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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Teratocarcinoma-Derived growth factor 1
Microcephaly, Hypoplasia of the corpus callosum, Absent septum pellucidum OMIM:187395
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Syngnathia
Cleft palate OMIM:119550
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Omphalocele, Cleft palate OMIM:258320
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Craniosynostosis, Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx ... OMIM:218530
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:171703
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Polydactyly, Postaxial, Type A6
Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of the basal ganglia, Agenesis of ... ORPHA:101029
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplastic corpus callosum, Polymicrogy... OMIM:604213
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Cortical dysplas... OMIM:608716
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Lipedema
Edema, Lipedema OMIM:614103
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar vermis hyp... OMIM:611603
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Single ... OMIM:617927
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum OMIM:600329
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Dental crowding, Hypoplasia of the corpus callosum, Smooth philtrum, Thin upper lip vermilion, Se... OMIM:612948
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Narrow mouth, Downturned corners of mouth, Omphalocele ORPHA:1906
Omphalocele
Omphalocele ORPHA:660
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Abnormality of the dentition, Dysplastic corpus callos... ORPHA:500166
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Swollen lip, Facial edema OMIM:619363
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogy... ORPHA:250972
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Agenesis of corpus callosum, Colon cancer, Gray matter heterotopia OMIM:619101
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hearing impairment, Cortical dysplasi... OMIM:617201
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Macrotia, Cerebellar hypoplasia, Thick vermilion border, Simplified ... OMIM:617090
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum, Partial agenesis of the c... ORPHA:85179
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Mental Retardation, Autosomal Dominant 22
Abnormality of the pinna, Smooth philtrum, Low-set ears, Thin upper lip vermilion, Microcephaly, ... OMIM:612337
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly ORPHA:2091
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus callosum OMIM:600348
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebra... OMIM:618492
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Microdontia, Widely spaced teeth, Partial agenesis of the corpus callosum OMIM:233810
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum, Posteriorly rotated ears, Low-set ears, Aplasia/Hypoplasia of the cerebellar... OMIM:300864
Omphalocele, X-Linked
Omphalocele OMIM:310980
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia, Syndactyly, Brachyda... OMIM:617866
2q33.1 deletion syndrome
High palate, Inguinal hernia, Cleft palate DECIPHER:51
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, High palate, Abnormal ear morphology, Primary microcephaly OMIM:618010
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Spastic Paraplegia 81, Autosomal Recessive
Sensorineural hearing impairment, Periventricular white matter hyperdensities, Cleft palate, Bifi... OMIM:618768
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Agenesis of corpus callosum, Open mouth, Simplified gyral pattern OMIM:616681
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft upper lip, Cleft palate OMIM:614402
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb OMIM:176305
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Pectus carinatum, Abnormality of the dentition, Abnormality of the r... ORPHA:3268
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Partial agenesis of the corpus cal... OMIM:616051
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Thin vermilion border, Narrow mouth, Frontal cortical atrophy, Low-set ears, Parietal cortical at... OMIM:618766
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Corpus Callosum, Partial Agenesis Of, X-Linked
Inferior vermis hypoplasia, Microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus c... OMIM:304100
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Thin ribs, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Micr... OMIM:614833
Craniotelencephalic Dysplasia
Arrhinencephaly, Low-set, posteriorly rotated ears, Cerebellar hypoplasia, Septo-optic dysplasia,... ORPHA:1528
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Agenesis of corpus callosum, ... OMIM:174300
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Downturned corners of mouth, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenes... ORPHA:262767
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
3Q13 Microdeletion Syndrome
Long philtrum, Agenesis of corpus callosum, Narrow chest ORPHA:1621
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Developmental And Epileptic Encephalopathy 88
Progressive microcephaly, Inferior vermis hypoplasia, Partial agenesis of the corpus callosum, Hy... OMIM:618959
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Schisis Association
