536
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Scapular winging, Selective tooth agenesis, Persistence of primary tee...	OMIM:305620
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Thickened ribs, Hearing impairment	OMIM:252900
Otopalatodigital Syndrome, Type Ii	Omphalocele, Elbow contracture, Cleft palate, Stillbirth, Narrow mouth, Umbilical hernia	OMIM:304120
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Dental crowding, Deep philtrum, Downturned corners of mouth, High p...	OMIM:619503
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Hypoplasia of the olfactory bulb, Failure of eruption ...	ORPHA:2250
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Posteriorly rotated ears, Asymmetry of the ears, Persistence of primar...	OMIM:300166
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Micrognathia	ORPHA:314655
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Absent radius, Preaxial hand polydactyly, Hypoplasia of the radi...	ORPHA:233
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Sensorineural hearing impairment, Submucous cleft hard palate, High...	OMIM:618971
Hurler Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Macroglossia, Thick vermilion border, Ever...	ORPHA:93473
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Recurrent otitis media, Short...	OMIM:250420
Craniofacial Microsomia 1	Occipital encephalocele, Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Transve...	OMIM:164210
Joubert Syndrome 39	Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Cardiac Diverticulum	Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti	ORPHA:1686
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Pyloric stenosis, Thin ribs, Narrow chest, Broad ribs...	OMIM:613848
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Anal atresia, Persistent cloaca	OMIM:615709
Myotubular Myopathy With Abnormal Genital Development	High palate, Thin ribs	OMIM:300219
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Protruding ear, High palate, Short philtrum, Small earlobe, Pachygy...	OMIM:216340
Witteveen-Kolk Syndrome	Glue ear, Uplifted earlobe, High, narrow palate, Cortical dysplasia, Protruding ear, High palate,...	OMIM:613406
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Low-set ears, Microcephaly	OMIM:617478
Autosomal Dominant Centronuclear Myopathy	Pyloric stenosis, Peripheral axonal neuropathy, Thin ribs	ORPHA:169189
Alpha-Mannosidosis, Infantile Form	Optic disc pallor, Mixed hearing impairment, Thickened ribs, Pectus excavatum, Sensorineural hear...	ORPHA:309282
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing...	ORPHA:404448
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip bone morpholo...	ORPHA:261318
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Vertigo, Esophageal varix, Bilateral c...	OMIM:301068
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Cervical ribs, ...	OMIM:619297
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Posteriorly rotated ears, Submucous cleft soft palate, Abn...	ORPHA:3455
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Everted lower lip vermilion, Hearing impairment	OMIM:252930
Genitopatellar Syndrome	Delayed eruption of teeth, Anal stenosis, Periventricular heterotopia, Microcephaly, Malrotation ...	OMIM:606170
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Broad thumb, Delayed cranial ...	ORPHA:2211
Degcags Syndrome	Posteriorly rotated ears, Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, Se...	OMIM:619488
Beckwith-Wiedemann Syndrome	Omphalocele, Macroglossia, Diastasis recti	OMIM:130650
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Hearing impairment, Thin ribs	OMIM:259420
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypoplasia of the p...	OMIM:617063
Neuroocular Syndrome	Scapular winging, Microcephaly, Pectus excavatum, Unilateral deafness, Short uvula, Cupped ear, S...	OMIM:619539
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Posteriorly rotated ears, Thin ribs, Downturned corners o...	OMIM:264090
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion	OMIM:277300
Viss Syndrome	Chronic gastritis, High, narrow palate, Pectus carinatum, High palate, Broad uvula, Bifid uvula, ...	OMIM:619472
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Anteriorly placed anus, Sensorineural hearing impairment, Rectoperineal fistula, Agenesis of corp...	OMIM:618748
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Cupped ribs, Sensorineural hearing impairment	OMIM:609616
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Dental crowding, ...	OMIM:268310
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Microcephaly, Pectus...	OMIM:619325
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Microcephaly, Horizontal inferior border of scapula, Short thorax, Pect...	ORPHA:239
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Thick lower lip vermilion, Wide mouth, Macroglossia, Thick ve...	OMIM:252940
Hyperparathyroidism, Transient Neonatal	Undulate ribs, Thin ribs, Short ribs, Narrow chest, Low-set ears, Fractured rib, Umbilical hernia	OMIM:618188
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal rib morphology, Abnormal dental enamel morphology	ORPHA:2050
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Greenberg Dysplasia	Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ...	OMIM:215140
Alagille Syndrome	Spina bifida occulta, Abnormal rib morphology, Short philtrum, Protruding ear	ORPHA:52
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Abnormality of the dentition, Thin ribs	OMIM:617952
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Protruding ear, Periodontitis, Chronic otitis media, ...	ORPHA:534
