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

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 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
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cholelithiasis, Precocious puberty, Cryptorch... ORPHA:904

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft OMIM:600776
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Ventricular septal defect, Facial cleft, Anterior encephalocele OMIM:601357
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Anteverted nares, Testicular atrophy OMIM:601163
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Anteverted nares, Wide nasal bridge ORPHA:1621
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft ORPHA:3374
Trigonocephaly 2
Depressed nasal bridge, Wide nasal bridge OMIM:614485
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Cleft ala nasi, Wide nasal bridge, Underdeveloped nasal alae ORPHA:2007
Aarskog-Scott Syndrome
Decreased serum testosterone concentration, Anteverted nares, Elevated circulating luteinizing ho... OMIM:305400
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Wide nasal bridge OMIM:209970
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias ORPHA:1355
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Non-Distal Duplication 10Q
Cryptorchidism, Short nose, Depressed nasal bridge, Convex nasal ridge ORPHA:1695
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
Wide nasal bridge, Broad nasal tip OMIM:600093
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Anophthalmia Plus Syndrome
Facial cleft, Spina bifida ORPHA:1104
Fg Syndrome 4
Wide nasal bridge OMIM:300422
Microphthalmia, Syndromic 12
Broad nasal tip, Cryptorchidism, Wide nasal bridge, Bicornuate uterus, Neonatal death OMIM:615524
Fetal Akinesia Deformation Sequence 4
Neonatal death, Cryptorchidism, Wide nasal bridge OMIM:618393
Diabetes Insipidus, Neurohypophyseal
Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose OMIM:125700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
17Q21.31 Microduplication Syndrome
Short nose, Anteverted nares, Delayed puberty ORPHA:217340
Rhiny
Short nose, Anteverted nares OMIM:180360
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Thick nasal alae, Wide nasal bridge, Broad nasal tip OMIM:618147
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares ORPHA:2015
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft, Ethmoidal encephalocele OMIM:607597
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Wide nasal bridge, Polycystic ovaries ORPHA:2229
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Alazami Syndrome
Wide nose, Retractile testis, Depressed nasal bridge, Wide nasal bridge OMIM:615071
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Depressed nasal bridge, Wide nasal bridge OMIM:609528
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Short nec... ORPHA:99776
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Mosaic Trisomy 14
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Hypospadias, Cryptorchidism, Wide ... ORPHA:1703
Intellectual Disability, Wolff Type
Cryptorchidism, Bulbous nose, Hypospadias, Wide nasal bridge ORPHA:3080
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Acrofacial Dysostosis, Catania Type
Short stature, Facial cleft, Webbed neck, Intrauterine growth retardation, Spina bifida occulta ORPHA:1786
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Anteverted nares, Wide nasal bridge OMIM:619311
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Wide nasal bridge ORPHA:3207
Frontofacionasal Dysplasia
Encephalocele, Short stature, Facial cleft ORPHA:1791
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Lamb-Shaffer Syndrome
Bulbous nose, Depressed nasal bridge, Wide nasal bridge OMIM:616803
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum OMIM:302950
Acromelic Frontonasal Dysostosis
Encephalocele, Midline facial cleft OMIM:603671
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Micropenis, Hypospadias, Wide nasal bridge OMIM:612626
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Short nose, Depressed nasal bridge, Hypospadias OMIM:616910
Intellectual Developmental Disorder, Autosomal Recessive 79
Wide nasal bridge, Oligomenorrhea, Broad nasal tip OMIM:620393
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge OMIM:200130
Chromosome 6Q11-Q14 Deletion Syndrome
Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Umbilical hernia, Short nose OMIM:613544
Joubert Syndrome 15
Exencephaly OMIM:614464
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares ORPHA:1450
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
Wide nasal bridge OMIM:619844
Acrofacial Dysostosis, Weyers Type
Advanced eruption of teeth, Mild short stature, Facial cleft ORPHA:952
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft, Abnormal heart morphology OMIM:239800
Retinitis Pigmentosa
Hypoplasia of penis, Anteverted nares, Hyperinsulinemia, Wide nasal bridge, Hypogonadism, Type II... ORPHA:791
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge OMIM:155050
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Megalencephaly
Macroorchidism, Long penis, Wide nasal bridge ORPHA:2477
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Cofs Syndrome
Abnormal nasal morphology, Hypogonadism, Wide nasal bridge ORPHA:1466
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose, Hypoplastic female external geni... OMIM:618577
Perlman Syndrome
Hypoplasia of penis, Anteverted nares, Cryptorchidism, Hyperinsulinemia, Wide nasal bridge, Abnor... ORPHA:2849
Potocki-Shaffer Syndrome
Short nose, Micropenis, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft OMIM:600251
Craniodiaphyseal Dysplasia, Autosomal Dominant
