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Gene: Tgif1 MGI:1194497

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Short stature, Intrauterine growth retardation OMIM:135950
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Cerebral cortical atrophy, Holoprosencephaly, Microcephaly ORPHA:2523
Microhydranencephaly, X-Linked
Microcephaly, Holoprosencephaly OMIM:306990
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... OMIM:617967
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate ORPHA:945
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles... OMIM:221300
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Abnormality of the ear, Hydrocephalus OMIM:600257
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana... ORPHA:3216
Holoprosencephaly 11
Cleft lip, Agenesis of corpus callosum, Microcephaly, Holoprosencephaly, Cleft palate OMIM:614226
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Macrocephaly OMIM:300706
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Anterior encephalocele, Absent septum pellucidum, Bilateral cleft palate, Bilate... OMIM:601357
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference OMIM:619033
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, M... ORPHA:1908
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Microphthalmia/Coloboma 5
Orofacial cleft, Holoprosencephaly OMIM:611638
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosencephaly, Non-midline cl... ORPHA:2117
Distal Monosomy 7Q36
Microcephaly, Holoprosencephaly, Wide mouth, Non-midline cleft of the upper lip, Cleft palate ORPHA:1636
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr... ORPHA:2182
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft upper lip, Microcephaly, Holoprosencephaly, Cleft palate ORPHA:2165
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Pineocytoma
Increased CSF protein concentration, Hearing abnormality, Hydrocephalus ORPHA:251912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Chromosome 1Q41-Q42 Deletion Syndrome
Ventriculomegaly, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Cerebellar hy... OMIM:612530
Craniodiaphyseal Dysplasia
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Conductive hearing impairment, Stenosis... ORPHA:1513
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Alobar holoprosencephaly, Agenesis of corpus callosum, High palate, Short philtrum OMIM:615433
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Microcepha... ORPHA:2570
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
EEG abnormality, Hydrocephalus, Hearing impairment ORPHA:1008
Monosomy 18P
Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Microcephaly, H... ORPHA:1598
Triploidy
Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Hydrocephalus, Macrocephaly, Macroglossi... ORPHA:3376
16P13.11 Microdeletion Syndrome
Ventriculomegaly, Cleft upper lip, Wide mouth, Exaggerated cupid's bow, Agenesis of corpus callos... ORPHA:261236
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum ORPHA:588
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Solitary median maxillary central incisor, Micro... OMIM:147250
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Distal Deletion 13Q
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Holoprosencephaly, Anence... ORPHA:1590
Chudley-Mccullough Syndrome
Ventriculomegaly, Severe sensorineural hearing impairment, Hydrocephalus OMIM:604213
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Ventriculomegaly, Conductive hearing impairment ORPHA:85179
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Cleft lip, Absent septum pellucidum, Median cleft upp... OMIM:619895
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Hydrocephalus, Macrocephaly, Holoprosencephaly ORPHA:93274
Lambotte Syndrome
Microcephaly, Semilobar holoprosencephaly, Narrow mouth OMIM:245552
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Microform Holoprosencephaly
Tented upper lip vermilion, Agenesis of corpus callosum, Solitary median maxillary central inciso... ORPHA:280200
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Microcephaly 29, Primary, Autosomal Recessive
Hypoplastic philtrum, Primary microcephaly, Simplified gyral pattern OMIM:620047
Periventricular Nodular Heterotopia 9
Everted upper lip vermilion, Polymicrogyria, Gingival overgrowth, Hypoplasia of the corpus callos... OMIM:618918
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Holoprosencephaly 7
Alobar holoprosencephaly, Agenesis of corpus callosum, Bilateral cleft palate, Holoprosencephaly,... OMIM:610828
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Ventriculomegaly, Velopharyngeal insufficiency, Long philtrum, Submucous cleft... OMIM:614701
Ring Chromosome 21 Syndrome
Microcephaly, Holoprosencephaly ORPHA:1445
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Narrow mouth, Agenesis of corpus callosum, Holoprosencephaly, Cleft palate OMIM:202650
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Wide nasal bridge, Conductive hearing impairment, Underdeveloped nasal alae, Micrognathia, Microtia OMIM:248910
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Holoprosencephaly 3
Bifid uvula, Ventriculomegaly, Cleft lip, Solitary median maxillary central incisor, Microcephaly... OMIM:142945
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Oculopharyngodistal Myopathy 3
Increased CSF protein concentration, Conductive hearing impairment, Tremor, Elevated circulating ... OMIM:619473
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Recurrent otitis media, Agam... OMIM:616910
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Holoprosencephaly 4
Median cleft upper lip, Semilobar holoprosencephaly, Median cleft palate OMIM:142946
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Conductive hearing impairment, Choreoathetosis, Anteverted nares OMIM:618497
Pseudotrisomy 13 Syndrome
Cleft upper lip, Polymicrogyria, Median cleft palate, Encephalocele, Agenesis of corpus callosum,... OMIM:264480
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Conductive hearing impairment, Chronic sinusitis, Absent inner and outer dynein a... OMIM:618063
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Abnormality of the outer ear, Hypoplasia of the maxilla, Conductive ... ORPHA:79113
Developmental And Epileptic Encephalopathy 36
Low-set ears, Optic atrophy, Microretrognathia, Anteverted nares, Hypsarrhythmia, Hydrocephalus OMIM:300884
