Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GATA binding protein 3
Synonyms:
Gata-3,  jal

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 Gata3 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 associated to Gata3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Pseudopapilledema, Sensorineural hearing impairment OMIM:146255
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Cleft palate ORPHA:2237

The table below shows human diseases predicted to be associated to Gata3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... ORPHA:79492
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va... ORPHA:2972
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 25
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Deafness, Autosomal Dominant 11
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Auriculocondylar Syndrome 4
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Postauricular skin tag, Facial... OMIM:620457
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Deafness, Autosomal Recessive 67
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... OMIM:610265
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Deafness, Autosomal Recessive 31
Absent vestibular function, Sensorineural hearing impairment OMIM:607084
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Deafness, Autosomal Recessive 89
Vestibular hypofunction, Sensorineural hearing impairment OMIM:613916
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Deafness, Autosomal Recessive 94
Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:618434
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Dominant 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
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 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
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 Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Abn... ORPHA:3145
Otodental Syndrome
Abnormality of canine, Carious teeth, Periodontitis, Progressive sensorineural hearing impairment... ORPHA:2791
Cleft Lip/Palate
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Dental ma... ORPHA:199306
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 15
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... OMIM:601869
Deafness, Autosomal Recessive 35
Abnormal ear morphology, Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 100
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Auriculocondylar Syndrome 2A
Low-set ears, Mandibular condyle aplasia, Microglossia, Cleft at the superior portion of the pinn... OMIM:614669
Deafness, Autosomal Recessive 63
Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:611451
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
L-Ferritin Deficiency
Alopecia OMIM:615604
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Optic atrophy, Hypoplasia of the maxilla, Midface retrusion, Protruding ear, Smooth philtrum, Thi... OMIM:618737
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Candidiasis, Familial, 1
Alopecia OMIM:114580
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Increased overbite, Protruding ear, Limited elbow... ORPHA:319171
Treacher Collins Syndrome 3
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ... OMIM:248390
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Arthrogryposis, Distal, Type 2E
Joint contracture of the hand, Absent antihelix, Micrognathia, Narrow mouth, Trismus OMIM:121070
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Sensorineural hearing impairment,... OMIM:166750
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Deafness, Autosomal Dominant 76
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618787
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
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
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Deafness, Autosomal Recessive 57
Abnormal vestibular function, Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:615837
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Preauricular skin tag, Hypoplasia of the maxilla, Cupped ear, Conductive hearing im... OMIM:616367
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Atresia of the external auditory can... ORPHA:245
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Full cheeks, Cleft palate ORPHA:2016
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ... ORPHA:79113
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Abnormal pinna morpholog... OMIM:246560
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
X-Linked Mandibulofacial Dysostosis
Webbed neck, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorl... ORPHA:1131
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Auriculocondylar Syndrome 1
Low-set ears, Mandibular condyle aplasia, Preauricular skin tag, Cupped ear, Cleft at the superio... OMIM:602483
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Abnormal mandible morphology, Irregular dentition, Cleft lower lip, Me... ORPHA:401942
Naxos Disease
Hyperhidrosis, Curly hair, Abnormality of hair texture, Woolly hair, Sparse scalp hair ORPHA:34217
Cleidocranial Dysplasia
Short face, Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Micrognathia, Gen... ORPHA:1452
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
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 Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Flat Face-Microstomia-Ear Anomaly Syndrome
Aplasia/Hypoplasia of the earlobes, High, narrow palate, Abnormal oral mucosa morphology, Flat fa... ORPHA:1968
