Gene Summary

Name:
chromodomain helicase DNA binding protein 7
Synonyms:
Cycn,  Obt,  A730019I05Rik,  Edy,  Dz,  GENA 60,  Todo,  Lda,  Whi,  Gena 52,  GENA 47,  Cyn,  Flo,  WBE1,  Mt

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal locomotor activation Chd7Whi HET   Early adult 1.91×10-05
decreased lean body mass Chd7Whi HET Early adult 8.65×10-05
decreased body length Chd7Whi HET Early adult 4.87×10-05
increased circulating glucose level Chd7Whi HET Early adult 9.76×10-05
decreased body weight Chd7Whi HET Early adult 9.01×10-06

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Viewing: all phenotypes

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.

Legacy Phenotype Associated Images

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Human diseases caused by Chd7 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 Chd7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
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
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Deafness, Autosomal Dominant 11
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 48
Abnormal vestibular function, Profound sensorineural hearing impairment OMIM:609439
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Conductive hearing impairme... ORPHA:90646
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Autosomal Recessive 12
Abnormal vestibular function, Prelingual sensorineural hearing impairment OMIM:601386
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Deafness, Autosomal Recessive 101
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:615837
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Usher Syndrome, Type If
Congenital sensorineural hearing impairment, Abnormal vestibular function OMIM:602083
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... OMIM:616030
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... OMIM:614897
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Deafness-Oligodontia Syndrome
Congenital sensorineural hearing impairment OMIM:221740
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment OMIM:612433
Deafness, Autosomal Dominant 78
Profound sensorineural hearing impairment OMIM:619081
Deafness, Autosomal Dominant 79
Progressive sensorineural hearing impairment OMIM:619086
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Absence of pubertal development, Decrease... OMIM:614837
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Multiple Synostoses Syndrome 4
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of... OMIM:604213
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Macrocephaly-Developmental Delay Syndrome
Mandibular prognathia, Microretrognathia, Frontal bossing, Palpebral edema, Craniosynostosis, Abn... ORPHA:397612
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Spinocerebellar Ataxia 45
Cerebellar atrophy OMIM:617769
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy OMIM:616410
Leukoencephalopathy With Vanishing White Matter 5
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... OMIM:620315
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy OMIM:605388
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... OMIM:614842
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... OMIM:614839
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Conductive h... OMIM:184460
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Self-injurious behavior, Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
17Q24.2 Microdeletion Syndrome
Otosclerosis, Triangular face, Failure to thrive in infancy, Micrognathia, Aggressive behavior, S... ORPHA:529962
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy ORPHA:211017
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Obesity, Atopic dermatitis, Upper eyelid edema, Hip dysplasia, Camp... ORPHA:412035
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Martsolf Syndrome 2
Short stature, Hypogonadotropic hypogonadism, Microcephaly, Lateral ventricle dilatation, Hypopla... OMIM:619420
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange... OMIM:185800
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy OMIM:619333
Cataract-Ataxia-Deafness-Retardation Syndrome
Adult onset sensorineural hearing impairment OMIM:212710
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
X-Linked Intellectual Disability, Shashi Type
Coarse facial features, Palpebral edema, Obesity, Prominent supraorbital ridges, Blepharophimosis... ORPHA:85286
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Frontal bossing, Epicanthus, Sandal gap, Short stature, Highly arched eyebrow, Malar fl... ORPHA:261279
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
X-Linked Intellectual Disability, Stevenson Type
Abnormal pinna morphology, Palpebral edema, Tapered finger, Obesity, Genu valgum, Thickened helic... ORPHA:85325
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy OMIM:615268
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Short stature, Femoral bowing present at birth, straightening with time, Dentinogen... OMIM:166220
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Autosomal Recessive Spastic Paraplegia Type 24
Sensorineural hearing impairment ORPHA:101004
