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Gene: Gtf2i MGI:1202722

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
general transcription factor II I
Synonyms:
TFII-I,  BAP-135,  6030441I21Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gtf2i 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 Gtf2i by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Williams Syndrome
Cholelithiasis, Type II diabetes mellitus, Precocious puberty, Hypoplasia of penis, Functional ab... ORPHA:904

The table below shows human diseases predicted to be associated to Gtf2i by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, ... ORPHA:412066
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Fryns Microphthalmia Syndrome
Facial cleft, Neural tube defect OMIM:600776
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Facial cleft, Anterior encephalocele, Holoprosencephaly OMIM:601357
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking OMIM:619191
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia OMIM:615483
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Anteverted nares, Testicular atrophy OMIM:601163
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Frontal bossing, Plagiocephaly, Brachycephaly OMIM:300064
Geniospasm 1
Anxiety OMIM:190100
Triopia
Encephalocele, Midline facial cleft ORPHA:3374
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Aggressive behavior, Unsteady gait, Dementia OMIM:603218
Huntington Disease-Like 2
Apathy, Bradykinesia, Depression, Anxiety, Irritability, Dementia OMIM:606438
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Wide nasal bridge OMIM:209970
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Cleft ala nasi, Convex nasal ridge, Underdeveloped nasal alae, Wide nasal bridge ORPHA:2007
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Hypospadias, Short nose, Depressed nasal ridge ORPHA:1355
Chromosome 18P Deletion Syndrome
Micropenis, Gonadal dysgenesis, Decreased testicular size, Anteverted nares, Cryptorchidism, Wide... OMIM:146390
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Anxiety, Bradykinesia, Dementia OMIM:605909
3Q13 Microdeletion Syndrome
Anteverted nares, Cryptorchidism, Hypoplasia of penis, Wide nasal bridge ORPHA:1621
Deafness, X-Linked 7
Wide nasal bridge OMIM:301018
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Wide nasal bridge ORPHA:2229
17Q21.31 Microduplication Syndrome
Anteverted nares, Short nose, Delayed puberty ORPHA:217340
Fg Syndrome 4
Wide nasal bridge OMIM:300422
Anophthalmia Plus Syndrome
Spina bifida, Facial cleft ORPHA:1104
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
Broad nasal tip, Wide nasal bridge OMIM:600093
Steel Syndrome
Wide nasal bridge OMIM:615155
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Broad nasal tip, Thick nasal alae, Wide nasal bridge OMIM:618147
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Bradykinesia OMIM:618878
Trisomy 18-Like Syndrome
Wide nasal bridge OMIM:601161
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Combined Oxidative Phosphorylation Deficiency 25
Decreased response to growth hormone stimulation test, Depressed nasal bridge, Short nose, Anteve... OMIM:616430
Rhiny
Anteverted nares, Short nose OMIM:180360
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Deafness-Craniofacial Syndrome
Underdeveloped nasal alae, Wide nasal bridge OMIM:125230
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft, Ethmoidal encephalocele OMIM:607597
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Hypogonadism, Short nasal septum, Anosmia OMIM:302950
Burn-Mckeown Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia ORPHA:1200
Non-Distal Trisomy 10Q
Depressed nasal bridge, Cryptorchidism, Short nose, Convex nasal ridge ORPHA:1695
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Depressed nasal bridge, Wide nasal bridge OMIM:609528
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Wide nose, Short nose, Central diabetes insipidus OMIM:125700
Mosaic Trisomy 9
Atrial septal defect, Short neck, Endocardial fibroelastosis, Ventricular septal defect, Dextroca... ORPHA:99776
Ectodermal Dysplasia 13, Hair/Tooth Type
Depressed nasal bridge, Wide nasal bridge OMIM:617392
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Depressed nasal bridge, Short nose OMIM:614069
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Anteverted nares, Wide nasal bridge OMIM:619311
Frontofacionasal Dysplasia
Encephalocele, Facial cleft, Short stature ORPHA:1791
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Wide nasal bridge ORPHA:3207
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Acrofacial Dysostosis, Catania Type
Short stature, Spina bifida occulta, Facial cleft, Webbed neck, Intrauterine growth retardation ORPHA:1786
Lamb-Shaffer Syndrome
Depressed nasal bridge, Bulbous nose, Wide nasal bridge OMIM:616803
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Wide nasal bridge, Hypogonadism... ORPHA:791
Cofs Syndrome
Abnormal nasal morphology, Wide nasal bridge, Hypogonadism ORPHA:1466
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Anteverted nares, Cryptorchidism, Prominent nasal bridge, Wide ... ORPHA:1703
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Encephalocele OMIM:200130
Aminoacylase 1 Deficiency
Wide nasal bridge OMIM:609924
Acrofacial Dysostosis, Weyers Type
Facial cleft, Mild short stature, Advanced eruption of teeth ORPHA:952
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus OMIM:222300
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft, Abnormal heart morphology OMIM:239800
Intellectual Disability, Wolff Type
Hypospadias, Cryptorchidism, Bulbous nose, Wide nasal bridge ORPHA:3080
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short nose, Short columella OMIM:155050
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Mental Retardation, X-Linked 91
Short nose OMIM:300577
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Wide nasal bridge, Micropenis OMIM:601224
Microphthalmia, Syndromic 12
Broad nasal tip, Cryptorchidism, Bicornuate uterus, Wide nasal bridge OMIM:615524