Depressed nasal bridge, Wide nasal bridge, Elevated circulating parathyroid hormone level, Concav... OMIM:122860
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... OMIM:614732
Supernumerary Nostril
Facial cleft ORPHA:141096
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Micropenis, Short columell... ORPHA:171839
Craniodiaphyseal Dysplasia
Depressed nasal bridge, Wide nasal bridge ORPHA:1513
Autosomal Dominant Omodysplasia
Bifid scrotum, Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Ambiguous genitalia, ... ORPHA:93328
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Delayed puberty ORPHA:1825
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Wide nasal bridge, Broad nasal tip ORPHA:73273
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Wide nasal bridge OMIM:614870
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Bilateral cryptorchidism, Coronal hypo... OMIM:619859
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Wide nasal bridge, Depressed nasal tip, Midshaft hypospadias, Anterior hypopituit... ORPHA:2863
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, Wide nasal bridge OMIM:618388
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Facial cleft OMIM:217100
Autism Spectrum Disorder Due To Auts2 Deficiency
Anteverted nares, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Prominent nasal tip ORPHA:352490
Lissencephaly 4
Wide nasal bridge OMIM:614019
Filippi Syndrome
Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Ambiguous genitalia, Low hanging co... OMIM:272440
Intellectual Developmental Disorder, X-Linked 104
Bifid nasal tip, Wide nasal bridge OMIM:300983
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Short nose OMIM:300143
Distal Duplication 18Q
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Cryptorchidism, A... ORPHA:1716
Freeman-Sheldon Syndrome
Cryptorchidism, Depressed nasal ridge, Wide nasal bridge, Underdeveloped nasal alae ORPHA:2053
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Tonne-Kalscheuer Syndrome
Decreased testicular size, Hypospadias, Prominent nasal bridge, Prominent nose, Cryptorchidism, W... OMIM:300978
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... ORPHA:521308
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1832
Fg Syndrome 5
Depressed nasal bridge, Hypospadias, Anteverted nares, Short nose OMIM:300581
Oculomaxillofacial Dysostosis
Short stature, Facial cleft ORPHA:1794
Chung-Jansen Syndrome
Cryptorchidism, Short nose, Anteverted nares OMIM:617991
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Short nose ORPHA:217385
Pierpont Syndrome
Wide nose, Broad nasal tip, Cryptorchidism, Micropenis, Short nose OMIM:602342
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism, Wide nasal bridge OMIM:619595
Warburg Micro Syndrome 1
Cryptorchidism, Anteverted nares, Wide nasal bridge, External genital hypoplasia OMIM:600118
Orofaciodigital Syndrome Xi
Bulbous nose, Wide nasal bridge OMIM:612913
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Shawl scrotum ORPHA:2256
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ... OMIM:615583
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Wide nasal base, Low hanging columella OMIM:617788
Lissencephaly, X-Linked, 2
Prominent nasal bridge, Wide nasal bridge, Ambiguous genitalia, Micropenis, Decreased testicular ... OMIM:300215
X-Linked Intellectual Disability, Snyder Type
Anteverted nares, Prominent nasal bridge, Hypospadias, Cryptorchidism, Bulbous nose, Abnormality ... ORPHA:3063
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Ring Chromosome 6 Syndrome
Wide nasal bridge ORPHA:1448
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:401935
Oculocerebrocutaneous Syndrome
Hydrocephalus, Facial cleft ORPHA:1647
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Pontocerebellar Hypoplasia Type 10
Wide nasal bridge, Underdeveloped nasal alae ORPHA:411493
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Short nose, Cryptorchidism OMIM:615419
Intellectual Developmental Disorder, Autosomal Recessive 74
Wide nasal bridge, Prominent nose OMIM:617169
X-Linked Mandibulofacial Dysostosis
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology ORPHA:1131
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Depressed nasal bridge, Hypospadias, Anteverted nares, Cryptorchidism, Congeni... OMIM:614613
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Micropenis ORPHA:2872
Velo-Facial-Skeletal Syndrome
Wide nasal bridge ORPHA:3424
Ring Chromosome 1 Syndrome
Anteverted nares, Wide nasal bridge ORPHA:1437
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Micropenis, Wide nasal bridge OMIM:614684
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Wide nasal bridge, Polycystic ovaries, Convex nasal ridge ORPHA:1580
14Q11.2 Microdeletion Syndrome
Short nose, Depressed nasal bridge ORPHA:261120
Ohdo Syndrome
Small scrotum, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Short... OMIM:249620
Intellectual Developmental Disorder, Autosomal Dominant 26
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Umbilical hernia, Prominent nasal tip OMIM:615834
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Chromosome 3Pter-P25 Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Cryptorchidism... OMIM:613792
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Wide nose, Wide nasal bridge, Underdeveloped nasal alae ORPHA:1252
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... ORPHA:1248
Peroxisomal Acyl-Coa Oxidase Deficiency
Depressed nasal bridge, Wide nasal bridge OMIM:264470
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Hypogonadism, Short nose, Spina bifida occulta ORPHA:2983
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Joubert Syndrome 37
Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micropenis, Decreased testicular ... OMIM:619185
Kahrizi Syndrome
Bulbous nose, Wide nasal bridge OMIM:612713
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Bulbous nose, Wide nasal bridge ORPHA:1237
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose ORPHA:1529
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Wide nasal bridge ORPHA:166024
Acrodysostosis
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Depressed nasal ridge, Wide nasal bridg... ORPHA:950
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Wide nasal bridge, Underdeveloped nasal alae ORPHA:1516
Mulibrey Nanism
Wide nasal bridge ORPHA:2576
Acrocephalopolydactyly
Short nose, Depressed nasal ridge ORPHA:221054
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Delayed puberty ORPHA:2598
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Spina bifida occulta ORPHA:1514
Monosomy 5P
Wide nasal bridge ORPHA:281
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hypospadias, Wide nasal bridge, Cryptorchidism OMIM:175700
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Wide nasal bridge, Prominent nose ORPHA:137831
Brunet-Wagner Neurodevelopmental Syndrome
Wide nasal bridge OMIM:619690
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Peho-Like Syndrome
Short nose OMIM:617507
Spondylometaphyseal Dysplasia, X-Linked
Depressed nasal bridge, Anteverted nares, Wide nasal bridge OMIM:313420
Zimmermann-Laband Syndrome 3
Wide nasal bridge, Broad nasal tip OMIM:618658
Filippi Syndrome
Wide nose, Prominent nasal bridge, Supernumerary nipple, Underdeveloped nasal alae, Cryptorchidis... ORPHA:3255
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Depressed nasal ridge, Ambiguous genitalia, Short nose OMIM:613885
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchi... ORPHA:2083
Intellectual Developmental Disorder, Autosomal Dominant 23
Depressed nasal bridge, Anteverted nares, Hypospadias, Bulbous nose, Wide nasal bridge OMIM:615761
Trigonocephaly 1
Short nose, Long penis, Wide nasal bridge OMIM:190440
Gand Syndrome
Wide nasal bridge, Broad nasal tip OMIM:615074
Omodysplasia 2
Dyspareunia, Depressed nasal bridge, Hypospadias, Bifid nasal tip, Cryptorchidism, Wide nasal bri... OMIM:164745
Frontonasal Dysplasia 1
Broad nasal tip, Bifid nasal tip, Anterior basal encephalocele, Wide nasal bridge, Short columell... OMIM:136760
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Short nose, Anteverted nares ORPHA:2701
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose ORPHA:2370
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp... ORPHA:1295
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge ORPHA:3366
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Short nose ORPHA:1914
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Intellectual Developmental Disorder, Autosomal Recessive 45
Bulbous nose, Anteverted nares, Wide nasal bridge OMIM:615979
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Anteverted nares, Wide nasal bridge, Hydrocele testis, Neonatal death, Micropenis OMIM:618810
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Wide nasal bridge, Underdeveloped nasal alae OMIM:248910
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella OMIM:617752
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Umbilical hernia, Wide nasal bridge, Shawl scrotum, Cryptorchidism ORPHA:1778
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose ORPHA:969
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Neonatal death, Short nose OMIM:610015
German Syndrome
Ambiguous genitalia, Cryptorchidism, Depressed nasal bridge, Wide nasal bridge ORPHA:2077
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Short nose, Aplasia of the uterus OMIM:266810
Frontonasal Dysplasia 2
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... OMIM:613451
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Wide nasal bridge, Umbilical hernia, Short ... ORPHA:369891
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Occipital encephalocele, Wide nasal bridge, Cryptorchidism OMIM:224410
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, Depressed nasal bridge, Wide nasal bridge, Hypospadias OMIM:614541
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Boomerang Dysplasia
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae OMIM:112310
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Thyroid carcinoma, Short ... ORPHA:210548
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cryptorchidism, Wide nasal bridge OMIM:620316
Pterygium Colli, Isolated
Short nose OMIM:177990
Miller-Dieker Syndrome
Short nose, Anteverted nares ORPHA:531
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect, Facial cleft ORPHA:268249
Autosomal Recessive Omodysplasia
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose ORPHA:93329
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Short nose, Anteverted nares OMIM:618506
Pallister-Hall-Like Syndrome
Occipital encephalocele, Depressed nasal bridge, Micropenis, Anterior hypopituitarism, Short nose OMIM:241800
Donnai-Barrow Syndrome
Depressed nasal bridge, Bicornuate uterus, Abnormality of the uterus, Umbilical hernia, Short nose ORPHA:2143
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nose, Wide nasal bridge OMIM:615032
Aarskog-Scott Syndrome
Anteverted nares, Cryptorchidism, Wide nasal bridge, Shawl scrotum, Umbilical hernia ORPHA:915
Spastic Paraplegia 47, Autosomal Recessive
Bulbous nose, Wide nasal bridge OMIM:614066
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Facial cleft ORPHA:861
Joubert Syndrome 10
Wide nasal bridge OMIM:300804