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Micrognathia, Postaxial polydactyly, Long fi...	OMIM:617527
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Hearing impairment	OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Posteriorly rotated ears, Cleft lip, Cleft palate, Umbilical hernia, Thick vermilion border, Ever...	OMIM:301066
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the sternum, Missing ribs, Microcephaly, Abnormal rib morpho...	ORPHA:2911
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, Thin ribs	OMIM:615368
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Papilledema, Thickened ribs, Abnormal dental morphology, Sensorineural hearing impa...	ORPHA:217093
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly	OMIM:618891
Aspergillosis	Abnormal rib morphology, Abnormal esophagus morphology	ORPHA:1163
Occipital Horn Syndrome	Orthostatic hypotension, Broad clavicles, Pectus excavatum, Hiatus hernia, Pectus carinatum, High...	OMIM:304150
Cantú Syndrome	Wide mouth, Umbilical hernia, Thick vermilion border, Narrow chest, Long philtrum, Broad ribs	ORPHA:1517
Pyknoachondrogenesis	Short thorax, Enlarged thorax, Abnormality of mouth shape, Short ribs, Low-set ears, Horizontal ribs	ORPHA:3003
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hip dysplasia	OMIM:300968
Monosomy 22Q13.3	Dental crowding, Dental malocclusion, Umbilical hernia, Macrotia, Agenesis of corpus callosum, He...	ORPHA:48652
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Natal tooth, Thin clavicles, Large ...	ORPHA:1662
Gm1-Gangliosidosis, Type I	Cerebral degeneration, Thickened ribs, Gingival overgrowth	OMIM:230500
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth, Abnormal rib morphology, Narrow chest...	ORPHA:667
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Hearing impairment, Absent septum pellucidum, Microcephaly, Ab...	ORPHA:2556
Dextrocardia	Meckel diverticulum, Abnormal rib morphology, Intestinal malrotation, Aplasia/Hypoplasia of the ear	ORPHA:1666
Holoprosencephaly 1	Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Median cleft lip and palate	OMIM:236100
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad ribs, High palate	ORPHA:85184
Radio-Renal Syndrome	Downturned corners of mouth, High, narrow palate, Abnormal rib morphology	ORPHA:3015
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Stomatitis, Broad ribs, Flaring of rib cage	OMIM:612852
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Thin upper lip vermilion, Dental crowding, High, narrow palate, Dysplastic corpus callosum, Wide ...	ORPHA:466791
Helsmoortel-Van Der Aa Syndrome	Prominent fingertip pads, Sandal gap, Broad hallux, Tapered finger, Carious teeth, Small hand, Ge...	OMIM:615873
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Craniosynostosis, Postaxial hand polydactyly, Polydactyly, Short ribs, Me...	OMIM:613610
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Posteriorly rotated ears, Missing ribs, Narrow palate, Thin ribs, High pala...	OMIM:200980
Congenital Sialidosis Type 2	Polydactyly	ORPHA:93400
Nestor-Guillermo Progeria Syndrome	Dental crowding, Dental malocclusion, Thin ribs, Rib osteolysis, Progressive clavicular acroosteo...	OMIM:614008
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Posteriorly rotated ears, Cupped ribs, Horizontal inferior border of scapula, P...	OMIM:250220
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Lateral ventricle dilatation, Optic nerve compression, Optic atrophy	OMIM:612301
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Agenesis of corpus callo...	ORPHA:95494
Pallister-Hall Syndrome	Natal tooth, Posteriorly rotated ears, Cleft upper lip, Rib fusion, Cleft palate, Anteriorly plac...	OMIM:146510
Osteogenesis Imperfecta	Delayed eruption of teeth, Multiple rib fractures, Mixed hearing impairment, Intestinal obstructi...	ORPHA:666
Townes-Brocks Syndrome	Rectoperineal fistula, External ear malformation, Abnormal rib morphology, Anteriorly placed anus...	ORPHA:857
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Preaxial hand po...	OMIM:107480
Craniotubular Dysplasia, Ikegawa Type	Optic neuropathy, Thick lower lip vermilion, Optic atrophy, Long philtrum, Broad ribs, Optic nerv...	OMIM:619727
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Dental malocclusion, Deep palmar crease, Hip ...	OMIM:616580
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly	ORPHA:1297
Gracile Bone Dysplasia	Ankyloglossia, Thin ribs	OMIM:602361
Restrictive Dermopathy 1	Natal tooth, Thin clavicles, Narrow mouth, Submucous cleft hard palate, Hydropic placenta, Short ...	OMIM:275210
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Abnormal pinna morphology, High, narrow palate, Abnormal rib morphology, Ab...	ORPHA:95699
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Carious teeth, Pectus carinatum, Cervical myelopathy, Macroglossia, Pr...	OMIM:253200
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teeth, Esophageal str...	ORPHA:2908
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Missing ribs, Rib fusion, Thin ribs, Short ribs, Anal atresia	OMIM:271520
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Joubert Syndrome 14	Postaxial polydactyly	OMIM:614424
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Posteriorly rotated ears, Microcephaly, Submucous cleft hard palate, Neoplasm of the tongue, Abno...	ORPHA:3047
Stuve-Wiedemann Syndrome 1	Pursed lips, Carious teeth, Thin ribs, Thin vermilion border, Smooth tongue, Abnormal autonomic n...	OMIM:601559
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:220111
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Polydactyly, Acromesomelia, Clinodactyly of the 5t...	ORPHA:464306