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
Wide nasal bridge OMIM:619844
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Craniosynostosis OMIM:614416
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Midface retrusion, Craniosynostosis OMIM:612247
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Depressed nasal bridge, Choanal stenosis, Concave... OMIM:122860
Supernumerary Nostril
Facial cleft ORPHA:141096
Craniodiaphyseal Dysplasia
Depressed nasal bridge, Wide nasal bridge ORPHA:1513
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism, Short nose, Depressed nasal bridge OMIM:616910
Alazami Syndrome
Depressed nasal bridge, Wide nose, Wide nasal bridge OMIM:615071
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Delayed puberty ORPHA:1825
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Cryptorchidism, Wide nasal bridge, Micropenis OMIM:612626
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Wide nasal bridge OMIM:617930
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Neonatal death, Wide nasal bridge OMIM:224410
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hypoplasia of penis, Short nose, Anteverted nares... ORPHA:2849
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Broad nasal tip, Wide nasal bridge ORPHA:73273
17P13.3 Microduplication Syndrome
Wide nose, Short nose, Hypoplasia of penis ORPHA:217385
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge OMIM:618379
Constricting Bands, Congenital
Encephalocele, Facial cleft, Ectopia cordis OMIM:217100
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Depressed nasal b... OMIM:614732
Megalencephaly
Macroorchidism, Wide nasal bridge, Long penis ORPHA:2477
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Hypospadias, Depressed nasal bridge, Short nose, Umbilical hernia, Anteverted nares, ... ORPHA:171839
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Anteverted nares, Hypoplastic female external genitalia, Cryptorchidism, Wide nasal b... OMIM:618577
Oculomaxillofacial Dysostosis
Facial cleft, Short stature ORPHA:1794
Ohdo Syndrome, X-Linked
Bulbous nose, Small scrotum, Depressed nasal bridge, Prominent nose, Cryptorchidism, Wide nasal b... OMIM:300895
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Bifid nasal tip, Wide nose, Choanal atresia, Abnormal nasal bone morpholog... ORPHA:521308
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose ORPHA:438178
Disorder Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Spina bifida occulta, Short nose, Hypogonadism, Small scrotum ORPHA:2983
Orofaciodigital Syndrome Xi
Bulbous nose, Wide nasal bridge OMIM:612913
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1832
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Bifid scrotum, Depressed nasal bridge, Ambiguous genitalia, Short nose, Cryp... ORPHA:93328
Pontocerebellar Hypoplasia Type 10
Underdeveloped nasal alae, Wide nasal bridge ORPHA:411493
Oculocerebrocutaneous Syndrome
Hydrocephalus, Facial cleft ORPHA:1647
Ring Chromosome 6 Syndrome
Wide nasal bridge ORPHA:1448
Intellectual Developmental Disorder, X-Linked 104
Bifid nasal tip, Wide nasal bridge OMIM:300983
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Bulbous nose, Hypospadias, Abnormality of the Leydig cells, Anteverted nares,... ORPHA:3063
Intellectual Developmental Disorder, Autosomal Recessive 74
Prominent nose, Wide nasal bridge OMIM:617169
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Umbilical hernia, Anteverted nares, Cryptorchidism, Wide nasal bridge ORPHA:352490
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Depressed nasal bridge, Short nose OMIM:613443
Acromelic Frontonasal Dysostosis
Encephalocele, Broad nasal tip, Bifid nose, Hypopituitarism, Bifid nasal tip, Cryptorchidism, Mid... OMIM:603671
Phosphoribosylaminoimidazole Carboxylase Deficiency
Depressed nasal bridge, Coronal hypospadias, Neonatal death, Bilateral choanal atresia, Short nos... OMIM:619859
Velo-Facial-Skeletal Syndrome
Wide nasal bridge ORPHA:3424
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose OMIM:613670
Pallister-Hall-Like Syndrome
Micropenis, Depressed nasal bridge, Anterior hypopituitarism, Short nose, Occipital encephalocele OMIM:241800
Kahrizi Syndrome
Bulbous nose, Wide nasal bridge OMIM:612713
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Short nose, Underdeveloped nasal alae, Wide nasal bridge OMIM:615803
Chung-Jansen Syndrome
Anteverted nares, Cryptorchidism, Short nose OMIM:617991
Distal Trisomy 18Q
Hypoplasia of penis, Short nose, Abnormality of female external genitalia, Choanal atresia, Antev... ORPHA:1716
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Branchial anomaly, Webbed neck ORPHA:1131
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Depressed nasal tip, Anterior hypopituitarism, Cryptorchidism, Wide nasal b... ORPHA:2863
Ring Chromosome 1 Syndrome
Anteverted nares, Wide nasal bridge ORPHA:1437
Pierpont Syndrome
Micropenis, Broad nasal tip, Short nose, Wide nose, Cryptorchidism OMIM:602342
Lissencephaly 4
Wide nasal bridge OMIM:614019
Filippi Syndrome
Low hanging columella, Ambiguous genitalia, Cryptorchidism, Underdeveloped nasal alae, Wide nasal... OMIM:272440
Intellectual Disability-Cataracts-Kyphosis Syndrome
Bulbous nose, Wide nasal bridge ORPHA:171860
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Short nose ORPHA:261120
Peroxisomal Acyl-Coa Oxidase Deficiency
Depressed nasal bridge, Wide nasal bridge OMIM:264470
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Depressed nasal bridge, Shawl scrotum, Cryptorchidism, Wide nasal bridge ORPHA:2256
Acrodysostosis
Depressed nasal ridge, Depressed nasal bridge, Irregular menstruation, Short nose, Abnormality of... ORPHA:950
Warburg Micro Syndrome 1
Anteverted nares, Cryptorchidism, External genital hypoplasia, Wide nasal bridge OMIM:600118
Simpson-Golabi-Behmel Syndrome, Type 2
Micropenis, Recurrent upper respiratory tract infections, Wide nose, Short nose, Anteverted nares OMIM:300209
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormality of the nares, Shor... ORPHA:1295
