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Gene: Tgif1 MGI:1194497

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

TGFB-induced factor homeobox 1

Synonyms:

Tgif

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 Tgif1 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 Tgif1 (7 diseases)
Human diseases predicted to be associated with Tgif1 (853 diseases)

The table below shows human diseases associated to Tgif1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Microform Holoprosencephaly	Tented upper lip vermilion, Microcephaly, Orofacial cleft, Cleft palate, Short philtrum, Holopros...	ORPHA:280200
Holoprosencephaly 4	Semilobar holoprosencephaly, Median cleft lip, Median cleft lip and palate	OMIM:142946
Septopreoptic Holoprosencephaly	Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian polymicrogyria, Abnormal septum...	ORPHA:280195
Semilobar Holoprosencephaly	Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal ridge, Single naris, ...	ORPHA:220386
Alobar Holoprosencephaly	Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal ridge, Single naris, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal ridge, Single naris, ...	ORPHA:93926
Lobar Holoprosencephaly	Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal ridge, Single naris, ...	ORPHA:93924

The table below shows human diseases predicted to be associated to Tgif1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature	Intrauterine growth retardation, Short stature	OMIM:135950
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Deep philtrum, Orofacial ...	OMIM:609637
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Cerebral cortical atrophy, Holoprosencephaly, Microcephaly	ORPHA:2523
Microhydranencephaly, X-Linked	Holoprosencephaly, Microcephaly	OMIM:306990
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Deafness, Conductive, With Malformed External Ear	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co...	OMIM:221300
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Acalvaria	Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum	ORPHA:945
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus, Abnormality of the ear	OMIM:600257
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly, Macrocephaly	OMIM:300706
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ...	OMIM:128980
Holoprosencephaly 11	Microcephaly, Cleft lip, Cleft palate, Holoprosencephaly, Agenesis of corpus callosum	OMIM:614226
Vissers-Bodmer Syndrome	Decreased head circumference, Holoprosencephaly	OMIM:619033
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Absent septum pellucidum, Bilateral cleft lip, Cleft upper lip, Anterior ...	OMIM:601357
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Microcephaly, Hydrocephalus, Non-midline cleft lip, Meningocele, Wide nasal bridge...	ORPHA:1908
Microphthalmia, Isolated, With Coloboma 5	Holoprosencephaly, Orofacial cleft	OMIM:611638
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Lo...	ORPHA:2117
Distal Monosomy 7Q36	Microcephaly, Non-midline cleft lip, Cleft palate, Wide mouth, Holoprosencephaly	ORPHA:1636
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ...	ORPHA:90646
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Abnormal antihelix morp...	ORPHA:79113
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Holoprosencephaly-Caudal Dysgenesis Syndrome	Median cleft lip, Holoprosencephaly, Cleft palate, Microcephaly	ORPHA:2165
Pineocytoma	Hearing abnormality, Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Microcephaly, Deep philtru...	OMIM:612530
Craniodiaphyseal Dysplasia	Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Conductive hearing impairment, Stenosis...	ORPHA:1513
Branchiootic Syndrome	Branchial fistula, Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of t...	ORPHA:52429
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	EEG abnormality, Hydrocephalus, Hearing impairment	ORPHA:1008
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Ho...	ORPHA:2570
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, High palate, Short philtrum, Agenesis of corpus callosum, Ventriculomegaly	OMIM:615433
Monosomy 18P	Microcephaly, Carious teeth, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Short ...	ORPHA:1598
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Triploidy	Narrow mouth, Hydrocephalus, Meningocele, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia...	ORPHA:3376
16P13.11 Microdeletion Syndrome	Smooth philtrum, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Microcephaly...	ORPHA:261236
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Solitary Median Maxillary Central Incisor	Microcephaly, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus...	OMIM:147250
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Pneumonia, Ventriculomegaly	ORPHA:85179
Chudley-Mccullough Syndrome	Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly	OMIM:604213
Distal Deletion 13Q	Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence...	ORPHA:1590
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Multiple Synostoses Syndrome	Conductive hearing impairment	ORPHA:3237
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Macrocephaly, Ventriculomegaly	ORPHA:93274
Lambotte Syndrome	Narrow mouth, Microcephaly, Semilobar holoprosencephaly	OMIM:245552
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment	ORPHA:2669
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Holoprosencephaly 14	Median cleft lip, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microc...	OMIM:619895
Microform Holoprosencephaly	Tented upper lip vermilion, Microcephaly, Orofacial cleft, Cleft palate, Short philtrum, Holopros...	ORPHA:280200
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, H...	OMIM:610828
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Smooth philtrum, Thin upper lip vermilion, Microcephaly, Velopharyngeal insufficiency, Submucous ...	OMIM:614701
Microcephaly 29, Primary, Autosomal Recessive	Primary microcephaly, Simplified gyral pattern, Hypoplastic philtrum	OMIM:620047
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, Microcephaly, Hypoplastic philtrum, Gingival overgrowth, High palate...	OMIM:618918
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Ring Chromosome 21 Syndrome	Holoprosencephaly, Microcephaly	ORPHA:1445
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Cryptorchidism, Decreased circulating antibody level, Agammaglobulinemia,...	OMIM:616910
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, Microtia, Conductive hearing impairment	OMIM:248910
Oculopharyngodistal Myopathy 3	Elevated circulating creatine kinase concentration, Tremor, Sensorineural hearing impairment, Con...	OMIM:619473
Holoprosencephaly 4	Semilobar holoprosencephaly, Median cleft lip, Median cleft lip and palate	OMIM:142946
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Deafness, Autosomal Dominant 23	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:605192
Agnathia-Otocephaly Complex	Aglossia, Cleft palate, Holoprosencephaly, Narrow mouth, Microglossia, Agenesis of corpus callosum	OMIM:202650
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Choanal atresia, ...	ORPHA:949
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Conductive hearing impairment, Anteverted nares, Choreoathetosis, Dystonia	OMIM:618497
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Holoprosencephaly, Cleft palate	ORPHA:250999
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr...	ORPHA:3236
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Anteverted nares, Hydrocephalus, Optic atrophy, Hypsarrhythmia, Low-set ears	OMIM:300884
Holoprosencephaly 3	Microcephaly, Cleft lip, Cleft palate, Holoprosencephaly, Solitary median maxillary central incis...	OMIM:142945
Pseudotrisomy 13 Syndrome	Encephalocele, Cleft upper lip, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypopl...	OMIM:264480
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Microcephaly, Protrud...	OMIM:309580
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Treacher Collins Syndrome 4	Conductive hearing impairment, Choanal stenosis, Micrognathia	OMIM:618939
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Fried Syndrome	Hydrocephalus, Macrotia, Hearing impairment	ORPHA:85335
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Holoprosencephaly, Narrow mouth, Aplasia/Hypoplasia of the cerebellum, Microglossia, Agenesis of ...	ORPHA:990
Developmental And Epileptic Encephalopathy 63	Conductive hearing impairment, Bulbous nose, EEG with generalized epileptiform discharges	OMIM:617976
Bor Syndrome	Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ...	ORPHA:107
Retinitis Pigmentosa	Anteverted nares, Sensorineural hearing impairment, Optic atrophy, Wide nasal bridge, Hypogonadis...	ORPHA:791
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Micrognathia, Underdeveloped nasal alae, Bifid nasal tip, Microtia, Con...	ORPHA:398156
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Absent septum pellucidum, Focal polymicrogyri...	OMIM:612651
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Ciliary Dyskinesia, Primary, 38	Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Infertility, Conductive hearing imp...	OMIM:618063
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	EEG with burst suppression, Hydrocephalus	OMIM:266100
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne...	ORPHA:2549
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Frontonasal Dysplasia 1	Broad nasal tip, Hypoplasia of the maxilla, Conductive hearing impairment, Bifid nasal tip, Anter...	OMIM:136760
Congenital Hydrocephalus	Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Bulbous...	ORPHA:2185
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Alobar holoprosencephaly, Microc...	OMIM:301043
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th...	ORPHA:3145
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Conductive hearing...	OMIM:616726
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal	OMIM:221320
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Conductive hearing impa...	ORPHA:93262
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Conjunctivitis, Conduct...	ORPHA:207
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Isolated Cleft Lip	Polyhydramnios, Abnormal Eustachian tube morphology, Supernumerary maxillary incisor, Conductive ...	ORPHA:199302
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment	ORPHA:3246
Lateral Meningocele Syndrome	Posteriorly rotated ears, Abnormality of the middle ear ossicles, Micrognathia, Cryptorchidism, S...	ORPHA:2789
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly	OMIM:601370
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ...	ORPHA:52368
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:610738
Ramon Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormal dental enamel morpholog...	ORPHA:3019