Omphalocele, Unilateral cleft lip, Anal atresia, Congenital diaphragmatic hernia, Cleft palate, M... ORPHA:63862
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... OMIM:218670
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum OMIM:211200
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs, Microcephaly ORPHA:2435
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormal thorax morphology, Cleft pal... OMIM:164180
Warburg Micro Syndrome 1
Thin vermilion border, Narrow mouth, Macrotia, Hypoplasia of the corpus callosum, Cerebellar verm... OMIM:600118
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures OMIM:611369
Miller-Dieker Syndrome
Polyhydramnios, Abnormality of upper lip, Omphalocele ORPHA:531
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Trigonocephaly 1
Meckel diverticulum, Microcephaly, Omphalocele OMIM:190440
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Arthrogryposis multiplex congenita, Edema, Cleft palate OMIM:616570
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Hearing impairment, Microcephaly, Optic atrophy, Agenesis of corpus ca... OMIM:617669
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Orofaciodigital Syndrome Type 10
Prominent calcaneus, Oligodactyly, Radial deviation of the hand, Mesomelic arm shortening, Tarsal... ORPHA:2756
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Thin upper lip vermilion, Hypoplasia of the frontal lobes, M... ORPHA:2512
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Toe syndactyly, Postaxial hand polydactyly, Broad thumb, Finger syndac... ORPHA:380
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Accessory oral frenulum, Large earlobe, Absent tragus, Overfolded h... ORPHA:79113
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Syndactyly, Abnormal hip bone morphology, Upper limb phocomelia ORPHA:294975
Branchiootic Syndrome
Conductive hearing impairment, Branchial fistula, Atresia of the external auditory canal, Morphol... ORPHA:52429
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Baraitser-Winter Syndrome 2
Long philtrum, Pachygyria, Abnormality of the pinna, Wide mouth, Oral cleft, Thin upper lip vermi... OMIM:614583
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate ORPHA:2736
Childhood Apraxia Of Speech
Abnormal caudate nucleus morphology, Drooling, Overfolded helix, High, narrow palate, Caudate atr... ORPHA:209908
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly OMIM:614120
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Pectus excavatum, Low-set ears, Cupped ear, Sensorineural hearing impairment, High palate, Agenes... OMIM:300472
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Macrotia, Hypoplasia of the corpus callosum, Wide mouth,... OMIM:616212
Coffin-Siris Syndrome 11
Uplifted earlobe, Downturned corners of mouth, Esophageal atresia, Wide mouth, Bifid uvula, High ... OMIM:618779
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Auriculocondylar Syndrome 3
Bilateral conductive hearing impairment, Question mark ear, Stenosis of the external auditory can... OMIM:615706
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Camptodactyly, Abnormality of the dentition, Omphalocele, Triangular mouth, Relati... OMIM:618529
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Omphalocele, Umbilical hernia OMIM:275100
Distal Trisomy 15Q
Long philtrum, Camptodactyly of finger, Downturned corners of mouth, Omphalocele, Anal atresia, H... ORPHA:1707
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Acalvaria
Omphalocele, Cleft palate ORPHA:945
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Relative macrocephaly, Omphalocele OMIM:614450
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Conductive hearing impairment, Abnormality of the outer ear, Synotia, Mic... OMIM:202650
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormality of the philtrum, Chronic otitis media, Abnormality of t... ORPHA:276422
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Tooth malposition, Hypoplasia of the corpus callosum, Pectus excavatum, High palate, Cleft palate... OMIM:618603
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short philtrum, Narrow chest, Downturned corners of mouth, Low-set ... ORPHA:93267
Holoprosencephaly 11
Microcephaly, Cleft lip, Agenesis of corpus callosum, Cleft palate OMIM:614226
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Cleft Velum
Conductive hearing impairment, Cleft soft palate, Recurrent otitis media, Velopharyngeal insuffic... ORPHA:99772
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia of primary teeth, No perm... OMIM:216300
Endosteal Hyperostosis, Worth Type
Torus palatinus, Clavicular sclerosis, Facial palsy, Sensorineural hearing impairment, Abnormalit... ORPHA:2790
Isolated Trigonocephaly
Omphalocele ORPHA:3366
Congenital Velopharyngeal Incompetence
Hearing impairment, Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Amish Lethal Microcephaly
Spina bifida, Cerebellar vermis hypoplasia, Microcephaly, Optic atrophy, Cleft soft palate, Agene... ORPHA:99742
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Complete duplication of the 1st metatarsal, Clinodactyly of the 5th finger, Preaxial polydactyly OMIM:129540
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus ... OMIM:619302
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Agenesis of corpus callosum, Optic atrophy OMIM:274270
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Tongue fasciculations, Dysplastic corpus callosum OMIM:618276
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus ... OMIM:619301
