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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
Intrauterine growth retardation, Short stature OMIM:135950
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Holoprosencephaly 5
Semilobar holoprosencephaly, Orofacial cleft, Alobar holoprosencephaly, Hydrocephalus, Syntelence... OMIM:609637
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Microcephaly, Cerebral cortical atrophy, Holoprosencephaly ORPHA:2523
Microhydranencephaly, X-Linked
Microcephaly, Holoprosencephaly OMIM:306990
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Acalvaria
Hydrocephalus, Spina bifida, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Deafness, Conductive, With Malformed External Ear
Abnormal pinna morphology, Low-set ears, Abnormality of the middle ear ossicles, Conductive heari... OMIM:221300
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Holoprosencephaly 11
Microcephaly, Cleft palate, Holoprosencephaly, Agenesis of corpus callosum, Cleft lip OMIM:614226
Mental retardation, x-linked, syndromic, Turner type
Macrocephaly, Holoprosencephaly OMIM:300706
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Bilateral cleft palate, Cleft upper lip, Holoprosencephaly, Bilateral cle... OMIM:601357
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference OMIM:619033
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Aplas... ORPHA:1908
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Microphthalmia/Coloboma 5
Orofacial cleft, Holoprosencephaly OMIM:611638
Hartsfield Syndrome
Encephalocele, Non-midline cleft of the upper lip, Lobar holoprosencephaly, Cleft palate, Aplasia... ORPHA:2117
Distal Monosomy 7Q36
Non-midline cleft of the upper lip, Microcephaly, Cleft palate, Holoprosencephaly, Wide mouth ORPHA:1636
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... ORPHA:2182
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Cleft palate, Holoprosencephaly, Median cleft upper lip ORPHA:2165
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Pineocytoma
Hydrocephalus, Hearing abnormality, 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
Widely spaced teeth, Short philtrum, High palate, Microcephaly, Cleft upper lip, Cleft palate, Ho... OMIM:612530
Craniodiaphyseal Dysplasia
Optic atrophy, Stenosis of the external auditory canal, Conductive hearing impairment, Wide nasal... ORPHA:1513
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, Alobar holoprosencephaly, High palate, Agenesis of corpus callosum, Ventriculomegaly OMIM:615433
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Microcephaly, Cerebral cortical atrophy, Holoprosencephaly, Aplasia/Hypoplasia o... ORPHA:2570
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Hearing impairment, EEG abnormality ORPHA:1008
Monosomy 18P
Short philtrum, Tooth malposition, Microcephaly, Carious teeth, Downturned corners of mouth, Clef... ORPHA:1598
Triploidy
Macrocephaly, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Narrow mouth, Cleft... ORPHA:3376
16P13.11 Microdeletion Syndrome
Short nose, Exaggerated cupid's bow, Microcephaly, Cleft upper lip, Cleft palate, Holoprosencepha... ORPHA:261236
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Meningocele ORPHA:588
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Solitary Median Maxillary Central Incisor
Solitary median maxillary central incisor, Prominent median palatal raphe, Microcephaly, Cleft up... OMIM:147250
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Distal Deletion 13Q
Anencephaly, Encephalocele, Microcephaly, Holoprosencephaly, Aplasia/Hypoplasia of the corpus cal... ORPHA:1590
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly, Severe sensorineural hearing impairment OMIM:604213
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Conductive hearing impairment, Ventriculomegaly ORPHA:85179
Holoprosencephaly 14
Aqueductal stenosis, Macrocephaly, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker malforma... OMIM:619895
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Thanatophoric Dysplasia Type 2
Macrocephaly, Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Lambotte Syndrome
Microcephaly, Semilobar holoprosencephaly, Narrow mouth OMIM:245552
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Microform Holoprosencephaly
Short nose, Orofacial cleft, Solitary median maxillary central incisor, Short philtrum, Microceph... ORPHA:280200
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Periventricular Nodular Heterotopia 9
Hypoplasia of the corpus callosum, Everted upper lip vermilion, Polymicrogyria, Gingival overgrow... OMIM:618918
Microcephaly 29, Primary, Autosomal Recessive
Primary microcephaly, Simplified gyral pattern, Hypoplastic philtrum OMIM:620047
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Holoprosencephaly 7
Solitary median maxillary central incisor, Bilateral cleft palate, Microcephaly, Unilateral cleft... OMIM:610828
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Short nose, Microcephaly, Lobar holoprosencephaly, Velopharyngeal insuffic... OMIM:614701
Ring Chromosome 21 Syndrome
Microcephaly, Holoprosencephaly ORPHA:1445
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Agnathia-Otocephaly Complex
Narrow mouth, Cleft palate, Holoprosencephaly, Agenesis of corpus callosum, Microglossia, Aglossia OMIM:202650
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Microtia, Conductive hearing impairment, Micrognathia, Wide nasal bridge, Underdeveloped nasal alae OMIM:248910
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Holoprosencephaly 3
Solitary median maxillary central incisor, Microcephaly, Cleft palate, Bifid uvula, Holoprosencep... OMIM:142945
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Tremor, Increased CSF protein concentration, Elevated circulati... OMIM:619473
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Recurrent otitis media, Decreased circulating antibody level, Low-set ears, Conductiv... OMIM:616910
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Optic atrophy ORPHA:1538
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft palate, Median cleft upper lip OMIM:142946
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Anteverted nares, Dystonia, Choreoathetosis OMIM:618497
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Polymicrogyria, Median cleft palate, Microcephaly, Cleft upper lip,... OMIM:264480
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:108760
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Cleft palate, Holoprosencephaly, Thick vermilion border ORPHA:250999
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Infertility, Bronchiectasis, Conductive hearing impairment, Rhinitis, Absen... OMIM:618063
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop... ORPHA:79113
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hypsarrhythmia, Anteverted nares, Hydrocephalus, Low-set ears, Microretrognathia OMIM:300884
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, Bulbous nose, EEG with generalized epileptiform discharges OMIM:617976
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thick lower lip vermilion, High palate, Short upper lip, Hypoplastic philtrum, Microcephaly, Prot... OMIM:309580
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Treacher Collins Syndrome 4
Conductive hearing impairment, Micrognathia, Choanal stenosis OMIM:618939
Fried Syndrome
Hearing impairment, Macrotia, Hydrocephalus ORPHA:85335
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Holoprosencephaly, Agenesis of corpus callosum, Microglossia, Aplasia/Hypoplasia of... ORPHA:990
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Median cleft palate, Absent septum pellucidu... OMIM:612651
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Oculoauriculofrontonasal Syndrome
Encephalocele, Wide nose, Microtia, Bifid nasal tip, Conductive hearing impairment, Micrognathia,... ORPHA:398156
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Chronic rhinitis, Conductive hearing impairment, Recurrent pneumonia, Bro... OMIM:616726
Frontonasal Dysplasia 1
Bifid nasal tip, Low-set ears, Anterior basal encephalocele, Hypoplasia of the maxilla, Conductiv... OMIM:136760
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Congenital Hydrocephalus
Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Posteriorly rotated ears, Colpoce... ORPHA:2185
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr... ORPHA:3236
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,... OMIM:301043
Crouzon Syndrome
Optic atrophy, Hydrocephalus, Choanal atresia, Hearing impairment, Conductive hearing impairment,... ORPHA:207
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Inflammatory abnormality of the eye, Hydrocephalus, Choanal atresia, Hypoplasia of... ORPHA:93262
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Abnormal antihelix morphology, Conductive hearing impairment, Micrognathia, ... ORPHA:3145
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, EEG with burst suppression OMIM:266100
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... 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
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment OMIM:610738
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Choreoatheto... OMIM:617519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Lissencephaly, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Hypop... OMIM:253800
Otofaciocervical Syndrome
Abnormal antihelix morphology, Anteverted nares, Atresia of the external auditory canal, Macrotia... ORPHA:2792
Microtia-Anotia
Holoprosencephaly OMIM:600674
Ramon Syndrome
Abnormal dental enamel morphology, Sensorineural hearing impairment, Conductive hearing impairmen... ORPHA:3019
Iniencephaly
Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Narrow mou... ORPHA:63259
Holoprosencephaly 9
Thin corpus callosum, Solitary median maxillary central incisor, Optic nerve hypoplasia, Bilatera... OMIM:610829
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Sensorineural hearing impairment, Facial palsy, Conductive hea... ORPHA:1522
Holoprosencephaly-Craniosynostosis Syndrome
Microcephaly, Holoprosencephaly ORPHA:2163
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Microcephaly, Macrocephaly, Hypoplastic philtrum OMIM:616682
Halperin-Birk Syndrome
Semilobar holoprosencephaly, High palate, Colpocephaly, Thick vermilion border, Agenesis of corpu... OMIM:618651
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum ORPHA:77298
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Stenosis of the external auditory canal, Low-set ears, Micrognathia, Umbilical her... ORPHA:1516
Burn-Mckeown Syndrome
Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Mandibular prognathia, Choanal atr... OMIM:608572
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory can... ORPHA:100084
Gómez-López-Hernández Syndrome
Hydrocephalus, Anteverted nares, Low-set ears ORPHA:1532
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Low-set, posteriorly rotated ears, Spina bifida occulta, Sensorineura... ORPHA:949
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Optic atrophy, Sensorineural hearing impairment, Anteverted nares, Mandibular prognathia, Low-set... OMIM:618672
Primary Ciliary Dyskinesia
Chronic otitis media, Male infertility, Recurrent otitis media, Hydrocephalus, Nasal congestion, ... ORPHA:244
Hypertelorism-Microtia-Facial Clefting Syndrome
Microtia, Bifid nasal tip, Atresia of the external auditory canal, Conductive hearing impairment,... ORPHA:2213
Zechi-Ceide Syndrome
Abnormal earlobe morphology, Wide nose, Stenosis of the external auditory canal, Abnormal helix m... ORPHA:217017
Craniotelencephalic Dysplasia