Otofaciocervical Syndrome	Anteverted nares, Depressed nasal bridge, Protruding ear, Abnormal antihelix morphology, Atresia ...	ORPHA:2792
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Orofacial cleft, Spina...	ORPHA:63259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains...	OMIM:253800
Craniometaphyseal Dysplasia	Depressed nasal bridge, Facial palsy, Sensorineural hearing impairment, Wide nasal bridge, Conduc...	ORPHA:1522
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Holoprosencephaly-Craniosynostosis Syndrome	Holoprosencephaly, Microcephaly	ORPHA:2163
Holoprosencephaly 9	Optic nerve hypoplasia, Abnormal cortical gyration, Cleft upper lip, Microcephaly, Hydrocephalus,...	OMIM:610829
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Macrocephaly, Microcephaly, Hypoplastic philtrum	OMIM:616682
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Micrognathia, Underdeveloped nasal alae, Hydrocephalus, Wide nasal bridge, Low-set ears, Umbilica...	ORPHA:1516
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Halperin-Birk Syndrome	Colpocephaly, Thick vermilion border, High palate, Umbilical hernia, Agenesis of corpus callosum,...	OMIM:618651
Middle Ear Neuroendocrine Tumor	Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu...	ORPHA:100084
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Burn-Mckeown Syndrome	Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Micrognathia, Underdeveloped nasa...	OMIM:608572
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Sensorineural hearing impairment, Optic atrophy, Depress...	OMIM:618672
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, O...	ORPHA:1528
Gómez-López-Hernández Syndrome	Hydrocephalus, Anteverted nares, Low-set ears	ORPHA:1532
Hypertelorism-Microtia-Facial Clefting Syndrome	Bifid nasal tip, Microtia, Bifid nose, Atresia of the external auditory canal, Conductive hearing...	ORPHA:2213
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Conductive h...	OMIM:184460
Lateral Meningocele Syndrome	Posteriorly rotated ears, Abnormality of the middle ear ossicles, Micrognathia, Cryptorchidism, H...	OMIM:130720
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Cupped ear, ...	OMIM:616367
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Orofacial cleft, Aplasia/Hypoplasia of the corpus cal...	ORPHA:2166
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Abnormal earlobe morphology, Wide nasal bridge, Microtia, Abnor...	ORPHA:217017
Microtia	Holoprosencephaly	ORPHA:83463
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Optic atrophy, Hearing impairment	OMIM:615191
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Short mandibular rami, Microtia, Atresia of the external auditory ...	OMIM:141400
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Hamartoma of tongue, Hydrocephalus, Anencephaly, Lobulated tongue,...	OMIM:269860
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Myelomeningocele, Hydrocephalus, Optic...	ORPHA:1914
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Bilateral conductive hearing impairment, Stenosis of the externa...	OMIM:615706
Abruzzo-Erickson Syndrome	Conductive hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Macrotia	ORPHA:921
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Unilateral cryptorchidism, Micrognathia, Microtia, Atresia of the external auditory canal, Conduc...	OMIM:300946
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Aural Atresia, Congenital	Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal	OMIM:607842
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment, Depressed nasal ridge, Communicating hydrocephalus	ORPHA:1861
Primary Ciliary Dyskinesia	Male infertility, Nasal polyposis, Female infertility, Hydrocephalus, Bronchiectasis, Nasal conge...	ORPHA:244
Trisomy 18	Spina bifida, Microcephaly, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia ...	ORPHA:3380
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Steinfeld Syndrome	Holoprosencephaly, Aplasia of the nose, Bifid uvula, Median cleft lip and palate	OMIM:184705
Coffin-Siris Syndrome 6	Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Broad nasal tip, Low-set ears, Co...	OMIM:617808
Alopecia Antibody Deficiency	Conductive hearing impairment, Abnormality of dental color, Decreased circulating antibody level	ORPHA:1006
49,Xxxxy Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth, Cleft pal...	ORPHA:96264
Oculoskeletodental Syndrome	Depressed nasal bridge, Sensorineural hearing impairment, Wide nasal bridge, Retrognathia, Conduc...	ORPHA:557003
Joubert Syndrome 15	Exencephaly	OMIM:614464
Ciliary Dyskinesia, Primary, 1	Male infertility, Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent outer dynein ar...	OMIM:244400
Hartsfield Syndrome	Median cleft lip, Alobar holoprosencephaly, Cleft upper lip, Microcephaly, Cleft palate, Lobar ho...	OMIM:615465
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Atresia of the external auditory canal, Cond...	ORPHA:1488
Anencephaly 2	Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Anteverted nares, Carious teeth, Cryptorchidism, Hydrocephalus...	ORPHA:2701
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Chronic active hepatiti...	OMIM:240300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Narrow nasal bridge, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of t...	ORPHA:3082
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Cryptorchidism, Sensorin...	ORPHA:1131
Johnson Neuroectodermal Syndrome	Facial palsy, Choanal atresia, Carious teeth, Bulbous nose, Anosmia, Protruding ear, Microtia, Hy...	ORPHA:2316
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment	OMIM:132450
Familial Expansile Osteolysis	Conductive hearing impairment	OMIM:174810
Klippel-Feil Syndrome 2, Autosomal Recessive	Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology	OMIM:214300
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Holoprosencephaly	Encephalocele, Median cleft lip, Bilateral cleft lip, Microcephaly, Hydrocephalus, Deep philtrum,...	ORPHA:2162
Congenital Toxoplasmosis	Hydrocephalus, Ascites, Ventriculomegaly, Hearing impairment	ORPHA:858
Pancreatic Agenesis-Holoprosencephaly Syndrome	High palate, Holoprosencephaly, Solitary median maxillary central incisor, Agenesis of corpus cal...	ORPHA:556955
6P22 Microdeletion Syndrome	Overfolded helix, Hydrocephalus, Low-set ears, Hearing impairment	ORPHA:251046
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia, Hypoplasia of the zygomatic bone, Micrognathia	OMIM:248390
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Cleft Velum	Recurrent otitis media, Conductive hearing impairment, Hypoplasia of the maxilla, Aspiration pneu...	ORPHA:99772
Tenosynovial Giant Cell Tumor	Abnormality of the tympanic membrane, Lymphedema, Abnormality of the auditory canal, Joint swelli...	ORPHA:66627
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, High palate, Hypoplasia of the c...	OMIM:618500
Aicardi-Goutieres Syndrome 4	Hydrocephalus, CSF lymphocytic pleiocytosis, Low-set ears, Dystonia, Convex nasal ridge, Ventricu...	OMIM:610333
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft lip, Microcephaly, Orofacial cleft, Holoprosencephaly, Aplasia of the nose	ORPHA:3186
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Diencephalic Syndrome	Hydrocephalus, Macrotia, Optic atrophy	ORPHA:1672
Usher Syndrome, Type Ig	Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone	OMIM:606943
Blepharo-Cheilo-Odontic Syndrome	Conductive hearing impairment, Carious teeth	ORPHA:1997
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Hydrocephalus, Microtia, ...	ORPHA:171839
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Micrognathia, Microtia, Atresia of the external auditory canal, Bifid nose, Cond...	OMIM:239800
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear	OMIM:618302
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,...	OMIM:109120
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Ring Chromosome 7 Syndrome	Microcephaly, Wide nasal bridge, Cleft palate, Bifid uvula, Thin vermilion border, Short philtrum...	ORPHA:1449
Trichorhinophalangeal Syndrome Type 2	Low-set, posteriorly rotated ears, Supernumerary tooth, Bulbous nose, Wide nasal bridge, Protrudi...	ORPHA:502
Papillary Tumor Of The Pineal Region	Hearing abnormality, Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud...	OMIM:113650
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Cryptorchidism, Hydrocephalus,...	ORPHA:85284
Krabbe Disease	Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, EEG abnormality, Increased CSF...	OMIM:245200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Hand tremor	ORPHA:99947
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Absent septum pellucidum, Deep philtrum, Everted lower lip vermilion, H...	OMIM:613884
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Short philtrum, Hypoplasia of the corpus callosum, Short nose, Cerebr...	ORPHA:85277
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Wide nasal bridge, Cleft pala...	OMIM:615716
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Kbg Syndrome	Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchidism, EEG abnormal...	ORPHA:2332
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Micrognathia, Cupped ear, Microtia, Conductive hearing impairm...	ORPHA:246
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus	ORPHA:73256
Jacobsen Syndrome	U-Shaped upper lip vermilion, Microcephaly, Hydrocephalus, Holoprosencephaly, Macrocephaly, Short...	OMIM:147791
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Conductive hearing impairment, Atresia of the external auditory canal	OMIM:133705
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop...	OMIM:618820
Developmental And Epileptic Encephalopathy 49	Tented upper lip vermilion, Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, D...	OMIM:617281
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ventricle, Mi...	ORPHA:2356
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment, Azoospermia, Micrognathia	OMIM:601076
Holoprosencephaly 1	Alobar holoprosencephaly, Microcephaly, Aplasia of the nose, Cerebellar hypoplasia, Ethmocephaly,...	OMIM:236100
Intellectual Developmental Disorder, Autosomal Dominant 65	Thick upper lip vermilion, Tented upper lip vermilion, Noncommunicating hydrocephalus, Wide nasal...	OMIM:619320
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Abnormality of dental eruption, Dental ma...	ORPHA:199306
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Retrognathia, Low-set ea...	ORPHA:163961
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Open ...	OMIM:616362
Osteopetrosis, Autosomal Dominant 1	Conductive hearing impairment, Mandibular pain	OMIM:607634
Trisomy 8P	Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus...	ORPHA:264450
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Broad nas...	OMIM:620157