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Agenesis of corp... OMIM:182230
Weaver-Williams Syndrome
Microcephaly, Protruding ear, Narrow mouth, Cleft palate ORPHA:3448
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pectus excavatum, High palate, Optic atrophy, Microcephaly, Partial agenesis of the corpus callosum OMIM:245349
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Omphalocele ORPHA:1263
Isolated Anencephaly
Omphalocele, Cleft lip, Congenital diaphragmatic hernia ORPHA:563609
X-Linked Intellectual Disability, Abidi Type
Pectus excavatum, Non-midline cleft lip, Hearing impairment, Protruding ear, Cleft palate, Microc... ORPHA:85273
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism, Cleft upper lip, Cleft palate OMIM:601016
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypopla... ORPHA:255138
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Aplasia/Hypoplasia of the corpus callosum, Everted lower lip vermilion, Cerebellar vermis hypopla... OMIM:616819
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Short Stature And Facioauriculothoracic Malformations
Overfolded helix, Pectus carinatum, Pectus excavatum, High palate, Low-set ears, Cupped ear, Cerv... OMIM:609654
Nevus Comedonicus Syndrome
Preaxial polydactyly, Toe syndactyly, Finger syndactyly ORPHA:64754
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Short long bone, Syndactyly, Acetabular ... OMIM:615503
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Horizontal ribs, Postaxial polydactyly, ... OMIM:613091
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Absent hippocampal ... OMIM:617542
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Lissencephaly, X-Linked, 2
Long philtrum, Pachygyria, Long upper lip, Low-set ears, Thin upper lip vermilion, High palate, A... OMIM:300215
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Optic atrophy, Stenosis of the external auditory canal, Conductive heari... ORPHA:1513
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Lissencephaly Type Iii And Bone Dysplasia
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Microlissencephaly, Agenesis of corpu... OMIM:601160
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Knee flexion contracture OMIM:606242
Biemond Syndrome Ii
Preaxial hand polydactyly OMIM:210350
Microcephaly, Amish Type
Progressive microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum OMIM:607196
Masa Syndrome
Microcephaly, Agenesis of corpus callosum OMIM:303350
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Cortical dysplasia, Agenesis of corpus callosum, Bilateral sensorineur... OMIM:619083
Mental Retardation, Buenos Aires Type
Carious teeth, Pectus carinatum, Pectus excavatum, High palate, Wide mouth, Low-set ears, Thin up... OMIM:249630
6Q25 Microdeletion Syndrome
Long philtrum, Low-set, posteriorly rotated ears, High palate, Abnormality of the pinna, Sensorin... ORPHA:251056
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Cerebellar hypoplasia, Abnorma... ORPHA:899
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Macrotia,... OMIM:218000
Chromosome 22Q11.2 Duplication Syndrome
High palate, Abnormality of the pinna, Low-set ears, Microcephaly, Velopharyngeal insufficiency OMIM:608363
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal cranial nerve morphology, Sprengel anomaly, Ectopic anus, Hearing impairme... ORPHA:2345
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Short metacarpal, Bra... ORPHA:1278
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Rhiny
Thin vermilion border, Inguinal hernia OMIM:180360
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth OMIM:183300
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Microcephaly, Cleft upper lip, Cleft palate OMIM:601420
Glycine Encephalopathy
Agenesis of corpus callosum OMIM:605899
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Low-set ears, Microcepha... ORPHA:168486
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Narrow mouth, Narrow int... ORPHA:990
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, Macrotia, Low-set ears, High palate, High, narrow palate, Agenesis of corpus call... OMIM:615433
Triploidy
Polyhydramnios, Macroglossia, Narrow mouth, Intestinal malrotation, Wide mouth, Non-midline cleft... ORPHA:3376
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Protruding ear, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Short philtrum, Tented upper lip vermilion, Microcephaly, Optic atrophy, Partial agenesis of the ... OMIM:618346
Adducted Thumbs Syndrome
High palate, Cerebral dysmyelination, Cleft palate, Microcephaly, High, narrow palate, Velopharyn... OMIM:201550
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Macrocephaly, Inguinal hernia ORPHA:1568
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Inguinal hernia, Incr... OMIM:618761
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Low-set ears, Pectus excavatum, Agenesis of corpus callosum ORPHA:166024
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Camptodac... OMIM:175700
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Craniosynostosis, Finger sy... ORPHA:65759
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:307000
Hydrolethalus
Absent septum pellucidum, Arrhinencephaly, Low-set, posteriorly rotated ears, Anencephaly, Gingiv... ORPHA:2189
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands ORPHA:85287
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Megalencephaly, Abnormal corpus callosum morphology, Anteri... ORPHA:280195