Optic atrophy, Low-set, posteriorly rotated ears, Hydrocephalus, Septo-optic dysplasia, Frontal e... ORPHA:1528
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft upper lip, Cleft palate, Microcephaly ORPHA:398189
Steinfeld Syndrome
Median cleft palate, Bifid uvula, Holoprosencephaly, Median cleft upper lip, Aplasia of the nose OMIM:184705
Mandibulofacial Dysostosis With Alopecia
Stenosis of the external auditory canal, Microtia, Low-set ears, Hypoplasia of the maxilla, Condu... OMIM:616367
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... OMIM:609166
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Encephalocele, Hydrocephalus, Narrow mouth, Microcephaly, Cleft palate, Holopros... ORPHA:2166
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Absent outer dynein arms, Male infertility, Anosmia, Chronic rhinitis, Bron... OMIM:244400
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Short nose, Hydrocephalus, Anteverted nares, Microtia, Choanal atresia, Myelomenin... ORPHA:1914
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Hemifacial Microsomia With Radial Defects
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Short mandibular... OMIM:141400
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Optic atrophy, Hearing impairment OMIM:615191
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Depressed nasal ridge, Communicating hydrocephalus ORPHA:1861
Anencephaly 2
Median cleft palate, Cleft maxillary alveolar ridge, Anencephaly, Median cleft upper lip OMIM:619452
Auriculocondylar Syndrome 3
Retrognathia, Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Q... OMIM:615706
Short-Rib Thoracic Dysplasia 12
Macrocephaly, Anencephaly, Hydrocephalus, Median cleft palate, Neonatal death, Holoprosencephaly,... OMIM:269860
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent otitis media, Aspiration pneu... ORPHA:99772
Parietal Foramina 1
Cleft upper lip, Macrocephaly, Cleft palate, Encephalocele OMIM:168500
Stapes Ankylosis With Broad Thumbs And Toes
Long nose, Low hanging columella, Conductive hearing impairment, Congenital stapes ankylosis, Sta... OMIM:184460
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment, Hyposmia OMIM:607842
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Oculoskeletodental Syndrome
Retrognathia, Sensorineural hearing impairment, Thick nasal alae, Hearing impairment, Conductive ... ORPHA:557003
Trisomy 18
Narrow palate, Short nose, Anencephaly, Non-midline cleft of the upper lip, Narrow mouth, Spina b... ORPHA:3380
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Mandibular prognathia, Hearin... OMIM:182290
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Coffin-Siris Syndrome 6
Retrognathia, Low-set ears, Conductive hearing impairment, Micrognathia, Posteriorly rotated ears... OMIM:617808
Hartsfield Syndrome
Semilobar holoprosencephaly, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Cle... OMIM:615465
49,Xxxxy Syndrome
Hypoplasia of the corpus callosum, Delayed eruption of teeth, Abnormal dental enamel morphology, ... 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
Low-set, posteriorly rotated ears, Anteverted nares, Abnormality of the middle ear, Atresia of th... ORPHA:1488
Alopecia Antibody Deficiency
Abnormality of dental color, Conductive hearing impairment, Decreased circulating antibody level ORPHA:1006
Johnson Neuroectodermal Syndrome
Microtia, Facial palsy, Anosmia, Choanal atresia, Atresia of the external auditory canal, Conduct... ORPHA:2316
Joubert Syndrome 10
Conductive hearing impairment, Polyhydramnios, Low-set ears, 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
Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impairment OMIM:214300
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Hypoplasia of the nasal bone, Abnormal vestibular function OMIM:606943
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Solitary median maxillary central incisor, High palate, Holoprosence... ORPHA:556955
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Congenital Toxoplasmosis
Hearing impairment, Ventriculomegaly, Ascites, Hydrocephalus ORPHA:858
Branchiootic Syndrome 1
Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears,... OMIM:602588
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Microcephaly, Olivopont... ORPHA:468631
Holoprosencephaly
Macrocephaly, Solitary median maxillary central incisor, Aplasia/Hypoplasia of the corpus callosu... ORPHA:2162
6P22 Microdeletion Syndrome
Hydrocephalus, Hearing impairment, Low-set ears, Overfolded helix ORPHA:251046
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Micrognathia, Hypoplasia of the zygomatic bone OMIM:248390
Aicardi-Goutieres Syndrome 4
Hydrocephalus, CSF lymphocytic pleiocytosis, Low-set ears, Dystonia, Convex nasal ridge, Ventricu... OMIM:610333
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Hypoplasia of the corpus callosum, Semilobar holoprosencephaly, High palate, Microcephaly, Lobar ... OMIM:618500
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Abnormality of the inner ear, Sensorineural hearing impairment, Microtia, ... ORPHA:2549
Holoprosencephaly 1
Alobar holoprosencephaly, Median cleft palate, Microcephaly, Ethmocephaly, Agenesis of corpus cal... OMIM:236100
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Micrognathia OMIM:300946
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Orofacial cleft, Microcephaly, Holoprosencephaly, Median cleft upper lip, Aplasia of the nose ORPHA:3186
Abruzzo-Erickson Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Macrotia ORPHA:921
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment, Carious teeth ORPHA:1997
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Hydr... OMIM:245200
Diencephalic Syndrome
Hydrocephalus, Macrotia, Optic atrophy ORPHA:1672
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Hypertelorism, Microtia, Facial Clefting Syndrome
Microtia, Atresia of the external auditory canal, Conductive hearing impairment, Micrognathia, Br... OMIM:239800
Isolated Cleft Lip
Chronic otitis media, Supernumerary maxillary incisor, Polyhydramnios, Abnormal Eustachian tube m... ORPHA:199302
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:109120
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Wide nasal bridge, Hydrocephalus, Hypoplasia of the maxilla OMIM:618302
Trichorhinophalangeal Syndrome Type 2
Supernumerary tooth, Low-set, posteriorly rotated ears, Thick nasal alae, Conductive hearing impa... ORPHA:502
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Low-set, posteriorly rotated ears, Hydrocephalus, Anteverted nares, Hearing impairmen... ORPHA:2701
Ring Chromosome 7 Syndrome
Thin vermilion border, Short nose, Short philtrum, Narrow mouth, Median cleft palate, Microcephal... ORPHA:1449
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Papillary Tumor Of The Pineal Region
Hydrocephalus, Hearing abnormality, Increased CSF protein concentration ORPHA:251915
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Mandibula... ORPHA:3082
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Branchial anomaly, Conductiv... ORPHA:1131
Chromosome 13Q14 Deletion Syndrome
Hypoplasia of the corpus callosum, High palate, Everted lower lip vermilion, Deep philtrum, Holop... OMIM:613884
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Short philtrum, Hydrocephalus, Cerebral calcification, Dandy-Walker m... OMIM:617281
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Postural tremor, Hand tremor ORPHA:99947
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
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Short nose, Short philtrum, Cerebral cortical atrophy, Tented ... ORPHA:85277
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Thin corpus callosum, Microcephaly, Cleft palate, Tented upper lip vermilion, Lateral... OMIM:615716
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus ORPHA:73256
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Short nose, Hydrocephalus, Undetectable visual evoked potentials, Dandy-Walker malf... ORPHA:163961
Holoprosencephaly 2
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,... OMIM:157170
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Microtia, Abnormality of the middle ear, Conductive hearing im... ORPHA:246
Cleft Lip/Palate
Recurrent otitis media, Peg-shaped maxillary lateral incisors, Hypoplasia of the maxilla, Conduct... ORPHA:199306
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment OMIM:133705
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele, Optic atrophy ORPHA:352682
Jacobsen Syndrome
Short nose, Macrocephaly, Hydrocephalus, Microcephaly, Holoprosencephaly, U-Shaped upper lip verm... OMIM:147791
Houge-Janssens Syndrome 2
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Tented upper lip vermilion, Agene... OMIM:616362
Genitourinary And/Or Brain Malformation Syndrome
Secondary microcephaly, Dysplastic corpus callosum, Short nose, Macrocephaly, Polymicrogyria, Hol... OMIM:618820
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Dysplastic cor... OMIM:616900
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Intellectual Developmental Disorder, Autosomal Dominant 65
Short philtrum, Thick upper lip vermilion, Downturned corners of mouth, Tented upper lip vermilio... OMIM:619320
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Arachnoid Cyst
Encephalocele, Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Holoprosencephaly, En... ORPHA:2356
Crouzon Syndrome
Optic atrophy, Deviated nasal septum, Hydrocephalus, Mandibular prognathia, Atresia of the extern... OMIM:123500
Phaver Syndrome
Aplasia/Hypoplasia of the earlobes, Low-set ears, Myelomeningocele, Conductive hearing impairment... ORPHA:2876
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hydrocephalus, Anteverted nares, Microtia, Low-set ears, Micrognathia, Umbilical hern... ORPHA:171839
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Micrognathia, Azoospermia OMIM:601076
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Larsen-Like Syndrome
Recurrent otitis media, Low-set ears, Conductive hearing impairment, Dental malocclusion, Absent ... OMIM:608545
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Low hanging columella, Hydrocephalus, Optic nerve hypoplasia, Mandibular prognathia... OMIM:620157
Radio-Tartaglia Syndrome
Retrognathia, Anteverted nares, Prominent nasal tip, Tremor, Low-set ears, Hearing impairment, Co... OMIM:619312
Rabin-Pappas Syndrome
Retrognathia, Low hanging columella, Hydrocephalus, Sensorineural hearing impairment, Optic nerve... OMIM:620155
Smith-Magenis Syndrome
Chronic otitis media, Short nose, Anteverted nares, Mandibular prognathia, Conductive hearing imp... ORPHA:819
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Long philtrum, Tented upper lip vermilion, Lateral ventricle dilatation, Short corpus callosum OMIM:619972
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Spina bifida occulta, Anterior open-bite malocclusion, Anteverted nares, Low-set ears... OMIM:617877
Lateral Meningocele Syndrome
Meningocele, Sensorineural hearing impairment, Low-set ears, Abnormality of the middle ear ossicl... ORPHA:2789
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Thanatophoric Dysplasia
Polyhydramnios, Hydrocephalus, Low-set ears, Increased nuchal translucency, Hearing impairment, V... ORPHA:2655
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Kbg Syndrome
Anteverted nares, Bilateral conductive hearing impairment, Macrotia, Prominent nasal bridge, EEG ... ORPHA:2332
Bor Syndrome
Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, A... ORPHA:107
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Non-Functioning Paraganglioma
Tremor, Cranial nerve compression, Conductive hearing impairment, Paroxysmal vertigo, Pulsatile t... ORPHA:94080