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Treacher-Collins Syndrome
Short face, Open bite, Micrognathia, Narrow mouth, Encephalocele, Abnormality of the middle ear, ... ORPHA:861
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
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 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
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 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, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
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 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
X-Linked Intellectual Disability, Sutherland-Haan Type
Narrow face, Hypoplasia of the maxilla, Brachycephaly, Anal atresia, Mandibular prognathia, Long ... ORPHA:93950
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Hypo... OMIM:602400
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Low-set, posteriorl... ORPHA:1110
Kerion Celsi
Alopecia ORPHA:499
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Cleft Velum
Short face, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficienc... ORPHA:99772
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail OMIM:302000
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Branchiootic Syndrome
Abnormality of the outer ear, Preauricular skin tag, Branchial fistula, Atresia of the external a... ORPHA:52429
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
X-Linked Intellectual Disability, Porteous Type
Narrow face, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Mandibular prognathia, Long f... ORPHA:93945
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Midface retrusion, Hypoplasia of the zygomatic... ORPHA:1555
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Treacher Collins Syndrome 2
Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,... OMIM:613717
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening, Full cheeks, Thickened ... ORPHA:261295
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Craniofacial-Deafness-Hand Syndrome
Narrow face, Hypoplasia of the maxilla, Flat face, Camptodactyly of finger, Abnormality of the wr... ORPHA:1529
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Retrognathia, Pursed lips, Camptodactyly of finger, Elbow flexion contrac... OMIM:619110
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Low-set ears, Hypoplasia of the zygomatic bone, Umbilical hernia, Genu valgum, Low posterior hair... ORPHA:1778
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Low-set ears, Optic atrophy, Micrognathia, Narrow mouth, Short neck, Thin vermilion border OMIM:618766
Branchiogenic-Deafness Syndrome
Preauricular skin tag, Short distal phalanx of finger, Branchial fistula, Atresia of the external... OMIM:609166
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Flat face, Midface retrusion, Tooth ag... ORPHA:1248
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... ORPHA:1008
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Taurodontia, Dolichocephaly, Frontal bossing OMIM:190320
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Narrow face, Dental crowdi... ORPHA:776
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Midf... ORPHA:207
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion, Facial asymmetry OMIM:133900
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Marshall Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Flat face, Hypoplasia of the zygomatic b... ORPHA:560
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Whistling appearance, Downturned corners of mouth, Low-set, posteriorly rotated ears, Micrognathi... ORPHA:1150
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Abnorm... ORPHA:93262
14Q11.2 Microdeletion Syndrome
Long philtrum, Low-set, posteriorly rotated ears, Micrognathia, Narrow mouth, Exaggerated cupid's... ORPHA:261120
Acrofacial Dysostosis, Catania Type
Tessier cleft, Webbed neck, Abnormality of the dentition, Carious teeth, Microretrognathia, Hypop... ORPHA:1786
Aarskog-Scott Syndrome
Genu recurvatum, Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Delayed eru... ORPHA:915
Oligodontia
Short face, Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped... ORPHA:99798
Auriculocondylar Syndrome
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Dif... ORPHA:137888
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Midface retrusion, Hypopl... ORPHA:1798
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Preauricular skin tag, Conduct... OMIM:136760
Antley-Bixler Syndrome
Hypoplasia of the zygomatic bone, Long philtrum, Delayed cranial suture closure, Low-set, posteri... ORPHA:83
Meier-Gorlin Syndrome 8
Low-set ears, Micrognathia, Narrow mouth, Thick vermilion border, Microtia OMIM:617564
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Mandibular prognathia, Narrow face, Hypoplasia of the zygomatic bone, Large earlob... ORPHA:2715
Toluene Embryopathy
Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Smooth philtrum, Th... ORPHA:1920
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Midface retrusion, Short distal phalanx ... ORPHA:2776
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Micrognathia, Narrow mouth, Abnormal optic disc morphology, Shor... ORPHA:363417
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Conductive hearing impairment, Microretrognathia, Aplasi... ORPHA:1307
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, High palate, Chronic otitis media, Flat occiput, Coronal craniosynos... OMIM:614188
