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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Deep philtrum, Alobar holoprosencephaly, Oral cle... OMIM:609637
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Microcephaly OMIM:306990
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Macrocephaly, Hydrocephalus, Dandy-Walker m... OMIM:617967
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Microcephaly, Cerebral cortical atrophy ORPHA:2523
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Deafness, Conductive, With Malformed External Ear
Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormality of the pinna, ... OMIM:221300
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Cleft palate, Hydrocephalus ORPHA:945
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Mental retardation, x-linked, syndromic, Turner type
Macrocephaly, Holoprosencephaly OMIM:300706
Holoprosencephaly 11
Holoprosencephaly, Cleft lip, Cleft palate, Microcephaly, Agenesis of corpus callosum OMIM:614226
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Microphthalmia, Isolated, With Coloboma 5
Oral cleft, Holoprosencephaly OMIM:611638
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Microcephaly, Cleft upper lip, Cleft palate OMIM:612530
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference OMIM:619033
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Abnormality of the diencephalon, Cleft palate, Microcephaly, Median cleft lip ORPHA:2165
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephal... ORPHA:2570
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Bilateral cleft lip and palate, Cleft upper lip, Absent septum pellucidum OMIM:601357
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephal... ORPHA:1908
Distal Monosomy 7Q36
Holoprosencephaly, Wide mouth, Non-midline cleft lip, Cleft palate, Microcephaly ORPHA:1636
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, Ventriculomegaly, Alobar holoprosencephaly, High palate, High, narrow palate, Age... OMIM:615433
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Monosomy 18P
Short philtrum, Carious teeth, Tooth malposition, Downturned corners of mouth, Holoprosencephaly,... ORPHA:1598
Pineocytoma
Increased CSF protein, Hydrocephalus, Hearing abnormality ORPHA:251912
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Hartsfield Syndrome
Lobar holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Non-midline cleft lip, Cleft ... ORPHA:2117
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Torus palatinus, Solitary median maxillary central incisor, Cleft upper lip, M... OMIM:147250
Branchiootic Syndrome
Conductive hearing impairment, Branchial fistula, Atresia of the external auditory canal, Morphol... ORPHA:52429
16P13.11 Microdeletion Syndrome
Short nose, Holoprosencephaly, Ventriculomegaly, Smooth philtrum, Wide mouth, Thin upper lip verm... ORPHA:261236
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Holoprosencephaly, Microglossia, Cleft palate, Agenesis of corpus callosum OMIM:202650
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hearing impairment, EEG abnormality, Hydrocephalus ORPHA:1008
Triploidy
Macroglossia, Narrow mouth, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Wide mo... ORPHA:3376
Lambotte Syndrome
Semilobar holoprosencephaly, Microcephaly, Narrow mouth OMIM:245552
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:610680
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Periventricular Nodular Heterotopia 9
Hypoplasia of the corpus callosum, Polymicrogyria, Gingival overgrowth, High palate, Hypoplastic ... OMIM:618918
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Ventriculomegaly, Pneumonia ORPHA:85179
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:588
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment, Ventriculomegaly, Hydrocephalus OMIM:604213
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Auriculocondylar Syndrome 3
Bilateral conductive hearing impairment, Question mark ear, Stenosis of the external auditory can... OMIM:615706
Microform Holoprosencephaly
Panhypopituitarism, Short philtrum, Short nose, Holoprosencephaly, Tented upper lip vermilion, Or... ORPHA:280200
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Distal Monosomy 13Q
Holoprosencephaly, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Anencephaly ORPHA:1590
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Smith-Magenis Syndrome
Mandibular prognathia, Morphological abnormality of the middle ear, Ventriculomegaly, Abnormality... OMIM:182290
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy ORPHA:1513
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ring Chromosome 21 Syndrome
Holoprosencephaly, Microcephaly ORPHA:1445
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft lip and palate, Median cleft lip OMIM:142946
Developmental And Epileptic Encephalopathy 36
Low-set ears, Optic atrophy, Hydrocephalus, Hypsarrhythmia OMIM:300884
Thanatophoric Dysplasia Type 2
Macrocephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus ORPHA:93274
Achondroplasia
Conductive hearing impairment, Recurrent otitis media, Hydrocephalus OMIM:100800
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia, Hypoplasia of the ma... ORPHA:99772
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Narrow mouth, Holoprosencephaly, Microglossia, Agenesis of ... ORPHA:990
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Holoprosencephaly 3
Holoprosencephaly, Ventriculomegaly, Solitary median maxillary central incisor, Cleft lip, Cleft ... OMIM:142945
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Macroglossia, Drooling, Open mouth, Thick lower lip vermilion, Wide mouth, Tented upper lip vermi... OMIM:309580
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Macrocephaly, Microcephaly, Hypoplastic philtrum OMIM:616682
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Treacher Collins Syndrome 3
Conductive hearing impairment, Micrognathia, Microtia, Abnormality of the outer ear OMIM:248390
Holoprosencephaly 7
Semilobar holoprosencephaly, Median cleft lip and palate, Panhypopituitarism, Agenesis of corpus ... OMIM:610828
Endocrine-Cerebroosteodysplasia
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Ventriculomegaly, Natal tooth, Wide... OMIM:612651
