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
Sensorineural hearing impairment, Pseudopapilledema OMIM:146255
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Cleft palate, Progressive sensorineural hearing impairment 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
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Pili Gemini
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... 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 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Witkop Syndrome
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail OMIM:189500
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly rotated ears, Del... ORPHA:2972
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Deafness, Autosomal Dominant 11
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction OMIM:600060
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Immunodeficiency 40
Lymphopenia OMIM:616433
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Abnormal pinna morphology, Narro... OMIM:614669
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... ORPHA:2891
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Vestibular dysfunction OMIM:600974
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Supernumerary tooth, Micrognathia, ... ORPHA:3145
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Cleft Velum
Conductive hearing impairment, Velopharyngeal insufficiency, Short face, Hypoplasia of the maxill... ORPHA:99772
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... ORPHA:199306
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Otitis media with effusion... ORPHA:2791
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
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, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Arthrogryposis, Distal, Type 2E
Narrow mouth, Joint contracture of the hand, Micrognathia, Absent antihelix, Trismus OMIM:121070
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Protruding ear, Widely-spaced incisors, Optic atrophy, Hypoplasia of the maxilla, Subcortical ban... OMIM:618737
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Hypopigmentation of the skin, Onychogryposis of toenails, Dystrophic ... OMIM:617294
Candidiasis, Familial, 1
Alopecia OMIM:114580
Distal 17P13.1 Microdeletion Syndrome
High palate, Protruding ear, Retrognathia, Limited elbow movement, Hypoplasia of the zygomatic bo... ORPHA:319171
Usher Syndrome, Type Ic
Vestibular hypofunction, Congenital sensorineural hearing impairment OMIM:276904
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Parc Syndrome
Absent eyebrow, Absent eyelashes, Alopecia OMIM:600331
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Alopecia OMIM:601217
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Otodental Dysplasia
Sensorineural hearing impairment, Taurodontia, Agenesis of premolar, Long face, Long philtrum, De... 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
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
L-Ferritin Deficiency
Alopecia OMIM:615604
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Accessory oral frenu... ORPHA:79113
Nager Syndrome
Wide mouth, Cleft palate, Microtia, Hypoplasia of the radius, Micrognathia, Low-set, posteriorly ... ORPHA:245
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Stenosis of ... OMIM:616367
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Cleft palate, Everted lower lip vermilion, Micrognathia, Full cheeks, Oral synechia ORPHA:2016
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Split-Hand/Foot Malformation 3
High palate, Abnormal pinna morphology, Narrow mouth, Microretrognathia, Cleft palate, Hypoplasia... OMIM:246560
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Abnormal midface morphology, Diastema, Fusion of gums, Irregular dentition, Abno... ORPHA:401942
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Facial asymmetry, Brachyturricephaly, ... OMIM:613849
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
X-Linked Mandibulofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, High palate, Mic... ORPHA:1131
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Immunodeficiency 8
Lymphopenia OMIM:615401
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Lip pit, Micrognat... ORPHA:52429
Auriculocondylar Syndrome 1
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Cleft palate, Post... OMIM:602483
Naxos Disease
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Curly hair, Hyperhidrosis ORPHA:34217
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
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 Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Delayed ... OMIM:273050
Flat Face-Microstomia-Ear Anomaly Syndrome
Abnormal antihelix morphology, Narrow mouth, High, narrow palate, Malar flattening, Long face, Mi... ORPHA:1968
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Hypotrichosis 12
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Genu valgum... ORPHA:1452
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Facial asymmetry, Low-set, posteriorly rotated ears, Genu varum, Hypoplasia of the ... ORPHA:1110