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Orofaciodigital Syndrome Xiv
Hypoplasia of the corpus callosum, Occipital encephalocele, Supernumerary tooth, Cerebellar vermi... OMIM:615948
Acrootoocular Syndrome
Grayish enamel, Supernumerary tooth, Wide nasal base, Abnormal earlobe morphology, Delayed erupti... ORPHA:2980
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Spina bifida occulta, Delayed eruption of teeth, Conical incisor, Sensorineural hea... OMIM:235510
Arachnoiditis
Hydrocephalus, Hearing impairment, Tinnitus ORPHA:137817
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Hydrocephalus, Vertigo, Abnormal pinna morphology, Severe sensorineura... OMIM:614195
Marshall-Smith Syndrome
Optic atrophy, Retrognathia, Short nose, Anteverted nares, Choanal atresia, Conductive hearing im... ORPHA:561
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Robinow Syndrome, Autosomal Dominant 2
Short nose, Mixed hearing impairment, Sensorineural hearing impairment, Anteverted nares, Hearing... OMIM:616331
Isolated Exencephaly
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:563612
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Low-set ears, Dilated fourth ventricle, Microretrognath... OMIM:220220
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Conductive hearing impairment OMIM:607634
Schisis Association
Anencephaly, Encephalocele, Spina bifida, Microcephaly, Cleft palate, Unilateral cleft lip ORPHA:63862
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Low-set ears, Hearing impairment, N... ORPHA:85284
Adams-Oliver Syndrome 2
Optic atrophy, Hydrocephalus, Low-set ears, Micrognathia, Lateral ventricle dilatation, Protrudin... OMIM:614219
Mucolipidosis Type Iii Alpha/Beta
Recurrent otitis media, Sensorineural hearing impairment, Conductive hearing impairment, Umbilica... ORPHA:423461
Kleeblattschaedel
Hydrocephalus OMIM:148800
Chromosome 18Q Deletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Stenosis of the external auditory canal, Mandibu... OMIM:601808
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Interictal epileptiform activity, Bilateral conductive hearing impairment, Low-set ea... OMIM:617802
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrotia OMIM:300886
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Fryns Microphthalmia Syndrome
Bilateral cleft palate, Neural tube defect, Bilateral cleft lip OMIM:600776
Albers-Schönberg Osteopetrosis
Optic atrophy, Hydrocephalus, Arthritis, Facial palsy, Hearing impairment, Carious teeth, Osteoar... ORPHA:53
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Optic atrophy OMIM:619470
Klippel-Feil Syndrome 1, Autosomal Dominant
Hearing impairment, Sensorineural hearing impairment, Mixed hearing impairment, Conductive hearin... OMIM:118100
Intellectual Developmental Disorder, X-Linked 30
Short nose, Hydrocephalus, Anteverted nares, Macrotia, Prominent nasal bridge OMIM:300558
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic... OMIM:619260
Pallister-Hall Syndrome
Short nose, Cleft upper lip, Neonatal death, Holoprosencephaly, Cleft palate, Natal tooth, Microg... OMIM:146510
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Low-set ears, Abnormality of the middle ear ossicles, Conductive hear... OMIM:130720
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation, Low-set ears, Elevated circulating creatine kinase conc... ORPHA:79332
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Abnormal dental enamel morphology, Anteverted nares, Mandibular prognathia, Low-se... ORPHA:2180
Craniometaphyseal Dysplasia, Autosomal Recessive
Optic atrophy, Mixed hearing impairment, Bony paranasal bossing, Mandibular prognathia, Facial pa... OMIM:218400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular leukomalacia, Short nose, Thin corpus callosum, Hydrocephalus, Exaggerated cupid'... OMIM:619833
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Failure of eruption of permanent teeth ORPHA:3238
Tenosynovial Giant Cell Tumor
Lymphedema, Abnormal auditory canal morphology, Conductive hearing impairment, Abnormal tympanic ... ORPHA:66627
Smith-Lemli-Opitz Syndrome
Supernumerary tooth, Advanced eruption of teeth, Abnormal dental enamel morphology, Gingival over... ORPHA:818
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l... OMIM:612290
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-... OMIM:611134
Emanuel Syndrome
Chronic oral candidiasis, Recurrent otitis media, Torticollis, Broad jaw, Low hanging columella, ... OMIM:609029
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Ventriculomegaly, Hydrocephalus, Depressed nasal bridge OMIM:602501
Mogs-Cdg
Optic atrophy, Retrognathia, Pulmonary edema, Polyhydramnios, Wide nose, Sensorineural hearing im... ORPHA:79330
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Saethre-Chotzen Syndrome
Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna mo... ORPHA:794
Sotos Syndrome
Advanced eruption of teeth, Anteverted nares, Mandibular prognathia, Low-set ears, Macrotia, Cond... OMIM:117550
Mosaic Variegated Aneuploidy Syndrome
Dandy-Walker malformation, Microcephaly, Cleft palate, Holoprosencephaly, Ventriculomegaly, Aplas... ORPHA:1052
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Low-set ears, Conductive hearing impairment, Overfolded helix, Depressed nas... OMIM:617412
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Hydrocephalus, Micrognathia, Broad nasal tip, Ventriculomegaly, Overfolded ... OMIM:609757
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Encephalocele, Polymicrogyria, Pachygyria, Long philtrum, Lissencepha... ORPHA:2211
Temple Syndrome
Recurrent otitis media, Wide nose, Hydrocephalus, Anteverted nares, Micrognathia, Posteriorly rot... OMIM:616222
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Stenosis of the external auditory canal, Atresia of the external auditory canal, Conductive heari... OMIM:608257
Developmental And Epileptic Encephalopathy 65
Cerebral atrophy, Ventriculomegaly, Tented upper lip vermilion, Microcephaly OMIM:618008
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, EEG abnormality, Hypsarrhythmia, Optic atrophy OMIM:618174
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Anteverted nares, Microtia, Low-set ears, Choanal atresia, Atresia of the external au... OMIM:610536
Waardenburg Syndrome
Aganglionic megacolon, Myelomeningocele, Hearing impairment, Conductive hearing impairment, Promi... ORPHA:3440
Monosomy 13Q14
Microcephaly, Holoprosencephaly, Wide nasal bridge, Hypoplasia of the corpus callosum ORPHA:1587
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Abnormal nostril morphology, Aplasia/Hypoplasia of the earlobes, Stenosis of the external auditor... ORPHA:2878
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypoplasia of the maxilla, C... ORPHA:1307
Otofaciocervical Syndrome 1
Mixed hearing impairment, Hypoplasia of the cochlea, Conductive hearing impairment, Narrow nose, ... OMIM:166780
Apert Syndrome
Optic atrophy, Delayed eruption of teeth, Hydrocephalus, Sensorineural hearing impairment, Mandib... ORPHA:87
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin corpus callosum, Microcephaly, Tented upper lip vermilion, Lateral ventricle dilatation, Par... OMIM:619517
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypoplasia of the corpus callosum, Semilobar holoprosencephaly, Short nose, Widely spaced teeth, ... OMIM:301044
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Sensorineural hearing impairment, Abnormal pinna morphology, Anteverted nare... ORPHA:254346
Congenital Syphilis
Myocarditis, Optic atrophy, Large placenta, Hyperplasia of the maxilla, Pancreatitis, Hydrops fet... ORPHA:499009
Distal Deletion 19P
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Decreased circulating antibo... ORPHA:96129
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Atresia of the external auditory canal, Bilateral conductive hearing impairment ORPHA:2010
Joubert Syndrome 14
Hypoplasia of the corpus callosum, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malfor... OMIM:614424
Edinburgh Malformation Syndrome
Short nose, Hydrocephalus, Anteverted nares, Low-set ears, Choanal atresia, Micrognathia ORPHA:1895
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Short philtrum, High palate, Dilated third ventricle, Corpus callosum atrophy, ... OMIM:619244
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Micrognathia, Dystonia, Ventricu... ORPHA:261197
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Arthrogryposis, Distal, Type 2A
Short nose, Polyhydramnios, Spina bifida occulta, Mandibular prognathia, Abnormal auditory evoked... OMIM:193700
Peho Syndrome
Optic atrophy, Short nose, Palpebral edema, Hypsarrhythmia, Anteverted nares, Abnormal pinna morp... ORPHA:2836
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly OMIM:619879
Gorlin-Chaudhry-Moss Syndrome
Aplasia/Hypoplasia of the nasal bone, Conductive hearing impairment, Hypoplasia of the maxilla, U... ORPHA:2095
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Spina bifida occulta, Delayed eruption of teeth, Low-set ears, Facial palsy, Conduc... ORPHA:2780
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media, Depressed nasal bridge, Umbilical hernia OMIM:156550
Emanuel Syndrome
Recurrent otitis media, Broad jaw, Delayed eruption of teeth, Low hanging columella, Hydrocephalu... ORPHA:96170
Microcephaly 3, Primary, Autosomal Recessive
Prominent nose, Sensorineural hearing impairment, Mixed hearing impairment OMIM:604804
Pettigrew Syndrome
Optic atrophy, Aqueductal stenosis, Hydrocephalus, Sensorineural hearing impairment, Mandibular p... OMIM:304340
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
2Q37 Microdeletion Syndrome
Anteverted nares, Underdeveloped nasal alae, Eczematoid dermatitis, Conductive hearing impairment... ORPHA:1001
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Furrowed tongue, Microcepha... ORPHA:564
Carpenter Syndrome 1
Optic atrophy, Spina bifida occulta, Sensorineural hearing impairment, Abnormal pinna morphology,... OMIM:201000
Hennekam-Beemer Syndrome
Optic atrophy, Long nose, Wide nose, Microtia, Hearing impairment, Conductive hearing impairment,... ORPHA:2135
Stickler Syndrome, Type I
Sensorineural hearing impairment, Anteverted nares, Arthritis, Conductive hearing impairment, Mic... OMIM:108300
Treacher Collins Syndrome 2
Retrognathia, Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impair... OMIM:613717
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Mandibular prognathia, Hearing impairment, Hypoplasia of the maxilla, Umbilical he... OMIM:601499
Congenital Disorder Of Glycosylation, Type Iig
Stenosis of the external auditory canal, Microtia, Anteverted nares, Low-set ears, Conductive hea... OMIM:611209
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Thin corpus callosum, Macrocephaly, Ventriculomegaly, Cerebellar vermis hypoplasia, Exaggerated c... OMIM:619720
Pgm3-Cdg
Chronic otitis media, Increased circulating IgG level, Sensorineural hearing impairment, Increase... ORPHA:443811
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Adult-Onset Autosomal Dominant Leukodystrophy
Erectile dysfunction, Orthostatic hypotension, Sensorineural hearing impairment, Tremor, Abnormal... ORPHA:99027
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Hydrocephalus, Microtia, Hearing impairment, Micrognathia, Spi... ORPHA:1926
Cerebrooculonasal Syndrome
Short nose, Proboscis, Encephalocele, Hydrocephalus, Optic nerve hypoplasia, Anteverted nares, Da... OMIM:605627
Immunodeficiency 23
Increased circulating IgG level, Sensorineural hearing impairment, Chronic mucocutaneous candidia... OMIM:615816