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Thick vermilion border, Submucous cleft hard palate, Cleft palate ORPHA:250999
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Hearing impairment, Conductive hearing impairment OMIM:303110
Faciocardiorenal Syndrome
Wide nasal bridge, Hypoplastic philtrum, Hypodontia, Cleft palate OMIM:227280
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Developmental And Epileptic Encephalopathy 49
Macrotia, Ventriculomegaly, EEG abnormality, Optic atrophy, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Fried Syndrome
Hearing impairment, Hydrocephalus, Macrotia ORPHA:85335
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Solitary medi... OMIM:301043
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Br... ORPHA:107
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Micrognathia, Microtia OMIM:248910
Ciliary Dyskinesia, Primary, 38
Infertility, Bronchiectasis, Conductive hearing impairment, Chronic otitis media, Absent inner an... OMIM:618063
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Agenesis of corpus callosum, Holoprosencephaly, Cerebellar hypoplasi... OMIM:264480
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Sensorineural hearing impa... OMIM:618500
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middl... ORPHA:3236
Holoprosencephaly 9
Panhypopituitarism, Short philtrum, Holoprosencephaly, Agenesis of incisor, Anterior pituitary ag... OMIM:610829
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Abnormality of the malleus, Con... ORPHA:949
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Long philtrum, Thin vermilion border, Short nose, Smooth philtrum, Umbilical hernia, Cleft palate... OMIM:218649
Treacher Collins Syndrome 4
Conductive hearing impairment, Micrognathia OMIM:618939
Myopathy, Congenital, Bailey-Bloch
Low-set ears, Ventriculomegaly, Micrognathia, Conductive hearing impairment OMIM:255995
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Holoprosencephaly 2
Median cleft lip and palate, Holoprosencephaly, Anterior pituitary agenesis, Cerebellar hypoplasi... OMIM:157170
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media OMIM:221320
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Treacher Collins Syndrome 2
Conductive hearing impairment, Micrognathia, Microtia OMIM:613717
Pettigrew Syndrome
High-frequency hearing impairment, Ventriculomegaly, Mandibular prognathia, Sensorineural hearing... OMIM:304340
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Posteriorly rotated ears, Sensorineural hearing impairment, Opti... ORPHA:2185
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Abnormality of the antihelix, Conductive hearing impairment, Supernumerary tooth, ... ORPHA:3145
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Decreased circulating antibody level, Agammaglobulinemia, Conductive hearing impair... OMIM:616910
Ramon Syndrome
Conductive hearing impairment, Delayed eruption of teeth, Abnormal dental enamel morphology, Sens... ORPHA:3019
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Microcephaly ORPHA:2163
Iniencephaly
Spina bifida, Narrow mouth, Holoprosencephaly, Spinal dysraphism, Anencephaly, Oral cleft, Dandy-... ORPHA:63259
Isolated Cleft Lip
Polyhydramnios, Conductive hearing impairment, Chronic otitis media, Umbilical hernia, Supernumer... ORPHA:199302
Microtia-Anotia
Holoprosencephaly OMIM:600674
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Conductive hearing impairment, Recurrent otitis media, Chronic rhinitis, Recurren... OMIM:616726
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Umbilical hernia, Hearing impairment, Sensorineural hearing impair... OMIM:616331
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Retinitis Pigmentosa
Conductive hearing impairment, Hypogonadism, Sensorineural hearing impairment, Optic atrophy ORPHA:791
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Micrognathia, Microtia OMIM:300946
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:77298
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnorma... ORPHA:100084
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Conductive hearing impairment, Optic atrophy, Inflammatory abnormality of the eye,... ORPHA:93262
Crouzon Disease
Narrow internal auditory canal, Conductive hearing impairment, Conjunctivitis, Hearing impairment... ORPHA:207
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly, Thick vermilion borde... OMIM:618651
Diprosopus
Anencephaly, Non-midline cleft lip, Cleft palate ORPHA:1681
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2789
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment, No permanent dentition OMIM:216300
Steinfeld Syndrome
Bifid uvula, Median cleft lip and palate, Aplasia of the nose, Holoprosencephaly OMIM:184705
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Microtia, Short mandibular... OMIM:141400
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Microtia OMIM:251800
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Narrow mouth, Abnormal periventricular white matter morphology, Cortical dysplasia, Cerebral hypo... ORPHA:468631
Microtia
Holoprosencephaly ORPHA:83463
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus, Cleft upper lip, Cleft palate ORPHA:398189
Mental Retardation, Autosomal Dominant 36
Open mouth, Hypoplasia of the corpus callosum, Ventriculomegaly, Tented upper lip vermilion, Micr... OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Holo... OMIM:253800
Trisomy 18
Spina bifida, Narrow palate, Narrow mouth, Aplasia/Hypoplasia of the corpus callosum, Short nose,... ORPHA:3380
Acrocraniofacial Dysostosis
Conductive hearing impairment, Natal tooth, Abnormality of the outer ear, Sensorineural hearing i... OMIM:201050
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Protruding ear, Oligohydramnios OMIM:602249
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment OMIM:132450
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Oral cleft, Aplasia of the nose, Microcephaly, Median cleft lip ORPHA:3186
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Branchial fistula, Low-set ears, Cupped ear, Se... OMIM:602588
Pigmented Villonodular Synovitis
Joint swelling, Lymphedema, Conductive hearing impairment, Abnormality of the tympanic membrane, ... ORPHA:66627