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Depressed nasal bridge, Anteverted nares, Hypospadias, Prominent nose, Cryptorchidism, Wide nasal... OMIM:618316
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Bulbous nose, Anteverted nares, Wide nasal bridge OMIM:300958
Glycosylphosphatidylinositol Biosynthesis Defect 11
Umbilical hernia, Wide nasal bridge OMIM:616025
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Periventricular Nodular Heterotopia 7
Cryptorchidism, Short nose, Anteverted nares OMIM:617201
Teebi Hypertelorism Syndrome 2
Short nose, Depressed nasal bridge, Hypospadias, Broad nasal tip OMIM:619736
14Q11.2 Microduplication Syndrome
Hypothyroidism, Depressed nasal bridge, Wide nasal bridge ORPHA:261229
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Shawl scrotum ORPHA:85277
Achondrogenesis
Umbilical hernia, Short nose, Anteverted nares ORPHA:932
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Depressed nasal ridge, Wide nasal bridge, Hypogonadism, Abnormal nostril morphology ORPHA:178303
Teebi Hypertelorism Syndrome 1
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hydrocele testis, Bicornuate uterus,... OMIM:145420
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip OMIM:137550
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Spina bifida occulta, Anteverted nares, Wide na... ORPHA:1797
Non-Distal Duplication 13Q
Cryptorchidism, Short nose ORPHA:1702
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Chromosome 18P Deletion Syndrome
Anteverted nares, Cryptorchidism, Depressed nasal ridge, Wide nasal bridge, Gonadal dysgenesis, M... OMIM:146390
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Wide nasal bridge ORPHA:380
Orofaciodigital Syndrome Xv
Anteverted nares, Wide nasal bridge OMIM:617127
Lig4 Syndrome
Prominent nose, Cryptorchidism, Wide nasal bridge, Type II diabetes mellitus, Micropenis, Hypothy... OMIM:606593
Smith-Kingsmore Syndrome
Umbilical hernia, Short nose, Depressed nasal bridge, Cryptorchidism OMIM:616638
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Small scrotum, Wide nasal bridge ORPHA:1970
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Depressed nasal ridge, Wide nasal bridge, Underdeveloped nasal alae ORPHA:77300
Pentasomy X
Wide nasal bridge, Delayed puberty ORPHA:11
Trisomy 18P
Bilateral cryptorchidism, Wide nasal bridge, Underdeveloped nasal alae ORPHA:1715
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, Depressed nasal bridge, Precocious puberty, Cryptorchidism, Wide nasal bridg... OMIM:620073
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Anteverted nares, Wide nasal bridge, Short nose OMIM:613604
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Tetralogy of Fallot, Facial cleft ORPHA:306542
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Wide nasal bridge OMIM:610127
Rafiq Syndrome
Wide nose, Prominent nose, Bulbous nose, Wide nasal bridge, Underdeveloped nasolabial fold OMIM:614202
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Increased circulatin... OMIM:110100
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Wide nasal bridge OMIM:618067
Achondrogenesis Type 1B
Umbilical hernia, Short nose, Anteverted nares ORPHA:93298
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Hypothyr... ORPHA:85321
Baraitser-Winter Syndrome 1
Anteverted nares, Cryptorchidism, Wide nasal bridge, Micropenis, Short nose OMIM:243310
Aminoacylase 1 Deficiency
Wide nasal bridge OMIM:609924
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide nose, Anteverted nares, Hypospadias, Narrow nasal ridge, Underdeveloped nasal alae, Cryptorc... OMIM:619293
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Low hanging columella OMIM:618659
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Wide nasal bridge, Congenital hypothyroidism ORPHA:352530
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism, Short nose, Depressed nasal ridge ORPHA:1912
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose ORPHA:1495
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Intellectual Developmental Disorder, X-Linked 30
Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Prominent nasal bridge, Short nose, Micropenis OMIM:613870
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Short nose, Anteverted nares OMIM:619356
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Short nose OMIM:613443
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Wide nasal bridge, Broad nasal tip OMIM:615716
Achondrogenesis Type 1A
Umbilical hernia, Short nose, Anteverted nares ORPHA:93299
Woods Syndrome
Wide nasal bridge, Supernumerary nipple, Low hanging columella OMIM:615236
Intellectual Developmental Disorder, Autosomal Recessive 5
Prominent nasal bridge, Wide nasal bridge, Underdeveloped nasal alae, Prominent nose OMIM:611091
Cutis Laxa, Autosomal Recessive, Type Iie
Prominent nasolabial fold, Convex nasal ridge, Wide nasal bridge, Broad nasal tip OMIM:619451
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Wide nasal bridge OMIM:616521
Fetal Trimethadione Syndrome
Ambiguous genitalia, Short nose, Depressed nasal bridge, Hypospadias ORPHA:1913
Holoprosencephaly 1
Short stature, Alobar holoprosencephaly, Facial cleft, Ethmocephaly, Single ventricle OMIM:236100
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... OMIM:613038
Noonan Syndrome 6
Cryptorchidism, Depressed nasal bridge, Wide nasal bridge OMIM:613224
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, Wide nasal bridge OMIM:314320
Axenfeld-Rieger Syndrome, Type 2
Umbilical hernia, Hypospadias, Wide nasal bridge, Cryptorchidism OMIM:601499
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Broad nasal tip, Recurrent upper respiratory tract infections, Prominent nasol... ORPHA:391372