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Short stature, Microcephaly, Long nose, Aggressive behavior, Protruding ear, EEG abnormality, Gai... ORPHA:85329
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Aggressive behavior, Cryptorchidism, Simplified gyral patt... OMIM:619244
Multiple Synostoses Syndrome 1
Narrow face, Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lowe... OMIM:186500
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ectopia lentis, Prominent occiput, Abnormal helix morphology, Iris coloboma, Ptosis ORPHA:1259
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function OMIM:276900
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Fraxe Intellectual Disability
Epicanthus, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Prominent ear helix, ... ORPHA:100973
Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts
Sensorineural hearing impairment ORPHA:139444
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Syndactyly, Short stature, Highly arched eyebrow, Bilateral ptosis, Synophrys, ... OMIM:614701
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia ORPHA:101071
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy OMIM:617133
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... OMIM:146110
Lissencephaly 4
Short stature, Simplified gyral pattern, Growth delay, Colpocephaly, Lissencephaly, Primary micro... OMIM:614019
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... OMIM:613443
Distal Xq28 Microduplication Syndrome
Short stature, Predominantly lower limb lymphedema, Impulsivity, Aggressive behavior, Metatarsus ... ORPHA:293939
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy OMIM:615596
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment ORPHA:294
Crouzon Syndrome
Ptosis, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Optic atrophy, Brachycephaly, M... ORPHA:207
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Microcephaly 5, Primary, Autosomal Recessive
Short stature, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex,... OMIM:608716
Osteogenesis Imperfecta, Type I
Otosclerosis, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Dentinogenesis imperfect... OMIM:166200
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy ORPHA:1513
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Sensorineural hearing impairment OMIM:300905
Intellectual Developmental Disorder, X-Linked 98
Long nose, Self-biting, Abnormal repetitive mannerisms, Hyperactivity, Anteverted nares, Ataxia, ... OMIM:300912
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Epicanthus, Dystonia, Posteriorly rotated ears, Ataxia, Tapered finger, Pr... OMIM:617804
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Glycosylphosphatidylinositol Biosynthesis Defect 17
Abnormal ear morphology, Aggressive behavior, Dysplastic corpus callosum, Growth delay, Primary m... OMIM:618010
Burn-Mckeown Syndrome
Protruding ear, Short philtrum, Atrial septal defect, Conductive hearing impairment, Bifid uvula,... OMIM:608572
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Epicanthus, Palpebral edema, Abnormal repetitive mannerisms, Protruding ea... ORPHA:261144
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Osteopenia, Relative macrocephaly, Severe short stature, Posteriorly rotated ears, Eczema, Microc... OMIM:618336
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventri... ORPHA:77299
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Leukoencephalopathy, Lateral ventricle dilatation, Progressive l... OMIM:615889
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism OMIM:615266
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Overweight, Dilated third ventricle, Hydrocephalus, Sensorineural hearing impairme... OMIM:619575
Spinocerebellar Ataxia Type 38
Cerebellar atrophy ORPHA:423296
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Diffuse cerebral atrophy ORPHA:363654
Spinocerebellar Ataxia Type 31
Cerebellar atrophy ORPHA:217012
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Sensorineural hearing impairment, Hearing impairment OMIM:310490
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion ORPHA:411777
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior, Low-set ears ORPHA:436151
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Low-set, posteriorly rotated ears, Palpebral edema, Highly arched eyebrow, Growth delay, Long eye... ORPHA:466688
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Spinocerebellar Ataxia 37
Cerebellar atrophy OMIM:615945
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
20Q11.2 Microduplication Syndrome
Periorbital edema, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Low-set, posteriorl... ORPHA:363659
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Leukoencephalopathy, Cerebral ... OMIM:221770
Spinocerebellar Ataxia 31
Cerebellar atrophy OMIM:117210
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Immunodeficiency 32B
Neutrophilia, Cerebral calcification, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxid... OMIM:226990
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly OMIM:618266
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Growth delay, Large earlobe, Lateral ventricle dilatation, Bruxism, Thin corpus cal... OMIM:615716