X-Linked Intellectual Disability, Cantagrel Type
Short philtrum, Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Tented upper lip... ORPHA:85277
Holoprosencephaly-Postaxial Polydactyly Syndrome
Narrow mouth, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Cerebellar hypoplasia... ORPHA:2166
Holoprosencephaly
Median cleft lip and palate, Panhypopituitarism, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hy... ORPHA:2162
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Non-midline cleft lip, Cleft palate ORPHA:2476
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Posterior pituitary agenesis, Anterior p... ORPHA:563612
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Solitary median maxillary central incisor, High p... ORPHA:556955
Craniofacial Dyssynostosis
Umbilical hernia, Low-set ears, Stenosis of the external auditory canal, Micrognathia, Hydrocephalus ORPHA:1516
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the pinna OMIM:214300
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Conductive hearing impairment, Umbilical hernia, Low-set ... OMIM:130720
Alopecia Antibody Deficiency
Conductive hearing impairment, Abnormality of dental color, Decreased circulating antibody level ORPHA:1006
6P22 Microdeletion Syndrome
Low-set ears, Hearing impairment, Hydrocephalus, Overfolded helix ORPHA:251046
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
Zechi-Ceide Syndrome
Conductive hearing impairment, Mandibular prognathia, Low-set ears, Stenosis of the external audi... ORPHA:217017
Diencephalic Syndrome
Optic atrophy, Hydrocephalus, Macrotia ORPHA:1672
Krabbe Disease
Increased CSF protein, Hearing impairment, EEG abnormality, Decreased nerve conduction velocity, ... OMIM:245200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hydrocep... OMIM:109120
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia ORPHA:921
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Mohr-Tranebjaerg Syndrome
Tremor, Vestibular dysfunction, Absent brainstem auditory responses, Sensorineural hearing impair... ORPHA:52368
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Holoprosencephaly, Natal tooth, Hamartoma of tongue, Anencephaly, Ne... OMIM:269860
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Conductive hearing impairment, Trismus, Low-set ears, Cupped e... OMIM:616367
Otofaciocervical Syndrome
Abnormality of the antihelix, Macrotia, Conductive hearing impairment, Atresia of the external au... ORPHA:2792
Jacobsen Syndrome
Short nose, Holoprosencephaly, U-Shaped upper lip vermilion, Macrocephaly, Microcephaly, Hydrocep... OMIM:147791
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Iridocyclitis, Chronic oral candidiasis, Chronic active hep... OMIM:240300
Genitourinary And/Or Brain Malformation Syndrome
Long philtrum, Agenesis of corpus callosum, Short nose, Absent septum pellucidum, Holoprosencepha... OMIM:618820
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, Protruding ... OMIM:147770
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Conductive hearing impairment, Mandibular prognathia, Low-set ears, Sensorineural hearing impairm... OMIM:618672
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Micrognathia, Microtia ORPHA:398156
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200
Craniometaphyseal Dysplasia
Conductive hearing impairment, Abnormal cranial nerve morphology, Sensorineural hearing impairmen... ORPHA:1522
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Conductive hearing impairment, Chronic otitis media, Pneumonia, Sinusitis, Chroni... OMIM:244400
Congenital Toxoplasmosis
Ventriculomegaly, Hearing impairment, Ascites, Hydrocephalus ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Optic atrophy, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Mandibular pain OMIM:607634
Lissencephaly 5
Hearing impairment, Optic atrophy, Hydrocephalus OMIM:615191
Hartsfield Syndrome
Cleft palate, Lobar holoprosencephaly, Cleft upper lip, Microcephaly, Agenesis of corpus callosum... OMIM:615465
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus, Hearing abnormality ORPHA:251915
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment, Carious teeth ORPHA:1997
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Posteriorly rotated ears, Hydrocephalus, Dilation of lateral ventricles, Low-set ears OMIM:300864
Cooper-Jabs Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Atresia of the external auditor... ORPHA:1488
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:2213
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, Protruding ... ORPHA:2316
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Papilloma Of Choroid Plexus
Papilledema, Hydrocephalus, Choroid plexus papilloma OMIM:260500
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Communicating hydrocephalus ORPHA:1861
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Abnormality of the middle ear, ... ORPHA:246
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Branchial cyst, Conductive hearing impairment, Branchial fistula, Cupp... OMIM:113650
Pallister-Hall Syndrome
Panhypopituitarism, Hypothalamic hamartoma, Short nose, Holoprosencephaly, Natal tooth, Neonatal ... OMIM:146510
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Intellectual Developmental Disorder, Autosomal Dominant 65
Long philtrum, Short philtrum, Downturned corners of mouth, Dysgenesis of the hippocampus, Thick ... OMIM:619320
Gómez-López-Hernández Syndrome
Low-set ears, Hydrocephalus ORPHA:1532
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Arrhinencephaly, Septo-optic dysplasia, Optic atrophy, Hydroce... ORPHA:1528
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Sensorineural hearing impairment, Hand tremor, Optic atrophy, Hydrocephalus ORPHA:99947
Orofaciodigital Syndrome Vi
Low-set ears, Micrognathia, Posteriorly rotated ears, Conductive hearing impairment OMIM:277170
Frontonasal Dysplasia 1
Low-set ears, Conductive hearing impairment, Hypoplasia of the maxilla OMIM:136760
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Mandibular prognathia, Aplasia/Hypop... ORPHA:3082
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Micrognathia, Azoospermia OMIM:601076
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Aganglionic megacolon, Abnormality of the pinna, Low-set ears, Hydrocephalus, ... OMIM:613603