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Depressed nasal bridge, Congenital hypothyroidism, Short nose, Diabetes mellitus, An... OMIM:614613
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Depressed nasal bridge, Umbilical hernia, Anteverted nares, Wide nasal bridge OMIM:615834
Tonne-Kalscheuer Syndrome
Micropenis, Hypospadias, Prominent nose, Decreased testicular size, Cryptorchidism, Prominent nas... OMIM:300978
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Delayed puberty ORPHA:2598
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Underdeveloped nasal alae, Wide nasal bridge, Umbilical hernia ORPHA:1516
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Short nose, Umbilical hernia OMIM:613544
Velofacioskeletal Syndrome
Prominent nasal bridge, Wide nasal bridge OMIM:600736
Spondylometaphyseal Dysplasia, X-Linked
Anteverted nares, Depressed nasal bridge, Wide nasal bridge OMIM:313420
Short Rib-Polydactyly Syndrome
Disproportionate short-limb short stature, Situs inversus totalis, Cystic hygroma, Transposition ... ORPHA:1505
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Wide nasal bridge ORPHA:166024
Craniodigital-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Mulibrey Nanism
Wide nasal bridge ORPHA:2576
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Intellectual Developmental Disorder, X-Linked 21
Short nose, Macroorchidism OMIM:300143
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Short nose, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge ORPHA:1529
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism, Wide nasal bridge OMIM:619595
Intellectual Developmental Disorder, Autosomal Dominant 23
Bulbous nose, Hypospadias, Depressed nasal bridge, Anteverted nares, Wide nasal bridge OMIM:615761
Peho-Like Syndrome
Short nose OMIM:617507
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Craniosynostosis 2
Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis, Unicoronal synostosi... OMIM:604757
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Freeman-Sheldon Syndrome
Cryptorchidism, Wide nasal bridge, Underdeveloped nasal alae, Depressed nasal ridge ORPHA:2053
Monosomy 5P
Wide nasal bridge ORPHA:281
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Short nose, Slender nose OMIM:615419
Brunet-Wagner Neurodevelopmental Syndrome
Wide nasal bridge OMIM:619690
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Anteverted nares, Depressed nasal bridge, Bulbous nose, Wide nasal bridge OMIM:600991
Lissencephaly, X-Linked, 2
Micropenis, Ambiguous genitalia, Decreased testicular size, Prominent nasal bridge, Wide nasal br... OMIM:300215
Cardiocranial Syndrome, Pfeiffer Type
Micropenis, Hypospadias, Umbilical hernia, Cryptorchidism, Wide nasal bridge ORPHA:2872
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, Wide nasal bridge OMIM:618388
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Abnormality of the nares, Short nose, Short columella ORPHA:1248
Acrocephalopolydactyly
Short nose, Depressed nasal ridge ORPHA:221054
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Prominent nose, Wide nasal bridge ORPHA:137831
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:401935
Intellectual Developmental Disorder, Autosomal Recessive 45
Anteverted nares, Bulbous nose, Wide nasal bridge OMIM:615979
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose ORPHA:2370
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge ORPHA:3366
Chromosome 3Pter-P25 Deletion Syndrome
Bulbous nose, Low hanging columella, Broad nasal tip, Depressed nasal bridge, Anteverted nares, C... OMIM:613792
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Glutamine Deficiency, Congenital
Depressed nasal bridge, Neonatal death, Short nose, Anteverted nares, Wide nasal bridge OMIM:610015
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Flared nostrils, Wide nasal bridge OMIM:312170
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Depressed nasal bridge, Short nose OMIM:614744
Ohdo Syndrome
Depressed nasal bridge, Wide nasal bridge, Short nose, Anteverted nares, Cryptorchidism, Small sc... OMIM:249620
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Distal Monosomy 10P
Convex nasal ridge, Hypoplasia of penis, Polycystic ovaries, Cryptorchidism, Wide nasal bridge ORPHA:1580
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Wide nasal bridge OMIM:248910
Frontonasal Dysplasia 1
Broad nasal tip, Bifid nose, Bifid nasal tip, Cranium bifidum occultum, Short columella, Anterior... OMIM:136760
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Wide nasal bridge OMIM:618067
Baker-Gordon Syndrome
Short nose, Prominent nasal tip OMIM:618218
Spastic Paraplegia 47, Autosomal Recessive
Bulbous nose, Wide nasal bridge OMIM:614066
Acromicric Dysplasia
Anteverted nares, Bulbous nose, Short nose ORPHA:969
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Wide nasal bridge, Micropenis OMIM:614684
Peroxisome Biogenesis Disorder 6A (Zellweger)
Wide nasal bridge OMIM:614870
Gand Syndrome
Broad nasal tip, Wide nasal bridge OMIM:615074
Meckel Syndrome, Type 8
Short nose, Depressed nasal ridge, Encephalocele OMIM:613885
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Boomerang Dysplasia
Neonatal death, Hypoplastic nasal septum, Underdeveloped nasal alae, Wide nasal bridge OMIM:112310
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge OMIM:614078
Joubert Syndrome 37
Micropenis, Wide nose, Decreased testicular size, Anteverted nares, Cryptorchidism, Wide nasal br... OMIM:619185
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Bulbous nose, Precocious puberty, Wide nasal bridge OMIM:300958
Donnai-Barrow Syndrome
Bicornuate uterus, Depressed nasal bridge, Short nose, Abnormality of the uterus, Umbilical hernia ORPHA:2143
Pterygium Colli, Isolated
Short nose OMIM:177990
Miller-Dieker Syndrome
Anteverted nares, Short nose ORPHA:531
Clark-Baraitser Syndrome
Anteverted nares, Depressed nasal bridge, Short nose, Low hanging columella OMIM:617752
Orofaciodigital Syndrome Xv