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Depressed nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Periorb...	OMIM:235510
Phaver Syndrome	Posteriorly rotated ears, Depressed nasal bridge, Myelomeningocele, Aplasia/Hypoplasia of the ear...	ORPHA:2876
Radio-Tartaglia Syndrome	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Tremor, Bulbous n...	OMIM:619312
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Keratitis, Hydrocephalus, Optic atrophy, Conjun...	OMIM:123500
Rabin-Pappas Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Broad nasal tip, Sensorineural heari...	OMIM:620155
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Larsen-Like Syndrome	Dental malocclusion, Absent nasal bridge, Recurrent otitis media, Low-set ears, Conductive hearin...	OMIM:608545
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Cleft palate, Non-midline cleft lip, Anencephaly, Spina bifida	ORPHA:2476
Holoprosencephaly 2	Alobar holoprosencephaly, Microcephaly, Submucous cleft hard palate, Bilateral cleft lip and pala...	OMIM:157170
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Depressed nasal bridge, Hydrocephalus, Wide nasal br...	OMIM:220220
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, Sensorineural hearing impairment, Supern...	ORPHA:2980
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Posteriorly rotated ears, Anterior open-bite malocclusion, Low-set ears, Conduc...	OMIM:617877
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation, Tented upper lip vermilion, Long philtrum	OMIM:619972
Non-Functioning Paraganglioma	Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Conductive hearing imp...	ORPHA:94080
Thanatophoric Dysplasia	Depressed nasal bridge, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Low-set ear...	ORPHA:2655
Robinow Syndrome, Autosomal Dominant 2	Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism,...	OMIM:616331
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Depressed nasal bridge, Prominent nose, Tremor, Cryptorchidism, Sensorineu...	OMIM:601808
Pallister-Hall Syndrome	Natal tooth, Cleft upper lip, Microglossia, Cleft palate, Holoprosencephaly, Neonatal death, Shor...	OMIM:146510
Arachnoiditis	Hydrocephalus, Tinnitus, Hearing impairment	ORPHA:137817
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Saethre-Chotzen Syndrome	Depressed nasal bridge, Prominent nasal bridge, Prominent crus of helix, Cryptorchidism, External...	ORPHA:794
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Microretrognathia, Prominent nasal bridge, Hypoplasia of the m...	ORPHA:1307
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Optic atrophy, Conductive hearing impairment, Short nose, Retr...	ORPHA:561
Smith-Magenis Syndrome	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Delayed eruption of primary teet...	ORPHA:819
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona...	OMIM:600501
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:563612
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Hamartoma of tongue, Microcep...	OMIM:615948
Schisis Association	Encephalocele, Spina bifida, Microcephaly, Anencephaly, Cleft palate, Unilateral cleft lip	ORPHA:63862
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Hydrocephalus, Vertigo, Severe sensorineural hearin...	OMIM:614195
Albers-Schönberg Osteopetrosis	Osteomyelitis, Facial palsy, Carious teeth, Mandibular osteomyelitis, Hydrocephalus, Osteoarthrit...	ORPHA:53
Symphalangism, Proximal, 1A	Conductive hearing impairment, Stapes ankylosis	OMIM:185800
Adams-Oliver Syndrome 2	Depressed nasal bridge, Micrognathia, Hydrocephalus, Bulbous nose, Optic atrophy, Protruding ear,...	OMIM:614219
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Micrognathia, Bilateral conductive hearing impairment, Low-s...	OMIM:617802
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Tented upper lip vermilion, Exaggerated cupid's bow, Dysplastic cor...	OMIM:616900
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Macrotia	OMIM:300886
Temple Syndrome	Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryp...	OMIM:616222
Fryns Microphthalmia Syndrome	Neural tube defect, Bilateral cleft lip and palate	OMIM:600776
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin...	OMIM:118100
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Cortical Dysplasia, Complex, With Other Brain Malformations 9	EEG abnormality, Hydrocephalus, Optic atrophy, Hypsarrhythmia	OMIM:618174
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg...	ORPHA:2180
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Optic atrophy	OMIM:619470
Emanuel Syndrome	Broad jaw, Chronic oral candidiasis, Ventriculomegaly, Torticollis, Delayed eruption of primary t...	OMIM:609029
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Hydrocephalus, Short nose, Macrotia	OMIM:300558
Cardiospondylocarpofacial Syndrome	Conductive hearing impairment, Failure of eruption of permanent teeth	ORPHA:3238
Sotos Syndrome	Mandibular prognathia, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Broad ...	OMIM:117550
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ...	OMIM:612290
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
B4Galt1-Cdg	Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Edema, ...	ORPHA:79332
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Wide nasal bridge, Macrogyria, Lissenceph...	ORPHA:2211
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Anteverted nares, External ear malformation, Cryptorchidism, Sensorineural h...	ORPHA:254346
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Wide nasal bridg...	OMIM:601499
Mucopolysaccharidosis Type 3	Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Adenoiditis,...	ORPHA:581
Williams-Beuren Region Duplication Syndrome	Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, Chronic otitis media, Overfolded he...	OMIM:609757
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Hydrocephalus, Deep philtrum, ...	OMIM:619833
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Large earlobe, Hydrocephalus, Depressed nasal bridge, Ventriculomegaly	OMIM:602501
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea...	OMIM:608257
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Microcephaly, Supernumerary tooth,...	ORPHA:818
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Depressed nasal bridge, Abnormal auditory evoked potentials, Sensorineural hea...	OMIM:619260
Mogs-Cdg	Absent brainstem auditory responses, Generalized edema, Pulmonary edema, Wide nose, Edema, Polyhy...	ORPHA:79330
Brachycephaly, Trichomegaly, And Developmental Delay	Depressed nasal bridge, Supernumerary tooth, Low-set ears, Conductive hearing impairment, Overfol...	OMIM:617412
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Polyhydramnios, Abnormal auditory evoked potentials, Underdeveloped nasal ...	OMIM:193700
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Spinal dysraphism...	ORPHA:1926
Mosaic Variegated Aneuploidy Syndrome	Microcephaly, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Aplasia...	ORPHA:1052
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Monosomy 13Q14	Holoprosencephaly, Wide nasal bridge, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:1587
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Mixed hearing impairment, Abnormal nasopharynx morphology, Facial palsy, O...	OMIM:218400
Waardenburg Syndrome	Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Myelomeningocele, Wide ...	ORPHA:3440
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Abnormal nasal morphology, Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Mi...	ORPHA:2878
Developmental And Epileptic Encephalopathy 65	Cerebral atrophy, Tented upper lip vermilion, Ventriculomegaly, Microcephaly	OMIM:618008
Down Syndrome	Aganglionic megacolon, Depressed nasal bridge, Depressed nasal ridge, Decreased fertility, Round ...	ORPHA:870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Congenital Disorder Of Glycosylation, Type Iig	Posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Late...	OMIM:611209
Otofaciocervical Syndrome 1	Mixed hearing impairment, Hypoplasia of the cochlea, Cupped ear, Conductive hearing impairment, N...	OMIM:166780
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Micrognathia, Microtia, Atresia of the external auditory canal...	OMIM:610536
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Bilateral conductive hearing impairment, Atresia of the external auditory canal	ORPHA:2010
Carpenter Syndrome 1	Abnormal pinna morphology, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Crypt...	OMIM:201000
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Thin upper lip vermilion, Dental crowding, Microcephaly, Cleft palate, Downturned corners of mout...	OMIM:301044
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Bilateral conductive hearing impairment	OMIM:216300
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl...	ORPHA:87
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:250994
Hydrolethalus	Low-set, posteriorly rotated ears, Polyhydramnios, Micrognathia, Cryptorchidism, Hydrocephalus, A...	ORPHA:2189
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Low-set ears, Short nose	ORPHA:1895
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Simp...	OMIM:619244
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, Wide nasal bridg...	ORPHA:2780
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpu...	OMIM:619517
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Cryptorchidism, Sensorineural hearing impairment, Hydrocephalus, Umbilical hern...	OMIM:612938
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Gorlin-Chaudhry-Moss Syndrome	Conductive hearing impairment, Umbilical hernia, Hypoplasia of the maxilla, Aplasia/Hypoplasia of...	ORPHA:2095
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Agenesis of cerebellar v...	OMIM:614424
Distal Deletion 19P	Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, D...	ORPHA:96129
Proximal 16P11.2 Microdeletion Syndrome	Micrognathia, Sensorineural hearing impairment, Choreoathetosis, Dystonia, Conductive hearing imp...	ORPHA:261197
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Fusion of middle ear ossicles, Anotia, Microtia...	OMIM:613717
Meckel Syndrome 14	Occipital encephalocele, Holoprosencephaly	OMIM:619879
Microcephaly 3, Primary, Autosomal Recessive	Mixed hearing impairment, Prominent nose, Sensorineural hearing impairment	OMIM:604804
Peho Syndrome	Palpebral edema, Anteverted nares, External ear malformation, Hydrocephalus, Optic atrophy, Pedal...	ORPHA:2836
Pettigrew Syndrome	Mandibular prognathia, Ventriculomegaly, Prominent nose, Aqueductal stenosis, Sensorineural heari...	OMIM:304340
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, Cryptorchidism, Atresia of the external auditory canal, Conductive hearing impairme...	OMIM:602471