Cleft Lip/Palate
Agenesis of lateral incisor, Conductive hearing impairment, Recurrent otitis media, Peg-shaped ma... ORPHA:199306
Primary Ciliary Dyskinesia
Bronchiectasis, Conductive hearing impairment, Recurrent otitis media, Chronic otitis media, Vent... ORPHA:244
Burn-Mckeown Syndrome
Conductive hearing impairment, Mandibular prognathia, Micrognathia, Protruding ear OMIM:608572
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Conductive hearing impairment, Low-set, posteriorly rotated ears, Sensorineura... ORPHA:1131
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Macrotia, Low-set, posteriorly rotated ears, Hearing impairment, Hydrocephalus ORPHA:2701
Oculocerebrodental Syndrome
Enamel hypoplasia, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impai... ORPHA:557003
Arachnoiditis
Hearing impairment, Hydrocephalus, Tinnitus ORPHA:137817
Ring Chromosome 7 Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Short nose, Holoprosencephaly, Ventriculomeg... ORPHA:1449
Developmental And Epileptic Encephalopathy 65
Microcephaly, Ventriculomegaly, Cerebral atrophy, Tented upper lip vermilion OMIM:618008
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Pachygyria, Exencephaly, Wide nasal bridge, Polymicrogyria, Abnormal cortical gyra... ORPHA:2211
Central Neurocytoma
Tinnitus, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Temple Syndrome
Posteriorly rotated ears, Recurrent otitis media, Micrognathia, Hydrocephalus OMIM:616222
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia, Microtia OMIM:239800
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis OMIM:184460
Coffin-Siris Syndrome 6
Conductive hearing impairment, Low-set, posteriorly rotated ears, Retrognathia, Micrognathia OMIM:617808
Thanatophoric Dysplasia
Polyhydramnios, Ventriculomegaly, Low-set ears, Increased nuchal translucency, Hearing impairment... ORPHA:2655
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Macroglossia, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum... OMIM:616900
Trichorhinophalangeal Syndrome Type 2
Conductive hearing impairment, Low-set, posteriorly rotated ears, Ventriculomegaly, Protruding ea... ORPHA:502
Orofaciodigital Syndrome Xiv
Hypoplasia of the corpus callosum, Holoprosencephaly, Natal tooth, Hamartoma of tongue, Cerebella... OMIM:615948
Non-Functioning Paraganglioma
Tremor, Conductive hearing impairment, Cranial nerve compression, Pulsatile tinnitus, Paroxysmal ... ORPHA:94080
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Low-set ears, Posteriorly rotated ears, Anterior open-bite maloccl... OMIM:617877
Albers-Schönberg Osteopetrosis
Carious teeth, Osteomyelitis, Osteoarthritis, Hearing impairment, Facial palsy, Optic atrophy, Ma... ORPHA:53
Holoprosencephaly 1
Median cleft lip and palate, Ethmocephaly, Cerebellar hypoplasia, Alobar holoprosencephaly, Aplas... OMIM:236100
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Hyperphosphatasia With Mental Retardation Syndrome 3
Short nose, Cerebral atrophy, Tented upper lip vermilion, Wide nasal bridge, Cleft palate, Microc... OMIM:614207
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Neural tube defect OMIM:600776
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Low-set ears, Posteriorly rotated ears, Retrognathia, Micrognathia, Hydrocephal... ORPHA:163961
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Failure of eruption of permanent teeth ORPHA:3238
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hyperphosphatasia With Mental Retardation Syndrome 4
Tented upper lip vermilion, Wide nasal bridge, Thin upper lip vermilion, Cleft palate, Microcephaly OMIM:615716
Acrootoocular Syndrome
Delayed eruption of teeth, Conductive hearing impairment, Atresia of the external auditory canal,... ORPHA:2980
Mosaic Variegated Aneuploidy Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephal... ORPHA:1052
Larsen-Like Syndrome
Low-set ears, Dental malocclusion, Recurrent otitis media, Conductive hearing impairment OMIM:608545
Monosomy 13Q14
Holoprosencephaly, Hypoplasia of the corpus callosum, Microcephaly, Wide nasal bridge ORPHA:1587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Conductive hearing impairment, Atresia of the external auditory canal, Stenosis of the ex... OMIM:608257
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Mixed hearin... OMIM:118100
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrotia OMIM:300886
Phaver Syndrome
Overfolded helix, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes, Low-set ears... ORPHA:2876
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Sotos Syndrome 1
Conductive hearing impairment, Mandibular prognathia, Ventriculomegaly, Otitis media, Advanced er... OMIM:117550
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Conical incisor, Lymphedema, Pleural effusion, Pericardial effusion, C... OMIM:235510
Smith-Lemli-Opitz Syndrome
Long philtrum, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the cerebellum, Biparieta... ORPHA:818
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Bresek Syndrome
Aganglionic megacolon, Low-set ears, Neonatal death, Hearing impairment, Protruding ear, Optic ne... ORPHA:85284
Combined Pituitary Hormone Deficiencies, Genetic Forms
Median cleft lip and palate, Ectopic anterior pituitary gland, Absent septum pellucidum, Holopros... ORPHA:95494
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Hearing impairment OMIM:616229
Trisomy 8P
Conductive hearing impairment, Morphological abnormality of the middle ear, Aplasia/Hypoplasia of... ORPHA:264450
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Increased in... OMIM:612290
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, Low-set ears, Protruding ear, Dental malocclusion, Hydrocep... OMIM:249630
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Conductive hearing impairment, Sensorineura... ORPHA:1307
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Mandibular prognathia, Hydrocephalus, Low-set ears OMIM:600991
Macrocephaly And Epileptic Encephalopathy
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Abnormality ... OMIM:606369
Distal Monosomy 19P13.3
Conductive hearing impairment, Low-set, posteriorly rotated ears, Decreased circulating antibody ... ORPHA:96129