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Abnormal pinna morphology, Short stature, Anteverted nares, Impaired pain sensatio... ORPHA:261211
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Intellectual Developmental Disorder, Autosomal Dominant 22
Short stature, Abnormal pinna morphology, Proportionate short stature, Depressed nasal bridge, Lo... OMIM:612337
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Dilated third ventricle, Dysplastic corpus callosum, Sensorineural hea... ORPHA:544488
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Microcephaly, Sensorineural hearing impairment, Lateral ... OMIM:617751
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cerebral white matter atrophy, Periventricular leukomalacia, Short stature, Impulsivity, Microcep... ORPHA:500055
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder, Abnorm... OMIM:618709
Luscan-Lumish Syndrome
Short stature, Aggressive behavior, Long nose, Irregular menstruation, Advanced ossification of c... OMIM:616831
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
7Q31 Microdeletion Syndrome
Prominent fingertip pads, Telecanthus, Epicanthus, Torticollis, Hyperactivity, Hypoplasia of the ... ORPHA:251061
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Posteriorly rotated ears, Ataxia, Protruding ear, Upper eyelid edema, Long eyelashes, Low-set ear... OMIM:616819
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Small for gestational age, Abnormal Eustachi... ORPHA:199302
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, Posteriorly rotated ears, Aggressive behavior, Prominent supraorbital ridges, Low-set... OMIM:619548
Otosclerosis 10
Otosclerosis OMIM:615589
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Round face, Corneal opacity, Posteriorly rotated ears, Micrognathia, Keratitis, Synophrys, Microt... OMIM:602562
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Azoospermia, Focal T2 ... OMIM:613724
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Mucopolysaccharidosis Type 2
Otosclerosis, Coarse facial features, Hyperactivity, Corneal opacity, Papilledema, Impulsivity, A... ORPHA:580
Facioscapulohumeral Dystrophy
Abnormal eyelash morphology, Sensorineural hearing impairment, Abnormal retinal vascular morpholo... ORPHA:269
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... OMIM:617668
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation... OMIM:619517
Poikiloderma With Neutropenia
Frontal bossing, Skin rash, Short stature, Edema, Micrognathia, Sparse eyebrow, Carious teeth, Re... OMIM:604173
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Progressive hearing impairmen... OMIM:614296
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Bilateral Generalized Polymicrogyria
Short stature, Microcephaly, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, Growt... ORPHA:208447
Pyruvate Dehydrogenase E1-Alpha Deficiency
Periventricular leukomalacia, Small for gestational age, Microcephaly, Partial agenesis of the co... ORPHA:79243
Dystonia With Cerebellar Atrophy
Cerebellar atrophy OMIM:611694
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Unilateral cryptorchidism, Impulsivity, Aggressive behavior, Attention deficit hy... OMIM:618286
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... OMIM:601457
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Posteriorly rotated ears, Tapered finger, Narrow jaw, Clinodactyly of the 5th finger, Low-set ear... OMIM:618147
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Phelan-Mcdermid Syndrome
Micrognathia, Lymphedema, Protruding ear, Clinodactyly of the 5th finger, Abnormal repetitive man... OMIM:606232
Chromosome 3Q29 Deletion Syndrome
Narrow face, Hyperactivity, Small for gestational age, Posteriorly rotated ears, Tapered finger, ... OMIM:609425
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Absent eyelashes, Hypoplasia of the maxilla, Oval face, Lacrimal duct atresia, ... OMIM:106260
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy OMIM:614706
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Failure to thrive, Anteverted nares, Depressed nasal bridge, Microcephaly, Repe... ORPHA:513456
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland... OMIM:612702
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy OMIM:618741
Developmental And Epileptic Encephalopathy 81
EEG with burst suppression, Sensorineural hearing impairment OMIM:618663
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, Cryptorchidism, Hypomagnesemia, Attention deficit hyperactivity disorde... OMIM:619908
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Lateral ventricle dilatation, Dysphagia, Basal gang... OMIM:607596
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Prominent nose, Long nose, Cryptorchidism, Gait ataxia, Macrocephaly, Macrotia, Ab... OMIM:300486
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Turricephaly, Micrognathia, Brushfield spots, Metatarsus a... OMIM:214110
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Coronal craniosyno... OMIM:614188
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Sunct Syndrome
Restlessness, Palpebral edema, Facial edema, Ear pain, Agitation, Conjunctival hyperemia, Ptosis ORPHA:57145