Meckel Syndrome	Encephalocele, Aplasia/Hypoplasia of the tongue, Microcephaly, Hydrocephalus, Anencephaly, Cleft ...	ORPHA:564
Hennekam-Beemer Syndrome	Wide nose, Pneumonia, Micrognathia, Long nose, Optic atrophy, Wide nasal bridge, Microtia, Conduc...	ORPHA:2135
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Posteriorly rotated ears, Anteverted nares, Micrognathia, Hypoplasia...	ORPHA:2462
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Ventriculomegaly, Micrognathia, Cryptorchidism, Hydrocephal...	ORPHA:96170
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Meier-Gorlin Syndrome 6	Microretrognathia, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Underdevel...	OMIM:616835
Stickler Syndrome, Type I	Anteverted nares, Depressed nasal bridge, Micrognathia, Sensorineural hearing impairment, Osteoar...	OMIM:108300
2Q37 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Eczema, Underdeveloped nasal alae, Conductive hearing i...	ORPHA:1001
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked...	ORPHA:99027
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Microcephaly, Lateral ventricle dilatation, High palate, Short philtr...	OMIM:614105
Kniest Dysplasia	Conductive hearing impairment, Umbilical hernia, Depressed nasal bridge, Recurrent otitis media	OMIM:156550
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Posteriorly rotated ears, Optic nerve hypoplasia, Anteverted nar...	OMIM:605627
Mohr Syndrome	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Hydrocephalus, ...	OMIM:252100
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Multiple Pterygium-Malignant Hyperthermia Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Polyhydramnios, Cryptorchidism, Abnormal mandib...	ORPHA:2215
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Microcephaly, Hydrocephalus, Partial agenesis of the c...	OMIM:270400
Proboscis Lateralis	Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, Long philtrum, High palate, Holopros...	ORPHA:141099
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Trisomy 1Q	Microretrognathia, Wide nose, Depressed nasal bridge, Polyhydramnios, Cryptorchidism, Increased n...	ORPHA:261344
Cerebrofacioarticular Syndrome	Micrognathia, Lymphedema, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Wide nas...	ORPHA:314679
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Sensorineural hearing impair...	OMIM:615816
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Choanal atresia, Micrognathia, Microtia, Atresia of the external audito...	OMIM:613309
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Polyhydramnios, Micrognathia, Choanal stenosis, Severe sensorineural hearing impa...	OMIM:620186
Isotretinoin Embryopathy-Like Syndrome	Anotia, Hydrocephalus, Microtia	OMIM:243440
Shprintzen-Goldberg Craniosynostosis Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Micrognathia, Hypoplasia o...	OMIM:182212
Pgm3-Cdg	Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Osteomyelitis, Al...	ORPHA:443811
Congenital Sialidosis Type 2	Edema, Hydrocephalus, Optic atrophy, Low-set ears, Umbilical hernia, Ascites, Hearing impairment	ORPHA:93400
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Dystonia	OMIM:619302
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Anteverted nares, Depressed nasal bridge, Choanal atresia, Cryptorchidism, Hearing abnormality, A...	ORPHA:1555
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Wide nasal bridge, Conjunctivitis, Atresia of the external auditory ca...	OMIM:106260
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short nose, Ven...	OMIM:618577
Optic Pathway Glioma	Papilledema, Vertigo, Optic atrophy, Hydrocephalus	ORPHA:2086
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Choanal atresia, Prominent nasal bridge, Bilateral cryptorchidism, Sens...	OMIM:300472
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Hydrocephalus, Wide nasal ...	OMIM:239300
Fibrodysplasia Ossificans Progressiva	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:135100
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Heterotaxy	OMIM:613807
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Posteriorly rotated ears, Anteverted nares, Edema, Micrognathia, Pericardial ef...	OMIM:617822
Codas Syndrome	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Cryptorchidi...	OMIM:600373
Oculodentodigital Dysplasia	Mandibular prognathia, Narrow nasal bridge, Anteverted nares, Abnormal dental enamel morphology, ...	ORPHA:2710
Achondroplasia	Depressed nasal bridge, Polyhydramnios, Hydrocephalus, Choanal stenosis, Recurrent otitis media, ...	OMIM:100800
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:380
Autosomal Recessive Multiple Pterygium Syndrome	Micrognathia, Cryptorchidism, Hearing abnormality, Hypogonadism, Low-set ears, Conductive hearing...	ORPHA:2990
Congenital Disorder Of Glycosylation, Type Iit	Conductive hearing impairment, Posteriorly rotated ears, Prominent nasal bridge, Low-set ears	OMIM:618885
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Congenital sensorineural hearing impairment, Mixed hearing impairment	ORPHA:2698
Van Maldergem Syndrome 2	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Sensorineural he...	OMIM:615546
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Polyhydramnios, Hydrocephalus, W...	OMIM:613603
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Palpebral edema, Depressed nasal bridge, Severe periodontitis, Keratitis, ...	ORPHA:99843
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:304100
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Hydrocephalus, Depressed nasal bridge	ORPHA:2635
Monosomy 18Q	Mandibular prognathia, Depressed nasal bridge, Prominent nose, Bilateral cryptorchidism, Sensorin...	ORPHA:1600
Congenital Muscular Dystrophy, Fukuyama Type	EEG abnormality, Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:272
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Abnormal pinna morphology, Absent tragus, Choanal atresia, Cryptor...	OMIM:603457
Kapur-Toriello Syndrome	Cryptorchidism, Bulbous nose, Low-set ears, Conductive hearing impairment, Low hanging columella	OMIM:244300
Hennekam Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Lymphedema, External ear malformation, Pericar...	ORPHA:2136
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Mixed hearing impairment, Facial palsy, Nasal congestion, Bony paranasal b...	OMIM:123000
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Skin rash, Abnormal auditory evoked potentials	OMIM:617523
Pontocerebellar Hypoplasia, Type 7	Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, Optic atrophy, Wide nasal bridge, O...	OMIM:614969
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Delayed eruption of primary teeth, Tr...	ORPHA:90321
Achondroplasia	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Functional abnormality of the middle ear...	ORPHA:15
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Optic atrophy, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF...	OMIM:616034
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Posteriorly rotated ears, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Cryptorch...	OMIM:619951
Rhyns Syndrome	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:602152
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Fraser Syndrome 3	Wide nose, Nonimmune hydrops fetalis, Micrognathia, Hydrocephalus, Oligohydramnios, Stillbirth, L...	OMIM:617667
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Depressed nasal bridge, Micrognathia, Hydrocephalus, Tubulointerstitial nephritis, Low-set ears, ...	ORPHA:459061
Frontorhiny	Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Midline nasal groove...	ORPHA:391474
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Spina bifida, Cleft upper lip, Meningocele, Wide nasal bridge, Cleft ...	ORPHA:894
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Tremor, EEG ...	ORPHA:206443
Osteogenesis Imperfecta, Type Xvi	Conductive hearing impairment, Microretrognathia, Hearing impairment	OMIM:616229
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Ventriculom...	ORPHA:1860
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen...	OMIM:606164
Charge Syndrome	Delayed eruption of teeth, Microcephaly, Aqueductal stenosis, Cleft upper lip, Abnormal soft pala...	ORPHA:138
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:2181
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Lowry-Maclean Syndrome	Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Bilateral c...	ORPHA:2409
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Renpenning Syndrome	Heterotaxy	ORPHA:3242
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Polyhydramnios, Cryptorchidism, Hydroc...	ORPHA:1812
Pheochromocytoma/Paraganglioma Syndrome 1	Conductive hearing impairment, Pulsatile tinnitus	OMIM:168000
Cockayne Syndrome A	Mandibular prognathia, Slender nose, Abnormal pinna morphology, Abnormal auditory evoked potentia...	OMIM:216400
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocep...	OMIM:615219
Infantile Sialic Acid Storage Disease	Hydrocephalus, Ascites, Anteverted nares, Hydrops fetalis	OMIM:269920
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Communicating hydrocephalus, Micrognathia, Cryptorchidism, Bul...	ORPHA:1237
Multiple Sulfatase Deficiency	Anteverted nares, Periorbital edema, Hydrocephalus, Increased CSF protein concentration, Ventricu...	OMIM:272200
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Broad nasal tip, Wide nasal bridge,...	ORPHA:1297
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hydrocephalus, Abnormal location of ears, Ventriculomegaly	OMIM:218350
Multiple Synostoses Syndrome 1	Stapes ankylosis, Underdeveloped nasal alae, Wide nasal bridge, Progressive conductive hearing im...	OMIM:186500
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Wide nasal bridge, Umbilical hernia, Ventriculomegaly	OMIM:175700
Fanconi Anemia, Complementation Group I	Conductive hearing impairment, Colpocephaly, Optic nerve hypoplasia	OMIM:609053
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Choanal atresia, Micrognathi...	ORPHA:861
Multiple Sulfatase Deficiency	Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Hydrocephalus, Optic ...	ORPHA:585
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Depressed nasal bridge, Hydrocephalus, Irregular menstruation, Neonatal death, Recurrent otitis m...	OMIM:616482
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Cerebral calcification, Hydrocephalus, Cerebellar hypoplasia, Macroce...	OMIM:618476
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Conductive hearing imp...	ORPHA:276621
Aase-Smith Syndrome I	Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation	OMIM:147800
Central Precocious Puberty In Male	Hydrocephalus, Acne, Abnormality of the testis size	ORPHA:649929
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Short nose, Depressed nasal ridge, Low-set ears	OMIM:300863