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Bifid uvula ORPHA:2669
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short philtrum, Narrow mouth, Hypoplasia of the corpus callosum, Small cerebral cortex, Low-set e... OMIM:617360
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Br... ORPHA:50815
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Lobulated tongue OMIM:617127
Trisomy 1Q
Polyhydramnios, Camptodactyly of finger, Hydrops fetalis, Narrow mouth, Omphalocele, Increased nu... ORPHA:261344
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Optic disc coloboma, Pectus excavatum, Abnormality of the pinna, Low-set ears, Cupped ear, Hearin... ORPHA:52055
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pierre-Robin sequence, Pectus excavatum, Cleft palate, A... OMIM:602196
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Type II lissencephaly, Gray matter heterotopia, Cerebellar hypoplasi... OMIM:615287
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Velopharyngeal insufficiency OMIM:617732
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Agenesis of co... OMIM:225790
Pyruvate Dehydrogenase E1-Alpha Deficiency
Long philtrum, Basal ganglia cysts, Cerebral atrophy, Microcephaly, Agenesis of corpus callosum OMIM:312170
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopituitarism, U-Shaped upper lip v... OMIM:603671
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Thin vermilion border, Cerebellar hypoplasia, Sensorineural hearing impairment, Ab... OMIM:214150
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Oligohydramnios, Flexion contracture, Omphalocele, Smooth philtrum, Congenital di... OMIM:263210
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft lip and palate, Cleft upper lip OMIM:601357
Colonic Atresia
Colonic atresia, Omphalocele, Gastroschisis, Peptic ulcer, Duodenal stenosis ORPHA:1198
Jaberi-Elahi Syndrome
Abnormality of the dentition, Low-set ears, Protruding ear, Triangular mouth, Microcephaly, Optic... OMIM:617988
Imagawa-Matsumoto Syndrome
Polymicrogyria, Anteriorly placed anus, Agenesis of corpus callosum, Umbilical hernia OMIM:618786
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Donnai-Barrow Syndrome
Intestinal malrotation, Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia, Macrocephaly ORPHA:2143
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Bilateral talipes equinovarus, Preaxial polydactyly, Postaxial polydactyly OMIM:618142
Frontonasal Dysplasia 1
Widely-spaced maxillary central incisors, Conductive hearing impairment, Lipoma of corpus callosu... OMIM:136760
Mosaic Trisomy 14
Narrow chest, Low-set, posteriorly rotated ears, Wide mouth, Ectopic anus, Cleft palate, Abnormal... ORPHA:1703
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Lymphedema, Omphalocele, Thin upper lip vermilion, Severe hydrops fetalis OMIM:601927
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Al-Gazali-Bakalinova Syndrome
Pectus carinatum, Pectus excavatum, Agenesis of corpus callosum OMIM:607131
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Br... ORPHA:107
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Long philtrum, Basal ganglia cysts, Low-set ears, Posteriorly rotated ears, Thin upper lip vermil... OMIM:613623
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Thin vermilion border, Agenesis of corpus callosum, Shield chest ORPHA:261519
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Tooth agenesis, Sensorineural hearing impairment, Cleft upper lip, Cleft palate, Agenesis of corp... OMIM:147950
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Branchial cyst, Conductive hearing impairment, Branchial fistula, Inte... OMIM:113650
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Pre... ORPHA:1540
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Arthrogryposis, Distal, Type 1C
Pursed lips, Shoulder flexion contracture, Thin vermilion border, Camptodactyly of finger, Narrow... OMIM:619110
Lethal Congenital Contracture Syndrome 10
Long philtrum, Hydrops fetalis, Narrow palate, Oligohydramnios, Omphalocele, High palate OMIM:617022
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula, Hearing impairment OMIM:256200
Hydrocephalus With Associated Malformations
Intestinal malrotation, Omphalocele OMIM:236640
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly, Short ribs OMIM:613819
Meckel Syndrome 12
Cerebellar hypoplasia, Low-set ears, Bifid uvula, Microcephaly, Cerebral hypoplasia, Agenesis of ... OMIM:616258
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Type II lissencephaly, Sensorineural hearing impairment, High palate... ORPHA:300570
Ehlers-Danlos Syndrome, Periodontal Type, 2
Umbilical hernia, Periodontitis, Inguinal hernia, Gingival bleeding OMIM:617174
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Optic nerve hypoplasia, Spina bifida occulta, Microcephaly, Dandy-Wa... OMIM:618736
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Short philtrum, Cerebellar vermis hypoplasia, Hearing impairment, Cleft ... OMIM:619074
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Conductive hearing impairment, Abnormality of the dentition, Umbi... OMIM:616331
Grubben-De Cock-Borghgraef Syndrome
Abnormality of the dentition, Partial agenesis of the corpus callosum ORPHA:2101
16P13.11 Microdeletion Syndrome
Pectus excavatum, Atresia of the external auditory canal, Wide mouth, Smooth philtrum, Abnormalit... ORPHA:261236
Vici Syndrome
Gray matter heterotopia, Cerebellar hypoplasia, Cerebral cortical atrophy, Sensorineural hearing ... ORPHA:1493