Blepharocheilodontic Syndrome 1
Conical tooth, Neural tube defect, Cleft upper lip, Hypodontia OMIM:119580
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Low-set ears, Micrognathia, Hydrocephalus, Microtia ORPHA:171839
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hearing impairment, Optic atrophy, Hydrocephalus, Microtia ORPHA:1914
Mucopolysaccharidosis Type 3
Thickened helices, Abnormality of the middle ear ossicles, Hydrocephalus, Conductive hearing impa... ORPHA:581
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Long philtrum, Short nose, Hypoplasia of the corpus callosum, Tented upper lip vermilion, High pa... OMIM:614105
Joubert Syndrome 14
Short philtrum, Open mouth, Tented upper lip vermilion, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Aicardi-Goutieres Syndrome 4
Low-set ears, Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus OMIM:610333
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Drooling, Open mouth, Ventriculomegaly, Megalencephaly, Wide mouth, Tented upper lip vermilion, C... ORPHA:500533
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Conductive hearing impairment, Low-set ears, Posteriorly rotated ears,... ORPHA:2780
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia OMIM:602471
Smith-Lemli-Opitz Syndrome
Long philtrum, Dental crowding, Hypoplasia of the corpus callosum, Holoprosencephaly, Wide nasal ... OMIM:270400
Chromosome 18Q Deletion Syndrome
Tremor, Atopic dermatitis, Macrotia, Conductive hearing impairment, Mandibular prognathia, Atresi... OMIM:601808
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Large earlobe OMIM:602501
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, Conductive hearing impairment, Supernumerary tooth, Overfolded helix OMIM:617412
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Spinal dysraphism, Hearing impairment, Micrognathia, Hydroceph... ORPHA:1926
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Autonomic bladder dysfunction, Orthostatic hypotension, Erectile dysfunction, Abnormal au... ORPHA:99027
Marshall-Smith Syndrome
Conductive hearing impairment, Retrognathia, Optic atrophy, Ventriculomegaly ORPHA:561
Crouzon Syndrome
Conductive hearing impairment, Mandibular prognathia, Atresia of the external auditory canal, Con... OMIM:123500
Radio-Tartaglia Syndrome
Tremor, Conductive hearing impairment, Low-set ears, Hearing impairment, Retrognathia, Micrognath... OMIM:619312
Kbg Syndrome
Bilateral conductive hearing impairment, EEG abnormality, Macrotia ORPHA:2332
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Abnormality of the outer ear OMIM:614195
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Hypoplasia of the corpus callosum, Everted lower lip vermilion, Ventriculomegaly,... OMIM:616449
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Low-set ears, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment OMIM:135100
Emanuel Syndrome
Delayed eruption of teeth, Infertility, Oligohydramnios, Macrotia, Severe hearing impairment, Rec... ORPHA:96170
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Hydrocephalus ORPHA:352682
Meckel Syndrome
Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the tongue, Anencephaly, Furrowe... ORPHA:564
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypoplasia of the brainstem, Thin vermilion border, Short philtrum, Deep philtrum, Cerebellar hyp... OMIM:618622
Isotretinoin Embryopathy-Like Syndrome
Anotia, Hydrocephalus, Microtia OMIM:243440
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Short philtrum, Tented upper lip vermilion, Partial agenesis of the corpus callosum OMIM:618346
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Umbilical hernia, Hypoplasia of the maxilla ORPHA:2095
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Arthrogryposis, Distal, Type 2A
Polyhydramnios, Oligohydramnios, Mandibular prognathia, Hearing impairment, Abnormal auditory evo... OMIM:193700
Smith-Magenis Syndrome
Delayed eruption of primary teeth, Taurodontia, Conductive hearing impairment, Mandibular prognat... ORPHA:819
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media, Umbilical hernia OMIM:156550
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus OMIM:304100
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Umbilical hernia, Hearing impairment, Hydrocephalus, Hypoplasia of the max... OMIM:601499
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Fraser Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... OMIM:219000
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Narrow internal auditory canal, Conductive hearing impairment, Low-... ORPHA:794
Optic Pathway Glioma
Vertigo, Papilledema, Hydrocephalus, Optic atrophy ORPHA:2086
Peho Syndrome
Macrotia, Palpebral edema, Peripheral edema, Hypsarrhythmia, Pedal edema, Ventriculomegaly, Exter... ORPHA:2836
Apert Syndrome
Delayed eruption of teeth, Conductive hearing impairment, Mandibular prognathia, Ventriculomegaly... ORPHA:87
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Short nose, Downturned corners of mouth, Tented upper lip vermilion, Wide nasal b... OMIM:239300
Otofaciocervical Syndrome 1
Conductive hearing impairment OMIM:166780
Congenital Sialidosis Type 2
Umbilical hernia, Low-set ears, Hearing impairment, Edema, Ascites, Optic atrophy, Hydrocephalus ORPHA:93400
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Sensorineural hearing impairment, Retrognathia, Hydrocephalus, Dandy-Walker mal... OMIM:612938
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Atresia of the external auditory canal, Low-set ears, Posteriorly ... OMIM:613309
Carpenter Syndrome 1
Conductive hearing impairment, Abnormality of the pinna, Persistence of primary teeth, Umbilical ... OMIM:201000
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Mental Retardation, Autosomal Dominant 40
Short philtrum, Open mouth, Everted lower lip vermilion, Tented upper lip vermilion, High palate,... OMIM:616579
Mandibulofacial Dysostosis, Guion-Almeida Type
Overfolded helix, Conductive hearing impairment, Atresia of the external auditory canal, Low-set ... OMIM:610536
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Umbilical hernia ORPHA:380
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Posteriorly rotated ears, Sensorineural hearing im... OMIM:615219
