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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
Precocious puberty, Wide nasal bridge, Cholelithiasis, Umbilical hernia, Type II diabetes mellitu... 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
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Ventricular septal defect, Bilateral cleft palate, Bilater... OMIM:601357
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Anosmia, Decreased serum testosterone concentration, Decreased testicular size, Hy... OMIM:308700
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic... OMIM:308750
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Wide nasal bridge, Cleft ala nasi, Convex nasal ridge, Underdeveloped nasal alae ORPHA:2007
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Anteverted nares OMIM:601163
Unilateral Ocular Duplication
Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Anophthalmia Plus Syndrome
Tessier cleft, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper lip, Cleft pa... ORPHA:1104
Beemer Lethal Malformation Syndrome
Wide nasal bridge, Ambiguous genitalia OMIM:209970
Trigonocephaly 2
Wide nasal bridge, Depressed nasal bridge OMIM:614485
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Hypospadias, Short nose ORPHA:1355
Aarskog-Scott Syndrome
Wide nasal bridge, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decr... OMIM:305400
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
3Q13 Microdeletion Syndrome
Wide nasal bridge, Hypoplasia of penis, Cryptorchidism, Anteverted nares ORPHA:1621
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose, Wide nose OMIM:125700
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Wide nasal bridge, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
Wide nasal bridge, Broad nasal tip OMIM:600093
Fg Syndrome 4
Wide nasal bridge OMIM:300422
17Q21.31 Microduplication Syndrome
Anteverted nares, Delayed puberty, Short nose ORPHA:217340
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Ethmoidal encephalocele, Cleft palate OMIM:607597
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Rhiny
Anteverted nares, Short nose OMIM:180360
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Short stature, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Prominent nasal tip, Cryptorchidism, Short... ORPHA:502430
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Thick nasal alae, Broad nasal tip, Wide nasal bridge OMIM:618147
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Non-Distal Duplication 10Q
Convex nasal ridge, Depressed nasal bridge, Cryptorchidism, Short nose ORPHA:1695
Mosaic Trisomy 9
Tessier cleft, Webbed neck, Abnormal heart valve morphology, Intrauterine growth retardation, End... ORPHA:99776
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Cryptorchidism, Neonatal death, Bicornuate uterus OMIM:615524
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Wide nasal bridge, Depressed nasal bridge OMIM:609528
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Depressed nasal bridge, Hypogonadism, Short nasal septum, Short nose OMIM:302950
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Cryptorchidism, Neonatal death OMIM:618393
Burn-Mckeown Syndrome
Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose ORPHA:1200
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly, Occipital encephalocele OMIM:614416
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate OMIM:600251
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Acrofacial Dysostosis, Catania Type
Tessier cleft, Webbed neck, Intrauterine growth retardation, Short stature, Spina bifida occulta ORPHA:1786
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Abnormal heart morphology, Cleft palate OMIM:239800
49,Xxxyy Syndrome
Wide nasal bridge, Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory... ORPHA:261534
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Wide nasal bridge, Anteverted nares OMIM:619311
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Wide nasal bridge ORPHA:3207
Lamb-Shaffer Syndrome
Wide nasal bridge, Bulbous nose, Depressed nasal bridge OMIM:616803
Intellectual Developmental Disorder, Autosomal Recessive 79
Wide nasal bridge, Broad nasal tip, Oligomenorrhea OMIM:620393
Cofs Syndrome
Hypogonadism, Abnormal nasal morphology, Wide nasal bridge ORPHA:1466
Mosaic Trisomy 14
Wide nasal bridge, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Hypoplasia of penis,... ORPHA:1703
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Encephalocele, Convex nasal ridge, Short nose OMIM:200130
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Anencephaly, Non-midline cleft o... ORPHA:2476
Alazami Syndrome
Wide nasal bridge, Depressed nasal bridge, Retractile testis, Wide nose OMIM:615071
Diprosopus
Abnormal cardiac septum morphology, Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Joubert Syndrome 15
Exencephaly OMIM:614464
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Mild short stature ORPHA:952
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
Wide nasal bridge OMIM:619844
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Intellectual Disability, Wolff Type
Wide nasal bridge, Bulbous nose, Hypospadias, Cryptorchidism ORPHA:3080
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Short nose OMIM:155050
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Choana... OMIM:122860
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Potocki-Shaffer Syndrome
Micropenis, Underdeveloped nasal alae, Short nose, Wide nasal bridge OMIM:601224
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Cleft palate, Ectopia cordis OMIM:217100
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:178377
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Supernumerary Nostril
Tessier cleft ORPHA:141096
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, S... OMIM:615583
Oculomaxillofacial Dysostosis
Short stature, Cleft palate, Tessier cleft ORPHA:1794
Craniodiaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge ORPHA:1513
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Delayed puberty ORPHA:1825
Chromosome 15Q26-Qter Deletion Syndrome
Micropenis, Hypospadias, Cryptorchidism, Wide nasal bridge OMIM:612626
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate OMIM:613456
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal... OMIM:616602
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Umbilical hernia, Bilateral cryptorchidism, Prominent nasal bridge, Short nose OMIM:613544
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Peroxisome Biogenesis Disorder 6A (Zellweger)
Wide nasal bridge, Neonatal death OMIM:614870
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Wide nasal bridge, Broad nasal tip ORPHA:73273
Acromelic Frontonasal Dysostosis
Midline facial cleft, Encephalocele, Cleft palate, Submucous cleft soft palate OMIM:603671
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Hypospadias, Short nose OMIM:300581
Gómez-López-Hernández Syndrome
Brachycephaly, Hydrocephalus, Turricephaly ORPHA:1532
Lissencephaly 4
Wide nasal bridge OMIM:614019
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Hypoplastic female external genitalia, Anteverted nares, Cryptorchidism, Short... OMIM:618577
Intellectual Developmental Disorder, X-Linked 104
Wide nasal bridge, Bifid nasal tip OMIM:300983
Perlman Syndrome
Wide nasal bridge, Abnormal pancreas morphology, Hyperinsulinemia, Anteverted nares, Cryptorchidi... ORPHA:2849
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Hydrocephalus ORPHA:1647
17P13.3 Microduplication Syndrome
Hypoplasia of penis, Short nose, Wide nose ORPHA:217385
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypospadias, Cryptorchidism, Short nose OMIM:616910
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Umbilical hernia, Anteverted nares, Short columella, Cryptorchidism, Micr... ORPHA:171839
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst, Submucous cleft hard palate OMIM:609166
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1832
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose ORPHA:438178
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Cryptorchidism, Ad... OMIM:614732
Megalencephaly
Wide nasal bridge, Macroorchidism, Long penis ORPHA:2477
Orofaciodigital Syndrome Xi
Wide nasal bridge, Bulbous nose OMIM:612913
Difference Of Sex Development-Intellectual Disability Syndrome
Small scrotum, Hypogonadism, Spina bifida occulta, Hypoplasia of penis, Short nose ORPHA:2983
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose OMIM:613670
Ring Chromosome 6 Syndrome
Wide nasal bridge ORPHA:1448
Autism Spectrum Disorder Due To Auts2 Deficiency
Wide nasal bridge, Umbilical hernia, Anteverted nares, Cryptorchidism, Prominent nasal tip ORPHA:352490
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Pontocerebellar Hypoplasia Type 10
Wide nasal bridge, Underdeveloped nasal alae ORPHA:411493
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilateral cryptorchidism, Ant... OMIM:619859
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis, ... ORPHA:93328
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Bulbous nose, Anteverted nares, Prominent nasal bridge, Cryptorc... ORPHA:3063
Intellectual Developmental Disorder, Autosomal Recessive 74
Wide nasal bridge, Prominent nose OMIM:617169
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Pulmonic stenosis ORPHA:1131
Velo-Facial-Skeletal Syndrome
Wide nasal bridge ORPHA:3424
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Wide nasal bridge, Depressed nasal tip, Cryptorchidism, Anterior hypopituit... ORPHA:2863
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Underdeveloped nasal alae, Abnormal nasal bo... ORPHA:521308
Pierpont Syndrome
Broad nasal tip, Cryptorchidism, Micropenis, Short nose, Wide nose OMIM:602342
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Decreased testicular size, Prominent nose, Prominent nasal bridge, Cryptorchid... OMIM:300978
Distal Duplication 18Q
Choanal atresia, Abnormal female external genitalia morphology, Anteverted nares, Prominent nasal... ORPHA:1716
Ring Chromosome 1 Syndrome
Wide nasal bridge, Anteverted nares ORPHA:1437
Filippi Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Ambiguous genitalia, Low hanging co... OMIM:272440
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal nostril morphology, Hypoplasia of... ORPHA:1295
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... ORPHA:1248
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Short nose ORPHA:261120
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Anteverted nares, Prominent nasal tip OMIM:615834
Warburg Micro Syndrome 1
Wide nasal bridge, External genital hypoplasia, Cryptorchidism, Anteverted nares OMIM:600118
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Freeman-Sheldon Syndrome
Wide nasal bridge, Depressed nasal ridge, Cryptorchidism, Underdeveloped nasal alae ORPHA:2053
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Short nose ORPHA:1906
Chung-Jansen Syndrome
Anteverted nares, Cryptorchidism, Short nose OMIM:617991
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Short nose ORPHA:2598
Chromosome 1P35 Deletion Syndrome
Wide nasal bridge, Congenital hypothyroidism, Cryptorchidism OMIM:617930
Kahrizi Syndrome
Wide nasal bridge, Bulbous nose OMIM:612713
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Wide nasal bridge ORPHA:166024
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Short nose ORPHA:1529
Meckel Syndrome, Type 8
Depressed nasal ridge, Occipital encephalocele, Encephalocele, Ambiguous genitalia, Short nose OMIM:613885
Acrocephalopolydactyly
Depressed nasal ridge, Short nose ORPHA:221054
Peroxisomal Acyl-Coa Oxidase Deficiency
Wide nasal bridge, Depressed nasal bridge OMIM:264470
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Wide nasal bridge, Underdeveloped nasal alae, Umbilical hernia ORPHA:1516
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Cryptorchidism, Shawl scrotum, Hypoplasia of penis ORPHA:2256
Intellectual Developmental Disorder, Autosomal Dominant 23
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Hypospadias OMIM:615761
Mulibrey Nanism
Wide nasal bridge ORPHA:2576
Fetal Akinesia Deformation Sequence 2
Wide nasal bridge, Cryptorchidism OMIM:618388
Trigonocephaly 1
Wide nasal bridge, Long penis, Short nose OMIM:190440
Lissencephaly, X-Linked, 2
Wide nasal bridge, Decreased testicular size, Prominent nasal bridge, Ambiguous genitalia, Microp... OMIM:300215
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Short nose OMIM:300143
Monosomy 5P
Wide nasal bridge ORPHA:281
Spondylometaphyseal Dysplasia, X-Linked
Wide nasal bridge, Depressed nasal bridge, Anteverted nares OMIM:313420
Cerebrooculonasal Syndrome
Tessier cleft ORPHA:66625
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Wide nasal bridge, Cryptorchidism OMIM:619595
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Congenital hypothyroidism, Anteverted nares, Cryptorchidism, Hypospadias,... OMIM:614613
Zimmermann-Laband Syndrome 3
Wide nasal bridge, Broad nasal tip OMIM:618658
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Prominent nasal bridge, Cryptorchidism, Short nose ORPHA:401935
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Wide nasal bridge, Prominent nose ORPHA:137831
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Narrow nasal bridge, Short nose ORPHA:1514
Omodysplasia 2
Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Uterus didelphys, Cryptorchidism, Dys... OMIM:164745
Peho-Like Syndrome
Short nose OMIM:617507
Brunet-Wagner Neurodevelopmental Syndrome
Wide nasal bridge OMIM:619690
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Hydrocephalus, Ventricular septal defect ORPHA:268249
Intellectual Developmental Disorder, Autosomal Dominant 51
Wide nasal base, Wide nasal bridge, Cryptorchidism, Unilateral cryptorchidism, Low hanging columella OMIM:617788
Cardiocranial Syndrome, Pfeiffer Type
Wide nasal bridge, Umbilical hernia, Cryptorchidism, Micropenis, Hypospadias ORPHA:2872
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Cryptorchidism, Short nose OMIM:615419
Gand Syndrome
Wide nasal bridge, Broad nasal tip OMIM:615074
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Frontonasal Dysplasia 1
Wide nasal bridge, Cranium bifidum occultum, Bifid nasal tip, Broad nasal tip, Anterior basal enc... OMIM:136760
Chromosome 3Pter-P25 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Anteverted nares, Promi... OMIM:613792
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Thyroid carcinoma, Hurthle cell thyroid adenoma, Short ... ORPHA:210548
Distal Deletion 10P
Wide nasal bridge, Cryptorchidism, Polycystic ovaries, Convex nasal ridge, Hypoplasia of penis ORPHA:1580
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose ORPHA:2370
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Depressed nasal bridge, Myelomeningocele, Anteverted nares, Short nose ORPHA:1914
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge ORPHA:3366
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Intellectual Developmental Disorder, Autosomal Recessive 45
Wide nasal bridge, Bulbous nose, Anteverted nares OMIM:615979
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Low hanging columella, Short nose OMIM:617752
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Wide nasal bridge, Underdeveloped nasal alae OMIM:248910
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Micropenis, Cryptorchidism, Wide nasal bridge OMIM:614684
Ohdo Syndrome
Wide nasal bridge, Small scrotum, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short... OMIM:249620