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Short nose, Delayed puberty ORPHA:496790
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Low insertion o... OMIM:619995
Cebalid Syndrome
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge OMIM:618774
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Convex nasal ridge, Wide nasal bridge ORPHA:3369
Orofaciodigital Syndrome Xviii
Prominent nasal bridge, Wide nasal bridge OMIM:617927
Craniofrontonasal Dysplasia
Hypospadias, Depressed nasal ridge, Wide nasal bridge, Midline defect of the nose, Shawl scrotum ORPHA:1520
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Wide nasal bridge ORPHA:163654
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Hypospadias, Wide nasal bridge ORPHA:98791
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Wide nasal bridge, Testicular torsion ORPHA:75496
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Prominent nasal bridge, Wide nasal bridge OMIM:619556
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flared nostrils, Anteverted nares, Wide nasal bridge OMIM:312170
Femoral-Facial Syndrome
Cryptorchidism, Short nose, Long penis, Maternal diabetes ORPHA:1988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose OMIM:614069
Intellectual Developmental Disorder, Autosomal Dominant 61
Wide nasal bridge, Prominent nasal bridge OMIM:618009
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Spina bifida, Anteverted nares, Short nose ORPHA:1327
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge ORPHA:2180
Intellectual Developmental Disorder, Autosomal Recessive 70
Wide nasal bridge OMIM:618402
Fraser Syndrome 1
Encephalocele, Hydrocephalus, Myelomeningocele, Facial cleft, Abnormal heart morphology OMIM:219000
Zechi-Ceide Syndrome
Wide nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:612916
3Mc Syndrome 3
Growth delay, Short stature, Facial cleft OMIM:248340
Ectodermal Dysplasia 13, Hair/Tooth Type
Depressed nasal bridge, Wide nasal bridge OMIM:617392
Micro Syndrome
Hypoplasia of penis, Anteverted nares, Cryptorchidism, Hypoplastic labia minora, Wide nasal bridg... ORPHA:2510
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge OMIM:618302
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Chromosome 2P16.1-P15 Deletion Syndrome
Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract infections, Wide nasal ... OMIM:612513
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
6Q25 Microdeletion Syndrome
Wide nasal bridge, External genital hypoplasia ORPHA:251056
Congenital Disorder Of Glycosylation, Type 2V
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Hydrocele testis, Low hanging columella OMIM:619493
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Wi... OMIM:300260
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Wide nasal bridge ORPHA:93267
Ruvalcaba Syndrome
Cryptorchidism, Short nose, Convex nasal ridge, Delayed puberty ORPHA:3121
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Hypoplasia of penis ORPHA:2547
Trisomy 8Q
Hypoplasia of penis, Cryptorchidism, Myelomeningocele, Wide nasal bridge, Displacement of the ure... ORPHA:1752
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Patent foramen ovale, Facial cleft, Short neck OMIM:263650
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Wide nasal bridge ORPHA:261295
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose OMIM:618961
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Toluene Embryopathy
Cryptorchidism, Short nose ORPHA:1920
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Anteverted nares, Hypospadias, Underdeveloped nasal alae, Cryptorchidism, Wide nas... OMIM:613026
20Q11.2 Microduplication Syndrome
Bifid scrotum, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micro... ORPHA:363659
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Spastic Paraplegia 52, Autosomal Recessive
Bulbous nose, Wide nasal bridge, Prominent nose OMIM:614067
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Depressed nasal bridge, Prominent nasal bridge, Short nose OMIM:618828
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Anteverted nares, Abnormal nasal morphology, Cryptorchidism, Wide nasal b... ORPHA:404440
Charlie M Syndrome
Wide nasal bridge ORPHA:1406
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Anteverted nares, Wide nasal bridge ORPHA:44
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Depressed nasal ridge, Short nose ORPHA:2831
Intellectual Developmental Disorder, Autosomal Dominant 43
Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Umbilical hernia, Low hanging columella OMIM:616977
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short nose, Low hangi... OMIM:615803
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Bulbous nose, Decreased response to growth hormone stimulation test, Sh... ORPHA:485405
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... ORPHA:363528
Frank-Ter Haar Syndrome
Umbilical hernia, Depressed nasal bridge, Wide nasal bridge ORPHA:137834
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose OMIM:614744
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Anteverted nares, Wide nasal bridge, Prominent nasolabial fold, Short columella, Umbilical hernia... OMIM:616266
Macrocephaly/Autism Syndrome
Hydrocele testis, Short nose, Depressed nasal bridge, Penile freckling OMIM:605309
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Anteverted nares, Wide nasal bridge, Underdeveloped nasal alae OMIM:616158
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares OMIM:619854
Even-Plus Syndrome
Bifid nasal tip, Short nose, Depressed nasal ridge OMIM:616854
Lig4 Syndrome
Hypoplasia of penis, Cryptorchidism, Wide nasal bridge, Type II diabetes mellitus, Hypothyroidism... ORPHA:99812