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 119
Sensorineural hearing impairment OMIM:619615
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 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 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 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
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
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
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, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
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
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, 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 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
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 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... ORPHA:861
Sabinas Brittle Hair Syndrome
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy OMIM:211390
Cardiofaciocutaneous Syndrome 2
Fine hair, Sparse hair, Curly hair, Absent eyebrow OMIM:615278
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Narrow face, Long face, Hypoplasia of the maxilla, Macrotia, Mandibular prognathia,... ORPHA:93950
Kerion Celsi
Alopecia ORPHA:499
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Hypohidrosis, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, A... ORPHA:248
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction OMIM:607821
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Thickened helices, Narrow mouth, Tooth agenesis, Narrow palate, Malar flattening, Craniosynostosi... ORPHA:1555
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Cleft palate, Micrognathia, Periventricular nodular heterotopia, Optic a... OMIM:617201
Pierre Robin Syndrome
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate OMIM:261800
Pili Torti, Early-Onset
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:261900
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin OMIM:302000
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Cleft palate,... OMIM:311895
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Narrow mouth, Narrow face, Camptodactyly of finger, Ulnar devia... ORPHA:1529
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Curly ... OMIM:602400
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Short distal phalanx of... OMIM:609166
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia ... ORPHA:1248
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
X-Linked Intellectual Disability, Porteous Type
Narrow face, Long face, Cupped ear, Short philtrum, Hypoplasia of the maxilla, Macrotia, Mandibul... ORPHA:93945
Auriculocondylar Syndrome 3
Retrognathia, Micrognathia, Stenosis of the external auditory canal, Glossoptosis, Bilateral cond... OMIM:615706
20P12.3 Microdeletion Syndrome
Narrow mouth, Malar flattening, Microtia, Long philtrum, Hypoplasia of the maxilla, Full cheeks, ... ORPHA:261295
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Absent eyebrow, Sparse eyelashes, Spars... ORPHA:189
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Protruding ear, Hypoplasia of the zygomatic bone, Genu valgum, Cubitus valgus, Smooth philtrum, U... ORPHA:1778
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Thin vermilion border, Micrognathia, Short neck, Optic atrophy, Low-set ears OMIM:618766
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Facial diplegia, Decreased sensory nerve conduction velocity, Long face, Facial asym... OMIM:218000
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails OMIM:164680
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Hypoplasia of the maxilla, Flat face, Malar flattening OMIM:122880
Lujan-Fryns Syndrome
High palate, Protruding ear, Narrow face, Micrognathia, Camptodactyly of finger, Abnormality of t... ORPHA:776
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Trichodentoosseous Syndrome
Taurodontia, Dolichocephaly, Microdontia, Frontal bossing, Widely spaced teeth OMIM:190320
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Alopecia OMIM:616487
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Nail dystrophy, Alopecia OMIM:601705
Crouzon Syndrome
Conductive hearing impairment, Narrow palate, Narrow internal auditory canal, Optic atrophy, Fron... ORPHA:207
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Hemifacial Hyperplasia
Dental malocclusion, Facial asymmetry, Hypoplasia of the maxilla OMIM:133900
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Malar flattening, Optic atrophy, Frontal bossing, Hypoplasia of th... ORPHA:93262
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Marshall Syndrome
Sensorineural hearing impairment, High palate, Thick upper lip vermilion, Malar flattening, Cleft... ORPHA:560
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Low-set, posteriorly rotated ears, Hearing abn... ORPHA:1150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Low-set, pos... ORPHA:261120
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Aarskog-Scott Syndrome
Cleft upper lip, Genu recurvatum, Cleft palate, Everted lower lip vermilion, Abnormal vertebral s... ORPHA:915