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Recurrent otitis media, Conductive hearing impairment, Congenital senso... OMIM:157800
Pgm3-Cdg
Recurrent pneumonia, Esophagitis, Cutaneous abscess, Allergic rhinitis, Atopic dermatitis, Bronch... ORPHA:443811
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Temple-Baraitser Syndrome
Long philtrum, Delayed eruption of teeth, Open mouth, Everted lower lip vermilion, Wide mouth, Te... ORPHA:420561
Paragangliomas 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Immunodeficiency 23
Allergic rhinitis, Increased circulating IgM level, Increased circulating IgE level, Bronchiectas... OMIM:615816
Down Syndrome
Conductive hearing impairment, Aganglionic megacolon, Umbilical hernia, Round ear, Decreased fert... ORPHA:870
Shprintzen-Goldberg Syndrome
Conductive hearing impairment, Ventriculomegaly, Umbilical hernia, Low-set ears, Posteriorly rota... ORPHA:2462
Charge Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the cerebellum, Abnormal soft palate morphology,... ORPHA:138
Hennekam-Beemer Syndrome
Conductive hearing impairment, Ventriculomegaly, Pneumonia, Hearing impairment, Optic atrophy, Mi... ORPHA:2135
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Short nose, Excessive salivation, Everted lower lip vermilion, Smooth philtrum, Ten... ORPHA:261144
Autosomal Recessive Multiple Pterygium Syndrome
Conductive hearing impairment, Umbilical hernia, Low-set ears, Hearing impairment, Spina bifida o... ORPHA:2990
Hydrolethalus
Polyhydramnios, Low-set, posteriorly rotated ears, Arrhinencephaly, Anencephaly, Low-set ears, Re... ORPHA:2189
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Ventriculomegaly, Low-set ears, External ear malformation, Sensori... ORPHA:254346
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes, Stenosis of the external audit... ORPHA:2878
Rhyns Syndrome
Conductive hearing impairment OMIM:602152
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy OMIM:613807
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Posteriorly rotated ears, Sensorineural hearing impairment, Mixed hearing impairment, Micrognathi... OMIM:606164
Mend Syndrome
Microretrognathia, Dandy-Walker malformation, Hydrocephalus, Low-set ears OMIM:300960
Waardenburg Syndrome Type 1
Spina bifida, Short nose, Tented upper lip vermilion, Wide nasal bridge, Meningocele, Cleft upper... ORPHA:894
Cockayne Syndrome Type 1
Enamel hypoplasia, Delayed eruption of primary teeth, Tremor, Male hypogonadism, Macrotia, Hypopl... ORPHA:90321
Cerebrofacioarticular Syndrome
Lymphedema, Conductive hearing impairment, Ventriculomegaly, Micrognathia, Microtia, Hypoplasia o... ORPHA:314679
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Hydrocephalus ORPHA:2635
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Ventriculomegaly, Micrognathia, Sensorineural hearing impairment ORPHA:261197
Multiple Pterygium-Malignant Hyperthermia Syndrome
Polyhydramnios, Abnormal circulating creatine kinase concentration, Conductive hearing impairment... ORPHA:2215
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Short philtrum, Short nose, Downturned corners of mouth, Dental crow... OMIM:301044
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Peho Syndrome
Pachygyria, Short nose, Open mouth, Hypoplasia of the corpus callosum, Tented upper lip vermilion... OMIM:260565
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Optic nerve hypoplasia, Colpocephaly OMIM:609053
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Atopic dermatitis, Head titub... ORPHA:3240
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Renpenning Syndrome
Heterotaxy ORPHA:3242
Meckel Syndrome, Type 6
Anencephaly, Hydrocephalus, Cleft upper lip, Cleft palate OMIM:612284
Adult Krabbe Disease
Erectile dysfunction, Increased CSF protein, Prolonged brainstem auditory evoked potentials, EEG ... ORPHA:206448
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Optic atrophy, EEG abnormality, Hydrocephalus ORPHA:272
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Hydrocephalus ORPHA:2736
Aase-Smith Syndrome I
Abnormality of the pinna, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Waardenburg Syndrome
Conductive hearing impairment, Hearing impairment, Myelomeningocele, Aganglionic megacolon ORPHA:3440
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Williams-Beuren Region Duplication Syndrome
Overfolded helix, Ventriculomegaly, Chronic otitis media, Micrognathia, Hydrocephalus OMIM:609757
Mohr Syndrome
Agenesis of central incisor, Conductive hearing impairment, Micrognathia, Hydrocephalus, Hypoplas... OMIM:252100
Stickler Syndrome, Type I
Conductive hearing impairment, Sensorineural hearing impairment, Osteoarthritis OMIM:108300
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hearing impairment, Otitis media, Hydrocephalus OMIM:616482
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus ORPHA:141333
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Conductive hearing impairment, Cranial nerve compression, Pulsatile tinnitus, Paroxysmal ... ORPHA:276621
Hemifacial Microsomia
Anotia, Unilateral external ear deformity, Branchial anomaly, Conductive hearing impairment, Atre... OMIM:164210
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Conductive hearing impairment, Atresia of the external auditory c... ORPHA:1393
Cockayne Syndrome A
Delayed eruption of primary teeth, Carious teeth, Tremor, Hypoplasia of teeth, Normal pressure hy... OMIM:216400
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Oligohydramnios, Overfolded helix, Conductive hearing impairment, Natal tooth, Lo... OMIM:300373
Cutis Laxa, Autosomal Recessive, Type Iib
Protruding ear, Hydrocephalus OMIM:612940
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, Tented upper lip vermilion, Wide nasal bridge OMIM:616025
Meckel Syndrome, Type 5
Anencephaly, Cleft upper lip, Cleft palate OMIM:611561
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly, Carious teeth, Oligodontia, Selective tooth agenesis, Xerostomia, Ab... OMIM:129900
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Mild hearing impairment, Low-set ears, Tubulointerstitial nephritis, Micrognathia, Hydrocephalus,... ORPHA:459061
Edinburgh Malformation Syndrome
Low-set ears, Micrognathia, Hydrocephalus ORPHA:1895