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Depressed nasal bridge, Wide nasal bridge OMIM:615760
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypospadias, Prominent nose, Cryptorchidism, Elevated circulating parathy... ORPHA:439822
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Brachycephaly, Flat occiput, Exencephaly ORPHA:2211
Jung Syndrome
Hypothyroidism, Depressed nasal bridge, Wide nasal bridge ORPHA:2321
Flat Face-Microstomia-Ear Anomaly Syndrome
Small scrotum, Underdeveloped nasal alae, Long nose, Cryptorchidism, Wide nasal bridge ORPHA:1968
Scarf Syndrome
Bifid scrotum, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Perineal hypospadias, H... OMIM:312830
Metaphyseal Acroscyphodysplasia
Depressed nasal ridge, Wide nasal bridge ORPHA:1240
Warburg Micro Syndrome 2
Small scrotum, Prominent nasal bridge, Cryptorchidism, Micropenis, Hypoplastic labia majora, Shor... OMIM:614225
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Cryptorchidism, Prominent nasal bridge, Wide nasal bridge OMIM:617452
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares ORPHA:228384
Benign Samaritan Congenital Myopathy
Wide nasal bridge ORPHA:324581
Dermotrichic Syndrome
Short nose, Depressed nasal bridge ORPHA:99688
8Q12 Microduplication Syndrome
Wide nasal bridge ORPHA:228399
Waardenburg-Shah Syndrome
Prominent nasal bridge, Wide nasal bridge, Underdeveloped nasal alae, Abnormality of the nose ORPHA:897
Edinburgh Malformation Syndrome
Short nose, Anteverted nares, Choanal atresia ORPHA:1895
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Wide nasal bridge OMIM:600906
Waardenburg Syndrome Type 1
Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, Short nose ORPHA:894
Suleiman-El-Hattab Syndrome
Cryptorchidism, Wide nasal bridge OMIM:618950
Alg2-Cdg
Wide nasal bridge ORPHA:79326
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge OMIM:614078
Hamel Cerebro-Palato-Cardiac Syndrome
Bulbous nose, Wide nasal bridge ORPHA:93946
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Anteverted nares, Decreased response to growth hormone stimulation test, ... OMIM:615866
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Wide nasal bridge, Gonadal dysgenesis, male ORPHA:2075
Lowry-Maclean Syndrome
Hypospadias, Choanal atresia, Bilateral cryptorchidism, Short nose, Short nasal bridge, Convex na... ORPHA:2409
Intellectual Developmental Disorder, Autosomal Recessive 13
Wide nasal bridge OMIM:613192
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge, Neonatal death, Umbilical hernia OMIM:614052
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Short nose, Broad columella, Low hangin... OMIM:619383
Martin-Probst Syndrome
Bifid scrotum, Cryptorchidism, Wide nasal bridge, Chordee, Hypoplastic nipples, Umbilical hernia,... OMIM:300519
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Congenital Disorder Of Glycosylation, Type Iu
Short nose OMIM:615042
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Micropenis, Short nose, Decreased testicular size OMIM:614222
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Wide nasal bridge, Hypoplastic nasal tip ORPHA:3304
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose OMIM:614105
Meier-Gorlin Syndrome 6
Anteverted nares, Depressed nasal bridge, Decreased response to growth hormone stimulation test, ... OMIM:616835
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Bulbous nose, Wide nasal bridge ORPHA:261304
Joubert Syndrome 28
Wide nasal bridge OMIM:617121
Cantu Syndrome
Umbilical hernia, Depressed nasal bridge, Anteverted nares, Wide nasal bridge OMIM:239850
Bainbridge-Ropers Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... OMIM:615485
Mulibrey Nanism
Wide nose, Depressed nasal bridge, Wide nasal bridge OMIM:253250
Arthrogryposis, Distal, Type 2A
Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Short nose, Spina bifida occulta OMIM:193700
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose ORPHA:284169
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Anteverted nares, Wide nasal bridge OMIM:618342
Steel Syndrome
Anteverted nares, Wide nasal bridge OMIM:615155
Brachydactyly-Preaxial Hallux Varus Syndrome
Wide nasal bridge ORPHA:1278
Craniosynostosis, Herrmann-Opitz Type
Short nose, Convex nasal ridge ORPHA:2145
Dandy-Walker Malformation With Postaxial Polydactyly
Depressed nasal bridge, Wide nasal bridge OMIM:220220
Wiedemann-Steiner Syndrome
Wide nose, Broad nasal tip, Cryptorchidism, Bulbous nose, Wide nasal bridge, Depressed nasal tip,... OMIM:605130
Temple-Baraitser Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thick nasal alae ORPHA:420561
Dislocation Of The Hip-Dysmorphism Syndrome
Depressed nasal ridge, Anteverted nares, Wide nasal bridge ORPHA:2412
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Bulbous nose, Wide nasal bridge, Prominent nose OMIM:606220
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose OMIM:300887
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae ORPHA:163961
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Long nose, Prominent nasal bridge, Wide nasal bridge, Hydrocele testis OMIM:137940
Harel-Yoon Syndrome
Short nose OMIM:617183
Radio-Tartaglia Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Precocious puberty, Bulbous nos... OMIM:619312
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide nasal bridge OMIM:614859
Down Syndrome
Depressed nasal bridge, Depressed nasal ridge, Decreased fertility, Type II diabetes mellitus, Um... ORPHA:870
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Prominent nasal bridge, Wide nasal bridge OMIM:618356
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Hypospadias, Wide nasal bridge, Shawl scrotum ORPHA:2575