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Skin rash, Abnormal auditory evoked potentials, Optic di... OMIM:617523
Orofaciodigital Syndrome Ii
Hydrocephalus, Bifid nasal tip, Agenesis of central incisor, Hypoplasia of the maxilla, Conductiv... OMIM:252100
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Progressive microcephaly, Microcephaly, Bifid uvula, Deep ... OMIM:618622
Achondroplasia
Polyhydramnios, Recurrent otitis media, Hydrocephalus, Conductive hearing impairment, Choanal ste... OMIM:100800
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Short philtrum, Cerebellar vermis hypoplasia, High palate, Microcepha... OMIM:620001
Smith-Lemli-Opitz Syndrome
Hypoplasia of the corpus callosum, Global brain atrophy, Hydrocephalus, Dandy-Walker malformation... OMIM:270400
Proboscis Lateralis
Orofacial cleft, Macrocephaly, Agenesis of canine, Optic nerve hypoplasia, Abnormal corpus callos... ORPHA:141099
Cerebrofacioarticular Syndrome
Bilateral choanal atresia/stenosis, Microtia, Lymphedema, Hypoplasia of the maxilla, Conductive h... ORPHA:314679
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Short nose, Thin corpus callosum, Short philtrum, High palate,... OMIM:614105
Diamond-Blackfan Anemia 10
Microtia, Low-set ears, Choanal atresia, Hearing impairment, Atresia of the external auditory can... OMIM:613309
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Dystonia OMIM:619301
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Hydrocephalus, Sensorineural hearing impairment, Anteverted nares, Dandy-Walker mal... OMIM:612938
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Short philtrum, Hydrocephalus, Cerebral cortical atrophy, Cleft upper lip, Downturned... OMIM:239300
Hydrolethalus
Retrognathia, Polyhydramnios, Anencephaly, Low-set, posteriorly rotated ears, Hydrocephalus, Low-... ORPHA:2189
Shprintzen-Goldberg Syndrome
Retrognathia, Anteverted nares, Low-set ears, Communicating hydrocephalus, Hypoplasia of the maxi... ORPHA:2462
Meier-Gorlin Syndrome 6
Short nose, Stenosis of the external auditory canal, Microtia, Anteverted nares, Underdeveloped n... OMIM:616835
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Dystonia OMIM:619302
Optic Pathway Glioma
Hydrocephalus, Vertigo, Optic atrophy, Papilledema ORPHA:2086
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy OMIM:613807
Congenital Sialidosis Type 2
Optic atrophy, Hydrocephalus, Low-set ears, Ascites, Hearing impairment, Umbilical hernia, Edema ORPHA:93400
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Microtia, Anotia OMIM:243440
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment OMIM:135100
Oculodentodigital Dysplasia
Optic atrophy, Abnormality of the nose, Short nose, Narrow nasal bridge, Anteverted nares, Abnorm... ORPHA:2710
Congenital Disorder Of Glycosylation, Type Iit
Low-set ears, Conductive hearing impairment, Prominent nasal bridge, Posteriorly rotated ears OMIM:618885
Leukocyte Adhesion Deficiency Type Ii
Palpebral edema, Recurrent otitis media, Severe periodontitis, Small earlobe, Microtia, Mandibula... ORPHA:99843
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft palate, Anencephaly, Cleft upper lip OMIM:611561
Alkuraya-Kucinskas Syndrome
Short nose, Hydrocephalus, Anteverted nares, Dandy-Walker malformation, Low-set ears, Pleural eff... OMIM:617822
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Atresia of the external auditory canal, Conductive hearing impairment, Micrognathia, Simple ear OMIM:602471
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin corpus callosum, Thick lower lip vermilion, Everted lower lip vermilion, Reduced cerebral wh... OMIM:620075
Isolated Arrhinia
Midline defect of the nose, Microtia, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal... ORPHA:1134
Achondroplasia
Hydrocephalus, Anteverted nares, Hearing impairment, Functional abnormality of the middle ear, Sh... ORPHA:15
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Umbilical hernia ORPHA:380
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Choanal atresia, Atresia of the external auditory canal, Cari... OMIM:620186
Autosomal Recessive Multiple Pterygium Syndrome
Hearing abnormality, Spina bifida occulta, Low-set ears, Hearing impairment, Conductive hearing i... ORPHA:2990
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Mixed hearing impairment, Congenital sensorineural hearing impairment ORPHA:2698
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Polyhydramnios, Conductive hearing impairment, Prominent nasal bridge... ORPHA:2215
Mucopolysaccharidosis Type 3
Chronic otitis media, Optic atrophy, Mixed hearing impairment, Adenoiditis, Hydrocephalus, Sensor... ORPHA:581
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Aganglionic megacolon OMIM:304100
Hennekam Syndrome
Retrognathia, Supernumerary tooth, Hydrops fetalis, Delayed eruption of teeth, Chylothorax, Abnor... ORPHA:2136
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Cleft palate, Tented upper lip vermilion, Cleft lip OMIM:616898
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Premature ovarian insufficiency, Chronic active hepatitis, Chronic muco... OMIM:240300
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Anteverted nares, Abnormal pinna morphology, Low-set ears, Hypoplasia of the maxil... OMIM:182212
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Recurrent otitis media, Irregular menstruation, Hydrocephalus, Hearing impairment, Neonatal death... OMIM:616482
Metatropic Dysplasia
Hydrocephalus, Low-set, posteriorly rotated ears, Depressed nasal bridge ORPHA:2635
Cockayne Syndrome Type 1
Optic atrophy, Hypoplasia of the primary teeth, Mandibular prognathia, Tremor, Absent brainstem a... ORPHA:90321
Osteogenesis Imperfecta, Type Xvi
Hearing impairment, Conductive hearing impairment, Microretrognathia OMIM:616229
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Stenosis of the external au... OMIM:606164
Cockayne Syndrome A
Optic atrophy, Normal pressure hydrocephalus, Decreased nerve conduction velocity, Slender nose, ... OMIM:216400
Bosma Arhinia Microphthalmia Syndrome
Abnormal pinna morphology, Absent tragus, Anosmia, Choanal atresia, Atresia of the external audit... OMIM:603457
Rhyns Syndrome
Sensorineural hearing impairment, Conductive hearing impairment OMIM:602152
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Wide nose, Hydrocephalus, Low-set ears, Increased nuchal translu... ORPHA:261344
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly, EEG abnormality, Optic atrophy ORPHA:272
Glycosylphosphatidylinositol Biosynthesis Defect 11
High palate, Tented upper lip vermilion, Umbilical hernia, Macroglossia, Wide nasal bridge OMIM:616025
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Absent brainstem auditory responses, Head titubation, Vestibular areflexia, In... ORPHA:3240
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Communicating hydrocephalus, Post... OMIM:615219
Fraser Syndrome 3
Stillbirth, Wide nose, Hydrocephalus, Low-set ears, Ascites, Micrognathia, Nonimmune hydrops feta... OMIM:617667
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Mild hearing impairment, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Tubulointerstiti... ORPHA:459061
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Dystonia... OMIM:616034
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Hearing abnormality, Aplasia/Hypoplasia of the earlobes, Anteverted nares, Hydroce... ORPHA:1555
Frontorhiny
Low-set, posteriorly rotated ears, Encephalocele, Midline nasal groove, Hypoplasia of the maxilla... ORPHA:391474
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Multiple Sulfatase Deficiency
Hydrocephalus, Anteverted nares, Increased CSF protein concentration, Hearing impairment, Periorb... OMIM:272200
Waardenburg Syndrome Type 1
Short nose, Meningocele, Spina bifida, Cleft upper lip, Cleft palate, Tented upper lip vermilion,... ORPHA:894
Codas Syndrome
Polyhydramnios, Delayed eruption of teeth, Sensorineural hearing impairment, Anteverted nares, Co... OMIM:600373
Thanatophoric Dysplasia Type 1
Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Hearing impairment, Ventriculomegal... ORPHA:1860
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Infantile Sialic Acid Storage Disease
Hydrocephalus, Anteverted nares, Hydrops fetalis, Ascites OMIM:269920
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Bony paranasal bossing, Mandibular prognathia, Facial palsy, Nasal cong... OMIM:123000
Multiple Sulfatase Deficiency
Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Anteverted nares, Abnormality of ... ORPHA:585
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Microtia, Stenosis of the external auditory canal, Hearing impa... OMIM:615546
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Monosomy 18Q
Hydrocephalus, Sensorineural hearing impairment, Mandibular prognathia, Bilateral conductive hear... ORPHA:1600
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Low-set ears, Choanal a... OMIM:300472
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Conductive hearing impairment, Broa... ORPHA:1297
Renpenning Syndrome
Heterotaxy ORPHA:3242
Charge Syndrome
Aqueductal stenosis, Delayed eruption of teeth, Abnormal soft palate morphology, Dandy-Walker mal... ORPHA:138
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Mucopolysaccharidosis, Type Ii
Recurrent otitis media, Delayed eruption of teeth, Hydrocephalus, Hearing impairment, Papilledema... OMIM:309900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hyperintensity of cerebral white matter on MRI, Macrocephaly, Hydrocephalus, Cerebral calcificati... OMIM:618476
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Optic atrophy OMIM:248000
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Optic nerve hypoplasia, Colpocephaly OMIM:609053
ERI1-related disease
Low-set ears, Macrotia, Micrognathia, Conductive hearing impairment, Depressed nasal bridge OMIM:608739
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Low-set ears, Hearing impairment, Micrognathia, Prominent nasal bridge, Posteriorl... OMIM:619951
Retinitis Pigmentosa
Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Hypogonadism, Opt... ORPHA:791
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hydrocephalus, Anteverted nares, Micrognathia, Ventriculomegaly, Wide nasal bridge OMIM:618577
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Short nose, Low-set ears, Depressed nasal ridge OMIM:300863
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Cranial nerve compression, Conductive hearing impairment, Paroxysmal vertigo, Pulsatile t... ORPHA:276621
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Abnormal pinna morphology OMIM:147800
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Mixed hearing impairment, Anteverted nares, Underdeveloped nasal alae, Low-set ears, Thickened he... OMIM:608624
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Sensorineural hearing impairment, Dandy-Walker malformation, Low-set ears, Posteri... OMIM:612582
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Bilateral conductive hearing impairment, Conductive hearing impairment,... OMIM:186500
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Hydrocephalus, Low-set ears, Macrotia, Micrognathia, Broad nasal tip, Opisthotonus... OMIM:614969
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Spina bifida occulta, Hydrocephalus, Microtia, Low-set ears, Facial palsy, Conduc... OMIM:300373
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Aganglionic megacolon, Polyhydramnios, Hydrocephalus, Microtia, Mandibular prognathia... OMIM:613603
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Anencephaly, Encephalocele, Short philtrum, Delayed eruption of teeth... OMIM:619148