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Primary microcephaly, Microcepha... ORPHA:466688
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs, Low-set, posteriorly rotated ears, Abnormal palate morphology ORPHA:1506
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Short philtrum, Abnormality of ... ORPHA:949
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Overfolded helix, Conductive hearing impairment, High palate, ... OMIM:617412
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Microcephaly, Submucous cleft hard palate, Cleft palate ORPHA:2521
Non-Syndromic Posterior Hypospadias
Omphalocele, Esophageal atresia, Cleft palate, Anal atresia, Congenital diaphragmatic hernia ORPHA:95706
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Long philtrum, Thickened helices, Short philtrum, Interhypothalamic Adhesion, Periventricular het... OMIM:618929
Combined Oxidative Phosphorylation Deficiency 2
Low-set ears, Agenesis of corpus callosum OMIM:610498
Mucopolysaccharidosis, Type Ix
Bifid uvula, Recurrent otitis media, Submucous cleft hard palate OMIM:601492
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Polyhydramnios, Intestinal malrotation, Omphalocele, Intestinal atresia OMIM:243150
Cleft Lip/Palate
Agenesis of lateral incisor, Conductive hearing impairment, Recurrent otitis media, Oral cleft, P... ORPHA:199306
Weiss-Kruszka Syndrome
Colpocephaly, Overfolded helix, Hypoplasia of the corpus callosum, Low-set ears, Cupped ear, Hear... OMIM:618619
Baraitser-Winter Syndrome 1
Long philtrum, Pachygyria, Overfolded helix, Wide mouth, Low-set ears, Oral cleft, Thin upper lip... OMIM:243310
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Preaxial hand polydactyly, Abnormality of epiphysis morphology, Rhizomel... ORPHA:3098
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Macroglossia, Type II lissenceph... ORPHA:370959
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Foxg1 Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Excessive salivation, Abnormal corpus callosum mor... ORPHA:561854
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Enamel hypoplasia, Oligodontia, Conductive hearing impairment... ORPHA:557003
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Posterior rib fusion, Spina bifida occulta, Cleft palate, Abnormality of the ribs, ... ORPHA:1797
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Macrotia, Cerebellar hypoplasia, Hydranencephaly, Microc... OMIM:605013
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Hypoplasia of the brainstem, Diffuse axonal swelling, Pachygyria, Neuronal loss in the cerebral c... ORPHA:86822
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Conductive hearing impairment, Low-set ears, Posteriorly rotated ears,... ORPHA:2780
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Umbilical hernia, Inguinal hernia, Edema OMIM:600972
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy, Cleft palate OMIM:614924
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Microcephaly, Cleft palate ORPHA:506353
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Diastasis recti, Omphalocele, Umbilical hernia ORPHA:254534
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Open mouth, Dental crowding, Abnormally folded helix, Pectus excavatum, Deep phil... OMIM:309520
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the dentition, Abnormality of the out... OMIM:182290
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Facial palsy, Peripheral axonal neuropathy, Agenesis of corpus callosum OMIM:600638
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Oral cleft, Anal atresia, Septo-optic dysplasia, Abnormality of the ribs, Optic atr... ORPHA:3301
Developmental And Epileptic Encephalopathy 89
Long philtrum, Flexion contracture, Smooth philtrum, Omphalocele, Thin upper lip vermilion, Neona... OMIM:619124
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth... OMIM:617102
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial foot polydactyly... OMIM:277170
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Macroglossia, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum... OMIM:616900
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Abnormal cerebral white matter morphology, Smooth philtrum, Abnormality ... ORPHA:576283
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Umbilical hernia, Hypodontia, Non-midline cl... ORPHA:199302
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the brainstem, Thin vermilion border, Long philtrum, Thoracic kyphoscoliosis, Globa... ORPHA:481152
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
4Q21 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Downturned corners of mouth, Cerebellar hypoplasia, Abnorm... ORPHA:238750
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Brachydactyly, Horizontal ribs, Postaxial polydactyly OMIM:615633
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Recurrent otitis media, Agenesis of corpus callosum, Decreased response to growth h... OMIM:615286
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Renpenning Syndrome
Short philtrum, Narrow mouth, Macrotia, Pectus excavatum, Sprengel anomaly, Sensorineural hearing... ORPHA:3242
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Wide mouth, Submucous cleft hard palate, Low-set ears, Dysplastic corpus ca... OMIM:619103
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Vertebral Hypersegmentation And Orofacial Anomalies
Thickened helices, Scapular winging, Pectus excavatum, Unilateral cleft lip, Darwin tubercle of h... OMIM:619122