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Otitis externa, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Muckle-Wells Syndrome
Maculopapular exanthema, Short stature, Clubbing of fingers, Conjunctivitis, Recurrent aphthous s... OMIM:191900
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment OMIM:620009
Peho Syndrome
Epicanthus, Palpebral edema, Tapered finger, External ear malformation, Optic atrophy, Pedal edem... ORPHA:2836
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Decreased body weight, Ataxia, Microcephaly, Long nose, Loss of ability to walk in first decade, ... OMIM:300243
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Synophrys, Den... OMIM:615541
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Postnatal growth retardation, Sensor... ORPHA:1435
Fg Syndrome 4
Sensorineural hearing impairment OMIM:300422
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Simosa Craniofacial Syndrome
Abnormal pinna morphology, Posteriorly rotated ears, Underdeveloped nasal alae, Long nose, Hearin... OMIM:182150
Glass Syndrome
Restlessness, Broad-based gait, Hyperactivity, Short stature, Posteriorly rotated ears, Anteverte... OMIM:612313
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Simplified gyral pattern, Lateral ventricle dilatation, Lissencepha... ORPHA:284417
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment ORPHA:71289
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Short stature, Low-set ears OMIM:618330
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Mic... ORPHA:79113
Spastic Paraplegia 51, Autosomal Recessive
Short stature, Microcephaly, Long nose, Inability to walk, Bulbous nose, Overweight, Wide nasal b... OMIM:613744
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Choanal atresia, Promin... ORPHA:1716
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Sensorineural hearing impairment, Profound sensorineural hearing impairment, Hearing impairment OMIM:619196
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Ayme-Gripp Syndrome
Mandibular prognathia, Brachycephaly, Short stature, Tapered finger, Microtia, Low-set ears, Cran... OMIM:601088
Schilbach-Rott Syndrome
Posteriorly rotated ears, Short stature, Prominent nose, Long nose, Microcephaly, Microtia, Atten... OMIM:164220
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Mullegama-Klein-Martinez Syndrome
Frontal bossing, Short stature, Facial palsy, Curly eyelashes, Micrognathia, Sensorineural hearin... OMIM:301022
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Gapo Syndrome
Keratoconus, Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Palpebral edema, ... ORPHA:2067
16P13.11 Microduplication Syndrome
Aggressive behavior, Coarctation of aorta, Transposition of the great arteries, Attention deficit... ORPHA:261243
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Short stature, Prominent nasal bridge, Broad nasal tip, Long nose, Cryp... OMIM:616541
Masa Syndrome
Short stature, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Congenital Hydrocephalus
Posteriorly rotated ears, Abnormal cortical gyration, Hydrocephalus, Sensorineural hearing impair... ORPHA:2185
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Arachnodactyly, Pro... OMIM:616914
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Inability to walk, Sensorineural he... ORPHA:457351
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi... ORPHA:488627
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal salivary gland ... ORPHA:2363
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Absence of pubertal de... OMIM:610628
Yao Syndrome
Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomi... OMIM:617321
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Decreased... OMIM:614841
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Lateral ventricle dilatation,... OMIM:617296
Chromosome 9P Deletion Syndrome
High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, Long toe, Hypo... OMIM:158170
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Di... OMIM:613154
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Short stature, Broad nasal tip, Long nose, Wide nasal bridge, ... OMIM:619995
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Craniosynostosis 6
Microcephaly, Sensorineural hearing impairment, Lateral ventricle dilatation, Spina bifida occult... OMIM:616602
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Johnson Neuroectodermal Syndrome
Absent eyebrow, Failure to thrive, Choanal atresia, Absent eyelashes, Preaxial hand polydactyly, ... ORPHA:2316
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Tortuosity of conjunctival vessels, Abnormal facial shape, He... OMIM:248510
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... OMIM:618841
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Sensorineural hearing i... OMIM:620075
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Epicanthus, Hyperactivity, Short stature, Infra-orbital crease, Highly arched eyebrow, Micrognath... OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 56
Impulsivity, Sensorineural hearing impairment, Protruding ear, Lateral ventricle dilatation, Seco... OMIM:617854