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Sparse body hair, Abnormal eyelash morphology, Melanocyt... ORPHA:1008
Frontonasal Dysplasia 1
Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, Preauricular s... OMIM:136760
Dysostosis, Stanescu Type
Abnormal palate morphology, Tooth agenesis, Macroglossia, Abnormality of the dentition, Short nec... ORPHA:1798
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Auriculocondylar Syndrome
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... ORPHA:137888
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Chromosome 1P35 Deletion Syndrome
High palate, Narrow mouth, Long face, Micrognathia, Abnormal facial shape, Hearing impairment, Th... OMIM:617930
Antley-Bixler Syndrome
Brachycephaly, Narrow mouth, Elbow ankylosis, Cleft palate, Craniosynostosis, Delayed cranial sut... ORPHA:83
Acrofacial Dysostosis, Catania Type
Tooth agenesis, Microretrognathia, Small hand, Abnormality of the dentition, Preauricular pit, Lo... ORPHA:1786
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Narrow mouth, Micro... ORPHA:1307
Severe Oculo-Renal-Cerebellar Syndrome
Large earlobe, Wide mouth, Malar prominence, Narrow face, Hypoplasia of the zygomatic bone, Optic... ORPHA:2715
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Micrognathia, Hyperplasia of the maxilla, Coarse facial features, Wide... OMIM:617616
Toluene Embryopathy
Protruding ear, Thin vermilion border, Micrognathia, Hypoplasia of the zygomatic bone, Low-set ea... ORPHA:1920
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Craniosynostosis And Dental Anomalies
High palate, Delayed eruption of teeth, Sagittal craniosynostosis, Hypoplasia of the maxilla, Sca... OMIM:614188
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate OMIM:615731
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Protruding ear, Narrow mouth, Micrognathia, Camptodactyly of finger, Preauricular skin tag, Optic... ORPHA:1495
Atrichia With Papular Lesions
Sparse hair OMIM:209500
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Arthrogryposis, Distal, Type 1C
High palate, Narrow mouth, Limited neck range of motion, Pursed lips, Cleft palate, Retrognathia,... OMIM:619110
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Isolated Pierre Robin Syndrome
Glossoptosis, Micrognathia, Cleft palate ORPHA:718
Myopathy, Centronuclear, 5
High palate, Narrow mouth, Retrognathia, Micrognathia, Facial palsy OMIM:615959
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Thin vermilion border, Short philtrum, Short middle phalanx of the 2nd f... OMIM:156510
Pfeiffer Syndrome
High palate, Facial asymmetry, Short neck, Synostosis of carpal bones, Short philtrum, Hypoplasia... ORPHA:710
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Protruding ear, Hypodontia, Micrognathia, Abnormality of the dentitio... ORPHA:3253
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Malar flattening, Micrognathia, Short neck, Long philtrum, Whistling a... OMIM:277720
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Micrognathia, Facial asymmet... ORPHA:398156
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Hypoplasia of the maxilla, Midface ... ORPHA:2776
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Intestinal m... OMIM:614701
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Narrow mouth, Brachycephaly, High palate ORPHA:2528
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short toe, Short metacarpal, Cleft palate, Coronal craniosynostosis, Micrognathia, ... OMIM:614078
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Protruding ear, Camptodactyly of finger, Hypoplasia of the maxilla, Short palm ORPHA:85279
Carvajal Syndrome
Woolly hair ORPHA:65282
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Abnormal periauricular region morph... ORPHA:3232
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Thin vermilion border, Micrognathia, Thin calvarium, Delayed cr... OMIM:601812
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Periodontal Ehlers-Danlos Syndrome
Gingival overgrowth, Periodontitis, Micrognathia, Agenesis of permanent teeth, Premature loss of ... ORPHA:75392
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Frontal bossing, Long philtrum, Hypoplasia of the zygomatic bone ORPHA:3074
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Oculodentodigital Dysplasia, Autosomal Recessive
Large earlobe, Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central inci... OMIM:257850
Cohen Syndrome
Sensorineural hearing impairment, Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the ... ORPHA:193
Stickler Syndrome Type 1
Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Long philtrum, Hypoplasia of the ... ORPHA:90653
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse eyebrow, Alopecia, Hypohidrosis, Dystrophic toenail, Fine hair, Dystrop... ORPHA:1882
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Fine hair, Ridged nail, Slow-growing... OMIM:129490
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Non-midline cl... ORPHA:1406
Immunodeficiency 76
Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Hypoglossia-Hypodactyly Syndrome
High palate, Anal atresia, Narrow mouth, Short distal phalanx of finger, Aplasia/Hypoplasia of th... ORPHA:989
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Catel-Manzke Syndrome
Malar flattening, Cleft palate, Glossoptosis, Micrognathia, Camptodactyly of finger, Chronic otit... ORPHA:1388
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:616099
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla OMIM:618302
Myopathy, Congenital, With Tremor
High palate, Micrognathia, Narrow mouth OMIM:618524
Meier-Gorlin Syndrome 8
Narrow mouth, Microtia, Micrognathia, Thick vermilion border, Low-set ears OMIM:617564
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Hand oligodactyly, Cleft palate OMIM:172880
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Atelosteogenesis, Type Iii
Knee dislocation, Malar flattening, Cleft palate, Micrognathia, Short neck, Prominent occiput, Fr... OMIM:108721
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Bor Syndrome
Abnormality of the middle ear ossicles, Cleft palate, Retrognathia, Stenosis of the external audi... ORPHA:107
48,Xxyy Syndrome
Taurodontia, Cleft palate, Open bite, Long face, Facial asymmetry, Delayed eruption of teeth, Chr... ORPHA:10
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Narrow face, Hypoplasia of the radius, Micrognathi... ORPHA:958
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Alopecia, M... ORPHA:79397
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Mandibulofacial Dysostosis With Mental Retardation
High palate, Wide mouth, Abnormal pinna morphology, Malar flattening, Micrognathia, Abnormality o... OMIM:248400
Hypomandibular Faciocranial Dysostosis
Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Optic disc coloboma, Aglos... OMIM:241310
Hypotrichosis 13
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes OMIM:615896
Quinquaud Folliculitis Decalvans
Scarring alopecia of scalp, Abnormal hair morphology, Patchy alopecia ORPHA:346
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short neck, Low-set, posteriorly rotated ears, Thin upper lip vermilion ORPHA:2015
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Calvarial skull defect, Malar flattening, Micrognathia, Neonatal death, Posteriorly... OMIM:224410
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Porphyria Cutanea Tarda
Onycholysis, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Alopecia OMIM:176100
Intellectual Disability, Birk-Barel Type
Protruding ear, High, narrow palate, Dolichocephaly, Micrognathia, Short philtrum, Congenital fin... ORPHA:166108
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Abnormal facial shape, Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Brachycephaly, Narrow mouth, Short distal phalanx of finger, Sh... ORPHA:1327
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Trichodental Dysplasia
Fine hair, Sparse hair, Brittle hair, Slow-growing hair OMIM:601453
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Cleft palate, Malar flattening, Micrognathia, Cupped ear ORPHA:93946
Smith-Magenis Syndrome
Broad face, Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Abnormal... OMIM:182290
Trisomy 18-Like Syndrome
Micrognathia, Abnormal pinna morphology, Low-set ears, Preauricular skin tag OMIM:601161
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
17Q21.31 Microduplication Syndrome
High palate, Malar flattening, Micrognathia, Abnormality of the dentition, Short philtrum, Abnorm... ORPHA:217340
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Narrow face, Long face, Hypoplasia of the maxilla, Mandibular prognathia OMIM:300676
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Craniosynostosis, Abnormality of the de... ORPHA:178303
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... OMIM:614929
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Hypotrichosis 6
Pili torti, Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes OMIM:607903
Apert Syndrome
Cleft palate, Brachyturricephaly, Micromelia, Delayed eruption of teeth, Optic atrophy, Hypoplasi... ORPHA:87
Mohr Syndrome
High palate, Conductive hearing impairment, Accessory oral frenulum, Agenesis of central incisor,... OMIM:252100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Death in childhood, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Myasthenic Syndrome, Congenital, 19
High palate, Retrognathia, Micrognathia, Facial palsy, Low-set ears OMIM:616720
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Sparse hair, Reduced terminal:vellus ratio OMIM:601553
Hemifacial Atrophy, Progressive
Dental malocclusion, Microtia, Short mandibular rami, Delayed eruption of teeth, Horner syndrome,... OMIM:141300
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Sparse hair, Supernumerary nipple, Sparse or absent eyelashe... ORPHA:1433
Crisponi/Cold-Induced Sweating Syndrome 1
High palate, Large face, Low-set ears, Narrow mouth, Retrognathia, Micrognathia, Facial palsy, Sh... OMIM:272430
Keipert Syndrome
Sensorineural hearing impairment, Short distal phalanx of finger, Short hallux, Hypoplasia of the... ORPHA:2662