Developmental And Epileptic Encephalopathy 63
Bulbous nose, EEG with generalized epileptiform discharges, Conductive hearing impairment OMIM:617976
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Wide nasal bridge, Widely-spaced maxillary central incisors, Thick lower lip vermilion, Wide mout... OMIM:309580
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Treacher Collins Syndrome 4
Micrognathia, Conductive hearing impairment, Choanal stenosis OMIM:618939
Fried Syndrome
Hydrocephalus, Hearing impairment, Macrotia ORPHA:85335
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Ho... ORPHA:990
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Ventriculomegaly, Natal tooth, Focal polymicrogyria, Thick upper lip vermilion... OMIM:612651
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Conductive hearing impairment, Underdeveloped nasal alae, Micrognathia, Encephal... ORPHA:398156
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Conductive hearing impairment, Recurrent otitis media, Chronic rhinitis, Bro... OMIM:616726
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Broad nasal tip, Conductive he... OMIM:136760
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, General... ORPHA:52368
Congenital Hydrocephalus
Optic atrophy, Ventriculomegaly, Bulbous nose, Sensorineural hearing impairment, Colpocephaly, Hy... ORPHA:2185
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Abnormal dental enamel mor... ORPHA:3236
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Submucous cleft hard ... OMIM:301043
Crouzon Syndrome
Optic atrophy, Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing... ORPHA:207
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Hydroce... ORPHA:93262
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Abn... ORPHA:3145
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
EEG with burst suppression, Hydrocephalus OMIM:266100
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Branchial cyst, Branchial ... ORPHA:50815
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Agyria, Hypoplasia of the brainstem, Encephalocele, Agenes... OMIM:253800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Otofaciocervical Syndrome
Depressed nasal bridge, Conductive hearing impairment, Atresia of the external auditory canal, An... ORPHA:2792
Microtia-Anotia
Holoprosencephaly OMIM:600674
Ramon Syndrome
Abnormal dental enamel morphology, Conductive hearing impairment, Delayed eruption of teeth, Sens... ORPHA:3019
Iniencephaly
Lissencephaly, Spinal dysraphism, Myelomeningocele, Narrow mouth, Encephalocele, Orofacial cleft,... ORPHA:63259
Holoprosencephaly 9
Alobar holoprosencephaly, Bilateral cleft palate, Short hard palate, Holoprosencephaly, Short nos... OMIM:610829
Craniometaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Abnormal cranial nerve ... ORPHA:1522
Holoprosencephaly-Craniosynostosis Syndrome
Microcephaly, Holoprosencephaly ORPHA:2163
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Microcephaly, Hypoplastic philtrum, Macrocephaly OMIM:616682
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Agenesis of corpus callosum, Col... OMIM:618651
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Low-set ears, Wide nasal bridge, Underdeveloped nasal alae, Umbilical hernia, Stenosis of the ext... ORPHA:1516
Burn-Mckeown Syndrome
Choanal atresia, Conductive hearing impairment, Hearing impairment, Bilateral choanal atresia, Bi... OMIM:608572
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Middle Ear Neuroendocrine Tumor
Abnormal tympanic membrane morphology, Unilateral conductive hearing impairment, Sensorineural he... ORPHA:100084
Gómez-López-Hernández Syndrome
Low-set ears, Anteverted nares, Hydrocephalus ORPHA:1532
Acrocraniofacial Dysostosis
Choanal atresia, Conductive hearing impairment, Low-set, posteriorly rotated ears, Anteverted nar... ORPHA:949
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Low-set ears, Optic atrophy, Depressed nasal ridge, Conductive hearing impairment, Anteverted nar... OMIM:618672
Primary Ciliary Dyskinesia
Abnormal sperm motility, Bronchiectasis, Conductive hearing impairment, Hearing impairment, Femal... ORPHA:244
Hypertelorism-Microtia-Facial Clefting Syndrome
Bifid nasal tip, Conductive hearing impairment, Atresia of the external auditory canal, Bifid nos... ORPHA:2213
Zechi-Ceide Syndrome
Low-set ears, Wide nasal bridge, Abnormal helix morphology, Conductive hearing impairment, Abnorm... ORPHA:217017
Craniotelencephalic Dysplasia
Optic atrophy, Low-set, posteriorly rotated ears, Hydrocephalus, Frontal encephalocele, Septo-opt... ORPHA:1528
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Cleft palate, Hydrocephalus, Cleft upper lip ORPHA:398189
Steinfeld Syndrome
Bifid uvula, Aplasia of the nose, Median cleft palate, Median cleft upper lip, Holoprosencephaly OMIM:184705
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impair... OMIM:616367
Branchiogenic-Deafness Syndrome
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Sensorineural hearing ... OMIM:609166
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Narrow mouth, Encephalocele, Cerebel... ORPHA:2166
Ciliary Dyskinesia, Primary, 1
Pneumonia, Anosmia, Nasal polyposis, Conductive hearing impairment, Absent outer dynein arms, Com... OMIM:244400
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Choanal atresia, Depressed nasal bridge, Hearing impairment, Myelomeningocele, Ant... ORPHA:1914
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Short mandibular rami, Mic... OMIM:141400
Lissencephaly 5
Optic atrophy, Hydrocephalus, Occipital encephalocele, Hearing impairment OMIM:615191
Thoracic Dysplasia-Hydrocephalus Syndrome
Depressed nasal ridge, Communicating hydrocephalus, Conductive hearing impairment ORPHA:1861
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate OMIM:619452
Auriculocondylar Syndrome 3
Bilateral conductive hearing impairment, Retrognathia, Question mark ear, Stenosis of the externa... OMIM:615706
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Median cleft palate, Neonatal death, Median cleft upper lip, Hy... OMIM:269860
Cleft Velum
Recurrent otitis media, Hypoplasia of the maxilla, Conductive hearing impairment, Aspiration pneu... ORPHA:99772
Parietal Foramina 1
Cleft palate, Encephalocele, Cleft upper lip, Macrocephaly OMIM:168500