Treacher-Collins Syndrome
Tessier cleft, Branchial fistula, Encephalocele, Patent ductus arteriosus, Cleft palate ORPHA:861
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Neonatal death, Short nose OMIM:610015
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose ORPHA:969
Donnai-Barrow Syndrome
Depressed nasal bridge, Abnormality of the uterus, Umbilical hernia, Bicornuate uterus, Short nose ORPHA:2143
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Bicoronal synostosis, Brachycephaly, Spina bifida occulta, Flat occiput OMIM:618736
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Occipital encephalocele, Micropenis, Anterior hypopituitarism, Short nose OMIM:241800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Bulbous nose, Anteverted nares, Wide nasal bridge OMIM:300958
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Cryptorchidism, Underdeveloped nasal alae, Wide nose ORPHA:1252
X-Linked Intellectual Disability, Cantagrel Type
Shawl scrotum, Short nose ORPHA:85277
Joubert Syndrome 37
Wide nasal bridge, Decreased testicular size, Anteverted nares, Cryptorchidism, Micropenis, Wide ... OMIM:619185
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Pterygium Colli, Isolated
Short nose OMIM:177990
Miller-Dieker Syndrome
Anteverted nares, Short nose ORPHA:531
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Boomerang Dysplasia
Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Neonatal death OMIM:112310
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
14Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypothyroidism ORPHA:261229
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Hypospadias, Short nose OMIM:619736
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Tetralogy of Fallot, Cleft palate ORPHA:306542
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Short nose OMIM:618506
Spastic Paraplegia 47, Autosomal Recessive
Wide nasal bridge, Bulbous nose OMIM:614066
Filippi Syndrome
Wide nasal bridge, Broad columella, Underdeveloped nasal alae, Supernumerary nipple, Prominent na... ORPHA:3255
Autosomal Dominant Spondylocostal Dysostosis
Wide nasal bridge, Spina bifida occulta, Anteverted nares, Abnormal morphology of female internal... ORPHA:1797
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst, Cleft palate ORPHA:50815
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nasal bridge, Wide nose OMIM:615032
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Small scrotum, Underdeveloped nasal alae, Prominent nasal bridge, Cryptorchidism, Hypoplasia of p... ORPHA:2083
Glycosylphosphatidylinositol Biosynthesis Defect 11
Wide nasal bridge, Umbilical hernia OMIM:616025
Frontonasal Dysplasia 2
Intrauterine growth retardation, Tessier number 13 facial cleft, Encephalocele OMIM:613451
Beemer-Ertbruggen Syndrome
Wide nasal bridge, Bulbous nose, Ambiguous genitalia, Cryptorchidism ORPHA:1237
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Hypopituitarism, Decreased thyroid-stimulating hormone level, Anteverted ... OMIM:613038
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Bulbous nose, Cryptorchidism, Short ... ORPHA:369891
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Short nose OMIM:611936
Pentasomy X
Wide nasal bridge, Delayed puberty ORPHA:11
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Cryptorchidism, Short nose ORPHA:2701
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose OMIM:137550
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Hypogonadism, Cryptorchidism, Abnormal nostril morphology ORPHA:178303
Holoprosencephaly 1
Tessier cleft, Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Single ventricle, Sho... OMIM:236100
Achondrogenesis
Anteverted nares, Short nose, Umbilical hernia ORPHA:932
Band Heterotopia
Plagiocephaly, Hydrocephalus OMIM:600348
Lig4 Syndrome
Wide nasal bridge, Prominent nose, Type II diabetes mellitus, Cryptorchidism, Amenorrhea, Hypothy... OMIM:606593
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly ORPHA:2528
Diamond-Blackfan Anemia 8
Wide nasal bridge, Short nose OMIM:612563
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Fetal Trimethadione Syndrome
Depressed nasal bridge, Ambiguous genitalia, Hypospadias, Short nose ORPHA:1913
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Umbilical hernia ORPHA:380
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Wide nasal bridge, Anteverted nares, Neonatal death, Micropenis, Hydrocele testis OMIM:618810
Orofaciodigital Syndrome Xv
Wide nasal bridge, Anteverted nares OMIM:617127
German Syndrome
Wide nasal bridge, Depressed nasal bridge, Ambiguous genitalia, Cryptorchidism ORPHA:2077
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Bulbous nose, Prominent nasal bridge, Short nose OMIM:613870
Acrodysostosis
Irregular menstruation, Depressed nasal ridge, Wide nasal bridge, Depressed nasal bridge, Abnorma... ORPHA:950
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Anteverted nares, Short nose OMIM:619356
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Wide nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae ORPHA:77300
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Cranios... OMIM:604757
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Wide nasal bridge, Congenital hypothyroidism ORPHA:352530
Rafiq Syndrome
Wide nasal bridge, Bulbous nose, Prominent nose, Underdeveloped nasolabial fold, Wide nose OMIM:614202
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Prominent nose, Anteverted nares, Cryptorchidism, Hypo... OMIM:618316
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Dolichocephaly, Brachycephaly, Plagiocephaly OMIM:615433
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Woods Syndrome
Wide nasal bridge, Low hanging columella, Supernumerary nipple OMIM:615236
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Aminoacylase 1 Deficiency
Wide nasal bridge OMIM:609924
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Short nose OMIM:613604
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Wide nasal bridge, Cryptorchidism, Shawl scrotum, Umbilical hernia ORPHA:1778
3Mc Syndrome 3
Short stature, Growth delay, Cleft palate, Tessier cleft OMIM:248340
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... ORPHA:453499
Aarskog-Scott Syndrome
Wide nasal bridge, Umbilical hernia, Anteverted nares, Cryptorchidism, Shawl scrotum ORPHA:915
Chromosome 16Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypospadias, Cryptorchidism OMIM:614541
Ceroid Lipofuscinosis, Neuronal, 10
Wide nasal bridge, Neonatal death OMIM:610127
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Bulbous nose, Short nose OMIM:620292
Congenital Muscular Dystrophy, Fukuyama Type
Dolichocephaly, Brachycephaly, Plagiocephaly, Hydrocephalus ORPHA:272
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Occipital encephalocele, Cryptorchidism, Neonatal death OMIM:224410
Achondrogenesis Type 1B
Anteverted nares, Short nose, Umbilical hernia ORPHA:93298
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Hypothyroidism, Diabetes mellitus,... ORPHA:391372
Periventricular Nodular Heterotopia 7
Anteverted nares, Cryptorchidism, Short nose OMIM:617201
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose ORPHA:1495
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Short nose OMIM:613443
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Short nose OMIM:300558
Craniofrontonasal Dysplasia
Wide nasal bridge, Depressed nasal ridge, Midline defect of the nose, Shawl scrotum, Hypospadias ORPHA:1520
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Short nose OMIM:615716
Intellectual Developmental Disorder, Autosomal Recessive 5
Wide nasal bridge, Prominent nose, Prominent nasal bridge, Underdeveloped nasal alae OMIM:611091
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis, Short nose OMIM:266810
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Broad nasal tip, Prominent nasolabial fold, Convex nasal ridge OMIM:619451
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Wide nasal bridge OMIM:616521
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Shawl scrotum, Bicornuate uterus, Hy... OMIM:145420
Achondrogenesis Type 1A
Anteverted nares, Short nose, Umbilical hernia ORPHA:93299
9q subtelomeric deletion syndrome
Anteverted nares, Short nose DECIPHER:52
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Short nose OMIM:618774
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Brachycephaly, Hydrocephalus, Abnormal shape of the occiput, Frontal bossing OMIM:218350
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Wide nasal bridge, Cryptorchidism OMIM:620316
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short nose ORPHA:93329
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Narrow nasal bridge, Cryptorchidis... OMIM:620073
Trigonocephaly With Short Stature And Developmental Delay
Wide nasal bridge, Convex nasal ridge OMIM:314320
Fraser Syndrome 1
Tessier cleft, Myelomeningocele, Abnormal heart morphology, Encephalocele, Hydrocephalus, Cleft p... OMIM:219000
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Hypospadias, Cryptorchidism, Umbilical hernia OMIM:175700
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Low insertion of columella, Long nose... OMIM:619995
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Wide nasal bridge, Depressed nasal bridge, Female infertility, Amenorrhea... OMIM:110100
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Wide nasal bridge, Prominent nasal bridge OMIM:619556
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Ambiguous genitalia ORPHA:93267
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Wide nasal bridge, Convex nasal ridge ORPHA:3369
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Prominent nasal bridge OMIM:617927
Bartsocas-Papas Syndrome 1
Tessier cleft, Intrauterine growth retardation, Patent foramen ovale, Short neck, Cleft palate OMIM:263650
6Q25 Microdeletion Syndrome
Wide nasal bridge, External genital hypoplasia ORPHA:251056
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Wide nasal bridge, Prominent nasal bridge, Cryptorchidism, Low hanging columella, Hypospadias OMIM:618659
Intellectual Developmental Disorder, Autosomal Recessive 70
Wide nasal bridge OMIM:618402
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Short nose ORPHA:2547
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Smith-Kingsmore Syndrome
Depressed nasal bridge, Cryptorchidism, Short nose, Umbilical hernia OMIM:616638
Zechi-Ceide Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Wide nose OMIM:612916
Intellectual Developmental Disorder, Autosomal Dominant 61
Wide nasal bridge, Prominent nasal bridge OMIM:618009
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose OMIM:614069
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Anteverted nares, Spina bifida, Short nose ORPHA:1327
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Anteverted nares, Cryptorchidism, Narrow nasal ridg... OMIM:619293
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flared nostrils, Anteverted nares, Wide nasal bridge OMIM:312170
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Prominent nose, Anteverted nares ORPHA:2180
Achard Syndrome
Brachycephaly, Broad skull OMIM:100700
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Baraitser-Winter Syndrome 1
Wide nasal bridge, Anteverted nares, Cryptorchidism, Micropenis, Short nose OMIM:243310
Ectodermal Dysplasia 13, Hair/Tooth Type
Wide nasal bridge, Depressed nasal bridge OMIM:617392
Chromosome 18P Deletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Gonadal dysgenesis, Decreased testicular size, Antevert... OMIM:146390
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge OMIM:618302
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Cryptorchidism OMIM:618067
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Wide nasal bridge, Bifid scrotum, Umbilical hernia, Cryptorchidism, Hypothyroidism, Hypoplasia of... ORPHA:85321
Spastic Paraplegia 52, Autosomal Recessive
Wide nasal bridge, Bulbous nose, Prominent nose OMIM:614067
Chromosome 2P16.1-P15 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Recurrent upper respiratory tract infections, Hypogona... OMIM:612513
Neonatal Adrenoleukodystrophy
Wide nasal bridge, Anteverted nares, Primary adrenal insufficiency ORPHA:44
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Median cleft palate, Ve... ORPHA:2162
Non-Distal Duplication 13Q
Cryptorchidism, Short nose ORPHA:1702
Trisomy 18P
Wide nasal bridge, Underdeveloped nasal alae, Bilateral cryptorchidism ORPHA:1715
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge ORPHA:261295
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Short nose OMIM:618961
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Short nose OMIM:618828
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur... ORPHA:90308
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Anteverted nares, Short nose OMIM:618437
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Wide nasal bridge, Small scrotum, Cryptorchidism ORPHA:1970
Jung Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypothyroidism ORPHA:2321
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Brachycephaly, Encephalocele, Exencephaly, Flat occiput ORPHA:2211
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose OMIM:614744
Intellectual Developmental Disorder, Autosomal Dominant 43
Wide nasal bridge, Umbilical hernia, Anteverted nares, Prominent nasal bridge, Low hanging columella OMIM:616977
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Underdeveloped nasal alae, Decreased response to growth hormone stimulati... OMIM:615866
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia ORPHA:137834
Even-Plus Syndrome
Bifid nasal tip, Depressed nasal ridge, Short nose OMIM:616854
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina ORPHA:52022
Charlie M Syndrome
Wide nasal bridge ORPHA:1406
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Short nose, Wide nose ORPHA:2831
Fetal Hydantoin Syndrome
Depressed nasal ridge, Cryptorchidism, Bifid scrotum, Short nose ORPHA:1912
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Wide nasal bridge, Anteverted nares, Underdeveloped nasal alae OMIM:616158
Benign Samaritan Congenital Myopathy
Wide nasal bridge ORPHA:324581
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Wide nasal bridge, Depressed nasal bridge OMIM:615760
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose ORPHA:228384
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Wide nasal bridge, Enlarged naris, Umbilical hernia, Anteverted nares, Short columella, Prominent... OMIM:616266
8Q12 Microduplication Syndrome
Wide nasal bridge ORPHA:228399
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, Cryptorchidism, Short nose ORPHA:496790
Martin-Probst Syndrome
Wide nasal bridge, Bifid scrotum, Umbilical hernia, Cryptorchidism, Hypoplastic nipples, Chordee,... OMIM:300519
Micro Syndrome
Wide nasal bridge, Anteverted nares, Cryptorchidism, Delayed puberty, Short nose, Hypoplasia of p... ORPHA:2510
Dermotrichic Syndrome
Depressed nasal bridge, Short nose ORPHA:99688
Femoral-Facial Syndrome
Long penis, Maternal diabetes, Cryptorchidism, Short nose ORPHA:1988
Noonan Syndrome 6
Wide nasal bridge, Depressed nasal bridge, Cryptorchidism OMIM:613224
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Cryptorchidism ORPHA:163654
Waardenburg-Shah Syndrome
Wide nasal bridge, Prominent nasal bridge, Abnormality of the nose, Underdeveloped nasal alae ORPHA:897
Edinburgh Malformation Syndrome