Anteverted nares, Wide nasal bridge OMIM:617127
Intellectual Developmental Disorder, Autosomal Dominant 51
Low hanging columella, Unilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Wide nasal base OMIM:617788
Blepharonasofacial Malformation Syndrome
Wide nose, Cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge ORPHA:1252
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Anteverted nares, Spina bifida occulta, Wide na... ORPHA:1797
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Short nose OMIM:613458
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Nasal congestion, Anosmia, Wide nasal bridge OMIM:600679
Achondrogenesis
Anteverted nares, Short nose, Umbilical hernia ORPHA:932
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrocephalus, Facial cleft ORPHA:268249
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Depressed nasal bridge, Short nose, Choanal atresia, Anteverted nares ORPHA:1914
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Shawl scrotum ORPHA:85277
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Short nose, Cryptorchidism, Prominent nasal bridge, Underdeveloped nasal ala... ORPHA:2083
Joubert Syndrome 10
Wide nasal bridge OMIM:300804
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Wide nasal bridge, Umbilical hernia OMIM:175700
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
Treacher-Collins Syndrome
Encephalocele, Patent ductus arteriosus, Facial cleft, Branchial fistula ORPHA:861
Filippi Syndrome
Supernumerary nipple, Broad columella, Wide nose, Cryptorchidism, Prominent nasal bridge, Underde... ORPHA:3255
Craniofacial-Deafness-Hand Syndrome
Short nose OMIM:122880
Teebi Hypertelorism Syndrome 2
Hypospadias, Depressed nasal bridge, Short nose, Broad nasal tip OMIM:619736
Gorlin Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Cryptorchidism, Wide nasal bridge ORPHA:377
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Cryptorchidism, Short nose ORPHA:2701
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Short nose, Wide nasal bridge OMIM:611936
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Wide nasal bridge OMIM:610127
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Cryptorchidism, Short nose, Wide nose OMIM:613457
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Bulbous nose, Wide nasal bridge ORPHA:1237
Frontonasal Dysplasia 2
Encephalocele, Intrauterine growth retardation, Tessier number 13 facial cleft OMIM:613451
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge OMIM:618316
Pentasomy X
Wide nasal bridge, Delayed puberty ORPHA:11
German Syndrome
Ambiguous genitalia, Cryptorchidism, Wide nasal bridge, Depressed nasal bridge ORPHA:2077
Achondrogenesis Type 1B
Anteverted nares, Short nose, Umbilical hernia ORPHA:93298
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Hypoplasia of the uterus, Female infertility, Depressed nasal bridge, Irregular menst... OMIM:110100
Fetal Trimethadione Syndrome
Ambiguous genitalia, Depressed nasal bridge, Short nose, Hypospadias ORPHA:1913
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Short nose, Prominent nasal bridge, Micropenis OMIM:613870
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Short nose, Broad columella OMIM:617865
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Umbilical hernia ORPHA:380
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Short nose, Precocious puberty OMIM:619356
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Prominent nasal bridge OMIM:300558
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nose, Wide nasal bridge OMIM:615032
Zimmermann-Laband Syndrome 3
Broad nasal tip, Wide nasal bridge OMIM:618658
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Wide nasal bridge ORPHA:352530
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Facial cleft, Tetralogy of Fallot ORPHA:306542
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bulbous nose, Depressed nasal bridge, Short nose, Umbilical hernia, Cryptorchidism, Wide nasal br... ORPHA:369891
Achondrogenesis Type 1A
Anteverted nares, Short nose, Umbilical hernia ORPHA:93299
8Q22.1 Microdeletion Syndrome
Depressed nasal ridge, Abnormality of the nares, Hypogonadism, Cryptorchidism, Wide nasal bridge ORPHA:178303
Aarskog-Scott Syndrome
Shawl scrotum, Umbilical hernia, Anteverted nares, Cryptorchidism, Wide nasal bridge ORPHA:915
Rafiq Syndrome
Bulbous nose, Underdeveloped nasolabial fold, Wide nose, Prominent nose, Wide nasal bridge OMIM:614202
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Micropenis, Neonatal death, Anteverted nares, Wide nasal bridge OMIM:618810
Developmental Delay With Or Without Dysmorphic Facies And Autism
Bulbous nose, Supernumerary nipple, Depressed nasal bridge, Wide nasal bridge, Narrow nose, Short... OMIM:618454
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Broad nasal tip, Depressed nasal bridge, Anteverted nares, Pseudohypoparathyroidism, Wide nasal b... OMIM:617157
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Woods Syndrome
Wide nasal bridge, Supernumerary nipple, Low hanging columella OMIM:615236
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose ORPHA:1495
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Wide nasal bridge, Shawl scrotum, Umbilical hernia ORPHA:1778
Melanocytic Nevus Syndrome, Congenital
Anteverted nares, Broad nasal tip, Short nose, Narrow nasal ridge OMIM:137550
Smith-Kingsmore Syndrome
Depressed nasal bridge, Cryptorchidism, Short nose, Umbilical hernia OMIM:616638
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Broad nasal tip, Short nose, Wide nasal bridge OMIM:618529
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Broad nasal tip, Long nose, Depressed nasal bridge, Wide nose, Low insertion of columella, Wide n... OMIM:619995
Intellectual Developmental Disorder, Autosomal Recessive 5
Prominent nose, Prominent nasal bridge, Underdeveloped nasal alae, Wide nasal bridge OMIM:611091
Craniosynostosis, Herrmann-Opitz Type
Short nose, Abnormality of the urethra, Convex nasal ridge ORPHA:2145