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
High palate, Protruding ear, Broad alveolar ridges, Microcephaly, Optic atrophy, Agenesis of corp... OMIM:300004
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Abnormality of the antihelix, Excessive salivation, Everted lower lip vermilion, Sm... ORPHA:261144
Fumarase Deficiency
Hypoplasia of the brainstem, Agenesis of corpus callosum, High palate, Cerebral atrophy, Polymicr... OMIM:606812
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Agenesis of corpus callosum OMIM:250620
Desmosterolosis
Pachygyria, Abnormality of earlobe, Large earlobe, Absent septum pellucidum, Narrow mouth, Low-se... ORPHA:35107
Even-Plus Syndrome
Hypodontia, Dysplastic corpus callosum, Anal atresia, High palate, Agenesis of corpus callosum, M... OMIM:616854
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Macroglossia, Diastasis recti, Flexion contracture of finger, Open mouth, Camptod... ORPHA:254528
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Wide mouth, Microtia OMIM:251800
Femoral-Facial Syndrome
Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Sprengel anomaly, Rib fusion, Low-set e... ORPHA:1988
Camptobrachydactyly
Hand polydactyly, Congenital finger flexion contractures, Syndactyly, Short toe, Brachydactyly OMIM:114150
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Periventricular heterotopia, Abnormal cerebral ... OMIM:618476
Kapur-Toriello Syndrome
Pachygyria, Atresia of the external auditory canal, Intestinal malrotation, Low-set ears, Dysplas... ORPHA:2328
Lymphangiectasia, Intestinal
Stillbirth, Pedal edema, Edema, Intestinal lymphangiectasia, Malabsorption OMIM:152800
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Tarsal synostosis, Flared iliac wing, Synostosis of carpal... ORPHA:90652
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Optic atrophy, Dysplastic corpus callosum OMIM:252650
Teebi Hypertelorism Syndrome
Long philtrum, Natal tooth, Omphalocele, Dental crowding OMIM:145420
Marden-Walker Syndrome
Hypoplasia of the brainstem, Long philtrum, Narrow mouth, Abnormal sternum morphology, High palat... OMIM:248700
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Mosaic Trisomy 1
Polyhydramnios, Camptodactyly of finger, Wide mouth, Omphalocele, Oral cleft, Increased nuchal tr... ORPHA:1692
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Emanuel Syndrome
Dental crowding, Submucous cleft lip, High palate, Supernumerary ribs, Long philtrum, Macrotia, R... ORPHA:96170
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Bladder Exstrophy
Intestinal malrotation, Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Kennerknecht Syndrome
High palate, Malrotation of colon, Omphalocele, Hypodontia OMIM:600908
Craniosynostosis 6
Abnormal corpus callosum morphology, Microcephaly, Agenesis of corpus callosum, Dandy-Walker malf... OMIM:616602
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Oral clef... ORPHA:220497
Intellectual Developmental Disorder, Autosomal Dominant 65
Long philtrum, Short philtrum, Downturned corners of mouth, Macrotia, Dysgenesis of the hippocamp... OMIM:619320
Choanal Atresia And Lymphedema
Lymphedema, High palate, Pericardial effusion OMIM:613611
Aicardi Syndrome
Aplasia/Hypoplasia of the cerebellum, Hiatus hernia, Short philtrum, Pachygyria, Bifid ribs, Opti... ORPHA:50
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Holzgreve Syndrome
Aplasia/Hypoplasia of the corpus callosum, Macrotia, Low-set, posteriorly rotated ears, Aplasia/H... ORPHA:2167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar hypoplasia, Sensorineural hearing ... OMIM:615249
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Rib fusion, Esophageal atresia, Anteri... OMIM:206900
Fryns Syndrome
Polyhydramnios, Long philtrum, Intestinal malrotation, Wide mouth, Non-midline cleft lip, Agangli... ORPHA:2059
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Hearing impairment, Cleft upper lip, Cleft palate, Bifid uvula... OMIM:300958
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Polyhydramnios, Intestinal malrotation, Omphalocele, Umbilical hernia, Death in infancy, Microcolon ORPHA:2241
Achondrogenesis
Polyhydramnios, Long philtrum, Hydrops fetalis, Umbilical hernia, Inguinal hernia, Macrocephaly ORPHA:932
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Relative macrocephaly, Omphalocele OMIM:617895
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the optic tract, Partial agenesis of the corpus callosum, Primary microcephaly, Cer... ORPHA:500144
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypoplasia of the brainstem, Thin vermilion border, Short philtrum, Deep philtrum, Cerebellar hyp... OMIM:618622
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Undulate ribs, Missing ribs ORPHA:1801
Endocrine-Cerebroosteodysplasia
Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap, Ulnar deviation of the hand... OMIM:612651
Radio-Tartaglia Syndrome
Long philtrum, Short philtrum, Drooling, Gray matter heterotopia, Conductive hearing impairment, ... OMIM:619312
Holoprosencephaly 13, X-Linked
Agenesis of corpus callosum, Low-set ears, Solitary median maxillary central incisor, Hearing imp... OMIM:301043
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Omphalocele, Anal stenosis OMIM:248450
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Cleft palate... OMIM:612290
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Delayed eruption of teeth, Abnormality of the abdominal wall, Camptodactyly, Thic... OMIM:247200