Choanal atresia, Anteverted nares, Short nose ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Frontal bossing, Hydrocephalus, Turricephaly ORPHA:93262
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing ORPHA:314575
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Cryptorchidi... OMIM:300260
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose ORPHA:93946
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
Wide nasal bridge OMIM:600906
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Intrauterine growth retardation, Ventricular septal defe... ORPHA:261330
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Hypospadias, Shawl scrotum, Wide nasal bridge ORPHA:2575
Alg2-Cdg
Wide nasal bridge ORPHA:79326
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Wide nasal bridge, Hypospadias, Cryptorchidism ORPHA:98791
Waardenburg Syndrome Type 1
Wide nasal bridge, Underdeveloped nasal alae, Spina bifida, Meningocele, Short nose ORPHA:894
Crouzon Syndrome
Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Hydrocephalus, Frontal bossing ORPHA:207
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypospadias, Cryptorchidism, Umbilical hernia OMIM:601499
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Branchiootic Syndrome
Branchial fistula, Cleft palate ORPHA:52429
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Wide nasal bridge, Testicular torsion, Cryptorchidism ORPHA:75496
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose ORPHA:2835
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Narrow nasal bridge, Anteverted nares, Low hanging columella,... OMIM:619383
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Dolichocephaly, Brachycephaly, Plagiocephaly, Prominent occiput OMIM:618672
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Prominent nose, Cr... ORPHA:363528
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Short nose OMIM:614078
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Bifid scrotum, Anteverted nares, Cryptorchidism, Micro... ORPHA:363659
Steel Syndrome
Wide nasal bridge, Anteverted nares OMIM:615155
Intellectual Developmental Disorder, Autosomal Recessive 13
Wide nasal bridge OMIM:613192
Microform Holoprosencephaly
Choanal atresia, Panhypopituitarism, Narrow nasal bridge, Anteverted nares, Midnasal stenosis, Am... ORPHA:280200
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly OMIM:619972
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Bifid scrotum, Underdeveloped nasal alae, Anteverted nares, Cryptorchidism, Hy... OMIM:613026
Congenital Disorder Of Glycosylation, Type Iu
Short nose OMIM:615042
Congenital Disorder Of Glycosylation, Type 2V
Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Low hanging columella, Hydrocele testis OMIM:619493
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Nasal congestion, Bony paranasal bossing, Abnormal naso... OMIM:218400
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Bulbous nose ORPHA:261304
Cantu Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Umbilical hernia OMIM:239850
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Abnormal nasal morph... ORPHA:404440
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Ruvalcaba Syndrome
Convex nasal ridge, Delayed puberty, Cryptorchidism, Short nose ORPHA:3121
Bardet-Biedl Syndrome 8
Brachycephaly OMIM:615985
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Joubert Syndrome 28
Wide nasal bridge OMIM:617121
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Wide nasal bridge, Anteverted nares OMIM:618342
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Short nose, Bulbous nose ORPHA:284169
Radio-Tartaglia Syndrome
Precocious puberty, Depressed nasal bridge, Wide nasal bridge, Bulbous nose, Anteverted nares, Pr... OMIM:619312
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Wide nose OMIM:253250
Trisomy 8Q
Wide nasal bridge, Myelomeningocele, Cryptorchidism, Displacement of the urethral meatus, Hypopla... ORPHA:1752
Brachydactyly-Preaxial Hallux Varus Syndrome
Wide nasal bridge ORPHA:1278
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Elevated circulating parathyroid hormone level, Prominent nose, Cryptorch... ORPHA:439822
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Calvarial skull defect, Encephalocele, Brachycephaly, Frontal bossing ORPHA:228390
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Anteverted nares ORPHA:2412
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bulbous nose, Short nose, Bilateral crypto... ORPHA:485405
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Bulbous nose, Anteverted nares, Short nose OMIM:614105
Bor Syndrome
Branchial cyst, Cleft palate ORPHA:107
Temple-Baraitser Syndrome
Wide nasal bridge, Depressed nasal bridge, Thick nasal alae, Anteverted nares, Wide nose ORPHA:420561
Muenke Syndrome
Coronal craniosynostosis, Brachycephaly, Plagiocephaly, Hydrocephalus ORPHA:53271
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Anteverted nares, Hypothyroidism, Delayed puberty, Diabetes mellitus, Short nose, Wide nose ORPHA:391408
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Wide nasal bridge, Bulbous nose, Prominent nose OMIM:606220
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Anteverted nares, Micropenis, Hypospadias, Short nose OMIM:616897
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Cryptorchidism, Low hanging columella... OMIM:615803
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose ORPHA:2145
Bartsocas-Papas Syndrome
Ambiguous genitalia, Hypoplastic male external genitalia, Underdeveloped nasal alae, Short nose ORPHA:1234
Kleefstra Syndrome 2
Plagiocephaly OMIM:617768
Smith-Magenis Syndrome
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Hypothyroidism, ... ORPHA:819
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose OMIM:300887
Scarf Syndrome
Wide nasal bridge, Bifid scrotum, Umbilical hernia, Prominent nasal bridge, Cryptorchidism, Hypop... OMIM:312830
Spondyloepiphyseal Dysplasia, Nishimura Type
Elevated circulating parathyroid hormone level, Short nose OMIM:618618
Dandy-Walker Malformation With Postaxial Polydactyly
Wide nasal bridge, Depressed nasal bridge OMIM:220220
Harel-Yoon Syndrome
Short nose OMIM:617183
Goldberg-Shprintzen Megacolon Syndrome
Wide nasal bridge, Hypospadias, Bifid scrotum ORPHA:66629
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Penile freckling, Hydrocele testis, Short nose OMIM:605309
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Lig4 Syndrome
Wide nasal bridge, Type II diabetes mellitus, Cryptorchidism, Hypothyroidism, Convex nasal ridge,... ORPHA:99812
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide nasal bridge OMIM:614859
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Frontal bossing OMIM:618330
Simosa Craniofacial Syndrome
Wide nasal bridge, Long nose, Depressed nasal tip, Underdeveloped nasal alae OMIM:182150
Bainbridge-Ropers Syndrome
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Underdeveloped na... OMIM:615485
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, Prominent nasal bridge OMIM:618356
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Wide nasal bridge, Prominent nasal bridge, Cryptorchidism OMIM:617452
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypospadias, Abnormality of the hypothalamus-pituitary... ORPHA:782
Snijders Blok-Campeau Syndrome
Wide nasal bridge, Prominent nose, Umbilical hernia OMIM:618205
Rhizomelic Limb Shortening With Dysmorphic Features
Wide nasal bridge OMIM:618821
Deafness, X-Linked 7
Wide nasal bridge OMIM:301018
Warburg Micro Syndrome 2
Small scrotum, Prominent nasal bridge, Cryptorchidism, Hypoplastic labia majora, Micropenis, Shor... OMIM:614225
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Reduced circulating growth hormone c... OMIM:616430
Codas Syndrome
Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Short nose ORPHA:1458
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly ORPHA:320385
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Short nose OMIM:218000
Stickler Syndrome Type 1
Short nose ORPHA:90653
Flat Face-Microstomia-Ear Anomaly Syndrome
Wide nasal bridge, Small scrotum, Underdeveloped nasal alae, Cryptorchidism, Long nose ORPHA:1968
Roifman-Chitayat Syndrome
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia OMIM:613328
Man1B1-Cdg
Wide nasal bridge, Prominent nose, Underdeveloped nasolabial fold, Wide nose ORPHA:397941
Odontochondrodysplasia
Depressed nasal bridge, Short nose ORPHA:166272
Liang-Wang Syndrome
Wide nasal bridge OMIM:618729
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Waardenburg Syndrome
Wide nasal bridge, Abnormal vagina morphology, Underdeveloped nasal alae, Abnormality of the uter... ORPHA:3440
Suleiman-El-Hattab Syndrome
Wide nasal bridge, Cryptorchidism OMIM:618950
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Anteverted nares, Underdeveloped nasal alae, Short nose ORPHA:2031
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta, Anteverted nares, Short nose ORPHA:1185
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Christian Syndrome
Wide nasal bridge OMIM:309620
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Toluene Embryopathy
Cryptorchidism, Short nose ORPHA:1920
Lowry-Maclean Syndrome
Choanal atresia, Bilateral cryptorchidism, Convex nasal ridge, Hypospadias, Short nose, Short nas... ORPHA:2409
Oculoskeletodental Syndrome
Thick nasal alae, Depressed nasal bridge, Broad columella, Wide nasal bridge ORPHA:557003
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Depressed nasal bridge, Underdeveloped nasal alae, Umbilical hernia, Decre... OMIM:616835
Summitt Syndrome
Craniosynostosis, Plagiocephaly ORPHA:3210
Waardenburg Syndrome, Type 2A
Wide nasal bridge, Underdeveloped nasal alae OMIM:193510
Craniometaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge ORPHA:1522
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft ORPHA:1236
Congenital Disorder Of Glycosylation, Type Id
Wide nasal bridge, Bulbous nose, Depressed nasal bridge OMIM:601110
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly OMIM:309541
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Wide nose ORPHA:89844
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Wide nasal bridge, Umbilical hernia, Anteverted nares, Cryptorchidism, Neonatal death, Hypospadias OMIM:614052
Congenital Neuronal Ceroid Lipofuscinosis
Wide nasal bridge ORPHA:168486
9P13 Microdeletion Syndrome
Precocious puberty, Wide nasal bridge, Umbilical hernia, External genital hypoplasia, Anteverted ... ORPHA:324313
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Wide nasal bridge, Diabetes insipidus OMIM:611087
Warburg Micro Syndrome 3
Small scrotum, Decreased testicular size, Micropenis, Hypoplastic labia minora, Short nose OMIM:614222
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Anteverted nares, Short nose OMIM:616420
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst, Cleft palate OMIM:113650
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly OMIM:615031
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Trigonocephaly, Plagiocephaly, Craniosynostosis, Decreased calvarial ossification OMIM:618265
Focal Facial Dermal Dysplasia Type Iii
Wide nasal bridge, Depressed nasal ridge ORPHA:1807
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Wide nasal bridge, Anteverted nares ORPHA:50812
Genitopalatocardiac Syndrome
Wide nasal bridge, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, male, Hypospadias ORPHA:2075
Muenke Syndrome
Coronal craniosynostosis, Brachycephaly, Plagiocephaly, Cloverleaf skull OMIM:602849
Trisomy 12P
Wide nasal bridge, Short nose, Supernumerary nipple ORPHA:1699
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Decreased fertility, Short nose OMIM:234050
Arthrogryposis, Distal, Type 2A
Wide nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Spina bifida occulta, Short nose OMIM:193700
Al-Raqad Syndrome
Short nose OMIM:616459
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Anteverted nares, Short nose, Wide nose OMIM:613320
Al-Gazali-Bakalinova Syndrome
Wide nasal bridge, Depressed nasal bridge OMIM:607131
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Umbilical hernia, Anteverted nares, Cryptorchidism, Micropenis, Short nose OMIM:616331
Wiedemann-Steiner Syndrome
Wide nasal bridge, Broad nasal tip, Bulbous nose, Depressed nasal tip, Short columella, Cryptorch... OMIM:605130
Tetrasomy 18P
Short nose ORPHA:3307
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Underdeveloped nasal alae, Abnormality of the female genitalia, Abnor... ORPHA:2315
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide nasal bridge, Small scrotum, Depressed nasal bridge, Microphallus, Umbilical hernia, Supernu... OMIM:618454
Macs Syndrome
Wide nasal bridge, Cryptorchidism, Hypergonadotropic hypogonadism, Umbilical hernia OMIM:613075
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Short nose ORPHA:163961
Fibrochondrogenesis 2
Anteverted nares, Short nose OMIM:614524
Peroxisome Biogenesis Disorder 2B
Wide nasal bridge, Adrenal insufficiency, Anteverted nares OMIM:202370
Distal Deletion 9P
Wide nasal bridge, Hypoplastic labia majora, Hypospadias, Short nose ORPHA:1642
Congenital Disorder Of Glycosylation, Type Ii
Wide nasal bridge, Hypothyroidism OMIM:607906
Spinocerebellar Ataxia 47
Wide nasal bridge OMIM:617931
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly ORPHA:94066
Chromosome 13Q33-Q34 Deletion Syndrome
Wide nasal bridge, Penoscrotal transposition, Choanal atresia, Bifid scrotum, Encephalocele, Cryp... OMIM:619148
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly OMIM:618603
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Hypoplastic nasal tip, Cryptorchidism ORPHA:3304
Pierpont Syndrome
Brachycephaly ORPHA:487825
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Anteverted nares, Short nose OMIM:601853
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Bulbous nose, Short nose OMIM:618430
Koolen-De Vries Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Thick nasal alae, Bulbous nose, Prominent nasal bri... ORPHA:96169
Intellectual Developmental Disorder, Autosomal Dominant 65
Wide nasal bridge, Bulbous nose, Anteverted nares OMIM:619320
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Depressed nasal bridge ORPHA:90650
Chromosome 10Q26 Deletion Syndrome
Flared nostrils, Small scrotum, Wide nasal bridge, Prominent nose, Cryptorchidism, Convex nasal r... OMIM:609625
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Anteverted nares, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, M... ORPHA:2282
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Frontal bossing, Umbilical hernia OMIM:600325
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Bicornuate uterus, Short nose OMIM:222448
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Wide nasal bridge, Anteverted nares, Prominent nasal bridge, Enlarged naris ORPHA:371364
Tetrasomy 12P
Anteverted nares, Short nose ORPHA:884
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Wide nasal bridge OMIM:620502
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Broad nasal tip, Low hanging columella OMIM:620157
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Wide nasal bridge, Long nose, Hydrocele testis, Prominent nasal bridge OMIM:137940
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly ORPHA:93950
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Spinal dysraphism, Encephalocele, Meningocele, Anencephaly ORPHA:1908
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:163649
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Bulbous nose, Depressed nasal bridge, Short nose OMIM:617061