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Depressed nasal ridge ORPHA:77300
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Short nose, Aplasia of the uterus OMIM:266810
Mental Retardation, Buenos Aires Type
Hypospadias, Prominent nose, Wide nasal bridge OMIM:249630
Chromosome 16Q22 Deletion Syndrome
Hypospadias, Cryptorchidism, Wide nasal bridge, Depressed nasal bridge OMIM:614541
Snijders Blok-Campeau Syndrome
Prominent nose, Wide nasal bridge OMIM:618205
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Hypothyroidism, Short nose, Diabet... ORPHA:391372
Congenital Disorder Of Glycosylation, Type Iig
Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge OMIM:611209
Multiple Metaphyseal Dysplasia
Wide nasal bridge, Depressed nasal ridge ORPHA:93430
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Broad nasal tip, Short nose, Wide nasal bridge OMIM:614207
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Prominent nasal bridge, Wide nasal bridge OMIM:618356
Camptodactyly Syndrome, Guadalajara Type 1
Anteverted nares, Depressed nasal bridge, Short nose, Spina bifida ORPHA:1327
Glycosylphosphatidylinositol Biosynthesis Defect 11
Wide nasal bridge OMIM:616025
Orofaciodigital Syndrome Xviii
Prominent nasal bridge, Wide nasal bridge OMIM:617927
Chromosome 2P16.1-P15 Deletion Syndrome
Prominent nasal tip, Micropenis, Depressed nasal bridge, Recurrent upper respiratory tract infect... OMIM:612513
Blepharophimosis-Impaired Intellectual Development Syndrome
Labial hypoplasia, Cryptorchidism, Hypospadias, Wide nose, Recurrent bronchitis, Anteverted nares... OMIM:619293
Zechi-Ceide Syndrome
Wide nose, Underdeveloped nasal alae, Wide nasal bridge OMIM:612916
Prader-Willi-Like Syndrome
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:398073
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Hypoplasia of penis ORPHA:2547
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Bulbous nose, Depressed nasal bridge, Prominent nose, Anteverted nares, Wide nasal bridge ORPHA:2180
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Wide nasal bridge ORPHA:93267
Al-Raqad Syndrome
Short nose OMIM:616459
Craniofrontonasal Dysplasia
Depressed nasal ridge, Hypospadias, Shawl scrotum, Midline defect of the nose, Wide nasal bridge ORPHA:1520
Cutis Laxa, Autosomal Recessive, Type Iie
Broad nasal tip, Prominent nasolabial fold, Convex nasal ridge, Wide nasal bridge OMIM:619451
Autosomal Recessive Omodysplasia
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Short nose ORPHA:93329
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, Wide nasal bridge OMIM:314320
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Short nose, Depressed nasal ridge OMIM:618774
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Wide nasal bridge OMIM:613603
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal bridge, Wide nasal base OMIM:616521
Baraitser-Winter Syndrome 1
Micropenis, Short nose, Anteverted nares, Cryptorchidism, Wide nasal bridge OMIM:243310
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Bulbous nose, Short nose OMIM:614105
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Large beaked nose, Wide nasal bridge ORPHA:3369
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Bifid scrotum, Hypothyroidism, Umbilical hernia, Cryptorchidism, Wide nasal ... ORPHA:85321
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Anteverted nares, Depressed nasal bridge, Short nose OMIM:618961
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Prominent nasal bridge, Wide nasal bridge OMIM:619556
Klippel-Trénaunay Syndrome
Atrial septal defect, Pulmonary embolism, Prolonged bleeding time, Patent ductus arteriosus, Inte... ORPHA:90308
6Q25 Microdeletion Syndrome
External genital hypoplasia, Wide nasal bridge ORPHA:251056
Charlie M Syndrome
Wide nasal bridge ORPHA:1406
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge OMIM:618302
Non-Distal Trisomy 13Q
Cryptorchidism, Short nose ORPHA:1702
3Mc Syndrome 3
Growth delay, Facial cleft, Short stature OMIM:248340
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Low hanging columella, Hypospadias, Cryptorchidism, Prominent nasal bridge, Wide nasal bridge OMIM:618659
Intellectual Developmental Disorder, Autosomal Dominant 61
Prominent nasal bridge, Wide nasal bridge OMIM:618009
9q subtelomeric deletion syndrome
Anteverted nares, Short nose DECIPHER:52
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Wide nasal bridge OMIM:615716
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Short nose OMIM:613604
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Wide nasal bridge ORPHA:261295
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Wide nasal bridge, Small scrotum ORPHA:1970
Spastic Paraplegia 52, Autosomal Recessive
Bulbous nose, Prominent nose, Wide nasal bridge OMIM:614067
Intellectual Developmental Disorder, Autosomal Recessive 70
Wide nasal bridge OMIM:618402
Trisomy 18P
Bilateral cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge ORPHA:1715
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Depressed nasal bridge, Short nose, Shawl scrotum, Anteverte... OMIM:145420
Jung Syndrome
Hypothyroidism, Depressed nasal bridge, Wide nasal bridge ORPHA:2321
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... ORPHA:453499
Bartsocas-Papas Syndrome 1
Facial cleft, Short neck, Intrauterine growth retardation, Patent foramen ovale OMIM:263650
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Short nose, Wide nasal bridge OMIM:618437
Rhizomelic Chondrodysplasia Punctata, Type 2
Anteverted nares, Depressed nasal bridge, Wide nasal bridge OMIM:222765
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide nasal bridge OMIM:614859
Wiedemann-Steiner Syndrome
Wide nose, Depressed nasal tip, Wide nasal bridge OMIM:605130
Neonatal Adrenoleukodystrophy
Anteverted nares, Primary adrenal insufficiency, Wide nasal bridge ORPHA:44
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose OMIM:300887
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus, Facial cleft, Encephalocele, Abnormal heart morphology OMIM:219000