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Underdeveloped nasal alae, Stapes ankylosis, Congenital stapes ank... OMIM:184460
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal, Hyposmia OMIM:607842
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Oculoskeletodental Syndrome
Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Hearing impairment, Bro... ORPHA:557003
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Microcephaly, Cleft palate, Spina bifida... ORPHA:3380
Smith-Magenis Syndrome
Wide nasal bridge, Abnormal nerve conduction velocity, Abnormality of the outer ear, Ventriculome... OMIM:182290
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Coffin-Siris Syndrome 6
Low-set ears, Depressed nasal bridge, Broad nasal tip, Conductive hearing impairment, Retrognathi... OMIM:617808
Hartsfield Syndrome
Alobar holoprosencephaly, Semilobar holoprosencephaly, Cleft upper lip, Agenesis of corpus callos... OMIM:615465
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Hypoplasi... ORPHA:96264
Joubert Syndrome 15
Exencephaly OMIM:614464
Microtia
Holoprosencephaly ORPHA:83463
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Umbilical hernia, Low-set,... ORPHA:1488
Alopecia Antibody Deficiency
Abnormality of dental color, Decreased circulating antibody level, Conductive hearing impairment ORPHA:1006
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Carious teeth, Conductive hearing impairment, Atresia of the external a... ORPHA:2316
Joubert Syndrome 10
Low-set ears, Conductive hearing impairment, Polyhydramnios, Wide nasal bridge OMIM:300804
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, Abnormal pinna morphology, Sensorineural hearing impairment OMIM:214300
Usher Syndrome, Type Ig
Abnormal vestibular function, Hypoplasia of the nasal bone, Sensorineural hearing impairment OMIM:606943
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Agenesis of corpus callosum, Solitary median maxillary central incis... ORPHA:556955
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Congenital Toxoplasmosis
Ascites, Hydrocephalus, Ventriculomegaly, Hearing impairment ORPHA:858
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Branchial fistula, Retrognathia, Sen... OMIM:602588
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Narrow mouth, Hypoplasia of the corpus callosum, Agenesis of corpus callo... ORPHA:468631
Holoprosencephaly
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tooth agenesis, Branchial anomaly, ... ORPHA:2162
6P22 Microdeletion Syndrome
Low-set ears, Overfolded helix, Hearing impairment, Hydrocephalus ORPHA:251046
Treacher Collins Syndrome 3
Micrognathia, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Microtia OMIM:248390
Aicardi-Goutieres Syndrome 4
Low-set ears, Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus, Convex nasal ridge, ... OMIM:610333
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Long philtrum, Absent septum pellucidum, Hypoplasia of the corpus ca... OMIM:618500
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural hearing impa... ORPHA:2549
Holoprosencephaly 1
Alobar holoprosencephaly, Median cleft palate, Agenesis of corpus callosum, Cerebellar hypoplasia... OMIM:236100
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Micrognathia, Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:300946
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Median cleft upper lip, Microcephaly, Orofacial cleft, Holoprosencephaly ORPHA:3186
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Macrotia, Sensorineural hearing impairment ORPHA:921
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Cleft palate OMIM:614120
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Conductive hearing impairment ORPHA:1997
Krabbe Disease
Increased CSF protein concentration, Optic atrophy, Hearing impairment, Decreased nerve conductio... OMIM:245200
Diencephalic Syndrome
Optic atrophy, Hydrocephalus, Macrotia ORPHA:1672
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Conductive hearing impairment, Atresia of the external auditory canal, Micrognat... OMIM:239800
Isolated Cleft Lip
Conductive hearing impairment, Umbilical hernia, Supernumerary maxillary incisor, Abnormal Eustac... ORPHA:199302
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Sensorineural h... OMIM:109120
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge OMIM:618302
Trichorhinophalangeal Syndrome Type 2
Wide nasal bridge, Ventriculomegaly, Conductive hearing impairment, Low-set, posteriorly rotated ... ORPHA:502
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Hearing impairment, Low-set, posteriorly rotated ears, Anteverted nares, Hydroceph... ORPHA:2701
Ring Chromosome 7 Syndrome
Wide nasal bridge, Cerebral cortical atrophy, Ventriculomegaly, Bifid uvula, Narrow mouth, Median... ORPHA:1449
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hearing abnormality, Hydrocephalus ORPHA:251915
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Narrow nasal bridge, Micrognat... ORPHA:3082
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear... ORPHA:1131
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpus... OMIM:613884
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Ventriculomegaly, Thick upper lip vermilion, Basal ganglia calcific... OMIM:617281
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Hand tremor, Postural tremor, Sensorineural hearing impairment, Hydrocephalus ORPHA:99947
Deafness, Progressive, With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis OMIM:601449
Progressive Deafness With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis ORPHA:3235
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Ventriculomegaly, Tented upper lip vermilion, Hypoplasia of the corpus... ORPHA:85277
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Lateral ventricle dilatation, Tented upper lip vermilion, Thin upper lip vermi... OMIM:615716
Central Neurocytoma
Tinnitus, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Undetectable visual evoked potentials, Ventriculomegaly, Retrognathia, Thick nasal ... ORPHA:163961
Holoprosencephaly 2
Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Submucou... OMIM:157170
Postaxial Acrofacial Dysostosis
Cupped ear, Conductive hearing impairment, Low-set, posteriorly rotated ears, Micrognathia, Abnor... ORPHA:246
Cleft Lip/Palate
Hypoplasia of the maxilla, Conductive hearing impairment, Dental malocclusion, Recurrent otitis m... ORPHA:199306