Microphthalmia With Limb Anomalies
Flared nostrils, Unilateral cryptorchidism, Depressed nasal bridge, Short nose OMIM:206920
Hengel-Maroofian-Schols Syndrome
Wide nasal bridge OMIM:619641
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Micropenis, Wide nasal bridge OMIM:615966
Opitz Gbbb Syndrome
Wide nasal bridge, Umbilical hernia, Anteverted nares, Cryptorchidism, Micropenis, Abnormal nasop... OMIM:300000
Developmental And Epileptic Encephalopathy 89
Wide nasal bridge, Depressed nasal bridge, Clitoral hypertrophy, Anteverted nares, Neonatal death... OMIM:619124
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Anteverted nares, Short nose OMIM:617877
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose ORPHA:544503
Distal Duplication 5Q
Prominent nasal bridge, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Hypospadias, Short... ORPHA:96097
Histidinuria Due To A Renal Tubular Defect
Wide nasal bridge OMIM:235830
Neurogenic Arthrogryposis Multiplex Congenita
Scaphocephaly, Plagiocephaly ORPHA:1143
Schneckenbecken Dysplasia
Umbilical hernia, Short nose, Stillbirth OMIM:269250
Smith-Magenis Syndrome
Wide nasal bridge, Abnormality of the thyroid gland OMIM:182290
Zechi-Ceide Syndrome
Wide nasal bridge, Wide nose ORPHA:217017
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Wide nasal bridge, Decreased serum estradiol, Elevated circulating luteinizing hormone level, Dec... ORPHA:572333
Myoclonic-Astatic Epilepsy
Thick nasal alae, Anteverted nares, Wide nasal bridge ORPHA:1942
Joubert Syndrome 10
Wide nasal bridge OMIM:300804
Lessel-Kreienkamp Syndrome
Wide nasal bridge OMIM:619149
Oligomeganephronia
Hypertension, Secundum atrial septal defect, Branchial cyst ORPHA:2260
3C Syndrome
Wide nasal bridge, Depressed nasal bridge, Adrenal hypoplasia, Hypoplasia of penis, Hypospadias, ... ORPHA:7
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Histidinuria-Renal Tubular Defect Syndrome
Wide nasal bridge ORPHA:2158
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:2163
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Prominent nose, Abnormality of the male genitalia OMIM:614886
Joubert Syndrome 3
Wide nasal bridge, Anteverted nares OMIM:608629
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Depressed nasal bridge OMIM:167730
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose OMIM:615539
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Prominent nasal bridge, Cryptorchidism, Hypospadias, Short nose ORPHA:251071
B4Galt1-Cdg
Wide nasal bridge, Hypothyroidism ORPHA:79332
Trisomy 20P
Umbilical hernia, Anteverted nares, Cryptorchidism, Spina bifida, Macroorchidism, Hypospadias, Sh... ORPHA:261318
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hypoplasia of penis... ORPHA:1812
Sweeney-Cox Syndrome
Wide nasal bridge, Choanal atresia, Broad nasal tip, Underdeveloped nasal alae, Bilateral cryptor... OMIM:617746
Pontocerebellar Hypoplasia, Type 7
Wide nasal bridge, Broad nasal tip, Cryptorchidism, Ambiguous genitalia, Micropenis OMIM:614969
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus, Anteverted nares, Wide nasal bridge OMIM:616258
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Depressed nasal bridge OMIM:617102
X-Linked Intellectual Disability, Najm Type
Wide nasal bridge ORPHA:163937
Chromosome 5P13 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Low hanging columella OMIM:613174
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Low posterior... ORPHA:261337
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia OMIM:210745
C Syndrome
Wide nasal bridge, Clitoral hypertrophy, Anteverted nares, Cryptorchidism, Short nose OMIM:211750
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, Frontal bossing OMIM:617364
Ritscher-Schinzel Syndrome 4
Micropenis, Cryptorchidism, Wide nasal bridge OMIM:619435
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Wide nasal bridge, Bulbous nose, Broad nasal tip, Umbilical hernia OMIM:620475
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, External genital hypoplasia, Prominent nasal bridge, Cryptorchidism, C... ORPHA:251028
Zellweger Syndrome
Wide nasal bridge, Depressed nasal bridge, Clitoral hypertrophy, Primary adrenal insufficiency, C... ORPHA:912
Peho Syndrome
Short nose OMIM:260565
Noonan Syndrome 13
Wide nasal bridge, Anteverted nares, Cryptorchidism OMIM:619087
Waardenburg Syndrome, Type 3
Wide nasal bridge, Prominent nasal bridge OMIM:148820
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ... OMIM:123500
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly OMIM:614563
Aica-Ribosiduria
Brachycephaly ORPHA:250977
Monosomy 18P
Wide nasal bridge, Hypothyroidism ORPHA:1598
Alkuraya-Kucinskas Syndrome
Small scrotum, Depressed nasal bridge, Anteverted nares, Micropenis, Short nose OMIM:617822
Arthrogryposis, Distal, Type 2B1
Wide nasal bridge, Prominent nasolabial fold OMIM:601680
2P15P16.1 Microdeletion Syndrome
Wide nasal bridge, Supernumerary nipple, Hypogonadism, Decreased testicular size, Prominent nasal... ORPHA:261349
Hall-Riggs Syndrome
Wide nasal bridge, Prominent nose, Anteverted nares ORPHA:2107
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Short nose ORPHA:261144
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia ORPHA:2759
Pseudodiastrophic Dysplasia
Brachycephaly, Frontal bossing OMIM:264180
Grant Syndrome
Brachycephaly, Frontal bossing ORPHA:2097
Oculoskeletodental Syndrome
Wide nasal bridge, Hypothyroidism, Broad columella, Cryptorchidism OMIM:618440
Al Kaissi Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip OMIM:617694
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Bifid scrotum, Anteverted nares, Cryptorchidism, Ambiguous genitalia, Mic... OMIM:257300
Prolidase Deficiency
Concave nasal ridge, Depressed nasal bridge, Short nose OMIM:170100
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Cryptorchidism, Abnormal testis morphology, Hypoplasia of penis, Short nose ORPHA:96147
Pontocerebellar Hypoplasia, Type 3
Brachycephaly OMIM:608027
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:616801
Hyperparathyroidism, Transient Neonatal
Wide nasal bridge, Hyperparathyroidism, Depressed nasal bridge, Umbilical hernia, Anteverted nare... OMIM:618188
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Congenital Heart Defects And Skeletal Malformations Syndrome
Narrow nose, Cryptorchidism, Long nose, Hypospadias, Short nose OMIM:617602
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Dolichocephaly, Brachycephaly, Plagiocephaly, Frontal bossing OMIM:619721
Cri-Du-Chat Syndrome
Wide nasal bridge, Hypospadias, Cryptorchidism OMIM:123450
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:616789
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone conce... OMIM:613457
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Short nose OMIM:300863
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hypospadias, Short nose OMIM:217980
Intellectual Developmental Disorder, Autosomal Dominant 74
Brachycephaly OMIM:620688
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Broad columella, Short nose OMIM:617865
16P11.2P12.2 Microdeletion Syndrome
Bulbous nose, Anteverted nares, Absent nasal bridge, Long nose, Short nose ORPHA:261211
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Short nose OMIM:242860
Trichohepatoenteric Syndrome 2
Wide nasal bridge, Depressed nasal bridge OMIM:614602
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Short nose OMIM:617802
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Wide nasal bridge, Central hypothyroidism, Bilateral cryptorchidism, Decreased testicular size, C... OMIM:300998
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Umbilical hernia, Anteverted nares, Cryptorchidism, Shawl scrotum, Microp... OMIM:301040
Barber-Say Syndrome
Wide nasal bridge, Breast aplasia, Bulbous nose, Anteverted nares, Hypoplastic nipples, Shawl scr... ORPHA:1231
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Familial Benign Copper Deficiency
Wide nasal bridge ORPHA:1551
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Wide nasal bridge OMIM:247410
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Choanal stenosis, Short nose, Abnormal morphology of female internal genitalia ORPHA:1790
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Anteverted nares, Broad nasal tip, Short nose OMIM:618529
Vulto-Van Silfhout-De Vries Syndrome
Brachycephaly, Frontal bossing OMIM:615828
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Short nose OMIM:608776
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Small scrotum, Wide nasal bridge ORPHA:3253
Microcephaly-Capillary Malformation Syndrome
Short nose, Wide nose OMIM:614261
Ohdo Syndrome, X-Linked
Wide nasal bridge, Small scrotum, Depressed nasal bridge, Bulbous nose, Prominent nose, Cryptorch... OMIM:300895
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Short nose OMIM:620250
Ring Chromosome 10 Syndrome
Wide nasal bridge ORPHA:1438
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Wide nasal bridge, Anteverted nares OMIM:602562
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Cryptorchidism, Low insertio... OMIM:619005
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Wide nasal bridge, Slender nose, Short columella, Enlarged naris ORPHA:562528
Laurence-Moon Syndrome
Brachycephaly ORPHA:2377
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Encephalocele, Cryptorchidism ORPHA:1865
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge OMIM:617333
Isolated Arrhinia
Tessier cleft ORPHA:1134
Braddock-Carey Syndrome 1
Wide nasal bridge, Anteverted nares OMIM:619980
Sandestig-Stefanova Syndrome
Wide nasal bridge, Convex nasal ridge OMIM:618804
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Prominent nasal bridge, Short nose OMIM:619179
Pallister-Hall Syndrome
Precocious puberty, Choanal atresia, Depressed nasal bridge, Decreased response to growth hormone... OMIM:146510
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Central hypothyroidism, Underdeveloped nasal alae, Anteverted nares, Prom... OMIM:300912
Cornelia De Lange Syndrome 2
Brachycephaly OMIM:300590
Peroxisome Biogenesis Disorder 13A (Zellweger)
Wide nasal bridge, Depressed nasal bridge, Neonatal death OMIM:614887
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Gastrointestinal hemorrhage, Branchial cyst, Abnormal he... ORPHA:508488
Chromosome 9P Deletion Syndrome
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Anteverted nares, Micropenis, Hypospa... OMIM:158170
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose OMIM:618087
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Flat occiput ORPHA:2511
Cog5-Cdg
Micropenis, Prominent nose, Cryptorchidism, Wide nasal bridge ORPHA:263487
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Wide nasal bridge ORPHA:1563
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Wide nasal bridge, Bulbous nose, Anteverted nares OMIM:220500
Intellectual Developmental Disorder, Autosomal Dominant 1
Depressed nasal ridge, Bulbous nose, Prominent nose, Short columella, Micropenis, Short nose OMIM:156200
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly OMIM:617481
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hypoplastic nipples,... OMIM:608156
Noonan Syndrome With Multiple Lentigines
Wide nasal bridge, Decreased fertility, Cryptorchidism, Spina bifida occulta, Hypospadias ORPHA:500
Schimke Immunoosseous Dysplasia
Wide nasal bridge, Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone conce... OMIM:242900
Atelosteogenesis, Type I
Depressed nasal bridge, Encephalocele, Cryptorchidism, Neonatal death, Stillbirth, Short nose OMIM:108720
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Brachycephaly, Plagiocephaly OMIM:618862
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Wide nasal bridge, Spina bifida occulta, Prominent nasal bridge, Bulbous nose OMIM:617360
Mietens Syndrome
Wide nasal bridge, Short nose, Wide nose ORPHA:2557
Craniofrontonasal Syndrome
Wide nasal bridge, Bifid nasal tip, Umbilical hernia, Breast hypoplasia, Cryptorchidism, Hypoplas... OMIM:304110
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Choanal stenosis, Short nose OMIM:101600
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
External genital hypoplasia, Short nose ORPHA:329178
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Short nose OMIM:619833
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short nose ORPHA:261236
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Wide nasal bridge, Bulbous nose, Depressed nasal bridge, Supernumerary nipple OMIM:620098
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Short columella, Hydrocele testis, Short nose OMIM:613603
Desanto-Shinawi Syndrome
Brachycephaly OMIM:616708
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Wide nasal bridge, Supernumerary nipple OMIM:614376
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal craniosynostosis, Hydrocephalus ORPHA:459061
Sclerosteosis 1
Irregular menstruation, Depressed nasal bridge, Wide nasal bridge OMIM:269500
Desbuquois Dysplasia 1
Concave nasal ridge, Depressed nasal bridge, Short nose OMIM:251450
Distal Deletion 10Q
Wide nasal bridge, Prominent nose, Prominent nasal bridge, Spina bifida occulta, Short nose ORPHA:96148
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wide nasal bridge ORPHA:2774
Trichorhinophalangeal Syndrome Type 2
Thick nasal alae, Bulbous nose, Wide nasal bridge ORPHA:502
Congenital Disorder Of Glycosylation, Type Iig
Wide nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism OMIM:611209
Coffin-Siris Syndrome 6
Plagiocephaly, Frontal bossing OMIM:617808
Heart And Brain Malformation Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares OMIM:616920
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Short nose ORPHA:3078
Pyruvate Dehydrogenase Deficiency
Wide nasal bridge ORPHA:765
Marshall-Smith Syndrome
Choanal atresia, Anteverted nares, Short nose ORPHA:561
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Wide nasal bridge, Supernumerary nipple, Anteverted nares, Cryptorchidism, Chordee OMIM:616728
Developmental And Epileptic Encephalopathy 1
Plagiocephaly OMIM:308350
Rhombencephalosynapsis
Anteverted nares, Abnormality of the uterus, Short nose ORPHA:59315
Osteogenesis Imperfecta, Type Xviii
Wide nasal bridge, Umbilical hernia OMIM:617952
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Wide nasal bridge, Anteverted nares ORPHA:2518
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide nasal bridge, Prominent nose OMIM:201170
Spastic Paraplegia 51, Autosomal Recessive
Wide nasal bridge, Long nose, Bulbous nose OMIM:613744
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Shor... ORPHA:50810
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Cranial asymmetry ORPHA:137634
Zaki Syndrome
Wide nasal bridge, Anteverted nares, Wide nose OMIM:619648
Orofaciodigital Syndrome Xix
Wide nasal bridge, Bifid nasal tip, Underdeveloped nasal alae, Thick nasal alae, Short columella OMIM:620107
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Wide nasal bridge, Depressed nasal bridge, Absent nipple, Umbilical hernia OMIM:104350
Cadds
Adrenal hypoplasia, Short nose ORPHA:369942
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose ORPHA:1129
Deafness-Craniofacial Syndrome
Wide nasal bridge, Underdeveloped nasal alae ORPHA:3241
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly OMIM:618731
Non-Distal Deletion 10Q
Wide nasal bridge ORPHA:1581
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Short nose, Narrow naris OMIM:122880