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Preauricular skin tag, Optic atrophy, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnorm... ORPHA:1495
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Decreased nerve conduction ... OMIM:218000
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Midface retrusion, Hypoplasia of the zygomatic bone,... ORPHA:3253
Pfeiffer Syndrome
Flat face, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Open mouth, Turricephaly... ORPHA:710
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Congenital Heart Defects, Multiple Types, 9
Low-set ears, Hypoplastic left heart, Unbalanced atrioventricular canal defect, Aortopulmonary co... OMIM:620294
Whistling Face Syndrome, Recessive Form
Whistling appearance, Microglossia, Midface retrusion, Long philtrum, Elbow flexion contracture, ... OMIM:277720
Genitopalatocardiac Syndrome
Low-set ears, Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Transpositi... OMIM:231060
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Protruding ear, High palate, Short palm ORPHA:85279
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, High palate, Narrow mouth, Retrognathia ORPHA:2528
Carvajal Syndrome
Woolly hair ORPHA:65282
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short 5th metacarpal, Short middle phalanx of the 2nd finger, Thin ver... OMIM:156510
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Flat face, Velopharyngeal insufficiency, Stapes ankylosis, Long philtrum, Intestina... OMIM:614701
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, ... ORPHA:989
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Thick lower lip vermilion... ORPHA:10
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Catel-Manzke Syndrome
Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Malar fl... ORPHA:1388
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Hearing impairment, Tetralogy of Fallot, Anterio... ORPHA:1727
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Oculoauriculofrontonasal Syndrome
Preauricular skin tag, Cleft lip, Conductive hearing impairment, Micrognathia, Narrow mouth, Ence... ORPHA:398156
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Frontal bossing, Hypoplasia of the zygomatic bone, Long philtrum ORPHA:3074
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Webbed neck, Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Trunc... OMIM:617478
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Small hand, Midface retrusion, Malar flattening, Short foot, Cleft palate OMIM:300261
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail... ORPHA:1882
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Sensorineural hearing impairment, Osteoarthritis, Cleft... ORPHA:90653
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, High, narrow palate, Hypoplasia of the maxilla, Abnormality o... ORPHA:193
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Periodontal Ehlers-Danlos Syndrome
Periodontitis, Atrophy of alveolar ridges, Agenesis of permanent teeth, Micrognathia, Gingival ov... ORPHA:75392
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sparse... OMIM:129490
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Deafness, Autosomal Recessive 121
Vestibular hypofunction, Sensorineural hearing impairment OMIM:620551
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Spastic Paraplegia 70, Autosomal Recessive
Low-set ears, Micrognathia, Ankle clonus, Sensorineural hearing impairment, High palate OMIM:620323
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla OMIM:618302
Congenital Myopathy 16
High palate, Micrognathia, Narrow mouth OMIM:618524
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Rhizomelia, Midface retrusion, Elbow dislocation, Knee dislocation, Mi... OMIM:108721
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Noonan Syndrome
Webbed neck, Abnormal EKG, Hypertrophic cardiomyopathy, Low-set, posteriorly rotated ears, Aplasi... ORPHA:648
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Crouzon Syndrome
Lambdoidal craniosynostosis, Optic atrophy, Hypoplasia of the maxilla, Coronal craniosynostosis, ... OMIM:123500
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Intellectual Disability, Birk-Barel Type
High, narrow palate, Tongue fasciculations, Micrognathia, Open mouth, Tented upper lip vermilion,... ORPHA:166108
Charlie M Syndrome
Tooth agenesis, Micrognathia, Narrow mouth, Thin vermilion border, Short philtrum, Non-midline cl... ORPHA:1406
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment ORPHA:101007
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Thin upper lip vermilion, Short neck, Cleft palate ORPHA:2015
Immunodeficiency 76
Lymphopenia, Splenomegaly, Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Bor Syndrome
Preauricular skin tag, Atresia of the external auditory canal, Branchial cyst, Hearing impairment... ORPHA:107
Acro-Renal-Mandibular Syndrome
Narrow face, Hypoplastic scapulae, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the to... ORPHA:958
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Trigeminal neuralgia, Hemifacial atrophy, Horner ... OMIM:141300
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Optic disc coloboma, Aglossia, ... OMIM:241310
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Chromosome 1P35 Deletion Syndrome
Hearing impairment, Micrognathia, Anterior creases of earlobe, Narrow mouth, Sensorineural hearin... OMIM:617930
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Velopharyngeal insufficiency, Micrognathia, Patellar dislocation, Dislocated radial... OMIM:620663