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Posteriorly rotated ears, Facial palsy, Polyhydramnios, Micrognathia, Hydrocephalus,...	OMIM:300373
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad...	OMIM:101800
Oculocerebrocutaneous Syndrome	Ventriculomegaly, External ear malformation, Cryptorchidism, Hydrocephalus, Dandy-Walker malforma...	ORPHA:1647
Chromosome 6Pter-P24 Deletion Syndrome	Posteriorly rotated ears, Depressed nasal bridge, Sensorineural hearing impairment, Hydrocephalus...	OMIM:612582
Fg Syndrome Type 1	Optic nerve hypoplasia, Choanal atresia, Micrognathia, Prominent nose, Cryptorchidism, Sensorineu...	ORPHA:93932
Postaxial Acrofacial Dysostosis	Choanal atresia, Micrognathia, Cryptorchidism, Cupped ear, Low-set ears, Conductive hearing impai...	OMIM:263750
Distal Triplication 15Q	Micrognathia, Sensorineural hearing impairment, Cupped ear, Hydrocephalus, Hydrocele testis, Micr...	ORPHA:314588
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Van Maldergem Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Dental malocclusion, W...	OMIM:601390
Trisomy 17P	Wide nose, Micrognathia, Prominent nose, Hydrocephalus, Low-set ears, Thick nasal alae, Hearing i...	ORPHA:261290
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Irregular dentition, Delayed eruption of teeth, Tented upper lip vermilion, Microc...	OMIM:619148
Cerebrocostomandibular Syndrome	Spina bifida, Micrognathia, Conductive hearing impairment, Myelomeningocele, Meningocele, Atresia...	ORPHA:1393
Giant Cell Arteritis	Pericarditis, Epistaxis, Recurrent pharyngitis, Vertigo, Optic atrophy, Arthritis, Conductive hea...	ORPHA:397
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Facial palsy, Carious teeth, Hydrocephalus, Optic atrophy, Facial paralysis, Heari...	OMIM:259700
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Hydrocephalus, Depressed nasal ridge, Low-set ears, Short nose	ORPHA:163966
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Lo...	OMIM:608624
Icf Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Micrognathia, Decreased circulating antibody...	ORPHA:2268
Marshall-Smith Syndrome	Bilateral cryptorchidism, Choanal stenosis, Aspiration pneumonia, Recurrent aspiration pneumonia,...	OMIM:602535
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Tremor, Hydroceph...	ORPHA:475
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchid...	ORPHA:2754
Biemond Syndrome Type 2	Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:141333
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Micrognathia, Hydrocephalus, Low-set ears, Dandy-Walker malformation	OMIM:220210
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Otopalatodigital Syndrome, Type I	Conductive hearing impairment, Short nose, Multiple impacted teeth, Wide nasal bridge	OMIM:311300
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Aganglionic megacolon, Anteverted nares, Promin...	ORPHA:220497
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Micrognathia, Sensorineural h...	OMIM:215150
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Hydrops fet...	ORPHA:1865
Hajdu-Cheney Syndrome	Wide nose, Anteverted nares, Micrognathia, Cryptorchidism, Hydrocephalus, Dental malocclusion, La...	OMIM:102500
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Microcephaly, Cleft upper lip, Carious teeth, ...	OMIM:129900
Fanconi Anemia, Complementation Group F	Pneumonia, Polyhydramnios, Cryptorchidism, Microtia, Conductive hearing impairment	OMIM:603467
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Cari...	OMIM:164200
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Holoprosencephaly, Agene...	ORPHA:95494
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Aplasia/Hypoplasia involving the nose, Polyhydramnios, Micrognathia, Crypt...	ORPHA:3301
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Hydrocephalus, Colpocephaly, Low-set ears, Retrognathia, Ventriculomegaly	OMIM:620156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Sensorineural hearing impairment, Elevated circulating creatine kinase concentration	OMIM:615249
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Hydrocephalus, Recurrent pneumonia, Recurrent otitis medi...	OMIM:309900
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Sensorineural hearing impairme...	ORPHA:466943
Tetrasomy 15Q26	Microretrognathia, Hydrocephalus, Cupped ear, Low-set ears, Dandy-Walker malformation	OMIM:614846
Raine Syndrome	Mandibular prognathia, Natal tooth, Mixed hearing impairment, Abnormal pinna morphology, Posterio...	OMIM:259775
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, H...	ORPHA:2437
Larsen Syndrome	Conductive hearing impairment, Cryptorchidism, Depressed nasal bridge	ORPHA:503
Vacterl With Hydrocephalus	Microtia, third degree, Spina bifida, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Hydroc...	ORPHA:3412
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism	ORPHA:2183
Coccidioidomycosis	Increased circulating IgG level, Morbilliform rash, Abnormal sperm morphology, Hypoglycorrhachia,...	ORPHA:228123
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy	OMIM:616881
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Hypoalbuminemia, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Hypoalbuminemia, Abnormal auditory evoked potentials	ORPHA:529799
Hemangioblastoma	Vertigo, Hydrocephalus	ORPHA:252054
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Chromosome 17P13.1 Deletion Syndrome	Posteriorly rotated ears, Anteverted nares, Spina bifida, Depressed nasal bridge, Prominent nasal...	OMIM:613776
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal Eustachian tube morphology, Recu...	ORPHA:513456
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating creatine kinase concentration, Hydrocephalus, Decreased specific anti-polysa...	OMIM:614576
Myopathy, Centronuclear, X-Linked	Facial palsy, Polyhydramnios, Cryptorchidism, Hydrocephalus, Dental malocclusion, Dandy-Walker ma...	OMIM:310400
Trisomy 10P	Posteriorly rotated ears, Anteverted nares, Abnormal auditory evoked potentials, Micrognathia, De...	ORPHA:171929
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Mixed hearing impairment, Recurrent pneumonia	OMIM:620012
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
H Syndrome	Psoriasiform dermatitis, Recurrent pharyngitis, Hydrocephalus, Amenorrhea, Bronchiectasis, Upper ...	ORPHA:168569
Muenke Syndrome	Sensorineural hearing impairment, Hydrocephalus	ORPHA:53271
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Mixed hearing impairment, Carious teeth, Cupped ear, Dental malocclusion, Wide...	OMIM:615560
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Mixed hearing impairment	OMIM:126550
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Conductive hearing impairment, Stenosis of the external auditory canal, Microtia	OMIM:171480
47,Xyy Syndrome	Male infertility, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Low-set ears, Macr...	ORPHA:8
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge	ORPHA:83473
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Microretrognathia, Septo-optic dysplasia, Aganglionic megacolo...	ORPHA:59315
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Aganglionic megacolon, Anteverted nares, Promin...	ORPHA:220493
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Mixed hearing impairment, Depressed nasal bridge, Polyhydramnios, Micr...	OMIM:300990
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Increased CSF protein concentration, Erectile dys...	ORPHA:206448
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Narrow nose, Underdeveloped nasal alae, Joint swelling, Atresia of the ...	OMIM:618175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Facial palsy	OMIM:613155
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, EEG abnormality, Y...	ORPHA:1946
Fraser Syndrome 1	Encephalocele, Wide nose, Cleft ala nasi, Abnormal pinna morphology, Depressed nasal bridge, Unde...	OMIM:219000
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Hydrops fetalis, Anotia, Microtia, Atresia of the external auditory ...	ORPHA:268249
22Q11.2 Deletion Syndrome	Polyhydramnios, Micrognathia, Conductive hearing impairment, Chronic otitis media, Small earlobe,...	ORPHA:567
Cockayne Syndrome B	Mandibular prognathia, Slender nose, Abnormal pinna morphology, Prominent nasal bridge, Abnormal ...	OMIM:133540
Dural Sinus Malformation	Papilledema, Pulsatile tinnitus, Myelopathy, Hydrocephalus, Ear pain, Cerebral edema	ORPHA:97339
Congenital Myopathy 13	Micrognathia, Cryptorchidism, Low-set ears, Conductive hearing impairment, Ventriculomegaly	OMIM:255995
Gorlin Syndrome	Mandibular prognathia, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchidism, Hydrocephalu...	ORPHA:377
Orofaciodigital Syndrome Type 4	Decreased testicular size, Wide nose, Microtia, third degree, Monorchism, Posteriorly rotated ear...	ORPHA:2753
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Underdeveloped nasal alae, Hypoplasia of the maxilla, Conducti...	ORPHA:306542
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc...	ORPHA:91348
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Orofaciodigital Syndrome Vi	Posteriorly rotated ears, Micrognathia, Broad nasal tip, Low-set ears, Conductive hearing impairm...	OMIM:277170
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Hydrocephalus, Hydrops fetalis, Oligohydramnios	ORPHA:163596
Kabuki Syndrome	Cryptorchidism, Sensorineural hearing impairment, Hydrocephalus, Protruding ear, EEG abnormality,...	ORPHA:2322
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Mixed hearing impairment, Polyhydramnios, Conduc...	OMIM:614557
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Micrognathia, Cryptorchidism, Dental malocclusion, Hydr...	OMIM:265000
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Mucopolysaccharidosis Type 1	Sinusitis, Depressed nasal bridge, Abnormal nasal morphology, Sensorineural hearing impairment, H...	ORPHA:579
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly, Hearing impairment	ORPHA:2169
Hereditary Pheochromocytoma-Paraganglioma	Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Conductive hearing imp...	ORPHA:29072
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Anteverted nares, Abnormal in...	OMIM:122470
Griscelli Syndrome	Encephalocele, Hydrocephalus, Hepatitis, Pedal edema, Decreased circulating antibody level, Ascites	ORPHA:381
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Aganglionic megacolon, Anteverted nares, Promin...	ORPHA:2318
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, ...	OMIM:257300
Walker-Warburg Syndrome	Ventriculomegaly, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Optic atrophy, Protrud...	ORPHA:899
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Conductive hearing impairment, Short nose	ORPHA:1225