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Fibrochondrogenesis 1
Long philtrum, Hydrops fetalis, Narrow mouth, Stillbirth, Camptodactyly, Omphalocele, Joint contr... OMIM:228520
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, Microretrognathia, 2-3 toe syndactyly, Long fi... OMIM:300960
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Anal atresia, Omphalocele OMIM:601389
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Broad philtrum, Long philtrum, Agenesis of corpus callosum OMIM:618577
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Cleft palate OMIM:153200
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Aganglionic megacolon, Microcephaly, Malabsorption, Agenesis of corpus callosum ORPHA:452
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Orofaciodigital Syndrome Iii
Tongue nodules, Pectus excavatum, Short sternum, Low-set ears, Bifid tongue, Supernumerary tooth,... OMIM:258850
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Long philtrum, Thin vermilion border, Elevated circulating luteinizing hormone level, Overfolded ... OMIM:618419
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplas... OMIM:614643
Pai Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cleft palate, Abnormal oral frenulum morphology, Bifid... ORPHA:1993
Thoracoabdominal Syndrome
Omphalocele, Cleft palate, Cleft upper lip, Congenital diaphragmatic hernia, Ventral hernia OMIM:313850
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Absent septum pellucidum, Esophageal atresia, Anterior pitu... ORPHA:3157
Duane-Radial Ray Syndrome
Small thenar eminence, Radial deviation of the hand, Hypoplasia of the radius, Preaxial polydacty... OMIM:607323
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Conductive hearing impai... ORPHA:3236
Opitz Gbbb Syndrome, Type I
Smooth philtrum, Thin upper lip vermilion, Anal atresia, Cleft upper lip, Cleft palate, High pala... OMIM:300000
Nizon-Isidor Syndrome
Thoracolumbar kyphosis, Short philtrum, Narrow mouth, Open mouth, Downturned corners of mouth, Hy... OMIM:618872
Holoprosencephaly, Recurrent Infections, And Monocytosis
Microcephaly, Abnormality of the pinna, Agenesis of corpus callosum OMIM:610680
Microcephaly-Micromelia Syndrome
Aplasia/Hypoplasia of the corpus callosum, Narrow chest, Narrow mouth, Low-set ears, Cleft palate... OMIM:251230
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Median cleft lip and palate, Natal tooth, Hamartoma of tongue, Intestinal malrota... OMIM:269860
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Unicoronal synostosis, Hypoplastic pelvis, Rhizomelia, Preaxial polydactyly,... OMIM:616300
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Aplastic clavicle, Micromelia OMIM:616546
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Macrocephaly, Oligohydramnios, Anal stenosis, Dental crowding, Pierre-Robin seque... OMIM:300373
Duplication Of The Pituitary Gland
Abnormality of the tongue, Abnormality of the pituitary gland, Abnormal hypothalamus morphology, ... ORPHA:314621
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Hearing impairment, Facial palsy, Microcephaly, Optic atrophy,... OMIM:616239
Kagami-Ogata Syndrome
Polyhydramnios, Long philtrum, Diastasis recti, Flexion contracture, Omphalocele, Inguinal hernia OMIM:608149
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Facial diplegia, Papilledema, Hearing impairment, Optic atrophy OMIM:122860
White Forelock With Malformations
Low-set, posteriorly rotated ears, Sprengel anomaly, Abnormal palate morphology, Deep philtrum, S... ORPHA:2475
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Low-set, posteriorly rotated ears,... ORPHA:137888
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Abnormality of the philtrum, Overfolded helix, Aplasia/Hypoplasia of th... ORPHA:2759
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Sprengel anomaly, Cleft upper lip, Cleft palate, Abnormality of th... OMIM:601076
Bohring-Opitz Syndrome
Hypoplasia of the brainstem, Narrow palate, Gray matter heterotopia, Hypoplasia of the corpus cal... OMIM:605039
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Cerebrocostomandibular Syndrome
Long philtrum, Porencephalic cyst, Anal stenosis, Conductive hearing impairment, Thoracic hypopla... OMIM:117650
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, High palate, Wide mouth, Short ribs, Bifid uvula, Microcephaly, Microdontia, Widely... OMIM:266920
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Temple Syndrome
Short philtrum, Recurrent otitis media, Posteriorly rotated ears, Cleft palate, Bifid uvula, High... OMIM:616222
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Short philtrum, Advanced eruption of teeth, Narrow chest, Open mouth, ... OMIM:619148
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Low-set, posteriorly rotated ears, Abnormality of neuronal ... ORPHA:2772
Caudal Duplication
Omphalocele, Intestinal duplication ORPHA:1756
Ring Chromosome 22 Syndrome
Neurofibromas, Macrotia, Absent septum pellucidum, Thick vermilion border, Protruding tongue, Mic... ORPHA:1446
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Hiatus hernia, Pachygyria, Bifid ribs, Gray matter heterot... OMIM:304050
Metatropic Dysplasia
Narrow chest, Low-set, posteriorly rotated ears, Long thorax, Cleft palate, Abnormality of the ribs ORPHA:2635
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Polyhydramnios, Cleft palate OMIM:241850
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Agenesis of corpus callosum, Downturned corners of mouth ORPHA:521308