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Narrow face, Hypoplasia of the maxilla, High palate, Mandibular prognathia, Long face OMIM:300676
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Hamel Cerebro-Palato-Cardiac Syndrome
Cupped ear, Micrognathia, Narrow mouth, Malar flattening, Cleft palate ORPHA:93946
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Smal... OMIM:257850
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Abducens palsy, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Flat face, Narrow face, Dental malocclusion, Downturned corners o... ORPHA:1327
2Q32Q33 Microdeletion Syndrome
Low-set ears, Dental crowding, Long philtrum, Micrognathia, Narrow mouth, Oligodontia, Brachyceph... ORPHA:251019
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Keipert Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerate... ORPHA:2662
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Apert Syndrome
Sensorineural hearing impairment, Aplasia/Hypoplasia of the thumb, Cloverleaf skull, Flat face, H... ORPHA:87
17Q21.31 Microduplication Syndrome
Abnormality of the outer ear, Abnormality of the dentition, Micrognathia, Malar flattening, High ... ORPHA:217340
8Q22.1 Microdeletion Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Camptodacty... ORPHA:178303
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Stankiewicz-Isidor Syndrome
Low-set ears, Hearing impairment, Retrognathia, Micrognathia, Truncus arteriosus, Ventricular sep... OMIM:617516
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Conductive hearing impairment, Lobulated tongue, Micrognathia, Malar f... OMIM:252100
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Crisponi/Cold-Induced Sweating Syndrome 1
Low-set ears, Carious teeth, Retrognathia, Long philtrum, Large face, Elbow flexion contracture, ... OMIM:272430
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:617201
Porphyria Cutanea Tarda
Hyperpigmentation in sun-exposed areas, Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Short 5th toe, Intestinal malrot... OMIM:613684
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Death in childhood, Hypoplasia of the thymus OMIM:200900
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Capitate-hamate fusion, Flat face, Hearing impairment, Short toe, Knee ... OMIM:614078
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Midface retrusion, Delayed eruption of teeth, Hearing impairment, Brac... OMIM:613849
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Retrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, ... ORPHA:1812
Mullegama-Klein-Martinez Syndrome
Low-set ears, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Preauricular skin ... OMIM:301022
Lambert Syndrome
Preauricular skin tag, Wide mouth, Branchial anomaly, Malar flattening ORPHA:1296
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Micrognathia, Abnormal aortic morphology, Ventricular septal defect, Truncus arterio... ORPHA:2516
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Biparietal narrowing, Thick vermilio... ORPHA:228396
Distal Deletion 1Q
Low-set ears, Micrognathia, Smooth philtrum, Round face, Thin vermilion border ORPHA:36367
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Microretrognathia, Plagiocephaly, Hypoplasia of the zygomatic bone, Frontal bossing... OMIM:613603
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Micrognathia, Mild conducti... ORPHA:763
Van Maldergem Syndrome 1
Atresia of the external auditory canal, Micrognathia, Irregular dentition, Sensorineural hearing ... OMIM:601390
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss... OMIM:201000
Hypomandibular Faciocranial Dysostosis
Low-set ears, Bifid uvula, Midface retrusion, Aplasia/Hypoplasia of the tongue, Optic disc colobo... ORPHA:1790
Cranioectodermal Dysplasia
Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Abnormal dental enamel ... ORPHA:1515
Prolidase Deficiency
Carious teeth, Hypoplasia of the zygomatic bone, Hearing impairment, Micrognathia, Genu valgum, A... ORPHA:742
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Small hand, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia of ... OMIM:170390
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Oliver-Mcfarlane Syndrome
Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Long eyebrows, Sparse hair OMIM:275400
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai... OMIM:104100
Leopard Syndrome 2
Multiple lentigines, Cafe-au-lait spot, Curly hair OMIM:611554
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Orofaciodigital Syndrome Xix
Low-set ears, Narrow palate, Carious teeth, Cupped ear, Downturned corners of mouth, Lobulated to... OMIM:620107
Hypoglossia With Situs Inversus
Low-set ears, Microglossia, Micrognathia, Narrow mouth, Hypodontia, High palate OMIM:612776
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... OMIM:157980
Recombinant Chromosome 8 Syndrome
Low-set ears, Hearing impairment, Tetralogy of Fallot, Micrognathia, Malar flattening, Ventricula... OMIM:179613
Lowry-Maclean Syndrome
Low-set ears, High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrog... ORPHA:2409
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Umbilical hernia, Micrognathia, Narrow mouth, Brachycephaly, Deep philtrum, Thick v... OMIM:615834
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy, Hypoplasia of the zygomatic bone, Long philtrum, Micromelia, Short neck, Brachycep... OMIM:614800