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Hyp... ORPHA:2251
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Anonychia, Axillary and groin hyperpigmentation and hypopigmentation, Abno... ORPHA:69125
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Abnormal pinna morphology, Microretrognathia, Biparietal narrowing, Long philtrum, Hypoplasia of ... ORPHA:228396
2Q32Q33 Microdeletion Syndrome
High palate, Narrow mouth, Cleft palate, Thin vermilion border, Long face, Micrognathia, Facial a... ORPHA:251019
Nablus Mask-Like Facial Syndrome
High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Abnorma... OMIM:608156
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cleft palate, Retrognathia, Microdontia, Hypoplasia of the zygomatic bone, Frontal bossing, Low-s... ORPHA:1812
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Hypoplasia of the maxilla, Tented upper lip vermilion, Ante... OMIM:601390
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Tiger tail banding OMIM:618546
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Lambert Syndrome
Preauricular skin tag, Wide mouth, Malar flattening, Branchial anomaly ORPHA:1296
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Craniosynostosis, Maxillozygomatic ... ORPHA:1790
Distal Monosomy 1Q
Thin vermilion border, Micrognathia, Round face, Low-set ears, Smooth philtrum ORPHA:36367
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Low-set ears, Cleft palate, Optic atrophy, Hypoplasia of the maxi... OMIM:614261
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Hypodontia, Craniosynostosis, Dolichocephaly, Abnorm... ORPHA:1515
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Elbow flexion contracture, Knee flexion contracture OMIM:259610
Crouzon Syndrome
Conductive hearing impairment, Coronal craniosynostosis, Atresia of the external auditory canal, ... OMIM:123500
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fragile nails, Ridged fingernail, Abnormal fingernail morphology, Hypoplast... ORPHA:2228
Prolidase Deficiency
Abnormality of the middle ear, Micrognathia, Hypoplasia of the zygomatic bone, Carious teeth, Gen... ORPHA:742
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Prominent frontal sinuses, Mi... OMIM:170390
Jackson-Weiss Syndrome
Short metatarsal, Frontal bossing, Hypoplasia of the maxilla, Abnormal palate morphology, Mandibu... ORPHA:1540
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Low-set ears, Cleft palate OMIM:616570
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide mouth, Narrow mouth, Micrognathia, Short philtrum, Deep philtrum, Umbilical hernia, Thick ve... OMIM:615834
Lowry-Maclean Syndrome
Widely patent coronal suture, Trigonocephaly, High, narrow palate, Cleft palate, Craniosynostosis... ORPHA:2409
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Leopard Syndrome 2
Cafe-au-lait spot, Curly hair, Multiple lentigines OMIM:611554
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, S... OMIM:201000
Hypoglossia With Situs Inversus
High palate, Narrow mouth, Hypodontia, Micrognathia, Microglossia, Low-set ears OMIM:612776
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Long face, Short philtrum, Diastema, Limb undergrowth, Genu valgum, Hypo... OMIM:619142
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Fine hair, Brittle scalp hair OMIM:600771
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Pigmentary retinopathy, Long eyelashes, Long eyebrows, Central heterochromia OMIM:275400
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... ORPHA:129
Pde4D Haploinsufficiency Syndrome
Broad face, Short philtrum, Upper limb undergrowth, Hypoplasia of the maxilla, Mandibular prognat... ORPHA:439822
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Microdonti... OMIM:129400
Erythrokeratodermia Variabilis Et Progressiva 7
Anhidrosis, Woolly hair, Dystrophic toenail OMIM:619209
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Sparse eyebrow, Brittle hair, Alopecia, Hyperpigmentati... OMIM:104100
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Short neck, Long philtrum, Delayed ... OMIM:157980
Frontoocular Syndrome
High palate, Narrow mouth, Trigonocephaly, Narrow philtrum, Coronal craniosynostosis, Micrognathi... OMIM:605321
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Sparse scalp hair, Hypoplastic toenails, Patchy alopecia, Sparse eyelashes, Absent fa... OMIM:613573
Acrodysostosis
Short toe, Short metatarsal, Open bite, Hypoplasia of the radius, Micromelia, Delayed eruption of... ORPHA:950
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Narrow mouth, Thin vermilion border, Micrognathia, Optic atrophy, Mac... OMIM:600118
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Tooth malposition, Micrognathia, Short 5th finger, Hearing impairment, Low-set ears, Thin upper l... OMIM:618608
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Robin Sequence-Oligodactyly Syndrome
Cleft palate, Narrow face, Glossoptosis, Micrognathia, Abnormality of the dentition, Hand oligoda... ORPHA:3104
Arthrogryposis, Distal, Type 2B1