Stickler Syndrome Type 1
Short nose ORPHA:90653
Distal Duplication 5Q
Hypospadias, Prominent nasal bridge, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Short... ORPHA:96097
Simosa Craniofacial Syndrome
Long nose, Depressed nasal tip, Wide nasal bridge, Underdeveloped nasal alae OMIM:182150
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Wide nasal bridge OMIM:309620
Deafness, X-Linked 7
Wide nasal bridge OMIM:301018
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Diabetes mellitus, Anteverted nares, Delayed puberty, Short nose, Hypothyroidism ORPHA:391408
Roifman-Chitayat Syndrome
Umbilical hernia, Depressed nasal bridge, Wide nasal bridge OMIM:613328
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Wide nasal bridge OMIM:218000
Man1B1-Cdg
Underdeveloped nasolabial fold, Wide nose, Wide nasal bridge, Prominent nose ORPHA:397941
Microphthalmia With Limb Anomalies
Unilateral cryptorchidism, Short nose, Flared nostrils, Depressed nasal bridge OMIM:206920
Codas Syndrome
Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Short nose ORPHA:1458
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Bifid scrotum, Hypospadias, Choanal atresia, Cryptorchidism, Penoscrotal transposi... OMIM:619148
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Micropenis, Umbilical hernia, Short nose OMIM:616331
Koolen-De Vries Syndrome
Hypospadias, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wid... ORPHA:96169
Liang-Wang Syndrome
Wide nasal bridge OMIM:618729
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Supernumerary ni... OMIM:618454
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Meningocele, Anteverted nares, Underdeveloped nasal alae ORPHA:2031
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Spina bifida occulta, Anteverted nares ORPHA:1185
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Smith-Magenis Syndrome
Depressed nasal bridge, Anteverted nares, Precocious puberty, Wide nasal bridge, Delayed puberty,... ORPHA:819
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Anteverted nares, Hypospadias, Wide nasal bridge, Micropenis, Short nose OMIM:616897
Craniometaphyseal Dysplasia
Depressed nasal bridge, Wide nasal bridge ORPHA:1522
Waardenburg Syndrome, Type 2A
Wide nasal bridge, Underdeveloped nasal alae OMIM:193510
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Prominent nose, Cryptorchidism, Flared nostrils, Wide nasal bridge, Micropenis, Co... OMIM:609625
Congenital Neuronal Ceroid Lipofuscinosis
Wide nasal bridge ORPHA:168486
Rhizomelic Limb Shortening With Dysmorphic Features
Wide nasal bridge OMIM:618821
Odontochondrodysplasia
Short nose, Depressed nasal bridge ORPHA:166272
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Wide nasal bridge, Mic... ORPHA:2282
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Wide nasal bridge, Congenital hypothyroidism OMIM:617930
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose, Reduced circulating grow... OMIM:616430
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge... OMIM:300000
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Wide nasal bridge ORPHA:89844
Oculoskeletodental Syndrome
Thick nasal alae, Depressed nasal bridge, Broad columella, Wide nasal bridge ORPHA:557003
8P23.1 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Short nose ORPHA:251071
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, M... ORPHA:280200
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Anteverted nares, Wide nasal bridge ORPHA:50812
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ... ORPHA:261330
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft ORPHA:1236
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Anteverted nares, Short nose OMIM:616420
Snijders Blok-Campeau Syndrome
Umbilical hernia, Wide nasal bridge, Prominent nose OMIM:618205
Congenital Disorder Of Glycosylation, Type Id
Bulbous nose, Depressed nasal bridge, Wide nasal bridge OMIM:601110
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
C Syndrome
Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose, Clitoral hypertrophy OMIM:211750
Tetrasomy 18P
Short nose ORPHA:3307
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Short nose OMIM:613320
Craniometaphyseal Dysplasia, Autosomal Recessive
Nasal congestion, Bony paranasal bossing, Abnormal nasopharynx morphology, Wide nasal bridge OMIM:218400
Goldberg-Shprintzen Megacolon Syndrome
Bifid scrotum, Hypospadias, Wide nasal bridge ORPHA:66629
Bartsocas-Papas Syndrome
Ambiguous genitalia, Short nose, Hypoplastic male external genitalia, Underdeveloped nasal alae ORPHA:1234
Al-Gazali-Bakalinova Syndrome
Depressed nasal bridge, Wide nasal bridge OMIM:607131
Al-Raqad Syndrome
Short nose OMIM:616459
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Supernumerary nipple, Cryptorchidism, Short nose, Hy... ORPHA:1812
Focal Facial Dermal Dysplasia Type Iii
Depressed nasal ridge, Wide nasal bridge ORPHA:1807
Waardenburg Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Myelomeningocele, Wide nasal bridge, Abnormali... ORPHA:3440
Pontocerebellar Hypoplasia, Type 7
Broad nasal tip, Cryptorchidism, Wide nasal bridge, Ambiguous genitalia, Micropenis OMIM:614969
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Diabetes insipidus, Wide nasal bridge OMIM:611087
Sweeney-Cox Syndrome
Choanal atresia, Broad nasal tip, Underdeveloped nasal alae, Bilateral cryptorchidism, Wide nasal... OMIM:617746
Spinocerebellar Ataxia 47
Wide nasal bridge OMIM:617931
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Micropenis, Wide nasal bridge OMIM:619435
Trisomy 12P
Short nose, Wide nasal bridge, Supernumerary nipple ORPHA:1699
Macs Syndrome