Mullegama-Klein-Martinez Syndrome
Depressed nasal bridge, Bulbous nose, Prominent nose, Wide nasal bridge OMIM:301022
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Short nose, Depressed nasal ridge ORPHA:2831
Fetal Hydantoin Syndrome
Cryptorchidism, Short nose, Depressed nasal ridge, Bifid scrotum ORPHA:1912
Frank-Ter Haar Syndrome
Depressed nasal bridge, Wide nasal bridge, Umbilical hernia ORPHA:137834
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Exencephaly, Encephalocele, Brachycephaly ORPHA:2211
Martin-Probst Syndrome
Chordee, Bifid scrotum, Micropenis, Hypoplastic nipples, Hypothyroidism, Umbilical hernia, Crypto... OMIM:300519
Warburg Micro Syndrome 2
Micropenis, Short nose, Hypoplastic labia majora, Cryptorchidism, Prominent nasal bridge, Small s... OMIM:614225
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Metaphyseal Acroscyphodysplasia
Wide nasal bridge, Depressed nasal ridge ORPHA:1240
Femoral-Facial Syndrome
Cryptorchidism, Short nose, Maternal diabetes, Long penis ORPHA:1988
Dermotrichic Syndrome
Depressed nasal bridge, Short nose ORPHA:99688
Holoprosencephaly 1
Alobar holoprosencephaly, Short stature, Single ventricle, Ethmocephaly, Facial cleft OMIM:236100
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Bulbous nose, Short nose, Prominent nasal bridge OMIM:618828
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge OMIM:616158
Coffin-Siris Syndrome 9
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Low hanging colu... OMIM:615866
20Q11.2 Microduplication Syndrome
Abnormal nasal bridge morphology, Bifid scrotum, Micropenis, Depressed nasal bridge, Short nose, ... ORPHA:363659
Waardenburg-Shah Syndrome
Abnormality of the nose, Prominent nasal bridge, Underdeveloped nasal alae, Wide nasal bridge ORPHA:897
Edinburgh Malformation Syndrome
Anteverted nares, Short nose, Choanal atresia ORPHA:1895
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Hypospadias, Glandular hypospadias, Wide nasal bridge, Shawl scrotum ORPHA:2575
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Wide nasal bridge OMIM:600906
8Q12 Microduplication Syndrome
Wide nasal bridge ORPHA:228399
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge ORPHA:163654
Noonan Syndrome 6
Depressed nasal bridge, Cryptorchidism, Wide nasal bridge OMIM:613224
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Testicular torsion, Wide nasal bridge ORPHA:75496
Micro Syndrome
Hypoplasia of penis, Clitoral hypoplasia, Hypoplastic labia minora, Short nose, Delayed puberty, ... ORPHA:2510
Intellectual Developmental Disorder, Autosomal Recessive 13
Wide nasal bridge OMIM:613192
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Cryptorchidism, Wide nasal bridge ORPHA:98791
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Hypospadias, Short nose, Anteverted nares, Cryptorchidism, Underdeveloped nasal al... OMIM:613026
Gms Syndrome
Depressed nasal bridge, Short nose OMIM:138770
Verheij Syndrome
Short nose, Wide nasal bridge OMIM:615583
Intellectual Developmental Disorder, Autosomal Dominant 43
Low hanging columella, Umbilical hernia, Anteverted nares, Prominent nasal bridge, Wide nasal bridge OMIM:616977
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Umbilical hernia, Enlarged naris, Anteverted nares, Short columella, Prominent nasolabial fold, W... OMIM:616266
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Wide nasal bridge OMIM:218000
Waardenburg Syndrome Type 1
Short nose, Meningocele, Spina bifida, Underdeveloped nasal alae, Wide nasal bridge ORPHA:894
Brachydactyly-Preaxial Hallux Varus Syndrome
Wide nasal bridge ORPHA:1278
Hamel Cerebro-Palato-Cardiac Syndrome
Bulbous nose, Wide nasal bridge ORPHA:93946
Congenital Disorder Of Glycosylation, Type Iu
Short nose OMIM:615042
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose ORPHA:228384
Nablus Mask-Like Facial Syndrome
Labial hypoplasia, Micropenis, Depressed nasal bridge, Hypoplastic nipples, Short nose, Cryptorch... OMIM:608156
Cantu Syndrome
Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Umbilical hernia OMIM:239850
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Cryptorchidism, Wide nasal bridge, Umbilical hernia OMIM:601499
Holoprosencephaly
Abnormal pulmonary valve morphology, Hydrocephalus, Holoprosencephaly, Short neck, Arrhythmia, Te... ORPHA:2162
Warburg Micro Syndrome 3
Micropenis, Hypoplastic labia minora, Short nose, Decreased testicular size, Small scrotum OMIM:614222
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Depressed nasal b... ORPHA:363528
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Bulbous nose, Wide nasal bridge ORPHA:261304
Benign Samaritan Congenital Myopathy
Wide nasal bridge ORPHA:324581
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Pde4D Haploinsufficiency Syndrome
Prominent nasal tip, Elevated circulating parathyroid hormone level, Hypospadias, Depressed nasal... ORPHA:439822
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Short nose, Delayed puberty ORPHA:496790
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge OMIM:617333
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Wide nasal bridge OMIM:601450
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose ORPHA:2835
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Anteverted nares, Wide nasal bridge OMIM:618342
Microform Holoprosencephaly
Hypoplasia of penis, Panhypopituitarism, Maternal diabetes, Narrow nasal bridge, Hypothyroidism, ... ORPHA:280200
Dandy-Walker Malformation With Postaxial Polydactyly
Depressed nasal bridge, Wide nasal bridge OMIM:220220
Down Syndrome
Type II diabetes mellitus, Depressed nasal ridge, Depressed nasal bridge, Hypothyroidism, Short n... ORPHA:870
Kosaki Overgrowth Syndrome
Wide nasal bridge OMIM:616592
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Prominent nasal bridge, Wi... OMIM:300260
Joubert Syndrome 28
Wide nasal bridge OMIM:617121
Spinocerebellar Ataxia With Dysmorphism
Anteverted nares, Short nose OMIM:271270
Mulibrey Nanism
Depressed nasal bridge, Wide nose, Wide nasal bridge OMIM:253250
Ruvalcaba Syndrome