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Osteomyelitis, Facial paralysis, Hearing impairment, Facial palsy, Optic atrophy, ... OMIM:259700
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Abnormal dental enamel morphology, Mandibular prognathia, Hydrocephalus ORPHA:2180
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Facial palsy, Mixed hearing impairment, Optic atrophy, Delayed eruption of... OMIM:218400
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Shprintzen-Goldberg Craniosynostosis Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Abnormality of the pinna, Umbil... OMIM:182212
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Facial palsy, Mixed hearing impairment OMIM:123000
Hennekam Syndrome
Delayed eruption of teeth, Hydrops fetalis, Lymphedema, Conductive hearing impairment, Pericardia... ORPHA:2136
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Polyhydramnios, Crumpled ear, Conductive hearing im... OMIM:600373
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Eczema, Umbilical hernia ORPHA:1001
Van Maldergem Syndrome 2
Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural hearing impa... OMIM:615546
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Microretrognathia, Ventriculomegaly, Abnormality of the outer ea... ORPHA:261344
Leukocyte Adhesion Deficiency Type Ii
Small earlobe, Severe periodontitis, Abnormal isohemagglutinin level, Palpebral edema, Conductive... ORPHA:99843
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Recurrent otitis media, Papilledema, Umbilical hernia, Hearing impairm... OMIM:309900
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Short philtrum, Agenesis of corpus callosum, Open mouth, Tented upper ... OMIM:619148
Thanatophoric Dysplasia Type 1
Polyhydramnios, Ventriculomegaly, Increased nuchal translucency, Hearing impairment, Hydrocephalus ORPHA:1860
Van Maldergem Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural hearing impa... OMIM:601390
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus, Umbilical hernia OMIM:175700
Muenke Syndrome
Sensorineural hearing impairment, Hydrocephalus ORPHA:53271
Bosma Arhinia Microphthalmia Syndrome
Hypoplasia of teeth, Absent tragus, Conductive hearing impairment, Atresia of the external audito... OMIM:603457
Developmental And Epileptic Encephalopathy 80
Long philtrum, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Vent... OMIM:618580
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polyhydramnios, Ventriculomegaly, Hydranencephaly, Micrognathia, Hydrocephalus, Dandy-Walker malf... OMIM:225790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Hydrocephalus OMIM:615249
Acrofacial Dysostosis 1, Nager Type
Conductive hearing impairment, Atresia of the external auditory canal, Aganglionic megacolon, Tri... OMIM:154400
Multiple Sulfatase Deficiency
Ventriculomegaly, Increased CSF protein, Hearing impairment, Periorbital edema, Hydrocephalus OMIM:272200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Atresia of the external auditory canal, Conjunctivitis, Blephariti... OMIM:106260
Pallister-Hall Syndrome
Natal tooth, Pituitary hypothyroidism, Abnormal basal ganglia MRI signal intensity, Arrhinencepha... ORPHA:672
Down Syndrome
Conductive hearing impairment, Aganglionic megacolon, Microtia OMIM:190685
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Oculocerebrocutaneous Syndrome
Ventriculomegaly, External ear malformation, Hearing impairment, Hydrocephalus, Dandy-Walker malf... ORPHA:1647
Mucopolysaccharidosis, Type Vii
Hearing impairment, Hydrops fetalis, Hydrocephalus, Umbilical hernia OMIM:253220
Coccidioidomycosis
Peritonitis, Skin rash, Pericarditis, Abnormal sperm morphology, Pneumonia, Increased circulating... ORPHA:228123
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hypoplastic helices, Low-set, posteriorly rotated ears, Prominent... ORPHA:2437
Meier-Gorlin Syndrome 6
Microretrognathia, Conductive hearing impairment, Umbilical hernia, Posteriorly rotated ears, Ste... OMIM:616835
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus ORPHA:2183
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia ORPHA:529808
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Taurodontia, Conductive hearing impairment, Man... ORPHA:2710
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia ORPHA:529799
Hajdu-Cheney Syndrome
Conductive hearing impairment, Umbilical hernia, Low-set ears, Dental malocclusion, Micrognathia,... OMIM:102500
Familial Lambdoid Synostosis
External ear malformation, Protruding ear, Round ear, Hydrocephalus ORPHA:3267
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Low-set ears, Posteriorly rotated ears, Spontaneous abortion, Micrognathia, Hydr... ORPHA:1865
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Thickened helices, Macrotia, Aplasia/Hypoplasia of the earlobes, Umbilical hernia, Hypoplasia of ... ORPHA:1555
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Irregular menstruation, Mandibular prognathia, Hypogonadism, Hearing i... OMIM:101800
Keppen-Lubinsky Syndrome
Short philtrum, Open mouth, Tented upper lip vermilion, High palate, High, narrow palate, Microce... OMIM:614098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Anencephaly, Optic nerve dysplasia, Hydrocephalus, Dandy-Walker malformation OMIM:615287
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia OMIM:171480
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Hemangioblastoma
Vertigo, Hydrocephalus ORPHA:252054
Otopalatodigital Syndrome, Type I
Conductive hearing impairment, Multiple impacted teeth OMIM:311300
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Peau d'orange, Inflammation of the large intestine, Decreased specific anti-po... OMIM:614576
Charcot-Marie-Tooth Disease Type 1F
Head tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve h... ORPHA:101085
Giant Cell Arteritis
Vertigo, Pericarditis, Conductive hearing impairment, Hearing impairment, Optic atrophy, Arthritis ORPHA:397
Raine Syndrome
Enamel hypoplasia, Mandibular prognathia, Natal tooth, Abnormality of the pinna, Low-set ears, Po... OMIM:259775
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Ascites, Hydrocephalus OMIM:269920
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Ritscher-Schinzel Syndrome 1