Acrofacial Dysostosis 1, Nager Type	Posteriorly rotated ears, Aganglionic megacolon, Prominent nasal bridge, Micrognathia, Aqueductal...	OMIM:154400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal pinna morphology, Choanal atresia, Depressed nasal bridge, Cryptorchidism, Hydrocephalus...	ORPHA:95699
Hurler Syndrome	Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Recu...	OMIM:607014
3C Syndrome	Ventriculomegaly, Depressed nasal bridge, Micrognathia, Hydrocephalus, Optic atrophy, Wide nasal ...	ORPHA:7
Deafness, Autosomal Recessive 88	Mixed hearing impairment	OMIM:615429
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Otosclerosis, Papilledema, Wide nose, Decreased nerve conduction vel...	ORPHA:580
15Q Overgrowth Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Mixed hearing impairment, Microretrogna...	ORPHA:314585
Mucopolysaccharidosis, Type Vii	Sensorineural hearing impairment, Hydrocephalus, Recurrent upper respiratory tract infections, Hy...	OMIM:253220
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Prominent nose, Hypoplasia of the ma...	ORPHA:763
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
Genitopalatocardiac Syndrome	Micrognathia, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Low-set ears	ORPHA:2075
Cardiofaciocutaneous Syndrome 1	Posteriorly rotated ears, Anteverted nares, Polyhydramnios, Depressed nasal bridge, Micrognathia,...	OMIM:115150
Pallister-Hall-Like Syndrome	Occipital encephalocele, Depressed nasal bridge, Micrognathia, Hydrocephalus, Short nose	OMIM:241800
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Wide nasal base, Wide nasal bridge	OMIM:616521
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Hypogonadism, Dilated third ventricle, Ventriculomegaly, Hearing i...	ORPHA:500055
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Increased head circumferenc...	ORPHA:268810
Faundes-Banka Syndrome	Fetal ascites, Micrognathia, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Cupped ear,...	OMIM:619376
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Carious teeth, Mandibular ost...	OMIM:259710
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Isotretinoin-Like Syndrome	Anteverted nares, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Micro...	ORPHA:2306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Optic nerve ...	OMIM:614643
Septopreoptic Holoprosencephaly	Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian polymicrogyria, Abnormal septum...	ORPHA:280195
Aymé-Gripp Syndrome	Pericarditis, Posteriorly rotated ears, Depressed nasal bridge, Pericardial effusion, Cryptorchid...	ORPHA:1272
Mucolipidosis Type Ii	Depressed nasal bridge, Sensorineural hearing impairment, Otitis media, Conductive hearing impair...	ORPHA:576
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Mend Syndrome	Prominent nasal bridge, Abnormal auditory evoked potentials, Micrognathia, Cryptorchidism, Hydroc...	ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Low-set ears, Overfolded helix, Vent...	OMIM:300514
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Atresia of the exter...	ORPHA:93259
Desmosterolosis	Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Abnormality of the nose,...	ORPHA:35107
Tetrasomy 5P	Posteriorly rotated ears, Anteverted nares, Micrognathia, Hydrocephalus, Wide nasal bridge, Low-s...	ORPHA:3309
17Q24.2 Microdeletion Syndrome	Otosclerosis, Micrognathia, Wide nasal bridge, Secondary amenorrhea, Microtia, Recurrent otitis m...	ORPHA:529962
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Microtia, Micrognathia, Oligohydramnios	ORPHA:1834
Pallister-Hall Syndrome	Abnormal basal ganglia MRI signal intensity, Natal tooth, Accessory oral frenulum, Cleft lip, Mic...	ORPHA:672
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Optic a...	ORPHA:370959
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Polyhydramnios, Micrognathia, Hydrocephalus, Hydranencephaly, Dandy-Walker malf...	OMIM:225790
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Spina bifida, Micrognathia, Hydrocephalus, Microtia, Hydranencephaly	ORPHA:2839
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Sensorine...	OMIM:616007
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Decreased level of plasminogen, Periodontitis, Abnormality of the midd...	ORPHA:722
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Low-set ears, Umbilical hernia	OMIM:104350
Frontometaphyseal Dysplasia 2	Abnormal pinna morphology, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Sensorineural...	OMIM:617137
Frontometaphyseal Dysplasia	Mixed hearing impairment, Micrognathia, Sensorineural hearing impairment, Wide nasal bridge, Cond...	ORPHA:1826
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Posteriorly rotated ears, Depressed nasal bridge, Long nose, Hydrocephalus, Optic atrophy, Low-se...	OMIM:618590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Cutis Laxa, Autosomal Recessive, Type Iib	Bulbous nose, Hydrocephalus, Narrow nasal ridge, Protruding ear	OMIM:612940
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Left Isomerism	OMIM:618300
Lathosterolosis	Anteverted nares, Micrognathia, Myelomeningocele, Wide nasal bridge, Conductive hearing impairmen...	OMIM:607330
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Dystonia, Optic nerve hypoplasia, Micrognathia, Sensorineural hearing impairment, La...	ORPHA:300570
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Wide nasal...	OMIM:618188
Desmosterolosis	Hypoplastic nasal bridge, Posteriorly rotated ears, Anteverted nares, Micrognathia, Hydrocephalus...	OMIM:602398
Fontaine Progeroid Syndrome	Mandibular prognathia, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Cryptorchi...	OMIM:612289
Cousin Syndrome	Posteriorly rotated ears, Micrognathia, Hydrocephalus, Low-set ears, Hydranencephaly, Stenosis of...	OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Op...	OMIM:236670
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Lymphedema, Cryptorc...	ORPHA:1340
Larsen Syndrome	Depressed nasal bridge, Cryptorchidism, Conductive hearing impairment, Spina bifida occulta, Hear...	OMIM:150250
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Low-set ears...	OMIM:616546
Craniopharyngioma	Papilledema, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Vertigo, Hydrocephalu...	ORPHA:54595
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Underdeveloped nasal alae, Broad nasal tip, Cryptorchidism, Sensorineural...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Underdeveloped nasal alae, Broad nasal tip, Cryptorchidism, Sensorineural...	ORPHA:352665
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Acne, ...	OMIM:101200
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormal dental enamel morphology, Choanal a...	ORPHA:2363
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal pinna morphology, Depressed nasal bridge, Micrognathia, Myelomeningocele,...	ORPHA:90652
Campomelic Dysplasia	Depressed nasal bridge, Spina bifida, Polyhydramnios, Micrognathia, Carious teeth, Hydrocephalus,...	OMIM:114290
Opitz-Kaveggia Syndrome	Choanal atresia, Micrognathia, Prominent nose, Cryptorchidism, Sensorineural hearing impairment, ...	OMIM:305450
Brittle Cornea Syndrome	Conductive hearing impairment, Sensorineural hearing impairment	ORPHA:90354
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Choanal atresia,...	OMIM:123790
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Wide nasal bridge, Pr...	ORPHA:1071
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment	OMIM:602080
Fraser Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Cleft ala nasi, Depressed nasal bridge, Underde...	ORPHA:2052
Fetal Akinesia Deformation Sequence 1	Posteriorly rotated ears, Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Cryptorchidism...	OMIM:208150
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, ...	ORPHA:96121
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the maxilla, Inc...	ORPHA:79345
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Tremor, Hydrocephalus, Optic d...	ORPHA:1454
Osteootohepatoenteric Syndrome	Hydrocephalus, Dehydration, Hearing impairment	OMIM:619377
Chromosome 6Q24-Q25 Deletion Syndrome	Anteverted nares, Hydrocephalus, Cupped ear, Lateral ventricle dilatation, Low-set ears	OMIM:612863
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Stapes ankylosis, Papilledema, Delayed eruption of teeth, Depressed nasal ...	OMIM:614188
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Calcification of the auricular cartilage, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, ...	ORPHA:3042
Kyphoscoliotic Ehlers-Danlos Syndrome	Micrognathia, Sensorineural hearing impairment, Abnormal nasal bridge morphology, Low-set ears, C...	ORPHA:536545
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Micrognathia, Persistence of primary teeth, C...	ORPHA:2785
Native American Myopathy	Conductive hearing impairment, Cryptorchidism, Micrognathia	ORPHA:168572
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Abnormal pinna morphology, Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenos...	OMIM:207410
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Otosclerosis, Wide nose, Sensorineural hearing impairment, Recurrent upper respirato...	ORPHA:217085
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Torticollis, Posteriorly rotated ears, Anteverted nares, Depressed nasa...	ORPHA:536467
Stromme Syndrome	Optic nerve hypoplasia, Prominent nasal bridge, Micrognathia, Hydrocephalus, Wide nasal bridge, S...	OMIM:243605
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Posteriorly rotated ears, Narrow nasal ridge, Micrognathia, Aqueductal ste...	OMIM:619512
Cockayne Syndrome Type 3	Optic disc pallor, Narrow nose, Carious teeth, Keratoconjunctivitis sicca, Adult onset sensorineu...	ORPHA:90324
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Conductive hearing impairment, Recurrent otitis media	OMIM:250420
Cardiospondylocarpofacial Syndrome	Decreased testicular size, Posteriorly rotated ears, Anteverted nares, Congenital sensorineural h...	OMIM:157800
Hurler Syndrome	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Rhinitis, Abnormal ne...	ORPHA:93473
Whipple Disease	Myositis, Pericarditis, Myocarditis, Hydrocephalus, Uveitis, Pedal edema, Arthritis, Erectile dys...	ORPHA:3452
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Otosclerosis, Wide nose, Sensorineural hearing impairment, Recurrent upper respirato...	ORPHA:217093
Medulloblastoma	Hydrocephalus, Vertigo, Abnormal cranial nerve morphology, Bilateral sensorineural hearing impair...	ORPHA:616
3Mc Syndrome 1	Conductive hearing impairment, Spina bifida occulta, Hearing impairment	OMIM:257920
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Floating-Harbor Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Prominent nose, Underdeveloped nasal alae, Cryp...	OMIM:136140
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Hearing impairment	ORPHA:2720