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Brachycephaly ORPHA:70472
Weiss-Kruszka Syndrome
Anteverted nares, Short nose OMIM:618619
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Bulbous nose, Short nose OMIM:618571
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Short nose ORPHA:163966
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Wide nasal bridge, Prominent nose, Umbilical hernia ORPHA:1292
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Retinal hemorrhage, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle ... ORPHA:99827
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Thickened calvaria, Brachycephaly, Spina bifida occulta, Frontal bossing, Fl... ORPHA:2780
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Decreased response to growth hormone stimulation test, External genital hypoplas... ORPHA:177907
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Depressed nasal bridge, Breast hypoplasia, Cryptorchidism, Shawl scrotum, Short nose OMIM:601353
Kleefstra Syndrome
Supernumerary nipple, Anteverted nares, Cryptorchidism, Micropenis, Hypoplasia of penis, Hypospad... ORPHA:261494
Robinow-Sorauf Syndrome
Craniosynostosis, Plagiocephaly, Pansynostosis OMIM:180750
Rubinstein-Taybi Syndrome
Wide nasal bridge, Cryptorchidism, Convex nasal ridge ORPHA:783
Prune1-Related Neurological Syndrome
Plagiocephaly ORPHA:544469
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Small scrotum, Microphallus, Depressed nasal tip, Cryptorchidism, Ambiguous ge... OMIM:612651
Takenouchi-Kosaki Syndrome
Flared nostrils, Wide nasal bridge, Bulbous nose, Cryptorchidism, Hypospadias OMIM:616737
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Wide nasal bridge, Anteverted nares, Cryptorchidism, Aplasia/Hypoplasia of th... ORPHA:96092
Lathosterolosis
Bulbous nose, Anteverted nares, Meningocele, Hypoplasia of penis, Short nose ORPHA:46059
Cornelia De Lange Syndrome 5
Brachycephaly OMIM:300882
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly ORPHA:1387
Congenital Myopathy 22A, Classic
Wide nasal bridge, Neonatal death OMIM:620351
Xq28 (MECP2) duplication
Brachycephaly DECIPHER:45
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Depressed nasal bridge, Anteverted nares OMIM:222765
Ritscher-Schinzel Syndrome 1
Brachycephaly, Prominent occiput, Hydrocephalus OMIM:220210
Short Syndrome
Wide nasal bridge, Ovarian cyst, Underdeveloped nasal alae, Insulin-resistant diabetes mellitus OMIM:269880
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Anteverted nares, Broad nasal tip, Underdeveloped nasal alae ORPHA:438216
Cenani-Lenz Syndrome
Hypothyroidism, Convex nasal ridge, Short nose ORPHA:3258
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Bulbous nose, Abnormality of thyroid ... OMIM:300968
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly OMIM:616083
Intellectual Disability, Buenos-Aires Type
Wide nasal bridge, Umbilical hernia ORPHA:3079
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly OMIM:619910
Down Syndrome
Depressed nasal ridge, Depressed nasal bridge, Umbilical hernia, Type II diabetes mellitus, Decre... ORPHA:870
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Wide nasal bridge, Pancreatic lymphangiectasis, Cryptorchidism, Thyroid lymphangiectasia, Micropenis OMIM:235255
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Short nose OMIM:601675
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Broad nasal tip, Short nose OMIM:614749
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Anteverted nares, Short nose OMIM:615398
Sialuria
Wide nasal bridge, Cholelithiasis ORPHA:3166
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Cryptorchidism, Thyroid lymphangiect... OMIM:235510
Tetrasomy 5P
Wide nasal bridge, Anteverted nares, Short nose ORPHA:3309
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short nose, Micropen... OMIM:616894
Macrocephaly-Developmental Delay Syndrome
Wide nasal bridge ORPHA:397612
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Cooper-Jabs Syndrome
Brachycephaly, Frontal bossing, Umbilical hernia ORPHA:1488
Fibrochondrogenesis 1
Depressed nasal bridge, Anteverted nares, Short nose, Stillbirth OMIM:228520
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Absent nipple, Branchial cyst, Bilate... OMIM:620186
Sialidosis Type 1
Wide nasal bridge ORPHA:812
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Wide nasal bridge OMIM:620070
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge OMIM:614230
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Stillbirth, Short nose OMIM:200600
Houge-Janssens Syndrome 2
Plagiocephaly, Hydrocephalus OMIM:616362
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge OMIM:616367
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Wide nasal bridge, Long nose OMIM:617146
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short nose ORPHA:2719
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose ORPHA:560
Pontocerebellar Hypoplasia, Type 2E
Short nose, Wide nose OMIM:615851
Sheldon-Hall Syndrome
Wide nasal bridge ORPHA:1147
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Wide nasal bridge, Underdeveloped nasal alae, Abnormal female external genita... ORPHA:2637
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly OMIM:620240
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Short nose OMIM:613735
Antley-Bixler Syndrome
Choanal atresia, Anteverted nares, Short nose ORPHA:83
Houge-Janssens Syndrome 3
Plagiocephaly, Frontal bossing, Umbilical hernia OMIM:618354
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Aplasia... OMIM:618820
Williams-Beuren Region Duplication Syndrome
Brachycephaly, Hydrocephalus OMIM:609757
Malan Overgrowth Syndrome
Scaphocephaly, Plagiocephaly, Frontal bossing ORPHA:420179
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:314655
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Hydrocephalus OMIM:109120
Van Maldergem Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Mi... OMIM:615546
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Brachycephaly OMIM:268850
Robinow Syndrome
Webbed penis, Small scrotum, Flared nostrils, Broad nasal tip, Depressed nasal bridge, Umbilical ... ORPHA:97360
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Cryptorchidism, Convex nasal ridge, Hypospadias, Short nose OMIM:300661
Au-Kline Syndrome
Bifid nasal tip, Underdeveloped nasal alae, Supernumerary nipple, Prominent nasal bridge, Cryptor... OMIM:616580
Humeroradial Synostosis
Wide nasal bridge OMIM:236400
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Brachycephaly, Sagittal... OMIM:603116
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypogonadism, Prominent nasal bridge, Underdeveloped nasal alae, Wide nasal bridge ORPHA:163746
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Anteverte... ORPHA:3107
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Broad nasal tip, Short nose OMIM:239300
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose ORPHA:79113
Malan Syndrome
Short nose OMIM:614753
Diaphanospondylodysostosis
Depressed nasal bridge, Depressed nasal ridge, Short nose OMIM:608022
Adenylosuccinase Deficiency
Anteverted nares, Short nose OMIM:103050
Cerebrooculonasal Syndrome
Proboscis, Anteverted nares, Prominent nasal bridge, Encephalocele, Hypoplastic male external gen... OMIM:605627
2Q32Q33 Microdeletion Syndrome
Brachycephaly ORPHA:251019
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Wide nasal bridge, Supernumerary nipple, Anteverted nares, Narrow nasal tip, Cryptorchidism, Chor... ORPHA:477993
Desmosterolosis
Hypoplastic nasal bridge, Ambiguous genitalia, female, Anteverted nares, Ambiguous genitalia, mal... OMIM:602398
Osteoglophonic Dysplasia
Choanal atresia, Depressed nasal bridge, Nasal congestion, Anteverted nares, Cryptorchidism, Chor... OMIM:166250
Bresek Syndrome
Plagiocephaly, Hydrocephalus ORPHA:85284
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Short nose, Prominent nasal bridge OMIM:300749
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Anteverted nares, Short nose OMIM:614701
Recombinant Chromosome 8 Syndrome
Brachycephaly OMIM:179613
Jaberi-Elahi Syndrome
Depressed nasal bridge, Short nose OMIM:617988
Vitamin D-Dependent Rickets, Type 2A
Wide nasal bridge, Elevated circulating parathyroid hormone level, Secondary hyperparathyroidism OMIM:277440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Broad nasal tip, Short nose OMIM:614207
Waardenburg Syndrome, Type 1
Wide nasal bridge, Underdeveloped nasal alae, Myelomeningocele, Aplasia of the vagina, Spina bifida OMIM:193500
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Panhypopituitarism, Depressed nasal tip, Midline def... OMIM:610828
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Hypothyroidism, Short nose OMIM:618005
Fetal Alcohol Syndrome
Anteverted nares, Short nose ORPHA:1915
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Wide nasal base, Depressed nasal bridge, Wide nasal bridge ORPHA:397709
Lathosterolosis
Anteverted nares, Ambiguous genitalia, male, Prominent nasal tip, Bilobate gallbladder, Short nose OMIM:607330
Neurodegeneration With Brain Iron Accumulation 2A
Short nose OMIM:256600
Poikiloderma With Neutropenia
Depressed nasal bridge, Recurrent sinusitis, Underdeveloped nasal alae, Short nose OMIM:604173
Insulin-Like Growth Factor I, Resistance To
Wide nasal bridge, Diabetes mellitus, Increased circulating insulin-like growth factor 1 concentr... OMIM:270450
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Short nose ORPHA:93258
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Short nose, Neonatal death OMIM:608013
Van Esch-O'Driscoll Syndrome
Spina bifida occulta, Hypogonadotropic hypogonadism, Depressed nasal bridge, Short nose OMIM:301030
Coffin-Siris Syndrome
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... ORPHA:1465
Acrocardiofacial Syndrome
Wide nasal bridge, Cryptorchidism, Hyperthyroidism, Hypoplasia of penis, Hypospadias ORPHA:2008
Gorlin Syndrome
Wide nasal bridge, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hypogonadi... ORPHA:377
Pitt-Hopkins Syndrome
Flared nostrils, Wide nasal bridge, Supernumerary nipple, Cryptorchidism, Micropenis OMIM:610954
Hyperphosphatasia-Intellectual Disability Syndrome
Wide nasal bridge, Bulbous nose, Prominent nasal bridge, Supernumerary nipple ORPHA:247262
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Umbilical hernia OMIM:617751
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Anteverted nares, Cryptorchidism, Short nose OMIM:247200
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly OMIM:618089
3Mc Syndrome 2
Wide nasal bridge, Depressed nasal tip, Prominent nasal bridge, Cryptorchidism, Hypospadias OMIM:265050
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Bulbous nose, Hypo... OMIM:614114
Microphthalmia, Syndromic 9
Wide nasal bridge, Cryptorchidism, Neonatal death, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Intellectual Developmental Disorder, Autosomal Dominant 58
Wide nasal bridge, Broad nasal tip OMIM:618106
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Short nose OMIM:608612
Neuhauser Syndrome
Wide nasal bridge, Depressed nasal bridge, Primary hypothyroidism OMIM:249310
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nasal bridge, Depressed nasal tip, Prominent nose, Short columella, Long nose, Wide nose ORPHA:2995
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Anteverted nares, Short nose OMIM:610536
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Anteverted nares, Short nose ORPHA:1358
Bohring-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Supernumerary nipple, Anteverted nares, Hyperechogenic... OMIM:605039
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Short nose OMIM:219200
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Anteverted nares OMIM:607014
Jacobsen Syndrome
Depressed nasal bridge, Annular pancreas, Anteverted nares, Cryptorchidism, Labial hypoplasia, Sh... OMIM:147791
Trisomy 18
Choanal atresia, Abnormal morphology of female internal genitalia, Cryptorchidism, Spina bifida, ... ORPHA:3380
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Umbilical hernia, Prominent nasal bridge, Female pseudohermaphroditism, Crypto... ORPHA:1519
Chopra-Amiel-Gordon Syndrome
Brachycephaly OMIM:619504
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anteverted nares, Hydrocele testis, Short nose OMIM:614080
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, Nasal congestion, Thick nasal alae, Short columella, Shor... ORPHA:79345
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Meningocele, Hypoplasia of penis, Short nose ORPHA:2879
Desmosterolosis
Depressed nasal bridge, Ambiguous genitalia, Abnormality of the nose, Short nose ORPHA:35107
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Umbilical hernia ORPHA:500159
Sialuria
Wide nasal bridge, Hypoplastic nipples OMIM:269921
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Long nose, Short nose OMIM:618590
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Fryns Syndrome
Wide nasal bridge, Anteverted nares, Cryptorchidism, Bicornuate uterus, Hypospadias ORPHA:2059
Ring Chromosome 13 Syndrome
Wide nasal bridge, Depressed nasal bridge, Bifid scrotum, Anteverted nares, Primary hypothyroidis... ORPHA:96176
Oculodentodigital Dysplasia
Abnormality of the nose, Underdeveloped nasal alae, Umbilical hernia, Broad columella, Narrow nas... ORPHA:2710
Opsismodysplasia
Depressed nasal bridge, Short nose ORPHA:2746
Tarp Syndrome
Wide nasal bridge, Anteverted nares, Neonatal death OMIM:311900
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Short nose OMIM:311300
Opitz Gbbb Syndrome
Wide nasal bridge, Bifid scrotum, Umbilical hernia, Anteverted nares, Cryptorchidism, Enlarged ov... ORPHA:2745
Cutis Laxa, Autosomal Recessive, Type Iiia
Brachycephaly, Frontal bossing, Umbilical hernia OMIM:219150
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Anteverted nares, Short nose, Hypospadias, Epispadias ORPHA:3339
Intellectual Developmental Disorder, Autosomal Dominant 73
Premature adrenarche, Wide nasal bridge, Underdeveloped nasal alae, Prominent nose, Anteverted na... OMIM:620450
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Short nose OMIM:277450
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Underdeveloped nasal alae, Decreased response to growth hormone stimulati... OMIM:616007
3Q29 Microdeletion Syndrome
Prominent nasal bridge, Hypospadias, Short nose ORPHA:65286
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Hydrocephalus, Frontal bossing OMIM:207410
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Narrow nose, Prominent nasal brid... OMIM:601812
Chops Syndrome
Anteverted nares, Cryptorchidism, Short nose OMIM:616368
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:357001
Gapo Syndrome
Depressed nasal bridge, Umbilical hernia, Breast hypoplasia, Anteverted nares, Hypoplastic nipple... OMIM:230740
Aica-Ribosiduria Due To Atic Deficiency
Brachycephaly, Frontal bossing OMIM:608688
Ring Chromosome 7 Syndrome
Wide nasal bridge, Narrow naris, Hypogonadism, Anteverted nares, Prominent nasal bridge, Hydrocel... ORPHA:1449
Stromme Syndrome
Wide nasal bridge, Short columella, Prominent nasal bridge, Stillbirth OMIM:243605
Nicolaides-Baraitser Syndrome
Wide nasal base, Umbilical hernia, Bulbous nose, Narrow nasal bridge, Anteverted nares, Cryptorch... OMIM:601358
Short Syndrome
Wide nasal bridge, Diabetes mellitus ORPHA:3163
Rabin-Pappas Syndrome
Wide nasal bridge, Broad nasal tip, Low hanging columella OMIM:620155
Cerebellar Ataxia-Hypogonadism Syndrome
Brachycephaly ORPHA:1173