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality, Erectile dysfunction... ORPHA:206448
Kapur-Toriello Syndrome
Conductive hearing impairment, Bulbous nose, Low-set ears, Low hanging columella OMIM:244300
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Delayed eruption of teeth, Hydrocephalus, Anteverted nares, Mandibular prognathia,... OMIM:101800
Icf Syndrome
Decreased circulating antibody level, Low-set ears, Communicating hydrocephalus, Micrognathia, Um... ORPHA:2268
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Microtia, Atresia of the external auditory canal, Conductive he... OMIM:601390
Trisomy 17P
Wide nose, Hydrocephalus, Low-set ears, Thick nasal alae, Hearing impairment, Micrognathia, Promi... ORPHA:261290
Giant Cell Arteritis
Optic atrophy, Recurrent pharyngitis, Vertigo, Arthritis, Hearing impairment, Conductive hearing ... ORPHA:397
Biemond Syndrome Type 2
Hydrocephalus, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment, Anteverted nares, Micrognathia, Recur... OMIM:215150
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Atresia of the external auditory ca... ORPHA:1393
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly, Absence of Stensen duct, Oligodontia, Selective tooth agenesis, Micr... OMIM:129900
Lowry-Maclean Syndrome
Retrognathia, Short nose, Hydrocephalus, Low-set ears, Choanal atresia, Talon cusp, Hypoplasia of... ORPHA:2409
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Hydrocephalus, Low-set ears, Depressed nasal ridge, Micrognathia ORPHA:163966
Oculodentodigital Dysplasia
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Abnormal pinna morpholo... OMIM:164200
Joubert Syndrome
Aganglionic megacolon, Encephalocele, Hydrocephalus, Anteverted nares, Tremor, Low-set ears, Prom... ORPHA:475
Treacher-Collins Syndrome
Retrognathia, Encephalocele, Abnormal dental enamel morphology, Microtia, Abnormality of the midd... ORPHA:861
Otopalatodigital Syndrome, Type I
Conductive hearing impairment, Short nose, Multiple impacted teeth, Wide nasal bridge OMIM:311300
Mucopolysaccharidosis Type 1
Chronic otitis media, Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Thick nasal... ORPHA:579
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Anteverte... ORPHA:220497
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Short nose, Polyhydramnios, Hydrocephalus, Abnormal dental enamel morphology, Low-s... ORPHA:1812
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma, Papilledema OMIM:260500
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Low-set ears, Micrognathia, Depressed nasal bridge OMIM:220210
Raine Syndrome
Short nose, Mixed hearing impairment, Hydrocephalus, Abnormal pinna morphology, Mandibular progna... OMIM:259775
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hydrocephalus, Facial palsy, Hearing impairment, Carious teeth, Facial paralysis, ... OMIM:259700
Fraser Syndrome 1
Abnormal middle ear morphology, Encephalocele, Cleft ala nasi, Wide nose, Hydrocephalus, Abnormal... OMIM:219000
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Everted lower lip vermilion, Microcephaly, Tented upper lip vermilion, Agenesis of co... ORPHA:261144
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Retrognathia, Hydrocephalus, Low-set ears, Micrognathia, Colpocephaly, Ventriculomegaly OMIM:620156
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Posteriorly rotated ears, Broad ... ORPHA:466943
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Fg Syndrome Type 1
Hydrocephalus, Sensorineural hearing impairment, Microtia, Stenosis of the external auditory cana... ORPHA:93932
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re... OMIM:616881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Sensorineural hearing impairment, Elevated circulating creatine kinase concentration OMIM:615249
Coccidioidomycosis
Skin rash, Pericarditis, Erythema nodosum, Morbilliform rash, Increased circulating IgG level, Hy... ORPHA:228123
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Optic nerve hypoplasia, Recurrent aspiration pneumonia, Umbi... OMIM:602535
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Down Syndrome
Short nose, Aganglionic megacolon, Round ear, Depressed nasal ridge, Conductive hearing impairmen... ORPHA:870
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Abnormal location of ears OMIM:218350
Trisomy 8P
Retrognathia, Short nose, Abnormal middle ear morphology, Hydrocephalus, Anteverted nares, Dandy-... ORPHA:264450
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation, Low-set ears, Microretrognathia, Cupped ear OMIM:614846
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Low-set ears, Carious teeth, Microretrognathia, Conjunctivitis, Dental ... OMIM:615560
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal nasal morphology, Depressed nasal bridge ORPHA:83473
Czeizel-Losonci Syndrome
Hypoplastic helices, Low-set, posteriorly rotated ears, Spina bifida occulta, Hydrocephalus, Myel... ORPHA:2437
Oculocerebrocutaneous Syndrome
Hydrocephalus, Dandy-Walker malformation, Abnormal pinna morphology, Hearing impairment, Ventricu... ORPHA:1647
Distal Triplication 15Q
Retrognathia, Hydrocephalus, Sensorineural hearing impairment, Abnormal helix morphology, Microti... ORPHA:314588
Hemangioblastoma
Hydrocephalus, Vertigo ORPHA:252054
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Aganglionic megacolon ORPHA:275543
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Trisomy 10P
Abnormality of the nose, Retrognathia, Short nose, Low voltage EEG, EEG with focal spikes, Anteve... ORPHA:171929
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Retrognathia, Decreased specific anti-polysaccharide antibody level, Hydrocephalus... OMIM:614576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Facial palsy OMIM:613155
Hurler Syndrome
Recurrent otitis media, Hydrocephalus, Anteverted nares, Hearing impairment, Broad nasal tip, Umb... OMIM:607014
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Communicating hydrocephalus, Micrognathia, Bulbous nose, Wide ... ORPHA:1237
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Hydrops fetalis, Hydrocephalus, Sensorineural hearing impairment, Hearing... OMIM:253220
Postaxial Acrofacial Dysostosis
Low-set ears, Choanal atresia, Conductive hearing impairment, Micrognathia, Cupped ear OMIM:263750
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Tremor, Conductive hearing impairment, Micrognathia, Prominent... ORPHA:2754
H Syndrome
Recurrent pharyngitis, Azoospermia, Hydrocephalus, Chronic rhinitis, Hearing impairment, Hypogona... ORPHA:168569
Muenke Syndrome
Hydrocephalus, Sensorineural hearing impairment ORPHA:53271
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Mixed hearing impairment OMIM:126550
Hajdu-Cheney Syndrome
Wide nose, Hydrocephalus, Anteverted nares, Low-set ears, Conductive hearing impairment, Microgna... OMIM:102500
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Anteverte... ORPHA:220493
Rhombencephalosynapsis
Short nose, Aganglionic megacolon, Low-set, posteriorly rotated ears, Hydrocephalus, Anteverted n... ORPHA:59315
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Mixed hearing impairment, Polyhydramnios, Delayed eruption of teeth, Sensorineural hearing impair... OMIM:300990
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Encephalocele, Hydrocephalus, Low-set ears, Micrognathia, Posteriorly rotated ea... ORPHA:1865
Combined Pituitary Hormone Deficiencies, Genetic Forms
Optic nerve hypoplasia, Septo-optic dysplasia, Median cleft palate, Holoprosencephaly, Agenesis o... ORPHA:95494
Cockayne Syndrome B
Optic atrophy, Normal pressure hydrocephalus, Decreased nerve conduction velocity, Slender nose, ... OMIM:133540
Mucolipidosis Type Ii
Sensorineural hearing impairment, Conductive hearing impairment, Otitis media, Umbilical hernia, ... ORPHA:576
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Hip osteoarthritis, Wide nose, Sensorineural ... ORPHA:580
Dural Sinus Malformation
Ear pain, Hydrocephalus, Papilledema, Cerebral edema, Pulsatile tinnitus, Myelopathy ORPHA:97339
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Cleft upper lip, Cleft palate OMIM:612284
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Hydrocephalus, Microtia, Hearing impairment, Atresia of the external auditory ca... ORPHA:268249
Fanconi Anemia, Complementation Group F
Pneumonia, Conductive hearing impairment, Microtia, Polyhydramnios OMIM:603467
Warburg-Cinotti Syndrome
Underdeveloped nasal alae, Low-set ears, Atresia of the external auditory canal, Conductive heari... OMIM:618175
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Con... ORPHA:306542
Thoracoabdominal Syndrome
Hydrocephalus, Cleft upper lip, Cleft palate, Anencephaly OMIM:313850
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Hydrocephalus, Anteverted nares, Microtia, Bilateral sensori... ORPHA:2306
Orofaciodigital Syndrome Vi
Low-set ears, Conductive hearing impairment, Micrognathia, Occipital meningocele, Broad nasal tip... OMIM:277170
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Cranial nerve compression, Conductive hearing impairment, Paroxysmal vertigo, Pulsatile t... ORPHA:29072
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Thin corpus callosum, Cerebral calcification, Everted lower lip vermilion, Corpus callosum atroph... OMIM:620371
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Pericarditis, Oligohydramnios ORPHA:163596
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Abnormal dental enamel morpholo... ORPHA:1946
Methylcobalamin Deficiency Type Cble
Hearing impairment, Ventriculomegaly, Hydrocephalus ORPHA:2169
Intellectual Developmental Disorder, Autosomal Dominant 73
Long nose, Retrognathia, Recurrent otitis media, Wide nose, Anteverted nares, Microtia, Low-set e... OMIM:620450
Baller-Gerold Syndrome
Short nose, Narrow nasal bridge, Conductive hearing impairment, Micrognathia, Prominent nasal bridge ORPHA:1225
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Stillbirth, Short nose, Abnormal earlobe morphology, Abnormal antihelix morphology, Stenosis of t... ORPHA:95699
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Bilateral choanal atresia, Atresia of the external auditory canal, Conductive hearing impairment,... OMIM:106260
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Anteverted nares, Spina bifida, Posteriorly rotated ears, Prominent nasal bridge, ... OMIM:613776
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Secondary amenorrhea, Otosclerosis, Microtia, Micrognathia, Wide nasal br... ORPHA:529962
Griscelli Syndrome
Encephalocele, Hydrocephalus, Decreased circulating antibody level, Ascites, Hepatitis, Pedal edema ORPHA:381
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Anteverte... ORPHA:2318
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
22Q11.2 Deletion Syndrome
Chronic otitis media, Small earlobe, Seborrheic dermatitis, Umbilical hernia, Optic atrophy, Agan... ORPHA:567
Acrofacial Dysostosis 1, Nager Type
Retrognathia, Aqueductal stenosis, Aganglionic megacolon, Hydrocephalus, Temporomandibular joint ... OMIM:154400
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Functioning Gonadotropic Adenoma
Hydrocephalus, Infertility, Oligozoospermia, Impotence, Ascites, Abnormality of the menstrual cyc... ORPHA:91348
Cornelia De Lange Syndrome 1
Optic atrophy, Delayed eruption of teeth, Sensorineural hearing impairment, Anteverted nares, Low... OMIM:122470
Pycnodysostosis
Convex nasal ridge, Obtuse angle of mandible, Persistence of primary teeth, Hypoplasia of the max... ORPHA:763
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Umbilical hernia OMIM:175700
3C Syndrome