Temple Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:254516
Basal Cell Nevus Syndrome 2	Vertigo, Hydrocephalus	OMIM:620343
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Hunter-Macdonald Syndrome	Conductive hearing impairment, Umbilical hernia, Sensorineural hearing impairment, Premature oste...	OMIM:611962
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Wide nose, Palpebral edema, Micrognathia, Cryptorchidis...	ORPHA:261337
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Mixed hearing impairment, Pneumonia	ORPHA:309288
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Depressed nasal bridge, Sensorineural hearing impairment, Hydrocephalus, Lateral ventricle dilata...	OMIM:619575
Cryptococcosis	Osteomyelitis, Pneumonia, Prostatitis, Hydrocephalus, Peritonitis, Pleural effusion, Abnormality ...	ORPHA:1546
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Bifid uvula	OMIM:601374
Treacher Collins Syndrome 1	Choanal atresia, Micrognathia, Cryptorchidism, Microtia, Atresia of the external auditory canal, ...	OMIM:154500
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Uplifted earlobe, Wide nasal bridge, Hydrocele...	OMIM:280000
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Po...	ORPHA:709
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Depressed nasal bridge, Pneumonia, Carious teeth, Hydrocephalus, Recur...	OMIM:253200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism	OMIM:601794
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Anteverted nares, Micrognathia, Sens...	ORPHA:444077
Feingold Syndrome Type 1	Conductive hearing impairment, Sensorineural hearing impairment, Nephritis, Micrognathia	ORPHA:391641
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Depressed nasal bridge, Hydrocephalus, Optic dis...	OMIM:608091
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Depressed nasal bridge, Eczema, Mic...	ORPHA:235
Townes-Brocks Syndrome 1	Umbilical hernia, Hydrocephalus, Holoprosencephaly, Microcephaly	OMIM:107480
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Monosomy 9Q22.3	Delayed eruption of teeth, Hydrocephalus, Short nose, Low-set ears, Umbilical hernia, Thickened e...	ORPHA:77301
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Sensorineural hearing impairment, Bulbous nose, Hydrocephalus, Wide nasal bridge	ORPHA:250989
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Dystonia, Tremor, Vertigo, Athetosis, Subependymal nodules, Limb dys...	ORPHA:25
Charge Syndrome	Microcephaly, Cleft upper lip, Cleft palate, Holoprosencephaly, Umbilical hernia	OMIM:214800
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Hydrocephalus, Optic atrophy, Hearing impairment	ORPHA:220295
Turnpenny-Fry Syndrome	Mandibular prognathia, Prominent nasal tip, Torticollis, Polyhydramnios, Dental malocclusion, Mic...	OMIM:618371
Cornelia De Lange Syndrome	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Anteverted nares, Choanal atresia, ...	ORPHA:199
Orofaciodigital Syndrome Type 2	Natal tooth, Micrognathia, Talon cusp, Wide nasal bridge, Protruding ear, Hypoplasia of teeth, Ta...	ORPHA:2751
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Choreoathetosis, Cholesteatoma, Dystonia	OMIM:610978
Koolen-De Vries Syndrome Due To A Point Mutation	Thick nasal alae, Prominent nasal bridge, Testicular neoplasm, Spina bifida, Underdeveloped nasal...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Thick nasal alae, Prominent nasal bridge, Testicular neoplasm, Spina bifida, Underdeveloped nasal...	ORPHA:363958
Neurooculorenal Syndrome	Mixed hearing impairment, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Senso...	OMIM:620305
Tenorio Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Hydrocephalus, Recurrent pneumonia, Keratocon...	OMIM:616260
Cerebrotendinous Xanthomatosis	Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas...	ORPHA:909
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Pneumonia, Carious teeth, Cryptorchidism, Sensorineural hearing impairment, Talon cu...	ORPHA:353281
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Double Outlet Right Ventricle	Heterotaxy	ORPHA:3426
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Fanconi Anemia	Aganglionic megacolon, Choanal atresia, Spina bifida, Micrognathia, External ear malformation, Cr...	ORPHA:84
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Abnormal lateral ventricle morphology, Pneumonia, Polyhydramnios, Micrognathia, Cari...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Abnormal lateral ventricle morphology, Pneumonia, Polyhydramnios, Micrognathia, Cari...	ORPHA:353277
Orofaciodigital Syndrome I	Microretrognathia, Underdeveloped nasal alae, Carious teeth, Myelomeningocele, Hydrocephalus, Sup...	OMIM:311200
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Keratoc...	OMIM:616914
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Depressed ...	OMIM:607872
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Bilateral conductive hearing impairment, Hearing impairment	ORPHA:488642
Cerebrocostomandibular Syndrome	Posteriorly rotated ears, Polyhydramnios, Micrognathia, Carious teeth, Low-set ears, Conductive h...	OMIM:117650
Partial Atrioventricular Septal Defect	Heterotaxy	ORPHA:1330
Branchiooculofacial Syndrome	Posteriorly rotated ears, Facial palsy, Depressed nasal bridge, Micrognathia, Broad nasal tip, Cr...	OMIM:113620
Congenital Myopathy 22A, Classic	Polyhydramnios, Micrognathia, Wide nasal bridge, Normal pressure hydrocephalus, Neonatal death, M...	OMIM:620351
Distal Deletion 12Q	Late onset atopic dermatitis, Unilateral cryptorchidism, Anteverted nares, Micrognathia, Prominen...	ORPHA:96149
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Dilated th...	OMIM:613154
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Cryptorchidism, Sensorineural hearing ...	ORPHA:1606
Cole-Carpenter Syndrome 2	Microretrognathia, Hydrocephalus, Dentinogenesis imperfecta, Oligohydramnios	OMIM:616294
Wolf-Hirschhorn Syndrome	Abnormal pinna morphology, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Hydroc...	OMIM:194190
Mend Syndrome	Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Cryptorchidism...	OMIM:300960
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Natal tooth, Micrognathia, L...	OMIM:249000
Baller-Gerold Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Prominent nasal bridg...	OMIM:218600
Hutchinson-Gilford Progeria Syndrome	High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Female hypogonadism, ...	ORPHA:740
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Conductive hearing impairment, Recurrent otitis media	ORPHA:2502
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Tremor, Hydrocephalus, Otitis media, Chronic rhinitis, Optic nerve com...	ORPHA:667
Plasminogen Deficiency, Type I	Hydrocephalus, Recurrent upper respiratory tract infections, Decreased level of plasminogen, Conj...	OMIM:217090
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Acro-Renal-Ocular Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Optic disc coloboma, Aganglionic...	ORPHA:959
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Optic disc pallor, Mixed hearing impairment, Mandibular prognathia, ...	ORPHA:309282
Hajdu-Cheney Syndrome	Wide nose, Anteverted nares, Micrognathia, Hydrocephalus, Wide nasal bridge, Abnormal mandible mo...	ORPHA:955
Degcags Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Hearing impairment, Polyhydramnios, Anteverted ...	OMIM:619488
Otopalatodigital Syndrome, Type Ii	Posteriorly rotated ears, Depressed nasal bridge, Spina bifida, Micrognathia, Cryptorchidism, Hyd...	OMIM:304120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:60040
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Hydroc...	OMIM:101600
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Polyhydramnios	OMIM:187600
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Uplifted earlobe, Poly...	OMIM:619841
Pseudoaminopterin Syndrome	Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Cryptorchidism, Hydrocep...	ORPHA:221120
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Otitis media, Intention tremor, Anteverted nares, Wide nasal bridge, Hypsarrhythm...	OMIM:619475
Adams-Oliver Syndrome	Encephalocele, EEG abnormality, Hydrocephalus, Ascites	ORPHA:974
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Sotos Syndrome	Ventriculomegaly, Aganglionic megacolon, Tremor, Cryptorchidism, No permanent dentition, Decrease...	ORPHA:821
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sensorineural hearing impairment, Decreased circulating antibody level	OMIM:616084
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased circulating total IgG, Pneumonia, Elevated circulating C-reactive protei...	OMIM:619381
Robinow Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Mic...	ORPHA:97360
Heterotaxy, Visceral, 7, Autosomal	Situs inversus totalis, Heterotaxy	OMIM:616749
Thakker-Donnai Syndrome	Communicating hydrocephalus, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Macrotia	ORPHA:1780
Tetrasomy 9P	Myositis, Glue ear, Pericarditis, Abnormal dental enamel morphology, Micrognathia, Cryptorchidism...	ORPHA:3310
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Depressed nasal bridge, Micrognathia, Hydrocephalus, Microtia, Low-set ears, P...	OMIM:245600
Gaucher Disease	Osteomyelitis, Elevated circulating C-reactive protein concentration, Tremor, Hydrocephalus, Oste...	ORPHA:355
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Increased cup-to-disc ratio	ORPHA:447788
Branchioskeletogenital Syndrome	Attached earlobe, Mandibular prognathia, Mixed hearing impairment, Depressed nasal bridge, Broad ...	ORPHA:1299
Generalized Arterial Calcification Of Infancy	Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Edema, Poly...	ORPHA:51608
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele, Polyhydramnios	ORPHA:2119
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Micrognathia, Hydrocephalus, Optic atrophy, Stillbirth, Ascites,...	OMIM:259720
Fanconi Anemia, Complementation Group L	Micrognathia, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Anotia, Microtia, Low-set ears	OMIM:614083
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Hydrocephalus, Macrotia, Low-set ears	OMIM:277400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Full Nf2-Related Schwannomatosis	Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Sensorineural hearing impairment, Hydr...	ORPHA:637
Cardiac-Valvular Ehlers-Danlos Syndrome	Bulbous nose, Severe conductive hearing impairment	ORPHA:230851
Floating-Harbor Syndrome	Narrow nasal bridge, Persistence of primary teeth, Hypoplasia of the maxilla, Cryptorchidism, Lon...	ORPHA:2044
Osteogenesis Imperfecta	Delayed eruption of teeth, Mixed hearing impairment, Abnormality of dental color, Abnormal dental...	ORPHA:666
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Hydrocephalus, Wide nasal bridge, Prominent nose	OMIM:614886