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
Optic atrophy, Occipital encephalocele, Hydrocephalus ORPHA:352682
Jacobsen Syndrome
Microcephaly, Hydrocephalus, Macrocephaly, Holoprosencephaly, U-Shaped upper lip vermilion, Short... OMIM:147791
Houge-Janssens Syndrome 2
Ventriculomegaly, Tented upper lip vermilion, Open mouth, Hypoplasia of the corpus callosum, Agen... OMIM:616362
Genitourinary And/Or Brain Malformation Syndrome
Long philtrum, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corp... OMIM:618820
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal p... OMIM:616900
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Branchial cyst, Bra... OMIM:113650
Intellectual Developmental Disorder, Autosomal Dominant 65
Wide nasal bridge, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion, Tented ... OMIM:619320
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Arachnoid Cyst
Enlarged fossa interpeduncularis, Encephalocele, Hydrocephalus, Holoprosencephaly, Posterior foss... ORPHA:2356
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the external ... OMIM:123500
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Depressed nasal bridge, Conductive hearing impa... ORPHA:2876
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Depressed nasal bridge, Umbilical hernia, Anteverted nares, Micrognathia, Short col... ORPHA:171839
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Micrognathia, Conductive hearing impairment OMIM:601076
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Microtia, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear OMIM:251800
Larsen-Like Syndrome
Low-set ears, Dental malocclusion, Conductive hearing impairment, Recurrent otitis media, Absent ... OMIM:608545
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Hearing impairment, Retrognathia, ... OMIM:620157
Radio-Tartaglia Syndrome
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Hearing i... OMIM:619312
Rabin-Pappas Syndrome
Wide nasal bridge, Broad nasal tip, Conductive hearing impairment, Retrognathia, Micrognathia, Se... OMIM:620155
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Conductive hearing impairment, Antev... ORPHA:819
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Anteverted nares, Anterior open-bite malocclusion, S... OMIM:617877
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Tented upper lip vermilion, Short corpus callosum, Lateral ventricle dilatation, Long philtrum OMIM:619972
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Umbilical he... ORPHA:2789
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Thanatophoric Dysplasia
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Hearing impairment, Increased nuchal tran... ORPHA:2655
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Kbg Syndrome
Bilateral conductive hearing impairment, Underdeveloped nasal alae, Anteverted nares, Prominent n... ORPHA:2332
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Branchial cyst, Retrognathia, Enlarge... ORPHA:107
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Non-Functioning Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Tremor, Paroxysmal vertigo, Pulsatile t... ORPHA:94080
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Neonatal death, Aganglionic megacolon, T... OMIM:600501
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Cleft lip, Occipital encephalocele, Natal tooth, Lobulated tongue, ... OMIM:615948
Acrootoocular Syndrome
Low-set ears, Wide nasal base, Conductive hearing impairment, Atresia of the external auditory ca... ORPHA:2980
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ventriculomegaly, Vertigo, Hydrocephalus, Nasofrontal encephalocele, Optic disc pallor, Severe se... OMIM:614195
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Hypoalbuminemia, Wide nasal bridge, Depressed nasal bridge, Conductive hearing impa... OMIM:235510
Arachnoiditis
Tinnitus, Hydrocephalus, Hearing impairment ORPHA:137817
Marshall-Smith Syndrome
Optic atrophy, Choanal atresia, Ventriculomegaly, Conductive hearing impairment, Retrognathia, An... ORPHA:561
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Conductive hearing impairment, Hearing impairment, Dental malocclusion, U... OMIM:616331
Isolated Exencephaly
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:563612
Dandy-Walker Malformation With Postaxial Polydactyly
Low-set ears, Depressed nasal bridge, Wide nasal bridge, Microretrognathia, Dilated fourth ventri... OMIM:220220
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Mandibular pain OMIM:607634
Schisis Association
Unilateral cleft lip, Encephalocele, Microcephaly, Spina bifida, Anencephaly, Cleft palate ORPHA:63862
Bresek Syndrome
Low-set ears, Hearing impairment, Neonatal death, Protruding ear, Aganglionic megacolon, Hydrocep... ORPHA:85284
Adams-Oliver Syndrome 2
Low-set ears, Optic atrophy, Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, ... OMIM:614219
Mucolipidosis Type Iii Alpha/Beta
Depressed nasal bridge, Recurrent upper respiratory tract infections, Conductive hearing impairme... ORPHA:423461
Chromosome 18Q Deletion Syndrome
Atopic dermatitis, Optic atrophy, Depressed nasal bridge, Conductive hearing impairment, Atresia ... OMIM:601808
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Depressed nasal bridge, Natal tooth, Bilateral conductive hearing impairment, Micro... OMIM:617802
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrotia OMIM:300886
Fryns Microphthalmia Syndrome
Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Albers-Schönberg Osteopetrosis
Optic atrophy, Mandibular osteomyelitis, Carious teeth, Hearing impairment, Osteomyelitis, Hydroc... ORPHA:53
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hydrocephalus OMIM:619470
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Conductive hearing impairment, Hearing impairment, Sensorineural hearin... OMIM:118100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Depressed nasal bridge, Abnormal auditory evoked potentials, Sensorineural h... OMIM:619260
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Hydrocephalus, Short nose, Macrotia OMIM:300558
Pallister-Hall Syndrome
Microglossia, Natal tooth, Cleft upper lip, Neonatal death, Holoprosencephaly, Cleft palate, Shor... OMIM:146510
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Umbilical hernia, Micrognathia, Hydrocephalus, Abnor... OMIM:130720