Optic atrophy, Short nose, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Micrognathia, ... ORPHA:7
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short nose, Hydrocephalus, Micrognathia, Depressed nasal bridge OMIM:241800
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Short nose, Polyhydramnios, Dental malocclusion, Hydrocephalus, Anteverted... OMIM:115150
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Polyhydramnios, Hydrocephalus, Microtia, Septo-optic dysplasia, Micrognathia, Apla... ORPHA:3301
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Mixed hearing impairment, Polyhydramnios, Conductive hearing impairment, High-frequency sensorine... OMIM:614557
15Q Overgrowth Syndrome
Retrognathia, Mixed hearing impairment, Low-set, posteriorly rotated ears, Hydrocephalus, Dandy-W... ORPHA:314585
47,Xyy Syndrome
Male infertility, Azoospermia, Hydrocephalus, Low-set ears, Oligozoospermia ORPHA:8
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Hearing impairment, Hypogonadism, Ventriculomegaly ORPHA:500055
Vacterl With Hydrocephalus
Retrognathia, Aqueductal stenosis, Polyhydramnios, Hydrocephalus, Microtia, third degree, Spina b... ORPHA:3412
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Left Isomerism OMIM:618300
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Larsen Syndrome
Conductive hearing impairment, Depressed nasal bridge ORPHA:503
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Tetrasomy 5P
Short nose, Hydrocephalus, Anteverted nares, Low-set ears, Micrognathia, Posteriorly rotated ears... ORPHA:3309
Septopreoptic Holoprosencephaly
Megalencephaly, Abnormal septum pellucidum morphology, Ethmoidal encephalocele, Abnormal corpus c... ORPHA:280195
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Fanconi Anemia, Complementation Group B
Hydrocephalus, Low-set ears, Hypergonadotropic hypogonadism, Hypogonadism, Ventriculomegaly, Over... OMIM:300514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retrognathia, Encephalocele, Hydrocephalus, Optic nerve hypoplasia, Microtia, Dandy-Walker malfor... OMIM:614643
Orofaciodigital Syndrome Type 4
Retrognathia, Short nose, Wide nose, Microtia, third degree, Low-set ears, Choanal atresia, Depre... ORPHA:2753
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Pallister-Hall Syndrome
Short nose, Macrocephaly, Abnormal basal ganglia MRI signal intensity, Abnormal corpus callosum m... ORPHA:672
Pfeiffer Syndrome Type 2
Short nose, Aqueductal stenosis, Hydrocephalus, Low-set ears, Choanal atresia, Atresia of the ext... ORPHA:93259
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Chronic rhinitis due to narrow nasal airway, Hydrocephalus, Mandibular prognathia,... OMIM:259710
Kabuki Syndrome
Hydrocephalus, Sensorineural hearing impairment, Conductive hearing impairment, Macrotia, Protrud... ORPHA:2322
Multiple Pterygium Syndrome, Escobar Variant
Hydrops fetalis, Exostosis of the external auditory canal, Low-set ears, Conductive hearing impai... OMIM:265000
Congenital Myopathy 13
Conductive hearing impairment, Micrognathia, Low-set ears, Ventriculomegaly OMIM:255995
Mosaic Variegated Aneuploidy Syndrome 1
Short nose, Wide nose, Hydrocephalus, Anteverted nares, Dandy-Walker malformation, Low-set ears, ... OMIM:257300
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia, Dilated fourth ven... ORPHA:370959
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polyhydramnios, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Micrognathia, Ventricu... OMIM:225790
Desmosterolosis
Abnormality of the nose, Retrognathia, Short nose, Abnormal earlobe morphology, Low-set, posterio... ORPHA:35107
Isolated Posterior Meningocele
Increased head circumference, Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocel... ORPHA:268810
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short nose, Keratoconjunctivitis sicca, Hypsarrhythmia, Sensorineural hearing impairment, Mandibu... OMIM:616007
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Microtia, Micrognathia, Oligohydramnios ORPHA:1834
Hypoplasminogenemia
Periodontitis, Hydrocephalus, Dandy-Walker malformation, Abnormality of the middle ear, Decreased... ORPHA:722
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Low-set ears, Umbilical hernia, Wide nasal bridge, Depressed nasal bridge OMIM:104350
Walker-Warburg Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Posteriorly rotated ears, ... ORPHA:899
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Abnormal pinna morphology, Microtia, Spina bifida, Micrognathia ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Cutis Laxa, Autosomal Recessive, Type Iib
Protruding ear, Narrow nasal ridge, Bulbous nose, Hydrocephalus OMIM:612940
Frontometaphyseal Dysplasia
Mixed hearing impairment, Spina bifida occulta, Sensorineural hearing impairment, Hearing impairm... ORPHA:1826
Myopathy, Centronuclear, X-Linked
Polyhydramnios, Hydrocephalus, Dandy-Walker malformation, Facial palsy, Dental malocclusion OMIM:310400
Hyperparathyroidism, Transient Neonatal
Polyhydramnios, Anteverted nares, Low-set ears, Communicating hydrocephalus, Short nasal bridge, ... OMIM:618188
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment, Recurrent pneumonia OMIM:620012
Desmosterolosis
Short nose, Hydrocephalus, Anteverted nares, Low-set ears, Micrognathia, Posteriorly rotated ears... OMIM:602398
Craniopharyngioma
Optic atrophy, Abnormal nasal bone morphology, Vertigo, Hydrocephalus, Hearing impairment, Papill... ORPHA:54595
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Hydrocephalus, Sensorineural hearing impairment, Low-set ears, Dilated th... OMIM:619575
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Optic atrophy, Long nose, Short nose, Hydrocephalus, Low-set ears, Posteriorly rotated ears, Depr... OMIM:618590
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Torticollis, Sensorineural hearing impairment, Optic nerve hypopla... ORPHA:300570
Brittle Cornea Syndrome
Sensorineural hearing impairment, Conductive hearing impairment ORPHA:90354
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Conductive hearing impairment, Recurrent otitis media OMIM:250420
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios, Anencephaly, Hydrocephalus, Low-set ears, Occipital meningocele,... OMIM:616546
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Hydrocephalus, Anteverted nares, Choanal atresia, Atresia of the external auditory... OMIM:123790
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conductive hearing impairment, Micr... ORPHA:1071
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Stenosis of the external auditory canal, Low-set ears, Hearing im... OMIM:260660
Campomelic Dysplasia
Polyhydramnios, Hydrocephalus, Low-set ears, Depressed nasal ridge, Spina bifida, Hearing impairm... OMIM:114290
Aymé-Gripp Syndrome
Short nose, Hydrocephalus, Sensorineural hearing impairment, Microtia, Stenosis of the external a... ORPHA:1272
Osteootohepatoenteric Syndrome
Hearing impairment, Dehydration, Hydrocephalus OMIM:619377
Apert Syndrome
Chronic otitis media, Delayed eruption of teeth, Hydrocephalus, Mandibular prognathia, Choanal at... OMIM:101200
Faundes-Banka Syndrome
Long ear, Microtia, Low-set ears, Conductive hearing impairment, Micrognathia, Fetal ascites, Bul... OMIM:619376
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Stenosis of the external auditory canal, Abnormal pinna morphology, Choanal atresi... OMIM:207410
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Otopalatodigital Syndrome Type 2
Short nose, Encephalocele, Hydrocephalus, Abnormal pinna morphology, Low-set ears, Myelomeningoce... ORPHA:90652
Mend Syndrome
Abnormal nasal bridge morphology, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Abnorma... ORPHA:401973
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Wide nose, Sensorineural hearing impairment, Otosclerosis, Arthritis, Temporomandi... ORPHA:217085
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Anteverted nares, Tremor, Low-set ears, Prominent nasal b... ORPHA:1454
Genitopalatocardiac Syndrome
Hydrocephalus, Micrognathia, Low-set ears, Wide nasal bridge ORPHA:2075
Craniosynostosis And Dental Anomalies
Chronic otitis media, Supernumerary tooth, Wide nose, Absent malleus, Delayed eruption of teeth, ... OMIM:614188
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment OMIM:602080
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Mixed hearing impairment, Torticollis, Hydrocephalus, Anteverted nares, Low-set ears,... ORPHA:536467
Cockayne Syndrome Type 3
Keratoconjunctivitis sicca, Adult onset sensorineural hearing impairment, Intention tremor, Macro... ORPHA:90324
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Wide nose, Sensorineural hearing impairment, Otosclerosis, Arthritis, Temporomandi... ORPHA:217093
Fontaine Progeroid Syndrome
Short nose, Retrognathia, Hydrocephalus, Mandibular prognathia, Low-set ears, Conductive hearing ... OMIM:612289
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Anteverted nares, Low-set ears, Lateral ventricle dilatation, Cupped ear OMIM:612863
Frontometaphyseal Dysplasia 2
Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, Conductive hearing imp... OMIM:617137
Kyphoscoliotic Ehlers-Danlos Syndrome
Abnormal nasal bridge morphology, Sensorineural hearing impairment, Low-set ears, Hearing impairm... ORPHA:536545
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Calcification of the auricular cartilage, Conductive hearing impairment, Macrotia,... ORPHA:3042
Whipple Disease
Myocarditis, Erectile dysfunction, Pedal edema, Myositis, Arthritis, Hydrocephalus, Pericarditis,... ORPHA:3452
7Q11.23 Microduplication Syndrome
Chronic otitis media, Retrognathia, Abnormal columella morphology, Abnormal earlobe morphology, L... ORPHA:96121
Hurler Syndrome
Abnormal nerve conduction velocity, Hydrocephalus, Anteverted nares, Hearing impairment, Rhinitis... ORPHA:93473
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Microcephaly, Cleft palate, Tented upper lip vermilion, Ventriculomegaly, Wide nasal ... OMIM:614749
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Sensorineural hearing impairment, Branchial anomaly, Optic nerve hypoplasia, Increased nuchal tra... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Sensorineural hearing impairment, Branchial anomaly, Optic nerve hypoplasia, Increased nuchal tra... ORPHA:352665
Stromme Syndrome
Stillbirth, Hydrocephalus, Optic nerve hypoplasia, Low-set ears, Micrognathia, Prominent nasal br... OMIM:243605
Cardiofaciocutaneous Syndrome
Optic atrophy, Short nose, Low-set, posteriorly rotated ears, Hydrocephalus, Anteverted nares, Ly... ORPHA:1340
Medulloblastoma
Abnormal cranial nerve morphology, Vertigo, Hydrocephalus, Bilateral sensorineural hearing impair... ORPHA:616
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Larsen Syndrome
Hearing impairment, Conductive hearing impairment, Depressed nasal bridge, Spina bifida occulta OMIM:150250
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hearing impairment, Hydrocephalus ORPHA:2720
Basal Cell Nevus Syndrome 2
Hydrocephalus, Vertigo OMIM:620343
Fraser Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Cleft ala nasi, Abnormal pinna morphology, Micr... ORPHA:2052
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Delayed eruption of teeth, Hydrocephalus, Hearing impairment, Carious teeth,... OMIM:253200
Cryptococcosis
Prostatitis, Abnormal cranial nerve morphology, Hydrocephalus, Pleural effusion, Cerebral edema, ... ORPHA:1546
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Xerostomia, Mixed hearing impairment, Sensorineural hearing im... ORPHA:2363
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Retrognathia, Elevated circulating creatine kinase concentration, Cranial nerve co... ORPHA:2785