High palate, Abnormality of the ear, Narrow mouth, Micrognathia, Camptodactyly of finger, Long ph... OMIM:601680
Trisomy 18P
Abnormal pinna morphology, Narrow mouth, High, narrow palate, Thin vermilion border, Micrognathia... ORPHA:1715
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Crowded maxillary incisors, Hypoplasia of the maxilla ORPHA:397973
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, Death in childhood, B lymphocytopenia, Absence of lymph node ger... OMIM:619924
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... OMIM:129500
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Sensorineural hearing impairment, Plagiocephaly, Conductive hearin... ORPHA:794
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Dental malocclusion, Conductive hearing impairment, High palate... OMIM:615546
Tricho-Dento-Osseous Syndrome
Taurodontia, Periapical tooth abscess, Dolichocephaly, Microdontia, Enamel hypomineralization, Fr... ORPHA:3352
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal de... OMIM:227270
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Cardiofaciocutaneous Syndrome 4
Sparse hair, Absent eyebrow, Sparse eyelashes, Multiple lentigines, Cafe-au-lait spot, Curly hair... OMIM:615280
Burn-Mckeown Syndrome
Cleft upper lip, Conductive hearing impairment, Protruding ear, Narrow mouth, Cleft palate, Thin ... OMIM:608572
Chromosome 22Q11.2 Duplication Syndrome
High palate, Abnormal pinna morphology, Velopharyngeal insufficiency, Micrognathia, Low-set ears OMIM:608363
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Dilatated internal auditor... OMIM:602588
Renpenning Syndrome
Sensorineural hearing impairment, Anal atresia, Narrow mouth, High, narrow palate, Malar flatteni... ORPHA:3242
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Conductive hearing impairment, Dislocated radial head, Narrow mouth, Malar flattenin... OMIM:602471
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Cleft palate, Malar flattening, Glossoptosis, Micrognathia, Ost... ORPHA:166100
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Low-set, posteriorly rotated ea... OMIM:615502
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, Curly hair, Synophrys OMIM:616351
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Cleft palate, Micrognathia, Microglossia, Aplasia/Hypoplasia o... ORPHA:141152
Cardiofaciocutaneous Syndrome 3
Curly hair, Hyperhidrosis OMIM:615279
Cortisone Reductase Deficiency 1
Hirsutism, Alopecia OMIM:604931
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Axenfeld-Rieger Syndrome
Hypodontia, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Anal stenosis, H... ORPHA:782
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Brittle hair, Freckling, Fine hair, Melanocytic nevus ORPHA:1573
Edinburgh Malformation Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Downturned corners of mouth, Frontal bossing, ... ORPHA:1895
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Plagiocephaly, Abnormal pinna morphology, Narrow mouth, Micrognathia, Long philtrum,... OMIM:613457
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... OMIM:216550
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Mesomelia-Synostoses Syndrome
Narrow mouth, High, narrow palate, Malar flattening, Micrognathia, Aplasia/Hypoplasia of the uvul... ORPHA:2496
Coffin-Lowry Syndrome
High palate, Wide mouth, Delayed eruption of teeth, Advanced eruption of teeth, Optic atrophy, Hy... ORPHA:192
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Malar flattening, Hypoplasia of the maxilla, Abnormal auditory ... OMIM:109120
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Short toe, Hypodontia, Recurrent mandibular subluxa... OMIM:225410
Hajdu-Cheney Syndrome
Cleft palate, Abnormality of the dentition, Short neck, Umbilical hernia, Abnormal facial shape, ... ORPHA:955
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Joint contracture of the hand, Retrognathia, Micrognathia, Short philtrum, Joint co... ORPHA:352490
Frontorhiny
Congenital conductive hearing impairment, Basal encephalocele, Cleft palate, Camptodactyly of fin... ORPHA:391474
Coffin-Siris Syndrome 10
Wide mouth, Low-set ears, Posteriorly rotated ears, Persistence of primary teeth OMIM:618506
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sensorineural hearing impairment, Short femoral neck, Genu valgum, Hypoplasia of the maxilla, Cub... OMIM:608154
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Micrognathi... OMIM:239800
Treacher Collins Syndrome 4
Conductive hearing impairment, Cleft palate, Malar flattening, Micrognathia, Facial asymmetry OMIM:618939
Meier-Gorlin Syndrome 5
Microtia, Micrognathia, Prominent metopic ridge, Long philtrum, Small earlobe, Hypoplasia of the ... OMIM:613805
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash... ORPHA:113
Fetal Akinesia Deformation Sequence 4
High palate, Retrognathia, Micrognathia, Short neck, Broad neck, Low-set ears, Posteriorly rotate... OMIM:618393
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Bilateral elbow dislocations, Wrist swelling, Hypoplasia of the maxilla, Ankle swel... OMIM:166300
Meier-Gorlin Syndrome 4