B4Galt1-Cdg
Low-set ears, Wide nasal bridge, Inflammatory abnormality of the skin, Elevated circulating creat... ORPHA:79332
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Depressed nasal bridge, Wide nasal bridge, Abnormal dental enamel morphology, Bulbo... ORPHA:2180
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Optic atrophy, Depressed nasal ridge, Mandibular prognathia, Nasal congestion,... OMIM:218400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Tented upper lip vermilion, Periventricular leukomalacia, Exaggerated cupid's b... OMIM:619833
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Failure of eruption of permanent teeth ORPHA:3238
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Lymphedema, Abnormal tympanic membrane morphology, Joint swelling,... ORPHA:66627
Microtia, Hearing Impairment, And Cleft Palate
Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove... OMIM:612290
Smith-Lemli-Opitz Syndrome
Wide nasal bridge, Ventriculomegaly, Microglossia, Long philtrum, Aplasia/Hypoplasia of the corpu... ORPHA:818
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Cl... OMIM:611134
Emanuel Syndrome
Low-set ears, Broad jaw, Ventriculomegaly, Hearing impairment, Recurrent otitis media, Oligohydra... OMIM:609029
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Depressed nasal bridge, Ventriculomegaly, Hydrocephalus OMIM:602501
Mogs-Cdg
Optic atrophy, Generalized edema, Decreased circulating IgG level, Edema, Retrognathia, Decreased... ORPHA:79330
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Blepharospasm, Hypoplasia of the maxilla, Conductive hearing impairm... ORPHA:794
Sotos Syndrome
Low-set ears, Depressed nasal bridge, Mandibular prognathia, Broad nasal tip, Conductive hearing ... OMIM:117550
Mosaic Variegated Aneuploidy Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of ... ORPHA:1052
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Overfolded helix, Supernumer... OMIM:617412
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Broad nasal tip, Micrognathia, Hydrocephalus, Overfolded helix, Chronic otitis ... OMIM:609757
Temple Syndrome
Depressed nasal bridge, Recurrent otitis media, Anteverted nares, Micrognathia, Hydrocephalus, Po... OMIM:616222
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Wide nasal bridge, Abnormal cortical gyration, Long philtrum, Polymicrogyria, Encephalocele, Exen... ORPHA:2211
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Conductive hearing impairment, Atresia of the external auditory canal, Anoti... OMIM:608257
Developmental And Epileptic Encephalopathy 65
Microcephaly, Ventriculomegaly, Tented upper lip vermilion, Cerebral atrophy OMIM:618008
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Cortical Dysplasia, Complex, With Other Brain Malformations 9
EEG abnormality, Optic atrophy, Hypsarrhythmia, Hydrocephalus OMIM:618174
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:610536
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Waardenburg Syndrome
Wide nasal bridge, Conductive hearing impairment, Hearing impairment, Underdeveloped nasal alae, ... ORPHA:3440
Monosomy 13Q14
Wide nasal bridge, Microcephaly, Holoprosencephaly, Hypoplasia of the corpus callosum ORPHA:1587
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Stenosis of the external audit... ORPHA:2878
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Conductive hearing impairment, Low-set, posteriorly... ORPHA:1307
Otofaciocervical Syndrome 1
Cupped ear, Conductive hearing impairment, Narrow nose, Mixed hearing impairment, Hypoplasia of t... OMIM:166780
Apert Syndrome
Optic atrophy, Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Delayed... ORPHA:87
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Dental crowding, Downturned corners of mouth, Widely spaced teeth, H... OMIM:301044
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Tented upper lip vermilion, Thin upper lip vermilion, Microcephaly,... OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
19P13.12 Microdeletion Syndrome
Low-set ears, Ventriculomegaly, Conductive hearing impairment, Narrow nasal bridge, Anteverted na... ORPHA:254346
Congenital Syphilis
Pneumonia, Optic atrophy, Keratitis, Hearing impairment, Hyperplasia of the maxilla, Large placen... ORPHA:499009
Distal Deletion 19P
Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ... ORPHA:96129
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Tented ... OMIM:614424
Edinburgh Malformation Syndrome
Low-set ears, Choanal atresia, Anteverted nares, Micrognathia, Hydrocephalus, Short nose ORPHA:1895
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Lon... OMIM:619244
Proximal 16P11.2 Microdeletion Syndrome
Ventriculomegaly, Conductive hearing impairment, Micrognathia, Sensorineural hearing impairment, ... ORPHA:261197
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Arthrogryposis, Distal, Type 2A
Wide nasal bridge, Abnormal auditory evoked potentials, Hearing impairment, Underdeveloped nasal ... OMIM:193700
Peho Syndrome
Optic atrophy, Ventriculomegaly, Anteverted nares, Peripheral edema, Hypsarrhythmia, EEG abnormal... ORPHA:2836
Meckel Syndrome 14
Holoprosencephaly, Occipital encephalocele OMIM:619879
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Conductive hearing impairment, Aplasia/Hypoplasia of the nasal bone, U... ORPHA:2095
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Wide nasal bridge, Conductive hearing impairment, Delayed eruption of teeth, Retrog... ORPHA:2780
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Kniest Dysplasia
Recurrent otitis media, Depressed nasal bridge, Conductive hearing impairment, Umbilical hernia OMIM:156550
Emanuel Syndrome
Low-set ears, Broad jaw, Ventriculomegaly, Hearing impairment, Delayed eruption of teeth, Recurre... ORPHA:96170
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Prominent nose, Sensorineural hearing impairment OMIM:604804
Pettigrew Syndrome
Optic atrophy, Ventriculomegaly, High-frequency hearing impairment, Prominent nose, Sensorineural... OMIM:304340
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Conductive hearing impairment, Broad columella, Eczematoid dermatitis, Un... ORPHA:1001
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Furrowed tongue, Enc... ORPHA:564
Carpenter Syndrome 1
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Depressed nasal bridge, Conductive hearin... OMIM:201000