Axial Mesodermal Dysplasia Spectrum
Oligohydramnios, Omphalocele, Anal atresia, Gingival overgrowth, Congenital diaphragmatic hernia,... ORPHA:1834
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Joubert Syndrome 18
Polydactyly, Camptodactyly OMIM:614815
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Constricting Bands, Congenital
Omphalocele, Gastroschisis, Cleft palate, Bladder exstrophy, Cleft upper lip OMIM:217100
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Oral clef... ORPHA:220493
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Facial diplegia, Drooling, Downturned corners of mouth, Hypoplasia... OMIM:619121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hypoplasia of the corpus callosum... OMIM:236670
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Thickened helices, Short philtrum, Abnormal caudate nucleus morphology, Smoo... ORPHA:293725
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Simple ear, Periventricular heterotopia, Periph... OMIM:618733
Lateral Meningocele Syndrome
Long philtrum, Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impair... OMIM:130720
Orofaciodigital Syndrome I
Enamel hypoplasia, Hypothalamic hamartoma, Carious teeth, Porencephalic cyst, Agenesis of permane... OMIM:311200
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impairment, Pectus ex... ORPHA:2789
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, Low-set, posteriorly rotated ears, Cerebral atrophy, Smooth philtrum, Thin... OMIM:611209
Brain Malformations With Or Without Urinary Tract Defects
Narrow mouth, Hypoplasia of the corpus callosum, Low-set ears, Thin upper lip vermilion, Agenesis... OMIM:613735
Holoprosencephaly 9
Prominent antihelix, Panhypopituitarism, Short philtrum, Macrotia, Agenesis of incisor, Anterior ... OMIM:610829
Donnai-Barrow Syndrome
Intestinal malrotation, Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia, Macrocephaly OMIM:222448
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Sensorineural hearing impairment, Cleft palate, Bifid uvula, High, narrow ... OMIM:604841
Mosaic Trisomy 8
Abnormality of the antihelix, Narrow chest, Macrotia, Abnormality of the pinna, Hearing impairmen... ORPHA:96061
Chromosome 9P Deletion Syndrome
Long philtrum, Narrow mouth, Omphalocele, Thin upper lip vermilion, Inguinal hernia, High palate,... OMIM:158170
Dextrocardia With Unusual Facies And Microphthalmia
Cleft palate, Supernumerary ribs, Macrotia OMIM:221950
Schilbach-Rott Syndrome
Narrow mouth, Posteriorly rotated ears, Bifid uvula, Microcephaly, Microtia, Submucous cleft hard... OMIM:164220
Sotos Syndrome 1
Cavum septum pellucidum, Narrow palate, Advanced eruption of teeth, Conductive hearing impairment... OMIM:117550
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Bardet-Biedl Syndrome 17
Polydactyly, Brachydactyly, Mesoaxial polydactyly OMIM:615994
Craniofacial Dyssynostosis With Short Stature
Abnormal location of ears, Hypoplasia of the corpus callosum, Pyloric stenosis, Agenesis of corpu... OMIM:218350
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2182
Kleefstra Syndrome 2
Bifid uvula, Microcephaly, Everted lower lip vermilion OMIM:617768
Cree Mental Retardation Syndrome
Pectus excavatum, Low-set ears, Posteriorly rotated ears, Aplasia/Hypoplasia of the ribs, Cleft s... OMIM:606851
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Microcephaly, Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal periventricular white matter morphology, Degener... ORPHA:1145
Trisomy 4P
Radial club hand, Preaxial hand polydactyly, Camptodactyly of finger ORPHA:1738
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal periventricular white matter morphology, Narrow mouth, Periventricular heterotopia, Cort... ORPHA:468631
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Absent septum pellucidum, Conductive hearing impairment... ORPHA:87
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Agenesis of permanent teeth, Downturned corners of mouth, Camptodactyly, Omphaloce... OMIM:616894
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Low-set ears, Conical tooth, Broad philtrum, Agenesis of cerebellar... ORPHA:228390
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Cerebellar hypoplasia, Low-set ears, Posteriorly rotated ears, Polym... OMIM:264480
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of dental morphology, Pectus excavatum, Low-set ears, A... ORPHA:2522
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Aplasia/Hypoplasia of the corpus callosum, ... OMIM:200990
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Conductive hearing impairment, Protruding ea... OMIM:608572
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Agenesis of corpus callosum ORPHA:1496
Cerebrofacioarticular Syndrome
Narrow mouth, Gray matter heterotopia, Conductive hearing impairment, Hypoplasia of the corpus ca... ORPHA:314679
C Syndrome
Polyhydramnios, Long philtrum, Thin vermilion border, Biparietal narrowing, Aplasia/Hypoplasia of... ORPHA:1308
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Curry-Jones Syndrome
Anal stenosis, Megalencephaly, Intestinal malrotation, Polymicrogyria, Hemimegalencephaly, Agenes... OMIM:601707
Temtamy Syndrome
Long philtrum, Hypoplasia of teeth, Dental crowding, Low-set ears, Lop ear, Agenesis of corpus ca... OMIM:218340
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Wide mouth, Oral cleft, Externa... ORPHA:1647
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Wormian bones, Preaxial hand polydactyly, Pos... OMIM:252100
C Syndrome