Umbilical hernia, Hypergonadotropic hypogonadism, Wide nasal bridge, Cryptorchidism OMIM:613075
Trisomy 20P
Hypospadias, Anteverted nares, Spina bifida, Cryptorchidism, Macroorchidism, Umbilical hernia, Sh... ORPHA:261318
Congenital Disorder Of Glycosylation, Type Il
Short nose, Depressed nasal bridge OMIM:608776
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Depressed nasal bridge, Short nose OMIM:618430
Oculoskeletodental Syndrome
Cryptorchidism, Wide nasal bridge, Hypothyroidism, Broad columella OMIM:618440
Axenfeld-Rieger Syndrome
Abnormality of the hypothalamus-pituitary axis, Depressed nasal bridge, Wide nasal bridge, Hyposp... ORPHA:782
Noonan Syndrome 13
Cryptorchidism, Anteverted nares, Wide nasal bridge OMIM:619087
Otopalatodigital Syndrome Type 1
Depressed nasal bridge, Wide nasal bridge ORPHA:90650
Gomez-Lopez-Hernandez Syndrome
Short nose, Anteverted nares, Decreased response to growth hormone stimulation test OMIM:601853
Zellweger Syndrome
Hypospadias, Depressed nasal bridge, Cryptorchidism, Primary adrenal insufficiency, Wide nasal br... ORPHA:912
Intellectual Developmental Disorder, Autosomal Dominant 65
Bulbous nose, Anteverted nares, Wide nasal bridge OMIM:619320
9P13 Microdeletion Syndrome
Anteverted nares, External genital hypoplasia, Precocious puberty, Wide nasal bridge, Umbilical h... ORPHA:324313
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Hypospadias, Anteverted nares, Cryptorchidism, Short nose OMIM:217980
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Wide nasal bridge OMIM:607906
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Anteverted nares, Cryptorchidism, Short nose, Abnormal testis morphology ORPHA:96147
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Wide nose, External genital hypoplasia, Prominent nasal bridge, Crypto... ORPHA:251028
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Anteverted nares, Decreased fertility OMIM:234050
Fibrochondrogenesis 2
Short nose, Anteverted nares OMIM:614524
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral crypt... OMIM:613457
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Depressed nasal bridge, Anteverted nare... OMIM:146510
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Long nose, Cryptorchidism, Short nose, Narrow nose OMIM:617602
Tetrasomy 12P
Short nose, Anteverted nares ORPHA:884
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Enlarged naris, Prominent nasal bridge, Anteverted nares, Wide nasal bridge ORPHA:371364
Intellectual Developmental Disorder, Autosomal Dominant 70
Low hanging columella, Wide nasal bridge, Broad nasal tip OMIM:620157
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Meningocele, Anencephaly, Wide nasal bridge, Spinal dysraphism ORPHA:1908
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Wide nasal bridge ORPHA:1865
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:163649
Cri-Du-Chat Syndrome
Cryptorchidism, Hypospadias, Wide nasal bridge OMIM:123450
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Wide nasal bridge OMIM:182290
Histidinuria Due To A Renal Tubular Defect
Wide nasal bridge OMIM:235830
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Central hypothyroidism,... OMIM:300998
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Underdeveloped nasal alae, Abnormal vagina m... ORPHA:2315
Peroxisome Biogenesis Disorder 2B
Anteverted nares, Wide nasal bridge, Adrenal insufficiency OMIM:202370
Oligomeganephronia
Branchial cyst, Hypertension, Secundum atrial septal defect ORPHA:2260
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Short nose, Short columella, Wide nasal bridge OMIM:613603
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Short nose OMIM:617061
Histidinuria-Renal Tubular Defect Syndrome
Wide nasal bridge ORPHA:2158
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Spina bifida occulta, Anteverted nares OMIM:617877
Distal Deletion 9P
Hypoplastic labia majora, Short nose, Hypospadias, Wide nasal bridge ORPHA:1642
Cog5-Cdg
Cryptorchidism, Micropenis, Wide nasal bridge, Prominent nose ORPHA:263487
16P13.11 Microdeletion Syndrome
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose ORPHA:261236
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Cryptorchidism, Micropenis, ... OMIM:619005
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Bicornuate uterus, Umbilical hernia, Short nose OMIM:222448
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Wide nose, Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, ... OMIM:257300
Schneckenbecken Dysplasia
Umbilical hernia, Short nose, Stillbirth OMIM:269250
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose ORPHA:544503
Zechi-Ceide Syndrome
Wide nose, Wide nasal bridge ORPHA:217017
Myoclonic-Astatic Epilepsy
Thick nasal alae, Anteverted nares, Wide nasal bridge ORPHA:1942
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Micropenis, Shawl scrotum,... OMIM:301040
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Joubert Syndrome 3
Anteverted nares, Wide nasal bridge OMIM:608629
Hengel-Maroofian-Schols Syndrome
Wide nasal bridge OMIM:619641
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Wide nasal bridge OMIM:167730
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Micropenis, Wide nasal bridge OMIM:615966
Ohdo Syndrome, X-Linked
Small scrotum, Depressed nasal bridge, Prominent nose, Cryptorchidism, Bulbous nose, Wide nasal b... OMIM:300895
3C Syndrome
Hypoplasia of penis, Depressed nasal bridge, Hypospadias, Adrenal hypoplasia, Wide nasal bridge, ... ORPHA:7
Peho Syndrome
Short nose OMIM:260565
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose OMIM:615539
Lessel-Kreienkamp Syndrome
Wide nasal bridge OMIM:619149
Chromosome 5P13 Duplication Syndrome