Megalocornea-Intellectual Disability Syndrome
Wide nasal bridge, Hypothyroidism ORPHA:2479
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Brachycephaly OMIM:618142
Geleophysic Dysplasia 3
Wide nasal bridge, Bulbous nose, Anteverted nares, Depressed nasal bridge OMIM:617809
Cantú Syndrome
Wide nasal bridge, Anteverted nares, Umbilical hernia ORPHA:1517
Tbck-Related Intellectual Disability Syndrome
Wide nasal bridge, Decreased response to growth hormone stimulation test, Bulbous nose, Central a... ORPHA:488632
Lujan-Fryns Syndrome
Brachycephaly ORPHA:776
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Myelomeningocele, Encephalocele, Hypospadias, Short nose ORPHA:90652
Autosomal Recessive Robinow Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplastic female external genitalia, Umbilical herni... ORPHA:1507
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Wide nasal bridge, Bulbous nose, Depressed nasal tip OMIM:620494
Chromosome 6Pter-P24 Deletion Syndrome
Brachycephaly, Frontal bossing, Hydrocephalus, Umbilical hernia OMIM:612582
Musculocontractural Ehlers-Danlos Syndrome
Prominent nasolabial fold, Cryptorchidism, Short nose ORPHA:2953
Pfeiffer Syndrome
Wide nasal bridge ORPHA:710
Larsen-Like Syndrome
Brachycephaly, Frontal bossing OMIM:608545
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Anteverted nares ORPHA:221139
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Depressed nasal bridge, Anteverted nares, Hypoplastic labia minora, Hypoplastic la... OMIM:269150
Adult Syndrome
Wide nasal bridge, Absent nipple, Breast hypoplasia, Prominent nasal bridge, Hypoplastic nipples ORPHA:978
Marshall-Smith Syndrome
Choanal atresia, Recurrent upper respiratory tract infections, Depressed nasal bridge, Umbilical ... OMIM:602535
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Underdeveloped nasal alae, Bulbous nose, Short columella, Prominent nasal bridge, Short nose ORPHA:364577
2Q23.1 Microdeletion Syndrome
Brachycephaly ORPHA:228402
Dend Syndrome
Anteverted nares, Short nose ORPHA:79134
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Neoplasm of the adrenal cortex, Anteverted nares, Thyroid carcinoma, Hashimoto ... ORPHA:109
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Annular pancreas, Hypogonadism, Cryptorchidism, Short nose OMIM:268400
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Short nose ORPHA:93259
Cerebrofacioarticular Syndrome
Wide nasal bridge, Absence of pubertal development, Hypospadias, Bilateral choanal atresia/stenosis ORPHA:314679
Acromelic Frontonasal Dysplasia
Brachycephaly, Encephalocele, Meningocele ORPHA:1827
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Cryptorchidism, Shawl scrotum, Short nose OMIM:227330
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Prominent nasolabial fold, Short nose ORPHA:357074
Fraser Syndrome
Wide nasal bridge, Small scrotum, Depressed nasal bridge, Abnormal vagina morphology, Underdevelo... ORPHA:2052
Hamamy Syndrome
Hypoparathyroidism, Anteverted nares, Cryptorchidism, Wide nasal bridge OMIM:611174
Kury-Isidor Syndrome
Brachycephaly, Frontal bossing OMIM:619762
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad nasal tip, Underdeveloped nasal alae, Decreased response to growth hormone stimulation test... ORPHA:268261
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Bilateral choanal atresia, Supernumerary nipple, Micropenis, Vaginal dryness, ... OMIM:106260
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short nose ORPHA:1340
Raine Syndrome
Depressed nasal bridge, Choanal atresia, Neonatal death, Choanal stenosis, Short nose OMIM:259775
Inverted Duplicated Chromosome 15 Syndrome
Brachycephaly ORPHA:3306
Peho Syndrome
Anteverted nares, Short nose ORPHA:2836
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:617296
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Craniolenticulosutural Dysplasia
Wide nasal bridge, Anteverted nares, Prominent nasal bridge, Cryptorchidism OMIM:607812
Mosaic Trisomy 1
Micropenis, Depressed nasal bridge, Penile hypospadias, Wide nasal bridge ORPHA:1692
Alg9-Cdg
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplastic nipples, Hypoplasia of the ovary, ... ORPHA:79328
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Cryptorchidism, Short nose OMIM:258315
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Supernumerary nipple, Decreased response to growth hormone stimulation test, A... OMIM:213980
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide nasal bridge, Depressed nasal bridge, Anteverted nares OMIM:611717
1Q21.1 Microdeletion Syndrome
Wide nasal bridge, Bulbous nose, Cryptorchidism ORPHA:250989
X-Linked Intellectual Disability, Wilson Type
Brachycephaly ORPHA:85290
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Supernumerary nipple ORPHA:457279
Faciocardiorenal Syndrome
Wide nasal bridge, Underdeveloped nasal alae ORPHA:1973
Rauch-Steindl Syndrome
Wide nasal bridge, Depressed nasal bridge OMIM:619695
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Sagittal ... OMIM:201000
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Short nose OMIM:616723
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Wide nasal bridge, Underdeveloped nasal alae, Decreased response to growth ho... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Wide nasal bridge, Underdeveloped nasal alae, Decreased response to growth ho... ORPHA:363958
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Clitoral hypertrophy, Anteverted nares, Hypoplastic labia majora, Short nose OMIM:244450
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Short nose ORPHA:93260
Chromosome 17P13.1 Deletion Syndrome
Plagiocephaly, Umbilical hernia, Turricephaly, Brachycephaly, Hydrocephalus, Spina bifida OMIM:613776
Chromosome 2Q37 Deletion Syndrome
Brachycephaly OMIM:600430
Ogden Syndrome
Wide nasal bridge, Flared nostrils, Bifid nasal tip, Depressed nasal bridge, Underdeveloped nasal... OMIM:300855
Pontocerebellar Hypoplasia Type 7
Wide nasal bridge, Depressed nasal bridge, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis... ORPHA:284339
Hennekam-Beemer Syndrome
Wide nasal bridge, Long nose, Wide nose ORPHA:2135
Jacobsen Syndrome
Wide nasal bridge, Annular pancreas, Broad columella, Anteverted nares, Cryptorchidism, Spina bif... ORPHA:2308
Mesomelic Dysplasia, Nievergelt Type
Dolichocephaly, Brachycephaly ORPHA:2633
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hypoplasia of the ovary, Convex nasal ridge, Micropenis, Short nose OMIM:619321
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptorchidism, Decrea... OMIM:619004
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Convex nasal ridge, Short nose ORPHA:90154
Holoprosencephaly 9
Anterior pituitary agenesis, Choanal atresia, Broad nasal tip, Depressed nasal bridge, Single nar... OMIM:610829
Cartilage-Hair Hypoplasia
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Spinal dysraphism, Anteverted n... ORPHA:175
Kleefstra Syndrome Due To A Point Mutation
Brachycephaly, Plagiocephaly, Umbilical hernia ORPHA:261652
Perlman Syndrome
Wide nasal bridge, Depressed nasal bridge, Cryptorchidism, Pancreatic islet-cell hyperplasia OMIM:267000
Orofaciodigital Syndrome Type 4
Choanal atresia, Depressed nasal ridge, Decreased testicular size, Primary adrenal insufficiency,... ORPHA:2753
Andersen-Tawil Syndrome
Hyperaldosteronism, Bulbous nose, Wide nasal bridge ORPHA:37553
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Cryptorchidism, Short nose OMIM:609942
Monosomy 9P
Choanal atresia, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Ambiguous genitalia, H... ORPHA:261112
Tolchin-Le Caignec Syndrome
Precocious puberty, Wide nasal bridge, Prominent nose, Umbilical hernia OMIM:618971
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Branchio-Oculo-Facial Syndrome
Wide nasal bridge, Broad nasal tip ORPHA:1297
Chromosome 16P13.3 Duplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Cryptorchidism, Short ... OMIM:613458
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Brachycephaly, Flat occiput ORPHA:505237
Kosaki Overgrowth Syndrome
Wide nasal bridge, Depressed nasal bridge OMIM:616592
Hoxha-Aliu Syndrome
Wide nasal bridge OMIM:620662
Mucopolysaccharidosis-Plus Syndrome
Wide nasal bridge, Wide nose OMIM:617303
Phelan-Mcdermid Syndrome
Wide nasal bridge, Bulbous nose, Concave nasal ridge OMIM:606232
Momo Syndrome
Wide nasal bridge OMIM:157980
Robinow Syndrome, Autosomal Recessive 1
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Anteverted nares, Hypoplastic labia ... OMIM:268310
Oculodentodigital Dysplasia
Underdeveloped nasal alae, Narrow nose, Narrow nasal bridge, Anteverted nares, Low hanging colume... OMIM:164200
Bcard Syndrome
Anteverted nares, Short nose OMIM:612394
Acrocallosal Syndrome
Wide nasal bridge, Umbilical hernia, Cryptorchidism, Micropenis, Rectovaginal fistula, Hypospadia... OMIM:200990
Hallermann-Streiff Syndrome
Thin calvarium, Scaphocephaly, Parietal bossing, Brachycephaly, Spina bifida, Dolichocephaly, Pla... OMIM:234100
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Bulbous nose, Anteverted nares, Short nose OMIM:115150
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly OMIM:612379
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Bulbous nose, Anteverted nares, Long nose, Short nose ORPHA:508533
Gillessen-Kaesbach-Nishimura Syndrome
Brachycephaly OMIM:263210
Trisomy 8P
Depressed nasal bridge, Recurrent upper respiratory tract infections, Annular pancreas, Anteverte... ORPHA:264450
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Depressed nasal bridge, Bulbous nose, Congenital hypothyroidism, Anteverted nares, Short nose OMIM:271510
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Wide nasal bridge, Clitoral hypertrophy, Bulbous nose, Labial hypoplasia, Bicornuate uterus ORPHA:140952
Cerebellar-Facial-Dental Syndrome
Wide nasal bridge, Anteverted nares, Cryptorchidism ORPHA:444072
Temtamy Preaxial Brachydactyly Syndrome
Short nose ORPHA:363417
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Short nose OMIM:258480
Dubowitz Syndrome
Wide nasal bridge, Broad nasal tip, Prominent nasal bridge, Cryptorchidism, Hypospadias OMIM:223370
Menke-Hennekam Syndrome 1
Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Unde... OMIM:618332
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Depressed nasal bridge, Wide nasal bridge, Micropenis, Hypospadias OMIM:619479
Frontofacionasal Dysplasia
Cranium bifidum occultum, Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Shor... OMIM:229400
Cerebrofaciothoracic Dysplasia
Short nose, Wide nose ORPHA:1394
Elsahy-Waters Syndrome
Wide nasal bridge, Bifid nasal tip, Bifid scrotum, Bilateral cryptorchidism, Bulbous nose, Anteve... OMIM:211380
Contractural Arachnodactyly, Congenital
Dolichocephaly, Brachycephaly, Frontal bossing, Scaphocephaly OMIM:121050
Developmental And Epileptic Encephalopathy 80
Wide nasal bridge OMIM:618580
Multiple Synostoses Syndrome 1
Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae OMIM:186500
Fryns Syndrome
Wide nasal bridge, Hypospadias, Bifid scrotum, Anteverted nares, Cryptorchidism, Shawl scrotum, S... OMIM:229850
Van Maldergem Syndrome 1
Wide nasal bridge, Hypospadias OMIM:601390
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Brachycephaly, Umbilical hernia ORPHA:2095
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Shawl scrotum, Short nose ORPHA:1974
Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Hypogonadism, Anteverted nares, Cryptorchidism, Agenesis of pineal gland,... ORPHA:536471
Baller-Gerold Syndrome
Narrow nasal bridge, Prominent nasal bridge, Short nose ORPHA:1225
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Wide nasal bridge, Hydranencephaly, Bulbous nose, Anteverted nares, Cryptorchidism OMIM:620371
Basal Cell Nevus Syndrome 1
Wide nasal bridge, Ovarian fibroma, Spina bifida, Ovarian carcinoma OMIM:109400
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Wide nasal bridge, Hypothyroidism OMIM:618569
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Wide nasal bridge, Imperforate hymen, Hematocolpos, Broad nasal tip, Bulbous nose, Anteverted nar... OMIM:619522
Molybdenum Cofactor Deficiency, Type B
Short nose, Neonatal death OMIM:252160
White-Kernohan Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Hypothyroidism, Rectovaginal... OMIM:619426
Immunodeficiency 59 And Hypoglycemia
Wide nasal bridge, Narrow nose, Recurrent upper respiratory tract infections OMIM:233600
Coffin-Siris Syndrome 4
Wide nasal bridge, Depressed nasal bridge, Thick nasal alae, Narrow nasal bridge, Anteverted nare... OMIM:614609
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Short nose OMIM:154780
Monosomy 9Q22.3
Ovarian fibroma, Short nose, Umbilical hernia ORPHA:77301
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... OMIM:164210
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Plagiocephaly, Frontal bossing OMIM:619720
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Umbilical hernia OMIM:616579
Piebaldism
Wide nasal bridge ORPHA:2884
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Wide nasal bridge, Broad nasal tip, Broad columella, Thick nasal alae, Bulbou... OMIM:619950
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Wide nasal bridge ORPHA:2314
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Wide nasal bridge, Depressed nasal bridge, Primary amenorrhea OMIM:619418
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Witteveen-Kolk Syndrome
Wide nasal bridge, Flared nostrils, Depressed nasal bridge, Branchial fistula, Microphallus, Male... OMIM:613406
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Congenital hypothyroidism, Short nose OMIM:617527
Congenital Disorder Of Glycosylation, Type Iie
Short nose, Wide nose OMIM:608779
Arthrogryposis Multiplex Congenita 5
Wide nasal bridge, Anteverted nares, Prominent nasolabial fold, Umbilical hernia OMIM:618947
Fg Syndrome Type 1
Plagiocephaly, Umbilical hernia, Prominent occiput, Hydrocephalus, Craniosynostosis ORPHA:93932
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Thick nasal alae, Wide nasal bridge OMIM:618727
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Congenital hypothyroidism, Thyroid hypoplasia ORPHA:521445
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Depressed nasal bridge, Precocious puberty, Wide nasal bridge ORPHA:369837
17Q24.2 Microdeletion Syndrome
Wide nasal bridge, Pineal cyst, Secondary amenorrhea ORPHA:529962
Simpson-Golabi-Behmel Syndrome
Wide nasal bridge, Supernumerary nipple, Umbilical hernia, Anteverted nares, Cryptorchidism, Panc... ORPHA:373
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Rhinitis, Anteverted nares ORPHA:93473
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Menkes Disease
Brachycephaly OMIM:309400
Acromesomelic Dysplasia 4
Wide nasal bridge, Umbilical hernia OMIM:619636
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Brachycephaly, Flat occiput OMIM:618797
Galloway-Mowat Syndrome 4
Plagiocephaly OMIM:617730
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency, Short nose OMIM:614863
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Absent nipple, Underdeveloped nasal alae, Aplasia/Hypoplastia of the eccr... OMIM:305100
Wieacker-Wolff Syndrome, Female-Restricted
Brachycephaly OMIM:301041
ERI1-related disease
Trigonocephaly, Brachycephaly, Frontal bossing OMIM:608739
Cardiac-Urogenital Syndrome
Wide nasal bridge, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Pen... OMIM:618280
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Stevenson-Carey Syndrome
Brachycephaly OMIM:611961