3Mc Syndrome 1
Hearing impairment, Conductive hearing impairment, Spina bifida occulta OMIM:257920
Hunter-Macdonald Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Premature osteoarthritis, Umbili... OMIM:611962
Opitz-Kaveggia Syndrome
Hydrocephalus, Sensorineural hearing impairment, Choanal atresia, Simple ear, Microtia, first deg... OMIM:305450
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Aprosencephaly OMIM:601374
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Delayed eruption of teeth, Hydrocephalus, Tremor, Chronic rhinitis, Hear... ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia, Microtia, Dandy-Wa... OMIM:236670
Joubert Syndrome 2
Encephalocele, Hydrocephalus, Low-set ears, Enlarged fossa interpeduncularis, Optic disc coloboma... OMIM:608091
Alpha-Mannosidosis, Adult Form
Pneumonia, Mixed hearing impairment, Optic disc pallor ORPHA:309288
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Resting tremor, Abnormal auditory evoked pote... ORPHA:909
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short nose, Mixed hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing im... ORPHA:444077
Brachytelephalangic Chondrodysplasia Punctata
Short nose, Mixed hearing impairment, Optic nerve hypoplasia, Nasal congestion, Thick nasal alae,... ORPHA:79345
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Polyhydramnios, Torticollis, Microtia, Mandibular prognathia, Lo... OMIM:618371
Cardiospondylocarpofacial Syndrome
Recurrent otitis media, Hypoplastic nasal tip, Anteverted nares, Low-set ears, Fusion of middle e... OMIM:157800
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly, Microcephaly, Umbilical hernia OMIM:107480
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Aqueductal stenosis, Low hanging columella, Hydrocephalus, Sensorineural hearing i... OMIM:619512
Floating-Harbor Syndrome
Recurrent otitis media, Low hanging columella, Low-set ears, Atopic dermatitis, Conductive hearin... OMIM:136140
Feingold Syndrome Type 1
Sensorineural hearing impairment, Micrognathia, Conductive hearing impairment, Nephritis ORPHA:391641
Coach Syndrome 2
Hydrocephalus OMIM:619111
Fetal Akinesia Deformation Sequence 1
Stillbirth, Short umbilical cord, Polyhydramnios, Small placenta, Hydrocephalus, Low-set ears, De... OMIM:208150
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Vertigo, Athetosis, Tremor, Limb dystonia, Communicating hydrocephalus, Dys... ORPHA:25
Monosomy 9Q22.3
Short nose, Delayed eruption of teeth, Hydrocephalus, Low-set ears, Umbilical hernia, Thickened e... ORPHA:77301
Charge Syndrome
Microcephaly, Cleft upper lip, Cleft palate, Holoprosencephaly, Umbilical hernia OMIM:214800
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Talon cusp, Agenesis of central incisor, Conductive hearin... ORPHA:2751
Peters Plus Syndrome
Optic atrophy, Short nose, Polyhydramnios, Low-set, posteriorly rotated ears, Spina bifida occult... ORPHA:709
Temple Syndrome
Hydrocephalus ORPHA:254516
Cornelia De Lange Syndrome
Short nose, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Sensorineural hearing i... ORPHA:199
Distal 22Q11.2 Microduplication Syndrome
Palpebral edema, Wide nose, Abnormal antihelix morphology, Hydrocephalus, Abnormal helix morpholo... ORPHA:261337
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hearing impairment, Optic atrophy, Hydrocephalus, Skin rash ORPHA:220295
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Conductive hearing impairment, Uplifted earlobe, Umbilical hernia, Wid... OMIM:280000
Native American Myopathy
Conductive hearing impairment, Micrognathia ORPHA:168572
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Dubowitz Syndrome
Low-set, posteriorly rotated ears, Spina bifida occulta, Delayed eruption of teeth, Abnormal anti... ORPHA:235
Orofaciodigital Syndrome I
Supernumerary tooth, Hydrocephalus, Low-set ears, Myelomeningocele, Hearing impairment, Carious t... OMIM:311200
Tenorio Syndrome
Recurrent aphthous stomatitis, Wide nose, Hydrocephalus, Anteverted nares, Mandibular prognathia,... OMIM:616260
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Alpha-Mannosidosis, Infantile Form
Mixed hearing impairment, Sensorineural hearing impairment, Mandibular prognathia, Communicating ... ORPHA:309282
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Polyhydramnios, Micrognathia, Neonatal death, Mildly elevated crea... OMIM:620351
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Recurrent otitis media ORPHA:2502
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Recurrent otitis media, Interictal epileptiform activity, Pear-shaped nose, Hydroc... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Recurrent otitis media, Interictal epileptiform activity, Pear-shaped nose, Hydroc... ORPHA:363958
Marfanoid-Progeroid-Lipodystrophy Syndrome
Retrognathia, Hydrocephalus, Narrow nasal ridge, Lateral ventricular asymmetry, Prominent nasal b... OMIM:616914
Nephronophthisis 18
Hydrocephalus OMIM:615862
Double Outlet Right Ventricle
Heterotaxy ORPHA:3426
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hearing impairment, Bilateral conductive hearing impairment, Microretrognathia ORPHA:488642
Partial Atrioventricular Septal Defect
Heterotaxy ORPHA:1330
Cole-Carpenter Syndrome 2
Hydrocephalus, Oligohydramnios, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Cerebrocostomandibular Syndrome
Polyhydramnios, Low-set ears, Conductive hearing impairment, Micrognathia, Carious teeth, Posteri... OMIM:117650
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Supernumerary tooth, Dental malocclusion, Low hanging columella, Sensorineural hearing impairment... ORPHA:353281
1P36 Deletion Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Dep... ORPHA:1606
Plasminogen Deficiency, Type I
Periodontitis, Hydrocephalus, Dandy-Walker malformation, Decreased level of plasminogen, Conjunct... OMIM:217090
Baller-Gerold Syndrome
Optic atrophy, Mixed hearing impairment, Spina bifida occulta, Hydrocephalus, Optic nerve hypopla... OMIM:218600
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Sensorineural hearing impairment, Bulbous nose, Wide nasal bridge ORPHA:250989
Hutchinson-Gilford Progeria Syndrome
Convex nasal ridge, Abnormal nasal tip morphology, Retrognathia, Delayed eruption of teeth, Promi... ORPHA:740
Treacher Collins Syndrome 1
Microtia, Choanal atresia, Atresia of the external auditory canal, Conductive hearing impairment,... OMIM:154500
Hajdu-Cheney Syndrome
Wide nose, Periodontitis, Hydrocephalus, Anteverted nares, Low-set ears, Hearing impairment, Micr... ORPHA:955
Fanconi Anemia
Hearing abnormality, Aganglionic megacolon, Azoospermia, Hydrocephalus, Decreased fertility in ma... ORPHA:84
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Supernumerary tooth, Abnormal lateral ventricle morphology, Polyhydramnios, Dental malocclusion, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Supernumerary tooth, Abnormal lateral ventricle morphology, Polyhydramnios, Dental malocclusion, ... ORPHA:353277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventric... OMIM:613154
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Palpebral edema, Head titubation, Ventriculomegaly, EEG abnormality, Hydrocephalus, Anteverted na... OMIM:619475
Degcags Syndrome
Short nose, Retrognathia, Unilateral conductive hearing impairment, Polyhydramnios, Sensorineural... OMIM:619488
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Acro-Renal-Ocular Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Aganglionic megacolon, Optic dis... ORPHA:959
Chilton-Okur-Chung Neurodevelopmental Syndrome
Agenesis of incisor, Recurrent otitis media, Polyhydramnios, Low hanging columella, Sensorineural... OMIM:619841
Chromosome 1P36 Deletion Syndrome, Distal
Optic atrophy, Hypsarrhythmia, Sensorineural hearing impairment, Microtia, Hydrocephalus, Low-set... OMIM:607872
Pfeiffer Syndrome
Short nose, Hydrocephalus, Mandibular prognathia, Choanal atresia, Hypoplasia of the maxilla, Cho... OMIM:101600
Thanatophoric Dysplasia, Type I
Hydrocephalus, Polyhydramnios, Neonatal death OMIM:187600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Optic atrophy ORPHA:60040
Neurooculorenal Syndrome
Aqueductal stenosis, Mixed hearing impairment, Hydrocephalus, Sensorineural hearing impairment, M... OMIM:620305
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Stillbirth, Hydrocephalus, Undetectable visual evoked potentials, Facial palsy, As... OMIM:259720
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Wolf-Hirschhorn Syndrome
Ventriculomegaly, Hydrocephalus, Stenosis of the external auditory canal, Abnormal pinna morpholo... OMIM:194190
Distal Deletion 12Q
Supernumerary tooth, Late onset atopic dermatitis, Prominent ear helix, Microtia, Bilateral condu... ORPHA:96149
Branchiooculofacial Syndrome
Short nasal septum, Sensorineural hearing impairment, Microtia, Branchial anomaly, Low-set ears, ... OMIM:113620
Adams-Oliver Syndrome
Hydrocephalus, EEG abnormality, Ascites, Encephalocele ORPHA:974
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Microtia, Low-set ears, Micrognathia, Microretrognathia, Prominent antitragus, Dep... OMIM:245600
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Heterotaxy OMIM:616749
Sponastrime Dysplasia
Short nose, Wide nose, Obtuse angle of mandible, Anteverted nares, Mandibular prognathia, Decreas... ORPHA:93357
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sensorineural hearing impairment, Decreased circulating antibody level, Communicating hydrocephalus OMIM:616084
Tetrasomy 9P
Amelogenesis imperfecta, Abnormal earlobe morphology, Myositis, Arthritis, Abnormal dental enamel... ORPHA:3310
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Hydrocephalus, Dandy-Walker malformation, L... OMIM:249000
Thakker-Donnai Syndrome
Anteverted nares, Communicating hydrocephalus, Macrotia, Posteriorly rotated ears, Bulbous nose ORPHA:1780
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Low-set ears, Micrognathia, Prominent nasal bridge, Pos... OMIM:300960
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hydrocephalus, Low-set ears, Spina bifida, Conductive hearing impairment, Micrognathi... OMIM:304120
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Prominence of the premaxilla, Wide nasal bridge, Hydrocephalus OMIM:614886
Cardiac-Valvular Ehlers-Danlos Syndrome
Bulbous nose, Severe conductive hearing impairment ORPHA:230851
Cerebral Visual Impairment
Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Increased cup-to-disc ratio, Optic disc pallor ORPHA:447788
Branchioskeletogenital Syndrome
Mixed hearing impairment, Blepharochalasis, Attached earlobe, Mandibular prognathia, Abnormal den... ORPHA:1299
Glutaric Acidemia I
Hydrocephalus, Dystonia, Opisthotonus, Lateral ventricle dilatation, Choreoathetosis OMIM:231670
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Fanconi Anemia, Complementation Group L
Hydrocephalus, Microtia, Low-set ears, Depressed nasal tip, Micrognathia, Anotia, Wide nasal bridge OMIM:614083
Full Nf2-Related Schwannomatosis
Hydrocephalus, Sensorineural hearing impairment, Facial palsy, Bilateral vestibular schwannoma, T... ORPHA:637
Linear Skin Defects With Multiple Congenital Anomalies 1
Hearing impairment, Chordee, Colpocephaly, Hydrocephalus OMIM:309801
Osteogenesis Imperfecta
Mixed hearing impairment, Delayed eruption of teeth, Abnormality of dental color, Abnormal dental... ORPHA:666
Generalized Arterial Calcification Of Infancy
Mixed hearing impairment, Hydrops fetalis, Polyhydramnios, Sensorineural hearing impairment, Calc... ORPHA:51608
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Hydrocephalus, Absent earlobe, Micrognathia, Prominent nasal b... ORPHA:221120