Narrow mouth, Genu recurvatum, Microtia, Micrognathia, Hypoplasia of the maxilla, Patellar aplasi... OMIM:613804
Taurodontism
Taurodontia OMIM:272700
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Toenail dysplasia, Alopecia, Fingernail dysplasia, Abnor... ORPHA:2325
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Onychotrichodysplasia And Neutropenia
Short eyelashes, Trichorrhexis nodosa, Curly eyelashes, Sparse pubic hair, Concave nail, Curly ha... OMIM:258360
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia OMIM:618373
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Coronal craniosynostosis, Abnormal... ORPHA:2095
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Short ne... ORPHA:2563
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Retrognathia, Micrognathia, Delayed cranial suture closure, Short neck, Ging... ORPHA:1832
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Abnormality of the ear, Cleft palate, Malar flattening OMIM:183700
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Axenfeld-Rieger Syndrome, Type 2
Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Hypoplasia of the maxilla, ... OMIM:601499
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Malar flattening, Prominence of the premaxilla, Congenital hip dislocation, Hearing... ORPHA:2412
Subaortic Stenosis--Short Stature Syndrome
Short palm, Narrow mouth, Short toe, Malar flattening, Small hand, Short neck, Diastema, Hypoplas... OMIM:271960
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Small hand, Micrognathia, Narrow mouth, Thin upper lip vermilion OMIM:617755
Orofaciodigital Syndrome Type 1
High palate, Cleft palate, Abnormality of the dentition, Lobulated tongue, Tongue nodules, Microg... ORPHA:2750
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Ayme-Gripp Syndrome
Sensorineural hearing impairment, Narrow mouth, Malar flattening, Microtia, Craniofacial asymmetr... OMIM:601088
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Conductive hearing impairment, Atresia of the external auditor... ORPHA:3236
Treacher Collins Syndrome 3
Conductive hearing impairment, Malar flattening, Microtia, Cleft palate, Micrognathia, Abnormalit... OMIM:248390
Noonan Syndrome 6
Sparse hair, Multiple lentigines, Long eyebrows, Cafe-au-lait spot, Curly hair, Low posterior hai... OMIM:613224
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Acrofacial Dysostosis, Cincinnati Type
Cleft palate, Microtia, Retrognathia, Micrognathia, Anotia, Hypoplasia of the maxilla, Aplastic z... OMIM:616462
Cardiofaciocutaneous Syndrome
High palate, Long face, Short neck, Long philtrum, Coarse facial features, Low-set, posteriorly r... ORPHA:1340
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Conductive hearing impairment, Hypodontia, Cleft palate, Oval face, Atresia of t... OMIM:106260
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal antihelix morphology, High palate, Tooth malposition, Malar flattening, Everted lower li... ORPHA:1387
Autosomal Recessive Centronuclear Myopathy
High palate, Facial diplegia, Protruding ear, Narrow mouth, Retrognathia, Long face, Bifid uvula,... ORPHA:169186
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Abnormally folded helix, Narrow face, Long face, Micrognathia, Short philtrum, Front... OMIM:309520
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Genu valgum, Thin upper lip vermilion, Hypoplasia of the zygomati... ORPHA:1295
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Small hand, Micrognathia, Short philtrum, Bifid uvula, P... ORPHA:96184
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Plagiocephaly, Cleft palate, Diastema, Microdontia, Radioulnar synostosis, Opt... OMIM:605282
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
48,Xxxy Syndrome
Taurodontia, Cleft palate, Open bite, Facial asymmetry, Short neck, Delayed eruption of teeth, Ch... ORPHA:96263
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Reticular hyperpigmentation, Brittle hair, Brittle scalp hair, Abnormality of ... OMIM:262020
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Glass Syndrome
High palate, Narrow mouth, Malar flattening, Cleft palate, Long face, Micrognathia, Oligodontia, ... OMIM:612313
Smith-Magenis Syndrome
Cleft upper lip, Large face, Conductive hearing impairment, Taurodontia, Cleft palate, Micrognath... ORPHA:819
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Aase-Smith Syndrome
Abnormal pinna morphology, Cleft palate, Camptodactyly of finger, Aplasia/Hypoplasia of the radiu... ORPHA:916
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
High palate, Uplifted earlobe, Protruding ear, Wide mouth, Retrognathia, Optic atrophy, Prominent... OMIM:615722
Rubinstein-Taybi Syndrome 2
High palate, Posterior helix pit, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia,... OMIM:613684
Lateral Meningocele Syndrome
High palate, Short neck, Umbilical hernia, High, narrow palate, Dolichocephaly, Micrognathia, Atr... ORPHA:2789
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Andersen-Tawil Syndrome
High palate, Dental crowding, Persistence of primary teeth, Small hand, Micrognathia, Facial asym... ORPHA:37553