Low-set ears, Micrognathia, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Postaxial Acrofacial Dysostosis
Low-set ears, Cupped ear, Micrognathia, Conductive hearing impairment OMIM:263750
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Bilateral sens... ORPHA:1435
Distal Tetrasomy 15Q
Low-set ears, Cupped ear, Sensorineural hearing impairment, Abnormality of the helix, Dandy-Walke... ORPHA:314588
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Mixed hearing impairment, Mandibular prognathia, Dental malocclusion OMIM:603463
Vacterl With Hydrocephalus
Polyhydramnios, Anotia, Spina bifida, Arrhinencephaly, Abnormality of the outer ear, Aqueductal s... ORPHA:3412
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Ventriculomegaly, Low-set ears, Posteriorly rotated ears, Edema, Hydrocephalus OMIM:617822
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Increased CSF protein, Hearing impairment, Opisth... ORPHA:206436
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Polyhydramnios, Delayed eruption of teeth, Overfolded helix, Conductive hearing impairment, Senso... OMIM:300990
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Hydrocephalus ORPHA:163596
Otopalatodigital Syndrome, Type Ii
Stillbirth, Conductive hearing impairment, Low-set ears, Posteriorly rotated ears, Micrognathia, ... OMIM:304120
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Mixed hearing impairment OMIM:126550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
H Syndrome
Azoospermia, Bronchiectasis, Amenorrhea, Hearing impairment, Upper eyelid edema, Chronic rhinitis... ORPHA:168569
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Long philtrum, Thin vermilion border, Hypoplasia of the corpus callosum, Tented upper lip vermili... OMIM:618056
Craniofacial Dyssynostosis With Short Stature
Abnormal location of ears, Ventriculomegaly, Hydrocephalus OMIM:218350
Fanconi Anemia, Complementation Group F
Polyhydramnios, Pneumonia, Conductive hearing impairment, Microtia OMIM:603467
Mycophenolate Mofetil Embryopathy
Anotia, Hydrops fetalis, Atresia of the external auditory canal, Hearing impairment, Micrognathia... ORPHA:268249
Hyperphosphatasia With Mental Retardation Syndrome 2
Short nose, Ventriculomegaly, Tented upper lip vermilion, Wide nasal bridge, Cleft palate, Microc... OMIM:614749
Fg Syndrome Type 1
Ventriculomegaly, Umbilical hernia, Cupped ear, Stenosis of the external auditory canal, Sensorin... ORPHA:93932
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Sensorineural hearing impairment, Hydrocephalus, Opti... ORPHA:585
Amelocerebrohypohidrotic Syndrome
EEG abnormality, Hydrocephalus ORPHA:1946
Achondroplasia
Hearing impairment, Hydrocephalus, Functional abnormality of the middle ear ORPHA:15
Kapur-Toriello Syndrome
Low-set ears, Conductive hearing impairment OMIM:244300
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hearing impairment, Hydrocephalus ORPHA:2169
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Microretrognathia, Low-set ears, Cupped ear, Conjunctivitis, Mixed hearing impairm... OMIM:615560
Icf Syndrome
Decreased circulating antibody level, Umbilical hernia, Low-set ears, Micrognathia, Communicating... ORPHA:2268
Isotretinoin-Like Syndrome
Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Bilateral se... ORPHA:2306
Charge Syndrome
Holoprosencephaly, Arrhinencephaly, Decreased response to growth hormone stimuation test, Umbilic... OMIM:214800
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Conductive hearing impairment, Cranial nerve compression, Pulsatile tinnitus, Paroxysmal ... ORPHA:29072
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Abnormality of the pinna ORPHA:1297
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Long philtrum, Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Smooth philtrum, ... OMIM:617527
Functioning Gonadotropic Adenoma
Infertility, Abnormality of the menstrual cycle, Amenorrhea, Oligospermia, Impotence, Decreased f... ORPHA:91348
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Chronic otitis media, Mixed hearing impairment OMIM:613627
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Sensorineural hearing impairment, Mixed hearing impairment, Premature osteoarthritis, Recurrent p... OMIM:215150
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Micrognathia, Microtia, Oligohydramnios ORPHA:1834
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hyperplasia of the maxilla, Ventriculomegaly, Recurrent otitis media, Abnormality of the Eustachi... ORPHA:513456
Campomelic Dysplasia
Polyhydramnios, Low-set ears, Hearing impairment, Micrognathia, Hydrocephalus OMIM:114290
16P13.2 Microdeletion Syndrome
Ventriculomegaly, Hearing impairment, Dilated third ventricle, Hypogonadism, Hydrocephalus ORPHA:500055
Cockayne Syndrome B
Delayed eruption of primary teeth, Carious teeth, Tremor, Hypoplasia of teeth, Normal pressure hy... OMIM:133540
Multiple Pterygium Syndrome, Escobar Variant
Conductive hearing impairment, Umbilical hernia, Exostosis of the external auditory canal, Low-se... OMIM:265000
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Narrow internal auditory canal, Conductive hearing impairment,... ORPHA:861
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment OMIM:602080
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Fanconi Anemia, Complementation Group B
Overfolded helix, Hypergonadotropic hypogonadism, Ventriculomegaly, Low-set ears, Hypogonadism, H... OMIM:300514
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Abnormal dental enamel morphology, Ventriculomegaly, Low-set ears, Hypoplasia of ... ORPHA:1812
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Septo-optic dysplasia, Optic atrophy, Micrognathia, Hydrocephalus, Microtia ORPHA:3301
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Low-set ears, Mixed hearing impairment, Microtia, Overfolded helix OMIM:608624
Rhombencephalosynapsis
Microretrognathia, Low-set, posteriorly rotated ears, Ventriculomegaly, Aganglionic megacolon, Se... ORPHA:59315
Central Precocious Puberty
Hydrocephalus ORPHA:759
Trisomy 10P
Low voltage EEG, Macrotia, EEG with focal spikes, EEG with burst suppression, Low-set ears, Poste... ORPHA:171929
15Q Overgrowth Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Mandibular prognathia, Abnormality of the o... ORPHA:314585