Cryptorchidism, Short nose, Convex nasal ridge, Delayed puberty ORPHA:3121
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Short nose, Wide nose, Delayed puberty, Diabetes mellitus, Anteverted nares ORPHA:391408
Scarf Syndrome
Bifid scrotum, Micropenis, Hypoplastic nipples, Umbilical hernia, Cryptorchidism, Perineal hyposp... OMIM:312830
Congenital Neuronal Ceroid Lipofuscinosis
Wide nasal bridge ORPHA:168486
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Supernumerary nipple, Micropenis, Hypospadias, Depressed nasal bridge, Triangular nasal tip, Ante... OMIM:141750
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Bulbous nose, Short nose, Choanal atresia ORPHA:284169
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Abnormal nasal morphology, Anteverted nares, Cryptorchidism, Wide nasal b... ORPHA:404440
Goldberg-Shprintzen Megacolon Syndrome
Hypospadias, Wide nasal bridge, Bifid scrotum ORPHA:66629
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Anteverted nares, Depressed nasal bridge, Short nose, Wide nose OMIM:613320
Radio-Tartaglia Syndrome
Bulbous nose, Precocious puberty, Prominent nasal tip, Depressed nasal bridge, Anteverted nares, ... OMIM:619312
Even-Plus Syndrome
Bifid nasal tip, Short nose, Depressed nasal ridge OMIM:616854
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low hanging columella, Broad columella, Narrow nasal bridge, Short nose, Anteverted nares, Wide n... OMIM:619383
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Broad nasal tip, Short nose, Anteverted na... OMIM:615873
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Short nose OMIM:616420
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Bulbous nose, Prominent nose, Wide nasal bridge OMIM:606220
Trisomy 8Q
Myelomeningocele, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism, Wide ... ORPHA:1752
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short nose, Spina bifida occulta ORPHA:1185
Bainbridge-Ropers Syndrome
Precocious puberty, Supernumerary nipple, Broad nasal tip, Depressed nasal bridge, Short nose, Ch... OMIM:615485
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Short nose, Decreased fertility OMIM:234050
Chromosome 10Q26 Deletion Syndrome
Flared nostrils, Convex nasal ridge, Small scrotum, Micropenis, Prominent nose, Cryptorchidism, W... OMIM:609625
Waardenburg Syndrome, Type 2A
Underdeveloped nasal alae, Wide nasal bridge OMIM:193510
Codas Syndrome
Anteverted nares, Depressed nasal bridge, Short nose, Midline defect of the nose ORPHA:1458
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Bulbous nose, Decreased circulating androgen concentration, Abnormal external genitalia, Decrease... ORPHA:95699
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Wide nasal bridge OMIM:309620
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae ORPHA:163961
Okur-Chung Neurodevelopmental Syndrome
Anteverted nares, Wide nasal bridge OMIM:617062
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Macs Syndrome
Hypergonadotropic hypogonadism, Urethral stenosis, Umbilical hernia, Cryptorchidism, Wide nasal b... OMIM:613075
Liang-Wang Syndrome
Wide nasal bridge OMIM:618729
Man1B1-Cdg
Underdeveloped nasolabial fold, Wide nose, Prominent nose, Wide nasal bridge ORPHA:397941
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Bulbous nose, Short nose, Decreased response to growth hormone stimulat... ORPHA:485405
Stickler Syndrome Type 1
Short nose ORPHA:90653
Congenital Disorder Of Glycosylation, Type Id
Depressed nasal bridge, Bulbous nose, Wide nasal bridge OMIM:601110
Congenital Disorder Of Glycosylation, Type 2V
Hydrocele testis, Bulbous nose, Low hanging columella, Underdeveloped nasal alae, Wide nasal bridge OMIM:619493
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia, Umbilical hernia, Anteverted nares, Wide nasal b... ORPHA:324313
Lig4 Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Hypothyroidism, Cryptorchidism, Large beaked nose... ORPHA:99812
Bartsocas-Papas Syndrome
Ambiguous genitalia, Short nose, Underdeveloped nasal alae, Hypoplastic male external genitalia ORPHA:1234
Roifman-Chitayat Syndrome
Depressed nasal bridge, Wide nasal bridge, Umbilical hernia OMIM:613328
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Male pseudohermaphroditism, Cryptorchidism, Wide nasal bridge ORPHA:2075
Harel-Yoon Syndrome
Short nose OMIM:617183
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Short nose, Anteverted nares, Wide nasal bridge OMIM:616897
Smith-Magenis Syndrome
Precocious puberty, Depressed nasal bridge, Hypothyroidism, Short nose, Delayed puberty, Antevert... ORPHA:819
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Short nose OMIM:605309
Craniometaphyseal Dysplasia
Depressed nasal bridge, Wide nasal bridge ORPHA:1522
Arthrogryposis, Distal, Type 2A
Spina bifida occulta, Short nose, Cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge OMIM:193700
Waardenburg Syndrome
Myelomeningocele, Abnormal vagina morphology, Abnormality of the uterus, Prominent nasal bridge, ... ORPHA:3440
Lowry-Maclean Syndrome
Convex nasal ridge, Hypospadias, Short nose, Short nasal bridge, Choanal atresia, Bilateral crypt... ORPHA:2409
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Neonatal death, Umbilical hernia, Anteverted nares, Cryptorchidism, Wide nasal bridge OMIM:614052
Temple-Baraitser Syndrome
Depressed nasal bridge, Wide nose, Thick nasal alae, Anteverted nares, Wide nasal bridge ORPHA:420561
Simosa Craniofacial Syndrome
Long nose, Depressed nasal tip, Underdeveloped nasal alae, Wide nasal bridge OMIM:182150
Fibrochondrogenesis 2
Anteverted nares, Short nose OMIM:614524
Trisomy 12P
Short nose, Supernumerary nipple, Wide nasal bridge ORPHA:1699
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Wide nasal bridge, Diabetes insipidus OMIM:611087
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short nose, Underdeveloped nasal alae, Meningocele ORPHA:2031
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Cryptorchidism, Prominent nasal bridge, Wide nasal bridge OMIM:617452