Robinow Syndrome
Short nose, Mixed hearing impairment, Anteverted nares, Flared nostrils, Low-set ears, Marked del... ORPHA:97360
Sotos Syndrome
Chronic otitis media, Aganglionic megacolon, Tremor, Hearing impairment, Conductive hearing impai... ORPHA:821
Alobar Holoprosencephaly
Neural tube defect, Proboscis, Single naris, Hydrocephalus, Sensorineural hearing impairment, Asp... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Proboscis, Single naris, Hydrocephalus, Sensorineural hearing impairment, Asp... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Proboscis, Single naris, Hydrocephalus, Sensorineural hearing impairment, Asp... ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Proboscis, Single naris, Hydrocephalus, Sensorineural hearing impairment, Asp... ORPHA:220386
Acrofacial Dysostosis, Cincinnati Type
Short nose, Mild hearing impairment, Recurrent otitis media, Retrognathia, Bilateral choanal atre... OMIM:616462
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Wide nose, Decreased circulating renin level, Low-set ears, Choanal atresia, Conductive hearing i... OMIM:201750
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Mixed hearing impairment, Wide nasal bridge, Mandibular prognathia OMIM:201180
Gaucher Disease
Hydrops fetalis, Increased circulating antibody level, Elevated circulating C-reactive protein co... ORPHA:355
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hyperplasia of the maxilla, Recurrent otitis media, Abnormal Eustachian tube morphology, Antevert... ORPHA:513456
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Polyhydramnios, Neonatal death OMIM:314390
Fanconi Anemia, Complementation Group D2
Hearing impairment, Low-set ears, Hydrocephalus, Hypergonadotropic hypogonadism OMIM:227646
Neonatal Lupus Erythematosus
Malar rash, Skin rash, Hydrocephalus, Maculopapular exanthema ORPHA:398124
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Meningioma
Ear pain, Hydrocephalus, Facial palsy, Impotence, Papilledema, Tinnitus, Abnormality of the sense... ORPHA:2495
Kabuki Syndrome 1
Recurrent otitis media, Hydrocephalus, Low-set ears, Depressed nasal tip, Hearing impairment, Mac... OMIM:147920
Floating-Harbor Syndrome
Long nose, Narrow nasal bridge, Low hanging columella, Low-set ears, Cochlear malformation, Persi... ORPHA:2044
Spondylocarpotarsal Synostosis Syndrome
Short nose, Mixed hearing impairment, Sensorineural hearing impairment, Anteverted nares, Enamel ... OMIM:272460
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Abnormal earlobe morphology, Wide nose, Hydrocephalus, Abnormal dental enamel morph... ORPHA:2556
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Low-set ears, Communicating hydrocephalus, Macrotia, Prominent nasal bridg... OMIM:617011
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Hydrocephalus, Pleural effusion, Ascites, Pericardial effusion, Peripheral edema... OMIM:261740
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Sensorineural hearing impairment, Microtia, Underdevelope... OMIM:164210
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Hydrops fetalis, Stomatitis, Hydrocephalus, Low-set ears, Dehydration ORPHA:79282
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Sturge-Weber Syndrome
Optic atrophy, Hearing abnormality, Hydrocephalus ORPHA:3205
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Abnormal dental enamel morphology, Mandibular prognathia, Facial palsy, Choanal at... ORPHA:2658
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Macrotia, Tremor, Low-set ears OMIM:277400
Coffin-Siris Syndrome 12
Protruding ear, Low hanging columella, Sensorineural hearing impairment, Prominent nasal tip, Ant... OMIM:619325
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Tremor, Facial palsy, Abnormal autonomic nervous system physi... ORPHA:58
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Microtia, Choanal atresia, Posteriorly rotated ears, Overhanging nasal tip, Underd... ORPHA:163979
Ciliary Dyskinesia, Primary, 43
Chronic rhinitis, Noncommunicating hydrocephalus, Recurrent upper respiratory tract infections, B... OMIM:618699
Down Syndrome
Conductive hearing impairment, Microtia, Aganglionic megacolon OMIM:190685
Laurin-Sandrow Syndrome
Abnormality of the nose, Hydrocephalus, Depressed nasal ridge, Prominent nose, Underdeveloped nas... ORPHA:2378
Dextrocardia
Hydrocephalus, Aplasia/Hypoplasia of the ear ORPHA:1666
Chondrodysplasia Punctata, Autosomal Dominant
Hypoplasia of the nasal bone OMIM:118650
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Hydrolethalus Syndrome 1
Stillbirth, Midline defect of the nose, Polyhydramnios, Anencephaly, Dandy-Walker malformation, A... OMIM:236680
Gracile Bone Dysplasia
Hydrocephalus, Ascites OMIM:602361
Proteus-Like Syndrome
Hydrocephalus, Anteverted nares, Mandibular prognathia, Communicating hydrocephalus ORPHA:2969
Mirage Syndrome
Hydrocephalus, Aspiration pneumonia, Hypergonadotropic hypogonadism OMIM:617053
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Communicating hydrocephalus ORPHA:2184
Mowat-Wilson Syndrome
Recurrent otitis media, Aganglionic megacolon, EEG with spike-wave complexes, Delayed eruption of... ORPHA:2152
Focal Dermal Hypoplasia
Optic atrophy, Mixed hearing impairment, Spina bifida occulta, Delayed eruption of teeth, Cleft a... OMIM:305600
Yunis-Varon Syndrome
Narrow nasal base, Hydrops fetalis, Polyhydramnios, Hydrocephalus, Anteverted nares, Abnormal pin... ORPHA:3472
Microphthalmia With Limb Anomalies
Optic atrophy, Low-set, posteriorly rotated ears, Hydrocephalus, Hypoplasia of the maxilla, Micro... ORPHA:1106
Hec Syndrome
Polyhydramnios, Communicating hydrocephalus ORPHA:2119
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Hydrocephalus, Sensorineural hearing impairment, Spontaneous, recurrent epistaxis, B... ORPHA:2072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Anteverted nares, Micrognathia, Depressed nasal bridge, Communicating hydrocephalus ORPHA:1064
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Hereditary Cryohydrocytosis With Reduced Stomatin
Macrotia, Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Marden-Walker Syndrome
Retrognathia, Hydrocephalus, Low-set ears, Micrognathia, Posteriorly rotated ears ORPHA:2461
Gorlin Syndrome
Hydrocephalus, Mandibular prognathia, Carious teeth, Abnormality of the sense of smell, Hypogonad... ORPHA:377
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Costello Syndrome
Polyhydramnios, Hydrocephalus, Anteverted nares, Low-set ears, Micrognathia, Posteriorly rotated ... OMIM:218040
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Short nose, Hydrocephalus, Decreased circulating IgG level, Increased circulating ... ORPHA:505248
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Retrognathia, Convex nasal ridge, Hearing abnormality, Recurrent otitis media, Hyd... ORPHA:3455
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Optic nerve compression, Hydrocephalus, Decreased circulating IgG level, Recurrent... OMIM:612301
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Optic atrophy ORPHA:395
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Hydrocephalus, Lymphedema, Nonimmune hydrops fetalis, Epistaxis ORPHA:137667
Peters-Plus Syndrome
Polyhydramnios, Conical incisor, Stenosis of the external auditory canal, Hydrocephalus, Microtia... OMIM:261540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Occipital encephalocele, Hydromyelia, Anencephaly, Hydrocephalus, Dandy-Wa... OMIM:615287
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Hydrocephalus, Small earlobe, Absent earlobe, Anteverted nares, Low-se... OMIM:264090
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Decreased circulating total IgM, Allergic rhinitis, Eczematoid dermatitis OMIM:618162
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Polyhydramnios, Hydrocephalus, Low-set ears, Myelomeningocele OMIM:306955
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Polyhydramnios, Hydrocephalus, Anteverted nares, Low-set ears, Ascites, Hear... OMIM:619534
Tetraamelia Syndrome 1
Single naris, Hydrocephalus, Low-set ears, Choanal atresia, Micrognathia OMIM:273395
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Communicating hydrocephalus, Delayed eruption of... ORPHA:2050
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Communicating hydrocephalus, Macrotia, ... ORPHA:457359
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Hydrocephalus, Anteverted nares, Microtia, Low-set ears, Micrognathia, Colpocephaly, ... OMIM:210710
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Oligohydramnios ORPHA:3016
Lymphangioleiomyomatosis
Optic atrophy, Chylopericardium, Chylothorax, Hydrocephalus, Lymphedema, Ascites ORPHA:538
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly, Elevated circulating creatine kinase concentration, Tubulointers... ORPHA:228308
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Elevated circulating creatine kinase concentration, Tubulointerstitial nephritis ORPHA:157
Simpson-Golabi-Behmel Syndrome, Type 1
Short nose, Polyhydramnios, Dental malocclusion, Hydrocephalus, Anteverted nares, Mandibular prog... OMIM:312870
Diets-Jongmans Syndrome
Heterotaxy OMIM:618846
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Hypsarrhythmia, Spina bifida OMIM:162200
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Choanal at... ORPHA:2369
Basal Cell Nevus Syndrome 1
Hydrocephalus, Mandibular prognathia, Wide nasal bridge, Spina bifida OMIM:109400
Roberts-Sc Phocomelia Syndrome
Stillbirth, Polyhydramnios, Hydrocephalus, Abnormal pinna morphology, Absent earlobe, Low-set ear... OMIM:268300
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism OMIM:619657
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:1571
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Hydrocephalus, Elevated circulating creatine kinase concentration, Micrognathia, S... OMIM:253280
Loeys-Dietz Syndrome 1
Retrognathia, Hydrocephalus, Low-set ears, Eosinophilic infiltration of the esophagus, Micrognath... OMIM:609192
Neurofibromatosis Type 1
Hearing impairment, Hearing abnormality, Hydrocephalus ORPHA:636
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Optic nerve hypoplasia ORPHA:457284
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Optic nerve compression, Hypogonadotropic hypogonadism ORPHA:91350
Histiocytoid Cardiomyopathy
Optic atrophy, Pulmonary edema, Hydrocephalus ORPHA:137675
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Short nose, Hypoplasia of the ovary, Optic nerve hypoplasia, Hydrocephalus, Convex... OMIM:619321
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Conical incisor, Xerostomia, Microtia, Hearing impairment, Carious teet... OMIM:149730
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Sinusitis, Micrognathia, Protruding ear, Abnormal dental pulp morphology ORPHA:363700
Loeys-Dietz Syndrome 2
Retrognathia, Hydrocephalus, Eosinophilic infiltration of the esophagus, Micrognathia, Umbilical ... OMIM:610168
Exstrophy-Epispadias Complex
Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction, Spina bifida ORPHA:322
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Elevated circulating creatine kinase concentration, Limb dystonia, Dystonia, Perip... OMIM:175780
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Situs inversus totalis, Left Isomerism OMIM:619702
Tuberous Sclerosis Complex
Subependymal nodules, Noncommunicating hydrocephalus 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
Tgif1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tgif1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tgif1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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