Hennekam-Beemer Syndrome
Pneumonia, Optic atrophy, Wide nasal bridge, Ventriculomegaly, Conductive hearing impairment, Hea... ORPHA:2135
Stickler Syndrome, Type I
Depressed nasal bridge, Conductive hearing impairment, Anteverted nares, Micrognathia, Sensorineu... OMIM:108300
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Wide nasal bridge, Conductive hearing impairment, Lateral ventricle dilatation, Ste... OMIM:611209
Treacher Collins Syndrome 2
Choanal atresia, Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of th... OMIM:613717
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Umbilical hernia, Hydrocephalus... OMIM:601499
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Ventriculomegaly, Downturned corners of ... OMIM:619720
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Conductive hearing imp... ORPHA:443811
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Increased CSF protein concentration, Abnormal auditory evoked potenti... ORPHA:99027
Diabetic Embryopathy
Spinal dysraphism, Hearing impairment, Low-set, posteriorly rotated ears, Micrognathia, Hydroceph... ORPHA:1926
Cerebrooculonasal Syndrome
Low-set ears, Ventriculomegaly, Conductive hearing impairment, Proboscis, Anteverted nares, Promi... OMIM:605627
Immunodeficiency 23
Allergic rhinitis, Conductive hearing impairment, Chronic mucocutaneous candidiasis, Eczematoid d... OMIM:615816
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Skin rash, Abnormality of visual evoked p... OMIM:617523
Orofaciodigital Syndrome Ii
Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing impairment, Depre... OMIM:252100
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bifid uvula, Hypoplasia of the brainstem, Tented upper lip vermilion, Cerebellar hypoplasia, Micr... OMIM:618622
Achondroplasia
Depressed nasal bridge, Conductive hearing impairment, Recurrent otitis media, Choanal stenosis, ... OMIM:100800
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebellar vermis hypoplasia, Long philtrum, Hypoplasia of the brainstem, Tented upper lip vermil... OMIM:620001
Smith-Lemli-Opitz Syndrome
Wide nasal bridge, Bifid uvula, Global brain atrophy, Dental crowding, Microglossia, Long philtru... OMIM:270400
Proboscis Lateralis
Abnormal corpus callosum morphology, Ventriculomegaly, Long philtrum, Orofacial cleft, Agenesis o... ORPHA:141099
Cerebrofacioarticular Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Ventriculomegaly, Conductive hearing impairment, Bi... ORPHA:314679
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Long philtrum, Tented upper lip vermilion, Hypoplasia of the corpus... OMIM:614105
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Pontocerebellar Hypoplasia, Type 14
Dystonia, Hydrocephalus OMIM:619301
Diamond-Blackfan Anemia 10
Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:613309
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Umbilical hernia, Anteverted nares, Sensorineural hearing impairment, Hydrocephalus... OMIM:612938
Hydrolethalus
Low-set ears, Retrognathia, Low-set, posteriorly rotated ears, Micrognathia, Abnormality of the s... ORPHA:2189
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Cerebral cortical atrophy, Downturned corners of mouth, Cleft upper lip, Tente... OMIM:239300
Shprintzen-Goldberg Syndrome
Low-set ears, Hypoplasia of the maxilla, Ventriculomegaly, Conductive hearing impairment, Retrogn... ORPHA:2462
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Conductive hearing impairment, ... OMIM:616835
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hydrocephalus OMIM:619302
Optic Pathway Glioma
Vertigo, Optic atrophy, Papilledema, Hydrocephalus ORPHA:2086
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy OMIM:613807
Congenital Sialidosis Type 2
Low-set ears, Optic atrophy, Hearing impairment, Umbilical hernia, Ascites, Hydrocephalus, Edema ORPHA:93400
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Increased CSF protein concentration, ... ORPHA:206443
Isotretinoin Embryopathy-Like Syndrome
Anotia, Hydrocephalus, Microtia OMIM:243440
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment OMIM:135100
Oculodentodigital Dysplasia
Optic atrophy, Carious teeth, Conductive hearing impairment, Hearing impairment, Abnormality of t... ORPHA:2710
Congenital Disorder Of Glycosylation, Type Iit
Low-set ears, Prominent nasal bridge, Posteriorly rotated ears, Conductive hearing impairment OMIM:618885
Leukocyte Adhesion Deficiency Type Ii
Wide nasal bridge, Depressed nasal ridge, Recurrent pneumonia, Depressed nasal bridge, Conductive... ORPHA:99843
Meckel Syndrome, Type 5
Cleft palate, Occipital encephalocele, Cleft upper lip, Anencephaly OMIM:611561
Alkuraya-Kucinskas Syndrome
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Micrognathia, Pleural e... OMIM:617822
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Simple ear, Micrognathia, Conductive hearing impairment, Atresia of the external auditory canal OMIM:602471
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Reduced cerebral white matter volume, Parietal cortical atrophy, Lateral ventricle dilatation, Th... OMIM:620075
Isolated Arrhinia
Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy... ORPHA:1134
Achondroplasia
Depressed nasal bridge, Hearing impairment, Functional abnormality of the middle ear, Anteverted ... ORPHA:15
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Umbilical hernia ORPHA:380
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Atresia of the external aud... OMIM:620186
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Mixed hearing impairment, Congenital sensorineural hearing impairment ORPHA:2698
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Umbilical hernia, Hypogonadism, ... ORPHA:2990
Multiple Pterygium-Malignant Hyperthermia Syndrome
Conductive hearing impairment, Abnormal mandible morphology, Abnormal circulating creatine kinase... ORPHA:2215
Mucopolysaccharidosis Type 3
Optic atrophy, Ventriculomegaly, Conductive hearing impairment, Hearing impairment, Aspiration pn... ORPHA:581
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Ventriculomegaly, Hydrocephalus OMIM:304100
Hennekam Syndrome
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Erysipela... ORPHA:2136
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Everted lower lip vermilion, Short philtrum, Cleft palate OMIM:616898