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Wide nasal bridge ORPHA:89844
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Anteverted nares, Wide nasal bridge ORPHA:50812
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Cryptorchidism, Micropenis, Hypospadias, Umbilical hernia, Recto... OMIM:300000
Flat Face-Microstomia-Ear Anomaly Syndrome
Small scrotum, Long nose, Cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge ORPHA:1968
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Long nose, Narrow nose, Short nose, Cryptorchidism OMIM:617602
Tetrasomy 18P
Short nose ORPHA:3307
Odontochondrodysplasia
Depressed nasal bridge, Short nose ORPHA:166272
Dislocation Of The Hip-Dysmorphism Syndrome
Anteverted nares, Wide nasal bridge, Depressed nasal ridge ORPHA:2412
Toluene Embryopathy
Cryptorchidism, Short nose ORPHA:1920
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Short stature, Branchial fistula, Ventricular septal defect, Aortic regurgi... ORPHA:261330
Meier-Gorlin Syndrome 6
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Depressed nasal bri... OMIM:616835
Craniometaphyseal Dysplasia, Autosomal Recessive
Abnormal nasopharynx morphology, Nasal congestion, Wide nasal bridge, Bony paranasal bossing OMIM:218400
Axenfeld-Rieger Syndrome
Hypospadias, Abnormality of the hypothalamus-pituitary axis, Wide nasal bridge, Depressed nasal b... ORPHA:782
Robinow Syndrome, Autosomal Dominant 2
Micropenis, Depressed nasal bridge, Short nose, Umbilical hernia, Anteverted nares, Cryptorchidism OMIM:616331
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Wide nasal bridge OMIM:607906
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Hypoplastic nipples OMIM:618505
Sweeney-Cox Syndrome
Choanal atresia, Short columella, Bilateral cryptorchidism, Underdeveloped nasal alae, Wide nasal... OMIM:617746
Suleiman-El-Hattab Syndrome
Cryptorchidism, Wide nasal bridge OMIM:618950
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft ORPHA:1236
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Wide nasal bridge, Micropenis OMIM:615966
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Short nose OMIM:602613
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Depressed nasal bridge, Wide nasal bridge OMIM:617102
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Anteverted nares, Short nose, Spina bifida occulta OMIM:617877
Distal Monosomy 9P
Hypospadias, Short nose, Wide nasal bridge, Hypoplastic labia majora ORPHA:1642
Chromosome 13Q33-Q34 Deletion Syndrome
Low hanging columella, Bifid scrotum, Encephalocele, Hypospadias, Anencephaly, Choanal atresia, P... OMIM:619148
Rhizomelic Limb Shortening With Dysmorphic Features
Wide nasal bridge OMIM:618821
Otopalatodigital Syndrome Type 1
Depressed nasal bridge, Wide nasal bridge ORPHA:90650
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Short nose OMIM:608776
Spinocerebellar Ataxia 47
Wide nasal bridge OMIM:617931
Tetrasomy 12P
Anteverted nares, Short nose ORPHA:884
Oculocerebrodental Syndrome
Depressed nasal bridge, Thick nasal alae, Wide nasal bridge, Broad columella ORPHA:557003
Focal Facial Dermal Dysplasia Type Iii
Wide nasal bridge, Depressed nasal ridge ORPHA:1807
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency, Anteverted nares, Wide nasal bridge OMIM:202370
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Hypoplasia of penis, Hypospadias, Abnormality of the nares, Abnormali... ORPHA:2315
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Micropenis, Male pseudohermaphroditism, Hypospadias, Short nose, Shawl scrotum, Anteverted nares,... ORPHA:2282
Koolen-De Vries Syndrome
Bulbous nose, Hypospadias, Hypothyroidism, Thick nasal alae, Cryptorchidism, Prominent nasal brid... ORPHA:96169
Pilodental Dysplasia With Refractive Errors
Wide nasal bridge OMIM:262020
Endocrine-Cerebroosteodysplasia
Sex reversal, Micropenis, Hypospadias, Depressed nasal tip, Wide nasal bridge, Ambiguous genitali... OMIM:612651
3C Syndrome
Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Adrenal hypoplasia, Short nose, Wide na... ORPHA:7
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Short nose, Decreased response to growth hormone stimulation test OMIM:601853
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Oligomeganephronia
Branchial cyst, Hypertension, Secundum atrial septal defect ORPHA:2260
Zechi-Ceide Syndrome
Wide nose, Wide nasal bridge ORPHA:217017
Donnai-Barrow Syndrome
Bicornuate uterus, Broad nasal tip, Depressed nasal bridge, Short nose, Umbilical hernia OMIM:222448
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, Cryptorchidism, Wide nasal bridge ORPHA:3304
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Wide nasal bridge OMIM:182290
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Bulbous nose, Short nose OMIM:618430
Distal Trisomy 5Q
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Short nose, Cryptorchidism, Prominent nasal b... ORPHA:96097
Developmental And Epileptic Encephalopathy 89
Depressed nasal bridge, Wide nasal bridge, Neonatal death, Hypoplastic labia minora, Clitoral hyp... OMIM:619124
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Bulbous nose, Wide nasal bridge OMIM:619320
Schneckenbecken Dysplasia
Short nose, Stillbirth, Umbilical hernia OMIM:269250
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Alkuraya-Kucinskas Syndrome
Micropenis, Depressed nasal bridge, Short nose, Anteverted nares, Small scrotum OMIM:617822
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose OMIM:615539
Trisomy 20P
Hypospadias, Short nose, Umbilical hernia, Anteverted nares, Cryptorchidism, Spina bifida, Macroo... ORPHA:261318
8P23.1 Microdeletion Syndrome
Hypospadias, Short nose, Cryptorchidism, Prominent nasal bridge, Wide nasal bridge ORPHA:251071
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Spinal dysraphism, Meningocele, Encephalocele, Wide nasal bridge ORPHA:1908
C Syndrome
Short nose, Clitoral hypertrophy, Anteverted nares, Cryptorchidism, Wide nasal bridge OMIM:211750
Meckel Syndrome 12
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