Laurin-Sandrow Syndrome	Prominent nose, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Abnormality of the nose...	ORPHA:2378
Glutaric Acidemia I	Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Dystonia	OMIM:231670
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Chordee, Colpocephaly, Hearing impairment	OMIM:309801
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Anteverted...	ORPHA:93357
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Low-set ears, Hearing impairment	OMIM:227646
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Wide nose, Depressed nasal bridge, Choanal atresia, Simple ear, Cryptorchidism, Oligohydramnios, ...	OMIM:201750
Alobar Holoprosencephaly	Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal ridge, Single naris, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal ridge, Single naris, ...	ORPHA:93926
Lobar Holoprosencephaly	Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal ridge, Single naris, ...	ORPHA:93924
Semilobar Holoprosencephaly	Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal ridge, Single naris, ...	ORPHA:220386
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus, Polyhydramnios	OMIM:314390
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Posteriorly rotated ears, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Hydrocephal...	ORPHA:163979
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Mixed hearing impairment, Optic atrophy, Wide nasal bridge	OMIM:201180
Microphthalmia With Linear Skin Defects Syndrome	Wide nose, Abnormal dental enamel morphology, Micrognathia, Hydrocephalus, Abnormality of the ear...	ORPHA:2556
Neonatal Lupus Erythematosus	Skin rash, Hydrocephalus, Malar rash, Maculopapular exanthema	ORPHA:398124
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Prominent nasal brid...	OMIM:619325
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Meningioma	Papilledema, Hypogonadotropic hypogonadism, Facial palsy, Ear pain, Hydrocephalus, Abnormality of...	ORPHA:2495
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Kabuki Syndrome 1	Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Protrud...	OMIM:147920
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Mandibular prognathia, Posteriorly rotated ears, Prominent nasal bri...	OMIM:617011
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Anteverted nares, Broad nasal tip, Sensorineural hearing impairment, Fa...	OMIM:272460
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Facial palsy, Abnormal dental enamel morphology, Choanal atresia, Cryptorc...	ORPHA:2658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Elevated circulating crea...	OMIM:615287
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus, Optic atrophy, Hydrops fetalis, Dehydration, Low-set ears, Stomatitis	ORPHA:79282
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairmen...	OMIM:164210
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Depressed nasal bridge, Hypoplasia of the premaxilla, Microgna...	ORPHA:1106
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Glycogen Storage Disease Of Heart, Lethal Congenital	Pericardial effusion, EEG with burst suppression, Hydrocephalus, Anasarca, Peripheral edema, Pleu...	OMIM:261740
Sturge-Weber Syndrome	Hearing abnormality, Hydrocephalus, Optic atrophy	ORPHA:3205
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Mirage Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Aspiration pneumonia, Decreased te...	OMIM:617053
Yunis-Varon Syndrome	Narrow nasal base, Abnormal pinna morphology, Anteverted nares, Polyhydramnios, Micrognathia, Abn...	ORPHA:3472
Focal Dermal Hypoplasia	Delayed eruption of teeth, Narrow nasal bridge, Mixed hearing impairment, Cleft ala nasi, Broad n...	OMIM:305600
Alexander Disease	Facial palsy, Aqueductal stenosis, Tremor, Hydrocephalus, EEG abnormality, Abnormal autonomic ner...	ORPHA:58
Down Syndrome	Conductive hearing impairment, Microtia, Aganglionic megacolon	OMIM:190685
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Bronchiectasis, Noncommunicating hydrocephalus, Chr...	OMIM:618699
Dextrocardia	Hydrocephalus, Aplasia/Hypoplasia of the ear	ORPHA:1666
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Polyhydramnios, Micrognathia, Anencephaly, Stillbirth, Midline defect ...	OMIM:236680
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Mowat-Wilson Syndrome	Mandibular prognathia, Uplifted earlobe, Conductive hearing impairment, Broad columella, Cryptorc...	ORPHA:2152
Gracile Bone Dysplasia	Hydrocephalus, Ascites	OMIM:602361
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus, Anteverted nares, Mandibular prognathia	ORPHA:2969
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Peters-Plus Syndrome	Ventriculomegaly, Posteriorly rotated ears, Polyhydramnios, Micrognathia, Hypoplasia of the maxil...	OMIM:261540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Chondrodysplasia Punctata, Autosomal Dominant	Hypoplasia of the nasal bone	OMIM:118650
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Spontaneous, recurrent epistaxis, Sensorineural hearing impairment, Hydrocephalus, A...	ORPHA:2072
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Posteriorly rotated ears, Convex nasal ridge, Anteverted ...	OMIM:264090
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle	OMIM:600901
Marden-Walker Syndrome	Posteriorly rotated ears, Micrognathia, Hydrocephalus, Low-set ears, Retrognathia	ORPHA:2461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Micrognathia	ORPHA:1064
Costello Syndrome	Posteriorly rotated ears, Anteverted nares, Polyhydramnios, Micrognathia, Depressed nasal bridge,...	OMIM:218040
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle	OMIM:227650
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:395
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Macrotia	ORPHA:168577
Osteopetrosis, Autosomal Recessive 7	Optic nerve compression, Hydrocephalus, Recurrent pneumonia, Optic atrophy, Decreased circulating...	OMIM:612301
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Optic atrophy, Increased circulating IgM level, Hypoalbuminemia, Conjunctivitis, S...	ORPHA:505248
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Anteverted nares, Micrognathia, Prominent nose, Cryptorchidism, Hydrocephalus, Lateral ventricle ...	OMIM:210710
Tetraamelia Syndrome 1	Choanal atresia, Micrognathia, Hydrocephalus, Single naris, Low-set ears	OMIM:273395
Capillary Malformation-Arteriovenous Malformation	Nonimmune hydrops fetalis, Epistaxis, Lymphedema, Hydrocephalus, Chylothorax	ORPHA:137667
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle	OMIM:227645
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Hydrocephalus, Eczema, Allergic rhinitis	OMIM:618162
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Hypogonadotropic hypogonadism, Posteriorly rotated ears, Wide nasal ridge, Convex na...	ORPHA:3455
Liver Disease, Severe Congenital	Chronic gastritis, Depressed nasal bridge, Eczema, Elevated circulating alpha-fetoprotein concent...	OMIM:619991
Biliary, Renal, Neurologic, And Skeletal Syndrome	Generalized edema, Anteverted nares, Depressed nasal bridge, Edema, Polyhydramnios, Aqueductal st...	OMIM:619534
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Low-set ears	OMIM:306955
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Cryptorchidism, ...	OMIM:312870
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Communicating hydrocephalus, Prominent ...	ORPHA:457359
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida, Hypsarrhythmia	OMIM:162200
Cole-Carpenter Syndrome	Communicating hydrocephalus, Delayed eruption of teeth, Abnormal dental enamel morphology, Microg...	ORPHA:2050
Roberts-Sc Phocomelia Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Polyhydramnios, Micrognathia, Underdeveloped...	OMIM:268300
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Hydrocephalus, Elevated circulating creatine kinase concentration, ...	ORPHA:228308
Diets-Jongmans Syndrome	Heterotaxy	OMIM:618846
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Hydrocephalus, Elevated circulating creatine kinase concentration	ORPHA:157
Lymphangioleiomyomatosis	Lymphedema, Hydrocephalus, Optic atrophy, Chylopericardium, Chylothorax, Ascites	ORPHA:538
Neurofibromatosis Type 1	Cryptorchidism, Hydrocephalus, Hearing abnormality, Hearing impairment	ORPHA:636
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Oligohydramnios	ORPHA:3016
Limb Body Wall Complex	Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph...	ORPHA:2369
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Hydrocephalus, Wide nasal bridge, Spina bifida	OMIM:109400
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Isomerism	OMIM:619657
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Convex nasal ridge, Hydrocephalus, Optic atrophy, Hypoplasia of the ovary...	OMIM:619321
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Optic nerve hypoplasia, Ventriculomegaly	ORPHA:457284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Elevated circulating creatine kinase concentration, Micrognathia, Hydrocephalus, Optic atrophy, E...	OMIM:253280
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Hydrocephalus, Protruding ear, Abnormal dental pulp morphology	ORPHA:363700
Histiocytoid Cardiomyopathy	Hydrocephalus, Optic atrophy, Pulmonary edema	ORPHA:137675
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Delayed eruption of primary teeth, Carious teeth, Cupped ear, Xerostomi...	OMIM:149730
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Optic nerve compression	ORPHA:91350
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom...	ORPHA:573278
Exstrophy-Epispadias Complex	Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction	ORPHA:322
Loeys-Dietz Syndrome 2	Eosinophilic infiltration of the esophagus, Micrognathia, Hydrocephalus, Umbilical hernia, Retrog...	OMIM:610168
Loeys-Dietz Syndrome 1	Hydrocephalus, Retrognathia, Eosinophilic infiltration of the esophagus, Micrognathia	OMIM:609192
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Elevated circulating creatine kinase concentration, Hydrocephalus, Peripapillary atroph...	OMIM:175780
Heterotaxy, Visceral, 12, Autosomal	Situs inversus totalis, Abdominal situs ambiguus, Left Isomerism	OMIM:619702
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Congenital Total Pulmonary Venous Return Anomaly	Heterotaxy	ORPHA:99125

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 Tgif1

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 Tgif1.

No publications found that use IMPC mice or data for Tgif1.

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
Tgif1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tgif1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tgif1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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