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Male hypogonadism, Chronic mucocutaneous candidiasis, Tympanosclerosis, Prema... OMIM:240300
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Hypoplasia of the maxilla, Conductive hearing impairment, Dental malocclusion, Umbi... OMIM:182212
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Depressed nasal bridge, Hydrocephalus ORPHA:2635
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Depressed nasal bridge, Hearing impairment, Recurrent otitis media, Neona... OMIM:616482
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Hearing impairment, Hypoplasia of the primary teeth, Abnormalit... ORPHA:90321
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Conductive hearing impairment, Hearing impairment OMIM:616229
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Stenosis of the external auditory canal, Micrognathia, Sensorineural hearing impairment, Mixed he... OMIM:606164
Cockayne Syndrome A
Irregular menstruation, Optic atrophy, Ventriculomegaly, Abnormal auditory evoked potentials, Car... OMIM:216400
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Choanal atresia, Anosmia, Conductive hearing impairment, Atresia of the external a... OMIM:603457
Rhyns Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:602152
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Microretrognathia, Ventriculo... ORPHA:261344
Congenital Muscular Dystrophy, Fukuyama Type
EEG abnormality, Optic atrophy, Ventriculomegaly, Hydrocephalus ORPHA:272
Glycosylphosphatidylinositol Biosynthesis Defect 11
Wide nasal bridge, Umbilical hernia, Tented upper lip vermilion, Macroglossia, High palate OMIM:616025
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Increased circulating ferritin concentration, Head titubation, Absent brainste... ORPHA:3240
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Ventriculomegaly, Bulbous nose, Sensorineural hearing impairment, Colpocephaly, Hy... OMIM:615219
Fraser Syndrome 3
Low-set ears, Ascites, Oligohydramnios, Micrognathia, Nonimmune hydrops fetalis, Simple ear, Hydr... OMIM:617667
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpo... OMIM:616034
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Low-set ears, Depressed nasal bridge, Mild hearing impairment, Micrognathia, Hydrocephalus, Tubul... ORPHA:459061
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Choanal atresia, Depressed nasal bridge, Hypop... ORPHA:1555
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Hearing impairment, Anteverted nares, Hydr... OMIM:272200
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Low-set, posteriorly rotated ears, Encephalo... ORPHA:391474
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Waardenburg Syndrome Type 1
Wide nasal bridge, Cleft upper lip, Tented upper lip vermilion, Spina bifida, Meningocele, Cleft ... ORPHA:894
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Ventriculomegaly, Hearing impairment, Increased nuchal translucency, Hydr... ORPHA:1860
Codas Syndrome
Depressed nasal bridge, Crumpled ear, Ventriculomegaly, Conductive hearing impairment, Delayed er... OMIM:600373
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Infantile Sialic Acid Storage Disease
Ascites, Anteverted nares, Hydrops fetalis, Hydrocephalus OMIM:269920
Craniometaphyseal Dysplasia, Autosomal Dominant
Nasal congestion, Bony paranasal bossing, Mixed hearing impairment, Facial palsy, Mandibular prog... OMIM:123000
Multiple Sulfatase Deficiency
Depressed nasal bridge, Optic atrophy, Anteverted nares, Abnormality of peripheral nerve conducti... ORPHA:585
Van Maldergem Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairme... OMIM:615546
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Monosomy 18Q
Depressed nasal bridge, Bilateral conductive hearing impairment, Bulbous nose, Decreased circulat... ORPHA:1600
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Low-set ears, Choanal atresia, Recurrent pneumonia, Cupped ear, Retrognathia, Optic disc coloboma... OMIM:300472
Branchio-Oculo-Facial Syndrome
Wide nasal bridge, Broad nasal tip, Conductive hearing impairment, Low-set, posteriorly rotated e... ORPHA:1297
Renpenning Syndrome
Heterotaxy ORPHA:3242
Charge Syndrome
Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Narrow mouth, Microcephaly, Aplasia... ORPHA:138
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Hearing impairment, Delayed eruption of teeth, Umbilical hernia, Recurrent o... OMIM:309900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Cerebral calcification, Tented upper lip vermilion, Agenesis of corpus callosum... OMIM:618476
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Hydrocephalus OMIM:248000
Fanconi Anemia, Complementation Group I
Colpocephaly, Conductive hearing impairment, Optic nerve hypoplasia OMIM:609053
ERI1-related disease
Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Micrognathia, Macrotia OMIM:608739
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Low-set ears, Depressed nasal bridge, Hearing impairment, Micrognathia, Prominent nasal bridge, H... OMIM:619951
Retinitis Pigmentosa
Optic atrophy, Conductive hearing impairment, Hypogonadism, Sensorineural hearing impairment, Opt... ORPHA:791
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Depressed nasal ridge, Hydrocephalus, Short nose OMIM:300863
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Ventriculomegaly, Anteverted nares, Micrognathia, Hydrocephalus, Short nose OMIM:618577
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Tremor, Paroxysmal vertigo, Pulsatile t... ORPHA:276621
Aase-Smith Syndrome I
Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation OMIM:147800
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Low-set ears, Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Mixed hearing ... OMIM:608624
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Depressed nasal bridge, Umbilical hernia, Sensorineural hearing impairment, Hydroce... OMIM:612582
Multiple Synostoses Syndrome 1
Wide nasal bridge, Hypoplastic nasal septum, Bilateral conductive hearing impairment, Conductive ... OMIM:186500
Pontocerebellar Hypoplasia, Type 7
Low-set ears, Optic atrophy, Wide nasal bridge, Broad nasal tip, Ventriculomegaly, Micrognathia, ... OMIM:614969
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Wide nasal bridge, Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic... OMIM:613603