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge... ORPHA:284169
Stxbp1-Related Encephalopathy
Hyperactivity, Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Microphthalmia, Isolated, With Coloboma 6
Coloboma OMIM:613703
Seckel Syndrome 5
Hypospadias, Prominent nasal bridge, Selective tooth agenesis, Cryptorchidism, Cleft palate, Olig... OMIM:613823
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:618736
Hypotonia-Cystinuria Syndrome
Failure to thrive, Posteriorly rotated ears, Decreased response to growth hormone stimulation tes... OMIM:606407
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short stature, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Long nose, Und... OMIM:615866
Lacrimoauriculodentodigital Syndrome 2
Absent lacrimal punctum, Duplication of thumb phalanx, Abnormal thumb morphology, Carious teeth, ... OMIM:620192
Chromosome 2Q37 Deletion Syndrome
Short fourth metatarsal, Brachycephaly, Abnormal repetitive mannerisms, Short phalanx of finger, ... OMIM:600430
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Occipital encephalocele, Dandy-Walker malformation, Failure to... ORPHA:397715
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Hypoglycemia, Hypogonadism, Hypocalcem... ORPHA:163693
Cach Syndrome
Premature ovarian insufficiency, Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Seconda... ORPHA:135
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Frontal bossing, Telecanthus, Coarse facial features, Palpebral edema, Ataxia, Broad-based gait, ... ORPHA:397709
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Conjunctivitis, Recurrent sinusitis OMIM:613493
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Sple... OMIM:612526
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia OMIM:618876
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy OMIM:150700
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Bruxism, Falls, Inappropriate laughter, Dystonia, Abnormal r... OMIM:619150
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Large earl... OMIM:620317
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Sensorineural hearing impairment, Optic atrophy OMIM:620086
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Small for gestational age, Abnormal pinna morphology, Microcephaly, Sev... ORPHA:3078
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons OMIM:619303
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... OMIM:614858
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy OMIM:600143
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment ORPHA:1383
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata... OMIM:607485
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Huntington Disease
Caudate atrophy, Oral-pharyngeal dysphagia, Compulsive behaviors, Decreased body mass index, Abno... ORPHA:399
Autosomal Agammaglobulinemia
Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malforma... ORPHA:33110
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Harrod Syndrome
Microcephaly, Long nose, Cryptorchidism, Protruding ear, Intrauterine growth retardation, Failure... ORPHA:2115
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment ORPHA:1490
Cockayne Syndrome Type 2
Mandibular prognathia, Long face, Ataxia, Delayed eruption of primary teeth, Uveitis, Development... ORPHA:90322
Ravine Syndrome
Ataxia, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive ORPHA:99852
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Anemia ORPHA:371
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy ORPHA:98769
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy OMIM:616187
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Gemignani Syndrome
Sensorineural hearing impairment ORPHA:2074
Recon Progeroid Syndrome
Attached earlobe, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Underdeveloped na... OMIM:620370
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... ORPHA:2045
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Tinnitus, Hydrocephalus ORPHA:73256
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly OMIM:615938
Septopreoptic Holoprosencephaly
Impulsivity, Perisylvian polymicrogyria, Coarctation of aorta, Dysphagia, Ethmoidal encephalocele ORPHA:280195
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Hyperactivity, Optic atrophy, Clinodactyly, Macrotia, Long face OMIM:300928
Kid Syndrome
Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Prelingual sensorineural hearing imp... ORPHA:477
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Epicanthus, Telecanthus, Short stature, Micrognathia, Postnatal growth retardation, Wide anterior... OMIM:225410
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Lateral ventricle dilatati... OMIM:618914
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Hyperactivity, Small for gestational age, Eczema, Highly arched eyebrow, Micrognathia... ORPHA:352490
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Intellectual Developmental Disorder, Autosomal Recessive 73
Epicanthus, Posteriorly rotated ears, Impulsivity, Gait ataxia, Low-set ears, Dolichocephaly, Cli... OMIM:619717
Coffin-Siris Syndrome 6
Frontal bossing, Epicanthus, Coarse facial features, Posteriorly rotated ears, Short stature, Mic... OMIM:617