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Midface retrusion, Diastema, Genu valgum, Limb undergro... OMIM:619142
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail, Anhidrosis OMIM:619209
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Midface retrusion, Frontal bossing, Abnormal palate morphology, Turric... ORPHA:1540
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Short distal phalanx of finger, Hearing i... OMIM:614261
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Posteriorl... OMIM:615502
Frontoocular Syndrome
Low-set ears, Coronal craniosynostosis, Trigonocephaly, Micrognathia, Narrow mouth, Narrow philtr... OMIM:605321
Warburg Micro Syndrome 1
Low-set ears, Optic atrophy, Micrognathia, Narrow mouth, Thin vermilion border, Macrotia, Perisyl... OMIM:600118
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Broad jaw, Hearing impairment, Macrotia, Recurrent otitis me... OMIM:609029
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Hearing impairment, Retrognathia, Micrognathia, Malar flattening, Mand... OMIM:620157
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Low-set ears, Tooth malposition, Short 5th finger, Hearing impairment, Micrognathia, Thin upper l... OMIM:618608
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Plagiocephaly, Conductive hearing impairm... ORPHA:794
Arthrogryposis, Distal, Type 2B1
Webbed neck, Long philtrum, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormality of t... OMIM:601680
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Micrognathia, Short metacarpal, Flat face, Hypoplasia of the maxilla, Short t... ORPHA:439822
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal aortic arch morphology, Ab... ORPHA:2306
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Abnormality ... ORPHA:3426
Trisomy 18P
High, narrow palate, Preauricular skin tag, Midface retrusion, Micrognathia, Narrow mouth, Thin v... ORPHA:1715
Cardiofaciocutaneous Syndrome 4
Multiple lentigines, Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Hyperhidrosis, Curly ha... OMIM:615280
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Obl... ORPHA:3352
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Tessier cleft, Conductive hearing impairment, Atresia of the external auditory ... OMIM:239800
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Widely spaced teeth, Recurrent otitis media, Thick upper lip vermilio... OMIM:617616
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Retrognathia, Pre... OMIM:602588
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Micrognathia, Cle... ORPHA:141152
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Retrognathia, Short thumb, Micrognathia, Narrow mouth, Neonatal d... OMIM:227270
Renpenning Syndrome
High, narrow palate, Narrow face, Mandibular prognathia, Macrodontia, Narrow mouth, Malar flatten... ORPHA:3242
Snijders Blok-Campeau Syndrome
Low-set ears, Midface retrusion, Umbilical hernia, Widely spaced teeth, Taurodontia, Enamel hypop... OMIM:618205
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Anal stenosis, Midface retrusion, Hearing impairment, Microdontia, Hyp... ORPHA:782
Cardiofaciocutaneous Syndrome 3
Hyperhidrosis, Curly hair OMIM:615279
Burn-Mckeown Syndrome
Bifid uvula, Preauricular skin tag, Conductive hearing impairment, Hearing impairment, Cleft uppe... OMIM:608572
Chromosome 22Q11.2 Duplication Syndrome
Low-set ears, Velopharyngeal insufficiency, Micrognathia, High palate, Abnormal pinna morphology OMIM:608363
Verheij Syndrome
Branchial cyst, Retrognathia, Ventricular septal defect, Truncus arteriosus, Renal cyst, Short ne... OMIM:615583
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Narrow face, Micrognathia, Glossoptosis, Cleft palate ORPHA:3104
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Sensorineural hearing impairment, Everted lower lip vermil... ORPHA:192
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair ORPHA:1573
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Sensorineural hearing impairment, Osteoarthritis, ... ORPHA:166100
Edinburgh Malformation Syndrome
Low-set ears, Downturned corners of mouth, Micrognathia, Narrow mouth, Low posterior hairline, Ab... ORPHA:1895
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Preauricular skin tag, Camptodactyly of fing... ORPHA:391474
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Flat face, Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Sens... OMIM:109120
Auriculocondylar Syndrome 3
Bifid uvula, Bilateral conductive hearing impairment, Retrognathia, Question mark ear, Stenosis o... OMIM:615706
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Genu valgum, Sensorineural he... OMIM:608154
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Craniofacial Microsomia 2
Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Micrognathi... OMIM:620444
48,Xxxy Syndrome
Hip dislocation, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Open bite, Abnormal... ORPHA:96263
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Orofaciodigital Syndrome Type 1
Hearing impairment, Open bite, Micrognathia, Tarsal synostosis, High palate, Chronic otitis media... ORPHA:2750
Atkin-Flaitz Syndrome
Abnormality of the dentition, Coarse facial features, Everted lower lip vermilion, Thick vermilio... ORPHA:1193
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Joint contracture of the hand, Retrognathia, Umbilical hernia, Periauricular skin p... ORPHA:352490
Smith-Magenis Syndrome
Conductive hearing impairment, Midface retrusion, Cleft upper lip, Large face, Frontal bossing, M... ORPHA:819