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Wide nasal bridge, Microphallus, Prominent nasal bridge, Cryptorchidism, Hypospadias ORPHA:468631
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge ORPHA:1352
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
19P13.12 Microdeletion Syndrome
Craniosynostosis, Brachycephaly ORPHA:254346
Stuve-Wiedemann Syndrome 1
Wide nasal base, Anteverted nares, Low hanging columella, Short nose OMIM:601559
Rubinstein-Taybi Syndrome 1
Wide nasal bridge, Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Promin... OMIM:180849
Aymé-Gripp Syndrome
Depressed nasal bridge, Breast hypoplasia, Cryptorchidism, Short nose ORPHA:1272
Goldberg-Shprintzen Syndrome
Wide nasal bridge, Bulbous nose, Prominent nasal bridge OMIM:609460
Progressive Non-Infectious Anterior Vertebral Fusion
Wide nasal bridge, Depressed nasal bridge ORPHA:2062
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Disproportionate short-limb short stature ORPHA:93271
Schinzel-Giedion Syndrome
Broad nasal tip, Central hypothyroidism, Annular pancreas, Umbilical hernia, Streak ovary, Choana... ORPHA:798
Robinow Syndrome, Autosomal Dominant 1
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Anteverted nares, Cryptorchidism, Hy... OMIM:180700
Orofaciodigital Syndrome I
Wide nasal bridge, Underdeveloped nasal alae, Myelomeningocele, Ovarian cyst, Pancreatic cysts OMIM:311200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Wide nasal bridge, Bifid scrotum, Cryptorchidism, Short nose, Micropenis, Hypospadias, Clitoral h... OMIM:609945
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Short nose OMIM:620369
Frontometaphyseal Dysplasia 2
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Delayed puberty OMIM:617137
Acrofrontofacionasal Dysostosis 2
Brachycephaly OMIM:239710
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Plagiocephaly OMIM:619227
Alagille Syndrome
Spina bifida occulta, Brachycephaly, Frontal bossing ORPHA:52
22Q11.2 Deletion Syndrome
Wide nasal bridge, Choanal atresia, Cholelithiasis, Abnormality of the uterus, Umbilical hernia, ... ORPHA:567
Mucopolysaccharidosis, Type X
Wide nasal bridge OMIM:619698
Apert Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, Brachycephaly, Sagitta... OMIM:101200
Fontaine Progeroid Syndrome
Small scrotum, Depressed nasal bridge, Absent nipple, Umbilical hernia, Cryptorchidism, Neonatal ... OMIM:612289
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
Leukocyte Adhesion Deficiency Type Ii
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Umbilical hernia ORPHA:99843
Tarp Syndrome
Wide nasal bridge, Anteverted nares, Cryptorchidism ORPHA:2886
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Wide nasal bridge OMIM:615560
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Depressed nasal bridge, Increased size of nasopharyngeal adenoids, Short nose ORPHA:457395
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly OMIM:619188
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Brachycephaly, Plagiocephaly, Hydrocephalus ORPHA:500055
Cutis Laxa, Autosomal Recessive, Type Iid
Wide nasal bridge, Narrow naris, Bilateral cryptorchidism, Bulbous nose, Micropenis OMIM:617403
Trisomy 10P
Depressed nasal bridge, Abnormality of the nose, Anteverted nares, Absent gallbladder, Rectovagin... ORPHA:171929
Wars2-Related Combined Oxidative Phosphorylation Defect
Wide nasal bridge ORPHA:572798
Zimmermann-Laband Syndrome 1
Wide nasal bridge, Long penis, Broad nasal tip, Umbilical hernia, Spina bifida occulta OMIM:135500
Léri-Weill Dyschondrosteosis
Wide nasal bridge, Depressed nasal bridge ORPHA:240
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Wide nasal bridge, Anteverted nares, Cryptorchidism, Ambiguous genitalia, Micropenis OMIM:617641
Peroxisome Biogenesis Disorder 1B
Wide nasal bridge, Convex nasal ridge OMIM:601539
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short nose ORPHA:476126
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Wide nasal bridge, Broad nasal tip, Cryptorchidism, Supernumerary nipple OMIM:619194
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Broad nasal tip, Bulbous nose, Cryptorchidism, Micropenis, Hypospadias, S... OMIM:309590
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Depressed nasal tip, Wide nasal bridge OMIM:614083
Oculocerebrofacial Syndrome, Kaufman Type
Brachycephaly, Flat occiput ORPHA:2707
Hajdu-Cheney Syndrome
Wide nasal bridge, Umbilical hernia, Anteverted nares, Delayed puberty, Hypospadias, Wide nose ORPHA:955
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Hypoplastic nipples, Hydrocele testis OMIM:280000
Helsmoortel-Van Der Aa Syndrome
Wide nasal bridge, Broad nasal tip, Decreased response to growth hormone stimulation test, Anteve... OMIM:615873
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Wide nasal bridge, Clitoral hypertrophy, Male pseudohermaphroditism, A... ORPHA:2556
Carpenter Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Bilateral cryptorchidism, Supernumerary nipple, Umbili... OMIM:614976
Cohen-Gibson Syndrome
Wide nasal bridge, Depressed nasal bridge, Cryptorchidism, Umbilical hernia OMIM:617561
3Q29 Microduplication Syndrome
Wide nasal bridge ORPHA:251038
Lymphangiectasia, Pulmonary, Congenital
Wide nasal bridge, Depressed nasal bridge OMIM:265300
Developmental And Epileptic Encephalopathy 84
Plagiocephaly OMIM:618792
Wiedemann-Steiner Syndrome
Decreased response to growth hormone stimulation test, Short nose, Wide nasal bridge ORPHA:319182
X-Linked Intellectual Disability Due To Gria3 Mutations
Brachycephaly ORPHA:364028
Achondrogenesis, Type Ii
Brachycephaly, Frontal bossing OMIM:200610
Teebi-Shaltout Syndrome
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae OMIM:272950
Acrofrontofacionasal Dysostosis
Brachycephaly ORPHA:1784
Linear Nevus Sebaceus Syndrome
Prominent occiput, Plagiocephaly, Biparietal narrowing, Frontal bossing ORPHA:2612
Limb Body Wall Complex
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Encephalocele, Shor... ORPHA:2369
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Narrow naris, Anteverted nares, Pseud... OMIM:617157
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Wide nasal bridge, Hypoplasia of the thymus, Recurrent upper respiratory tract infections, Crypto... OMIM:612541
Skin Creases, Congenital Symmetric Circumferential, 2
Wide nasal bridge, Small scrotum, Depressed nasal bridge, Cryptorchidism, Hypospadias OMIM:616734
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Plagiocephaly, Flat occiput ORPHA:300570
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Wide nasal bridge, Depressed nasal tip OMIM:619306
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Short nose OMIM:200995
Angelman Syndrome
Brachycephaly, Flat occiput OMIM:105830
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Frontal bossing ORPHA:85199
49,Xxxxy Syndrome
Brachycephaly, Holoprosencephaly ORPHA:96264
Plaa-Associated Neurodevelopmental Disorder
Short nose ORPHA:521426
Cutis Laxa, Autosomal Recessive, Type Ic
Wide nasal bridge, Hypoplasia of the thymus, Adrenal hypoplasia, Umbilical hernia OMIM:613177
Trisomy 9P
Brachycephaly ORPHA:236
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Plagiocephaly ORPHA:457193
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Wide nasal bridge, Small scrotum, Depressed nasal bridge, Triangular nasal tip, Hypogonadism, Dec... OMIM:309580
Anauxetic Dysplasia 3
Plagiocephaly OMIM:618853
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Plagiocephaly OMIM:618644
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Wide nasal bridge, Bulbous nose, Broad nasal tip, Depressed nasal bridge ORPHA:466943
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Flared nostrils, Wide nasal bridge, Bulbous nose, Abnormality of the endocrine system, Hypospadias ORPHA:487796
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Wide nasal bridge, Prominent nasolabial fold OMIM:301110
Noonan Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Cryptorchidism OMIM:605275
Warburg Micro Syndrome 4
Brachycephaly OMIM:615663
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Oxycephaly, Trigonocephaly, Scaphocephaly,... OMIM:614188
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly ORPHA:2063
Bohring-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Cholelithiasis, Annular pancreas, Anteverted nares ORPHA:97297
Okur-Chung Neurodevelopmental Syndrome
Wide nasal bridge, Anteverted nares, Umbilical hernia OMIM:617062
1P36 Deletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Annular pancreas, Abnormal fema... ORPHA:1606
Cornelia De Lange Syndrome
Choanal atresia, Depressed nasal bridge, Abnormality of the uterus, Anteverted nares, Cryptorchid... ORPHA:199
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:536467
Dihydropyrimidinase Deficiency
Plagiocephaly OMIM:222748
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anteverted nares, Hydrocele testis, Short nose ORPHA:280633
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Wide nasal bridge, Depressed nasal bridge, Bifid scrotum, Sept... OMIM:270400
Beck-Fahrner Syndrome
Brachycephaly OMIM:618798
Duane Retraction Syndrome
Wide nasal bridge, Spina bifida occulta, Anteverted nares ORPHA:233
Smith-Lemli-Opitz Syndrome
Wide nasal bridge, Choanal atresia, Clitoral hypertrophy, Anteverted nares, Cryptorchidism, Ambig... ORPHA:818
Hereditary Orotic Aciduria
Wide nasal bridge ORPHA:30
Neonatal Marfan Syndrome
Wide nasal bridge, Decreased testicular size ORPHA:284979
Maternal Phenylketonuria
Wide nasal bridge, Anteverted nares, Deviated nasal septum ORPHA:2209
Branchiooculofacial Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Low posterior h... OMIM:113620
Cree Impaired Intellectual Development Syndrome
Brachycephaly OMIM:606851
Toriello-Carey Syndrome
Cryptorchidism, Short nose ORPHA:3338
Congenital Disorder Of Glycosylation, Type Iit
Brachycephaly OMIM:618885
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces... ORPHA:99826
Degcags Syndrome
Prominent nose, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Chordee, Ambiguous geni... OMIM:619488
Cleidocranial Dysplasia
Spina bifida occulta, Brachycephaly, Frontal bossing ORPHA:1452
Oculoectodermal Syndrome
Wide nasal bridge, Depressed nasal bridge, Pineal cyst, Supernumerary nipple OMIM:600268
Ctcf-Related Neurodevelopmental Disorder
Broad nasal tip, Anteverted nares, Short columella, Cryptorchidism, Phimosis, Hypoplastic labia m... ORPHA:363611
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Wide nasal bridge, Hypospadias, Spina bifida ORPHA:508498
3P25.3 Microdeletion Syndrome
Brachycephaly ORPHA:435638
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly OMIM:619680
Renpenning Syndrome 1
Wide nasal bridge, Decreased testicular size, Bulbous nose, Phimosis, Low hanging columella, Hypo... OMIM:309500
Peters Plus Syndrome
Depressed nasal bridge, Umbilical hernia, Congenital hypothyroidism, Anteverted nares, Short colu... ORPHA:709
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Short columella, Cryptorchidism, Short nose, Umbilical hernia OMIM:601776
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Cholelithiasis, Pancreatic hypoplasia, Underdeveloped nasal alae, Cryptorchidi... ORPHA:83617
15Q Overgrowth Syndrome
Wide nasal bridge ORPHA:314585
Blomstrand Lethal Chondrodysplasia
Depressed nasal bridge, Anteverted nares, Short nose ORPHA:50945
Multiple Pterygium-Malignant Hyperthermia Syndrome
Dolichocephaly, Plagiocephaly ORPHA:2215
Schimmelpenning-Feuerstein-Mims Syndrome
Cranial asymmetry OMIM:163200
Aspartylglucosaminuria
Wide nasal bridge, Macroorchidism, Short nose, Umbilical hernia ORPHA:93
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Wide nasal bridge, Bifid scrotum, Bulbous nose, Anteverted nares, Depressed nasal tip, Delayed pu... OMIM:619475
Frontometaphyseal Dysplasia 1
Wide nasal bridge OMIM:305620
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Frontal bossing OMIM:617193
Genitopatellar Syndrome
Wide nasal bridge, Small scrotum, Clitoral hypertrophy, Prominent nose, Enlarged labia minora, Pr... OMIM:606170
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Pancreatic cysts, Umbilical hernia OMIM:266920
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Prominent nasal tip, Short nose ORPHA:522077
Momo Syndrome
Brachycephaly, Frontal bossing ORPHA:2563
Femoral-Facial Syndrome
Underdeveloped nasal alae, Encephalocele, Cryptorchidism, Hypoplastic labia majora, Maternal diab... OMIM:134780
Molybdenum Cofactor Deficiency, Type A
Short nose OMIM:252150
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Wide nasal bridge, Cyst of the ductus choledochus, Broad nasal tip, Spina bifida OMIM:619480
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Craniosynostosis, Brachycephaly, Frontal bossing, Hydrocephalus OMIM:245600
Osteogenesis Imperfecta, Type Xi
Brachycephaly OMIM:610968
Intellectual Developmental Disorder, Autosomal Dominant 53
Brachycephaly, Posterior plagiocephaly OMIM:617798
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Wide nasal bridge, Prominent nose, Underdeveloped nasal alae ORPHA:90024
Coffin-Lowry Syndrome
Thick nasal septum, Broad columella, Thick nasal alae, Anteverted nares, Uterine prolapse, Short ... OMIM:303600
Arterial Tortuosity Syndrome
Short nose ORPHA:3342
Penile Agenesis
Depressed nasal bridge, Cryptorchidism, Ambiguous genitalia, Maternal diabetes, Absent penis, Sho... ORPHA:49
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wide nasal bridge, Depressed nasal bridge, Spinal dysraphism, External genital hypoplasia, Large ... ORPHA:96334
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly OMIM:619244
Doors Syndrome
Wide nasal base, Wide nasal bridge, Broad nasal tip, Bulbous nose, Congenital hypothyroidism, Sir... ORPHA:79500
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Small scrotum, Broad nasal tip, Umbilical hernia, Prominent nasal tip, Short nose OMIM:620330
Joubert Syndrome 1
Occipital myelomeningocele, Plagiocephaly OMIM:213300
Hermansky-Pudlak Syndrome 2
Wide nasal bridge OMIM:608233
48,Xxxy Syndrome
Brachycephaly ORPHA:96263
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Cardiospondylocarpofacial Syndrome
Wide nasal bridge, Decreased testicular size, Anteverted nares, Bulbous nose, Hypoplastic nasal tip OMIM:157800
Osteopathia Striata With Cranial Sclerosis
Wide nasal bridge, Spina bifida occulta OMIM:300373
C Syndrome
Depressed nasal bridge, Anteverted nares, Female pseudohermaphroditism, Cryptorchidism, Short nose ORPHA:1308
Geleophysic Dysplasia 1
Wide nasal bridge, Anteverted nares, Short nose OMIM:231050
Okamoto Syndrome
Wide nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Bifid ute... ORPHA:2729
Saethre-Chotzen Syndrome
Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:794
Acrodysostosis 1 With Or Without Hormone Resistance
Brachycephaly, Hydrocephalus, Calvarial hyperostosis OMIM:101800
Oculodentodigital Dysplasia, Autosomal Recessive
Brachycephaly, Frontal bossing OMIM:257850
Ayme-Gripp Syndrome
Wide nasal bridge, Depressed nasal bridge, Short nose OMIM:601088
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachycephaly OMIM:614800
Mullegama-Klein-Martinez Syndrome
Wide nasal bridge, Bulbous nose, Prominent nose, Depressed nasal bridge OMIM:301022
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:610759
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Plagiocephaly, Turricephaly OMIM:620224
Zttk Syndrome
Wide nasal bridge, Depressed nasal bridge, Absent gallbladder, Short nose OMIM:617140
Fucosidosis
Brachycephaly ORPHA:349
Feingold Syndrome 1
Wide nasal bridge, Depressed nasal tip, Annular pancreas, Anteverted nares OMIM:164280
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose ORPHA:505248
White-Sutton Syndrome
Brachycephaly OMIM:616364
1P21.3 Microdeletion Syndrome
Broad nasal tip, Short nose ORPHA:293948
Kleefstra Syndrome 1
Brachycephaly OMIM:610253
Orofaciodigital Syndrome Type 1
Wide nasal bridge, Choanal atresia, Pancreatic cysts, Underdeveloped nasal alae ORPHA:2750
Wolf-Hirschhorn Syndrome
Wide nasal bridge, Hypospadias, Cryptorchidism ORPHA:280
Sponastrime Dysplasia
Precocious puberty, Depressed nasal bridge, Anteverted nares, Aplasia of the nasal bone, Hypothyr... ORPHA:93357
7Q31 Microdeletion Syndrome
Plagiocephaly ORPHA:251061
Martsolf Syndrome 1
Brachycephaly OMIM:212720
Mucopolysaccharidosis Type 2, Severe Form
Wide nasal bridge, Recurrent upper respiratory tract infections, Umbilical hernia, Increased size... ORPHA:217085
Spondylocarpotarsal Synostosis Syndrome
Anteverted nares, Broad nasal tip, Short nose OMIM:272460
Hellp Syndrome
Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Plagiocephaly, Brachycephaly, Hydrocephalus, Aqueductal stenosis, Frontal bossing OMIM:619512
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Plagiocephaly OMIM:615471
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly ORPHA:2916
Alpha-Mannosidosis, Infantile Form
Cranial hyperostosis, Umbilical hernia, Thickened calvaria, Brachycephaly, Craniosynostosis, Comm... ORPHA:309282
Mucopolysaccharidosis Type 2, Attenuated Form
Wide nasal bridge, Recurrent upper respiratory tract infections, Umbilical hernia, Increased size... ORPHA:217093
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Anteverted nares, Hypothyroidism, Hypospad... ORPHA:444077
Dysostosis, Stanescu Type
Brachycephaly ORPHA:1798
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Brachycephaly ORPHA:371428
Abnormal Hair, Joint Laxity, And Developmental Delay
Plagiocephaly OMIM:261990
Khan-Khan-Katsanis Syndrome
Short nose OMIM:618460
Shprintzen Omphalocele Syndrome
Flared nostrils, Short columella, Wide nasal bridge OMIM:182210
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Wide nasal base, Choanal atresia, Wide nasal bridge, Flared nostrils, Depressed nasal bridge, Pro... ORPHA:480880
Geleophysic Dysplasia 2
Short nose OMIM:614185
Opitz-Kaveggia Syndrome
Plagiocephaly, Frontal bossing, Hydrocephalus, Umbilical hernia OMIM:305450
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Wide nasal bridge, Chordee, Anteverted nares, Phimosis OMIM:620455
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Dolichocephaly, Plagiocephaly, Umbilical hernia ORPHA:1101
Syndromic Diarrhea
Wide nasal bridge, Hypoplasia of the thymus, Hypothyroidism ORPHA:84064
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Wide nasal bridge, Supernumerary nipple ORPHA:1071
Superficial Siderosis
Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage ORPHA:247245
Mucopolysaccharidosis Type 2
Wide nasal bridge, Recurrent upper respiratory tract infections, Wide nose, Umbilical hernia ORPHA:580
Williams Syndrome
Precocious puberty, Wide nasal bridge, Cholelithiasis, Umbilical hernia, Type II diabetes mellitu... ORPHA:904
Frontometaphyseal Dysplasia
Wide nasal bridge, Spina bifida occulta ORPHA:1826
Metaphyseal Chondrodysplasia, Jansen Type
Brachycephaly OMIM:156400
Acrofrontofacionasal Dysostosis 1
Wide nasal bridge OMIM:201180
Den Hoed-De Boer-Voisin Syndrome
Brachycephaly OMIM:619229
Congenital Disorder Of Glycosylation, Type Iia
Brachycephaly OMIM:212066
Roberts-Sc Phocomelia Syndrome
Wide nasal bridge, Clitoral hypertrophy, Long penis, Underdeveloped nasal alae, Narrow naris, Enl... OMIM:268300
Cranioectodermal Dysplasia 2
Wide nasal bridge, Depressed nasal bridge, Bile duct proliferation OMIM:613610
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Wide nasal bridge, Depressed nasal bridge ORPHA:447997
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Wide nasal bridge, Small scrotum, Occipital meningocele, Cryptorchidism, Anteriorly displaced gen... OMIM:276820
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Anteverted nares, Short nose, Narrow nose OMIM:301044
Skin Creases, Congenital Symmetric Circumferential, 1
Brachycephaly OMIM:156610
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nasal bridge, Anteverted nares, Wide nose ORPHA:2526
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly OMIM:615656
Kabuki Syndrome 1
Wide nasal bridge, Anoperineal fistula, Congenital hypothyroidism, Depressed nasal tip, Cryptorch... OMIM:147920
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge ORPHA:989
9Q33.3Q34.11 Microdeletion Syndrome
Brachycephaly, Plagiocephaly ORPHA:495818
7Q11.23 Microduplication Syndrome
Dolichocephaly, Brachycephaly, Craniosynostosis, Hydrocephalus ORPHA:96121
Hennekam Syndrome
Wide nasal bridge, Depressed nasal bridge ORPHA:2136
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Plagiocephaly ORPHA:496641
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Brachycephaly ORPHA:456312
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thickened calvaria, Brachycephaly OMIM:309583
Monosomy 22Q13.3
Wide nasal bridge, Bulbous nose, Umbilical hernia ORPHA:48652
Primrose Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Anteverted ... OMIM:259050
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Hypertension, Internal hemorrhage, Noncommunicating hydrocephalus ORPHA:805
Fibrochondrogenesis
Plagiocephaly ORPHA:2021
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, Oxycephaly, Bicoronal ... OMIM:218600
Diamond-Blackfan Anemia
Wide nasal bridge, Depressed nasal bridge, Hypospadias ORPHA:124
Adnp Syndrome
Trigonocephaly, Brachycephaly, Plagiocephaly, Umbilical hernia ORPHA:404448
Neurofaciodigitorenal Syndrome
Brachycephaly, Plagiocephaly ORPHA:2673
Distal Deletion 3P
Brachycephaly, Umbilical hernia ORPHA:1620
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Wolf-Hirschhorn Syndrome
Precocious puberty, Wide nasal bridge, Cryptorchidism, Aplasia of the uterus, Convex nasal ridge,... OMIM:194190
Trichohepatoneurodevelopmental Syndrome
Brachycephaly, Plagiocephaly OMIM:618268
De Barsy Syndrome
Brachycephaly, Umbilical hernia ORPHA:2962
Yellow Fever
Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Excessive bleeding after a ... ORPHA:99829
Simpson-Golabi-Behmel Syndrome, Type 1
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Supernumerary nipple, Anteverted nar... OMIM:312870
White-Sutton Syndrome
Brachycephaly ORPHA:468678
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Depressed nasal bridge, Decreased response to growth hormone stimulation t... OMIM:619503
Cleidocranial Dysplasia 1
Wide nasal bridge, Depressed nasal bridge OMIM:119600
Loeys-Dietz Syndrome 5
Dolichocephaly, Brachycephaly OMIM:615582
Weill-Marchesani Syndrome 1
Brachycephaly, Broad skull OMIM:277600
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Wide nasal bridge OMIM:619714
Cranioectodermal Dysplasia 1
Wide nasal bridge, Anteverted nares OMIM:218330
Multicentric Osteolysis, Nodulosis, And Arthropathy
Brachycephaly, Frontal bossing OMIM:259600
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilateral cryptorchidism, Ant... OMIM:616462
Cartilage-Hair Hypoplasia
Brachycephaly OMIM:250250
Cornelia De Lange Syndrome 6
Anteverted nares, Short nose OMIM:620568
Chromosome 1P36 Deletion Syndrome, Distal
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Congenital hypothyroidism, Cryp... OMIM:607872
Orofaciodigital Syndrome Type 2
Wide nasal bridge, Hypoplastic male external genitalia ORPHA:2751
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f... OMIM:101400
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal ridge, Depressed nasal bridge, Enlarged naris, Concave nasal ridge, Short nose OMIM:271665
Monosomy 13Q14
Wide nasal bridge, Prominent nasal bridge ORPHA:1587
Wrinkly Skin Syndrome
Wide nasal bridge, Cryptorchidism, Umbilical hernia OMIM:278250
15q26 overgrowth syndrome
Wide nasal bridge, Bulbous nose, Prominent nose DECIPHER:81
Intellectual Developmental Disorder, Autosomal Dominant 29
Brachycephaly, Frontal bossing OMIM:616078
Cleidocranial Dysplasia 2
Plagiocephaly OMIM:620099
Craniotubular Dysplasia, Ikegawa Type
Wide nasal bridge, Anteverted nares OMIM:619727
Trichorhinophalangeal Syndrome, Type Ii
Wide nasal bridge, Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Hydrom... OMIM:150230
Mowat-Wilson Syndrome
Wide nasal bridge, Bifid scrotum, Supernumerary nipple, Cryptorchidism, Prominent nasal tip, Low ... OMIM:235730
Carey-Fineman-Ziter Syndrome 1
Plagiocephaly OMIM:254940
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Brachycephaly, Plagiocephaly OMIM:301072
Weill-Marchesani Syndrome 2
Brachycephaly, Umbilical hernia, Broad skull OMIM:608328
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Wide nasal bridge OMIM:130070
Atelosteogenesis Type Ii
Plagiocephaly ORPHA:56304
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test, Hypospadias, Wide nasal bridge OMIM:180500
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly OMIM:608980
Pallister-Killian Syndrome
Wide nasal bridge, Small scrotum, Depressed nasal bridge, Supernumerary nipple, Umbilical hernia,... OMIM:601803
Stickler Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Short nose ORPHA:828
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Absent gallbladder, Short nose ORPHA:500150
Williams-Beuren Syndrome
Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Anteverted nares, Early onset of sexua... OMIM:194050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Plagiocephaly OMIM:618548
Lipodystrophy, Familial Partial, Type 7
Narrow nasal ridge, Type I diabetes mellitus, Short nose OMIM:606721
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Brachycephaly, Frontal bossing, Decreased calvarial ossification OMIM:617925
Arthrogryposis And Ectodermal Dysplasia
Brachycephaly OMIM:601701
Mowat-Wilson Syndrome
Webbed penis, Wide nasal bridge, Broad columella, Bifid scrotum, Septate vagina, Depressed nasal ... ORPHA:2152
Keutel Syndrome
Wide nasal bridge, Depressed nasal bridge, Cartilaginous ossification of nose OMIM:245150
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly, Hydrocephalus ORPHA:457284
Congenital Disorder Of Glycosylation, Type Iim
Wide nasal bridge, Vesicovaginal fistula OMIM:300896
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Wide nasal bridge, Anteverted nares, Hypospadias OMIM:220111
Hallermann-Streiff Syndrome
Brachycephaly, Frontal bossing ORPHA:2108
Cornelia De Lange Syndrome 1
Brachycephaly OMIM:122470
Frank-Ter Haar Syndrome
Brachycephaly, Flat occiput OMIM:249420
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Plagiocephaly ORPHA:1521
Congenital Fibrosis Of Extraocular Muscles
Plagiocephaly ORPHA:45358
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Wide nasal bridge, Bifid scrotum, Septate vagina, Depressed nasal tip, Cryptorchidi... ORPHA:261537
Branchioskeletogenital Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly, Umbilical hernia ORPHA:1299
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Thrombocytopenia-Absent Radius Syndrome
Brachycephaly, Spina bifida OMIM:274000
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Plagiocephaly OMIM:620083
Chilton-Okur-Chung Neurodevelopmental Syndrome
Posterior plagiocephaly, Plagiocephaly, Dolichocephaly, Communicating hydrocephalus, Frontal bossing OMIM:619841
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Brachycephaly OMIM:618223
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Wide nasal bridge, Bifid scrotum, Septate vagina, Depressed nasal tip, Cryptorchidi... ORPHA:261552
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypoplastic sweat glands, Wide nasal bridge ORPHA:73223
Osteopetrosis With Renal Tubular Acidosis
Thickened calvaria, Brachycephaly, Plagiocephaly ORPHA:2785
Hunter-Macdonald Syndrome
Brachycephaly, Umbilical hernia OMIM:611962
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Brachycephaly OMIM:616263
Arboleda-Tham Syndrome
Craniosynostosis, Plagiocephaly, Frontal bossing OMIM:616268
Distal Deletion 12Q
Brachycephaly, Frontal bossing ORPHA:96149
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Frontal bossing ORPHA:2538
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Bruising susceptibility, Umbilical hernia, Abnormal heart valve morphology, Tr... ORPHA:286
Kbg Syndrome
Brachycephaly OMIM:148050
Congenital Disorder Of Deglycosylation 1
Brachycephaly OMIM:615273
Common Variable Immunodeficiency
Brachycephaly ORPHA:1572
Turnpenny-Fry Syndrome
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:618371
Osteogenesis Imperfecta
Umbilical hernia, Prominent occiput, Brachycephaly, Hydrocephalus, Noncommunicating hydrocephalus ORPHA:666
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachycephaly OMIM:263520
Congenital Myopathy 13
Brachycephaly OMIM:255995
Aicardi Syndrome
Plagiocephaly ORPHA:50
Cog1-Cdg
Wide nasal bridge ORPHA:263508
Roberts Syndrome
Craniosynostosis, Brachycephaly ORPHA:3103
6Q Terminal Deletion Syndrome
Dolichocephaly, Plagiocephaly ORPHA:75857
14Q22Q23 Microdeletion Syndrome
Brachycephaly ORPHA:264200
Coffin-Siris Syndrome 1
Plagiocephaly, Umbilical hernia, Brachycephaly, Spina bifida occulta, Frontal bossing OMIM:135900
Chime Syndrome
Brachycephaly ORPHA:3474
Wiedemann-Rautenstrauch Syndrome
Thickened calvaria, Frontal bossing, Hydrocephalus, Cranial asymmetry ORPHA:3455
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Brachycephaly, Prominent occiput, Frontal bossing, Turricephaly OMIM:612474
Mandibuloacral Dysplasia Progeroid Syndrome
Brachycephaly, Frontal bossing OMIM:619127
Wiedemann-Rautenstrauch Syndrome
Brachycephaly, Parietal bossing, Frontal bossing, Hydrocephalus OMIM:264090
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Brachycephaly, Hydrocephalus ORPHA:2072
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Thickened calvaria, Plagiocephaly, Frontal bossing ORPHA:466791
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Plagiocephaly, Hydrocephalus ORPHA:3042
Aicardi-Goutières Syndrome
Plagiocephaly ORPHA:51
Faundes-Banka Syndrome
Plagiocephaly, Frontal bossing OMIM:619376
Down Syndrome
Brachycephaly OMIM:190685
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Brachycephaly OMIM:265380
X-Linked Intellectual Disability, Armfield Type
Brachycephaly ORPHA:85276
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Brachycephaly OMIM:610442
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Craniosynostosis, Brachycephaly, Frontal bossing, Cloverleaf skull OMIM:201750
Viss Syndrome
Dolichocephaly, Brachycephaly, Frontal bossing, Umbilical hernia OMIM:619472
Liver Disease, Severe Congenital
Plagiocephaly, Umbilical hernia OMIM:619991
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Brachycephaly, Plagiocephaly OMIM:607932
Aspartylglucosaminuria
Thickened calvaria, Brachycephaly OMIM:208400
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Plagiocephaly OMIM:613355

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gtf2i

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gtf2i.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A conditional knockout resource for the genome-wide study of mouse gene function. Nature (June 2011) Gtf2itm1a(KOMP)Wtsi PMC3572410

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gtf2itm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gtf2itm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gtf2itm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gtf2itm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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