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Wide nasal bridge, Conductive hearing impairment, Natal tooth, Dental malocclusion,... OMIM:300373
Chromosome 13Q33-Q34 Deletion Syndrome
Wide nasal bridge, Cleft lip, Delayed eruption of teeth, Gingival overgrowth, Tented upper lip ve... OMIM:619148
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Increased CSF protein concentration, ... ORPHA:206448
Kapur-Toriello Syndrome
Low-set ears, Bulbous nose, Low hanging columella, Conductive hearing impairment OMIM:244300
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Optic atrophy, Hypoplasia of the maxilla, Broad nasal tip, Dental maloccl... OMIM:101800
Icf Syndrome
Low-set ears, Depressed nasal bridge, Umbilical hernia, Micrognathia, Communicating hydrocephalus... ORPHA:2268
Trisomy 17P
Low-set ears, Hearing impairment, Thick nasal alae, Prominent nose, Micrognathia, Hydrocephalus, ... ORPHA:261290
Van Maldergem Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the exter... OMIM:601390
Giant Cell Arteritis
Optic atrophy, Epistaxis, Conductive hearing impairment, Hearing impairment, Vertigo, Arthritis, ... ORPHA:397
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:141333
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Depressed nasal bridge, Recurrent pneumonia, Premature osteoarthritis, Bulbous nose, Micrognathia... OMIM:215150
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Increased CSF protein ... ORPHA:206436
Cerebrocostomandibular Syndrome
Hydranencephaly, Conductive hearing impairment, Atresia of the external auditory canal, Myelomeni... ORPHA:1393
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Semilobar holoprosencephaly, Cleft upper lip, Selective tooth agenesis, Oligodonti... OMIM:129900
Lowry-Maclean Syndrome
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, Retrognathia, Micrognathia, Delayed eru... ORPHA:2409
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Depressed nasal ridge, Micrognathia, Hydrocephalus, Short nose ORPHA:163966
Oculodentodigital Dysplasia
Carious teeth, Conductive hearing impairment, Underdeveloped nasal alae, Narrow nose, Narrow nasa... OMIM:164200
Joubert Syndrome
Low-set ears, Anteverted nares, Prominent nasal bridge, Encephalocele, Tremor, Aganglionic megaco... ORPHA:475
Treacher-Collins Syndrome
Blepharospasm, Choanal atresia, Hypoplasia of the maxilla, Wide nasal bridge, Conductive hearing ... ORPHA:861
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Multiple impacted teeth, Conductive hearing impairment, Short nose OMIM:311300
Mucopolysaccharidosis Type 1
Optic atrophy, Depressed nasal bridge, Hearing impairment, Thick nasal alae, Sensorineural hearin... ORPHA:579
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Hypoplasia of the zygomatic bone, Retrogn... ORPHA:1812
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Encephalocele, Tremo... ORPHA:220497
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Papilledema, Hydrocephalus OMIM:260500
Ritscher-Schinzel Syndrome 1
Low-set ears, Depressed nasal bridge, Micrognathia, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Raine Syndrome
Low-set ears, Choanal atresia, Depressed nasal bridge, Mandibular prognathia, Natal tooth, Microg... OMIM:259775
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Carious teeth, Facial paralysis, Hearing impairment, Osteomyelitis, Hydrocephalus,... OMIM:259700
Fraser Syndrome 1
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Cupped ear, Atresia of the external audi... OMIM:219000
Foxg1 Syndrome Due To 14Q12 Microdeletion
Tented upper lip vermilion, Agenesis of corpus callosum, Microcephaly, Smooth philtrum, Everted l... ORPHA:261144
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Low-set ears, Ventriculomegaly, Retrognathia, Micrognathia, Colpocephaly, Hydrocephalus OMIM:620156
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Wide nasal bridge, Abnormality of the outer ear, Depressed nasal bridge, Broad nasal tip, Promine... ORPHA:466943
Fg Syndrome Type 1
Choanal atresia, Ventriculomegaly, Optic nerve hypoplasia, Cupped ear, Umbilical hernia, Stenosis... ORPHA:93932
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Hydrocephalus, Sensorineural hearing impairment OMIM:615249
Coccidioidomycosis
Hearing impairment, Hypoglycorrhachia, Morbilliform rash, Erythema nodosum, Pleural empyema, Foll... ORPHA:228123
Marshall-Smith Syndrome
Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Aspiration pneumonia, ... OMIM:602535
Down Syndrome
Depressed nasal ridge, Depressed nasal bridge, Conductive hearing impairment, Umbilical hernia, D... ORPHA:870
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus, Abnormal location of ears OMIM:218350
Trisomy 8P
Depressed nasal bridge, Recurrent upper respiratory tract infections, Conductive hearing impairme... ORPHA:264450
Tetrasomy 15Q26
Low-set ears, Microretrognathia, Cupped ear, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Wide nasal bridge, Carious teeth, Cupped ear, Dental malocclusion, Microretrognathi... OMIM:615560
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus ORPHA:83473
Czeizel-Losonci Syndrome
Hypoplastic helices, Low-set, posteriorly rotated ears, Myelomeningocele, Micrognathia, Spina bif... ORPHA:2437
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hearing impairment, Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malf... ORPHA:1647
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Cupped ear, Retrognathia, Micrognathia, Sensorineural he... ORPHA:314588
Hemangioblastoma
Vertigo, Hydrocephalus ORPHA:252054
L1 Syndrome
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus ORPHA:275543
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Inflammation of the large intestine, Ventriculomegaly, Decreased specific anti-pol... OMIM:614576
Trisomy 10P
Low-set ears, Depressed nasal bridge, Abnormal auditory evoked potentials, Abnormality of the nos... ORPHA:171929
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Hydrocephalus OMIM:613155
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Umbilical hernia,... OMIM:607014
Beemer-Ertbruggen Syndrome
Wide nasal bridge, Low-set, posteriorly rotated ears, Bulbous nose, Micrognathia, Communicating h... ORPHA:1237
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Hearing impairment, Umbilical hernia, Recurrent oti... OMIM:253220
Postaxial Acrofacial Dysostosis