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Cerebral atrophy, Hypoplasia of first ribs, Macroglossia, Short sternum, Low-set ...	OMIM:269150
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Sensorineural hearing impairment, Narrow philtrum, Thin ribs, Thin ver...	OMIM:601812
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Papilledema, Thickened ribs, Abnormal dental morphology, Sensorineural hearing impa...	ORPHA:217085
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Posteriorly rotated ears, Aplastic clavicle, Microcephaly, Submucous cleft hard palate, Cleft pal...	ORPHA:2636
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Narrow chest, Thin ribs	ORPHA:73230
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Rabson-Mendenhall Syndrome	Mandibular prognathia, Advanced eruption of teeth, Polydactyly	ORPHA:769
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Ulbright-Hodes Syndrome	Abnormal pinna morphology, Narrow mouth, Abnormal rib morphology, Thin ribs, Thin vermilion borde...	ORPHA:3404
Mucolipidosis Iii Alpha/Beta	Broad ribs, Short ribs	OMIM:252600
Weill-Marchesani Syndrome 2	Narrow palate, Umbilical hernia, High palate, Thickened helices, Broad ribs, Tooth malposition	OMIM:608328
Brachytelephalangic Chondrodysplasia Punctata	Optic nerve hypoplasia, Abnormality of the costochondral junction, Mixed hearing impairment	ORPHA:79345
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Myhre Syndrome	Thin upper lip vermilion, Microcephaly, Cleft lip, Cleft palate, Microtia, Short philtrum, Low-se...	OMIM:139210
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal rib morphology, Irregularly spaced teeth, Hearing impairment	ORPHA:249
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Syndactyly, Broad hallux, Deviation of the hallux, Micrognathia, Carious teeth, Avas...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Syndactyly, Broad hallux, Deviation of the hallux, Micrognathia, Carious teeth, Avas...	ORPHA:353277
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Mesoaxial polydactyly, Toe syndactyly, Overlapping toe, Radial bo...	ORPHA:672
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	11 pairs of ribs, Cupped ribs, Cleft palate, Abnormal rib cage morphology, High palate, Flaring o...	OMIM:271640
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma...	OMIM:303600
X-Linked Hypophosphatemia	Odontodysplasia, Beaded ribs, Enlargement of the costochondral junction, Sensorineural hearing im...	ORPHA:89936
Khan-Khan-Katsanis Syndrome	Clinodactyly, Postaxial polydactyly, Micrognathia	OMIM:618460
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs	OMIM:618395
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs	OMIM:208500
Weill-Marchesani Syndrome 1	Broad ribs, Tooth malposition, Narrow palate	OMIM:277600
Mandibuloacral Dysplasia Progeroid Syndrome	Pectus excavatum, Intra-oral hyperpigmentation, Thin ribs, High palate, Supernumerary ribs, Short...	OMIM:619127
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly	ORPHA:17
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Long clavicles, Microcephaly, Pyloric stenosis, Cleft palate, Thin ribs...	ORPHA:83617
Neurocardiofaciodigital Syndrome	Syndactyly, Retrognathia, Polydactyly	OMIM:619869
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Retrognathi...	OMIM:610168
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Barrel-shaped chest, Occipital meningocele, Abnormal pinna morphology, Broad clavicles, Congenita...	OMIM:276820
Cerebrooculonasal Syndrome	Craniosynostosis, Postaxial hand polydactyly, Postaxial polydactyly	OMIM:605627
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly, Micrognathia	OMIM:301022
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Congenital sensorineural hearing impairment, Rib fusion, Wide mouth, Fu...	OMIM:157800
Meckel Syndrome	Postaxial foot polydactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Bowing of the ...	ORPHA:564
Acrocapitofemoral Dysplasia	Pectus excavatum, Cupped ribs, Pectus carinatum, Short ribs, Narrow chest	OMIM:607778
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Dentinogenesis imperfecta, Thin ribs	OMIM:610915
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal pinna morphology, Spina bifida occulta, Abnormal rib morphology	ORPHA:488434
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia	ORPHA:137605
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Pectus excavatum, Hearing abnormality, Narrow chest, Long philtrum, Denti...	OMIM:610682
Bent Bone Dysplasia Syndrome 2	Short sternum, Short ribs, Thin ribs	OMIM:620076
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger...	ORPHA:480880
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cupped ribs	ORPHA:85167
Alagille Syndrome 1	Macrotia, Abnormal rib morphology, Low-set ears	OMIM:118450
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar kyphosis, Thoracic hypoplasia, Horizontal ribs	OMIM:618019
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Dental crowding, Thin ribs	OMIM:225400
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial hand polydact...	OMIM:113620
Coccidioidomycosis	Broad ribs, Hearing impairment	ORPHA:228123
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Broad first metatarsal, Polydactyly, Broad thumb	OMIM:619534

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 Efnb1

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 Efnb1.

No publications found that use IMPC mice or data for Efnb1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Efnb1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Efnb1^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Efnb1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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