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Bilateral elbow dis... OMIM:166300
Mesomelia-Synostoses Syndrome
High, narrow palate, Synostosis of joints, Abnormality of the ankle, Synostosis of carpal bones, ... ORPHA:2496
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Anal stenosis, Hearing impairment, Umbilical hernia, Microdontia, Hypo... OMIM:601499
Taurodontism
Taurodontia OMIM:272700
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Hajdu-Cheney Syndrome
Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, Narrow mouth, Absent fr... ORPHA:955
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Delayed cranial suture closure, Gingival overgrowth, Micrognathia, Me... ORPHA:1832
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Small hand, Recurrent otitis media, Micrognathia, Narrow mouth, Short philtrum, Full... ORPHA:96184
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Thin upper lip vermilion, Small hand, Micrognathia, Narrow mouth OMIM:617755
Meier-Gorlin Syndrome 5
Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Micrognathia, Patellar... OMIM:613805
Van Maldergem Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Micrognathia, Irregular dentition, Se... OMIM:615546
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Coarse hair, Curly hair OMIM:616351
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Hypoplasia of the maxilla, Aplastic clavicle, Plagiocephaly, Hear... OMIM:620099
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Hearing abnormality, Malar flattening, Narrow mouth, Abnormal palate ... ORPHA:2412
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Meier-Gorlin Syndrome 4
Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Thick lower lip vermilion, Micrognathia... OMIM:613804
Treacher Collins Syndrome 4
Conductive hearing impairment, Micrognathia, Malar flattening, Facial asymmetry, Cleft palate OMIM:618939
Autosomal Recessive Centronuclear Myopathy
Bifid uvula, Retrognathia, Narrow mouth, Facial diplegia, Hip contracture, Protruding ear, Abnorm... ORPHA:169186
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Short distal phalanx of finger, Conducti... ORPHA:2095
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Protruding ear, Smoot... ORPHA:481152
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Abnormality of the ear, Malar flattening, Cleft palate OMIM:183700
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Ayme-Gripp Syndrome
Low-set ears, Craniofacial asymmetry, Abnormality of the dentition, Mandibular prognathia, Midfac... OMIM:601088
Noonan Syndrome 6
Multiple lentigines, Low posterior hairline, Curly hair, Long eyebrows, Sparse hair, Cafe-au-lait... OMIM:613224
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Alopecia Totalis
Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Acrodysostosis
Flat face, Hypoplasia of the maxilla, Midface retrusion, Delayed eruption of teeth, Hearing impai... ORPHA:950
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia OMIM:618254
Fetal Akinesia Deformation Sequence 4
Low-set ears, Broad neck, Retrognathia, 11 pairs of ribs, Micrognathia, Neonatal death, Short nec... OMIM:618393
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Conductive hearing impairment, Aglossia, Micrognathia, Narrow mouth, ... OMIM:202650
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Heart And Brain Malformation Syndrome
Low-set ears, Interrupted aortic arch, Ventricular septal defect, Attached earlobe, Posteriorly r... OMIM:616920
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Low-set ears, Hypoplastic left heart, Tetralogy of Fallot, Micrognathia, V... OMIM:220210
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Cardiofaciocutaneous Syndrome
Webbed neck, Optic atrophy, Hypoplasia of the zygomatic bone, Long philtrum, Frontal bossing, Low... ORPHA:1340
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Midface retrusion, Low-set, posteriorly rotated ears, Furrowed tongue, Microgn... ORPHA:1387
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Narrow face, Hearing impairment, Long philtrum, Retrognathia, Frontal bossing, Mic... OMIM:620250
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Narrow face, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, ... OMIM:309520
Mosaic Trisomy 14
Camptodactyly of finger, Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Short ... ORPHA:1703
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Micrognathia, Cleft palate OMIM:616570
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Dental crowding, Absent antihelix, Thick lower lip vermilion, Open mou... ORPHA:293939
Andersen-Tawil Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Dental crowdin... ORPHA:37553
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Aase-Smith Syndrome
Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Trismus, Abnormal pinna morphology, Cl... ORPHA:916
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Short distal phalanx of finger, Genu valgum, Hypoplasia of the zygomati... ORPHA:1295
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Plagiocephaly, Diastema, Carpal synostosis, Tarsal synostosis, Microdontia, Radiou... OMIM:605282
Myopathy, Centronuclear, 5
Bifid uvula, Retrognathia, Micrognathia, Narrow mouth, Hip contracture, High palate OMIM:615959
Hemifacial Microsomia With Radial Defects
Preauricular skin tag, Conductive hearing impairment, Atresia of the external auditory canal, Hem... OMIM:141400
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome