Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gtf2i mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gtf2i by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Williams Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Urethral stenosis, Functional abnormality of male... ORPHA:904

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Falls, Apathy, Shuffling gait, Bradykinesia, Short stepped shuf... ORPHA:412066
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Fryns Microphthalmia Syndrome
Facial cleft, Neural tube defect OMIM:600776
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Anxiety, Depression OMIM:159900
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impai... ORPHA:401901
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Anteverted nares OMIM:601163
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Anxiety, Depression OMIM:605909
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Wide nasal bridge OMIM:209970
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Geniospasm 1
Anxiety OMIM:190100
Huntington Disease-Like 1
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Wide nasal bridge ORPHA:2007
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Chromosome 18P Deletion Syndrome
Wide nasal bridge, Micropenis, Anteverted nares, Cryptorchidism, Decreased testicular size, Gonad... OMIM:146390
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Ventricular septal defect, Facial cleft OMIM:601357
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation ORPHA:1296
3Q13 Microdeletion Syndrome
Anteverted nares, Cryptorchidism, Hypoplasia of penis, Wide nasal bridge ORPHA:1621
Ohdo Syndrome, X-Linked
Prominent nose, Depressed nasal bridge, Wide nasal bridge, Bulbous nose, Cryptorchidism OMIM:300895
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Short nose, Wide nas... OMIM:305400
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Deafness, X-Linked 7
Wide nasal bridge OMIM:301018
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Wide nasal bridge, Hypergonadotropic hypogonadism ORPHA:2229
Anophthalmia Plus Syndrome
Spina bifida, Facial cleft ORPHA:1104
17Q21.31 Microduplication Syndrome
Anteverted nares, Short nose, Delayed puberty ORPHA:217340
Fg Syndrome 4
Wide nasal bridge OMIM:300422
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Thick nasal alae, Broad nasal tip, Wide nasal bridge OMIM:618147
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Trisomy 18-Like Syndrome
Wide nasal bridge OMIM:601161
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
Broad nasal tip, Wide nasal bridge OMIM:600093
Steel Syndrome
Wide nasal bridge OMIM:615155
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Dystonia 26, Myoclonic
Torticollis, Laryngeal dystonia, Depression, Anxiety, Blepharospasm OMIM:616398
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Wide nasal bridge, Anteverted nares, Decreased response to gr... OMIM:616430
Rhiny
Anteverted nares, Short nose OMIM:180360
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose ORPHA:2015
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Hypogonadism, Short nasal septum, Anosmia OMIM:302950
Deafness-Craniofacial Syndrome
Underdeveloped nasal alae, Wide nasal bridge OMIM:125230
Burn-Mckeown Syndrome
Prominent nasal bridge, Bilateral choanal atresia, Short nose, Wide nasal bridge ORPHA:1200
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Wide nose, Short nose, Decreased circulating osteocalcin level OMIM:125700
Non-Distal Trisomy 10Q
Convex nasal ridge, Cryptorchidism, Short nose, Depressed nasal bridge ORPHA:1695
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Depressed nasal bridge, Wide nasal bridge OMIM:609528
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Facial cleft, Webbed ne... ORPHA:99776
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge OMIM:618302
Ectodermal Dysplasia 13, Hair/Tooth Type
Depressed nasal bridge, Wide nasal bridge OMIM:617392
Mental Retardation, Autosomal Recessive 45
Wide nasal bridge OMIM:615979
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Short nose, Depressed nasal bridge OMIM:614069
49,Xxxyy Syndrome
External genital hypoplasia, Wide nasal bridge, Increased circulating gonadotropin level, Micrope... ORPHA:261534
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Anteverted nares, Wide nasal bridge OMIM:619311
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Wide nasal bridge ORPHA:3207
Acrofacial Dysostosis, Catania Type
Facial cleft, Intrauterine growth retardation, Short stature, Webbed neck, Spina bifida occulta ORPHA:1786
Ohdo Syndrome
Depressed nasal bridge, Short nose, Wide nasal bridge, Anteverted nares, Cryptorchidism OMIM:249620
Retinitis Pigmentosa
Type II diabetes mellitus, Wide nasal bridge, Hypogonadism, Abnormal testis morphology, Anteverte... ORPHA:791
Lamb-Shaffer Syndrome
Bulbous nose, Depressed nasal bridge, Wide nasal bridge OMIM:616803
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Anxie... ORPHA:168782
Filippi Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Low hanging columella, Ambiguous genitalia, Cryptor... OMIM:272440
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Cofs Syndrome
Hypogonadism, Wide nasal bridge, Abnormal nasal morphology ORPHA:1466
Aminoacylase 1 Deficiency
Wide nasal bridge OMIM:609924
Mosaic Trisomy 14
Hypospadias, Prominent nasal bridge, Wide nasal bridge, Anteverted nares, Cryptorchidism, Hypopla... ORPHA:1703
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly OMIM:612247
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Micropenis, Short nose, Wide nasal bridge OMIM:601224
Intellectual Disability, Wolff Type
Hypospadias, Cryptorchidism, Bulbous nose, Wide nasal bridge ORPHA:3080
Acrofacial Dysostosis, Weyers Type
Mild short stature, Facial cleft, Advanced eruption of teeth ORPHA:952
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Mental Retardation, X-Linked 91
Short nose OMIM:300577
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal heart morphology, Facial cleft OMIM:239800
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Broad nasal tip, Wide nasal bridge OMIM:615524
Maxillonasal Dysplasia, Binder Type
Short columella, Short nose, Depressed nasal bridge OMIM:155050
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Depressed nasal bridge, Wide nasal bridge, Concav... OMIM:122860
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Depressed nasal bridge, Short nose, Micropenis, Adrenal hypoplasia, Cryptorchidism, ... OMIM:614732
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Triopia
Midline facial cleft ORPHA:3374
Supernumerary Nostril
Facial cleft ORPHA:141096
Craniodiaphyseal Dysplasia
Depressed nasal bridge, Wide nasal bridge ORPHA:1513
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism, Short nose, Depressed nasal bridge OMIM:616910
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micropenis, Wide nasal bridge, Cryptorchidism OMIM:612626
Alazami Syndrome
Wide nose, Depressed nasal bridge, Wide nasal bridge OMIM:615071
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Wide nasal bridge OMIM:617930
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Wide nasal bridge, Neonatal death OMIM:224410
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Anteverted nares, Wide nasal bridge, Depressed nasal bridge, Delayed puberty ORPHA:1825
17P13.3 Microduplication Syndrome
Short nose, Wide nose, Hypoplasia of penis ORPHA:217385
Perlman Syndrome
Short nose, Wide nasal bridge, Anteverted nares, Abnormal pancreas morphology, Cryptorchidism, Hy... ORPHA:2849
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Broad nasal tip, Wide nasal bridge ORPHA:73273
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Wide nasal bridge, Short columella, Umbilical hernia, Enlarged naris OMIM:616266
Mental Retardation, Autosomal Dominant 43
Wide nasal bridge, Prominent nasal bridge OMIM:616977
Perry Syndrome
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... OMIM:168605
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge OMIM:618379
Megalencephaly
Macroorchidism, Wide nasal bridge, Long penis ORPHA:2477
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Depressed nasal bridge, Short nose, Short columella, Micropenis, Anteverted nares, C... ORPHA:171839
Autosomal Dominant Omodysplasia
Bifid scrotum, Depressed nasal bridge, Short nose, Ambiguous genitalia, Cryptorchidism, Hypoplasi... ORPHA:93328
Oculomaxillofacial Dysostosis
Facial cleft, Short stature ORPHA:1794
Orofaciodigital Syndrome Xi
Bulbous nose, Wide nasal bridge OMIM:612913
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Depressed nasal ridge, Short nose ORPHA:1832
Isolated Plagiocephaly
Plagiocephaly, Midface retrusion, Frontal bossing ORPHA:35098
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Wide nasal bridge, Anteverted nares, Cryptorchidism, Hypoplastic female external geni... OMIM:618577
Pontocerebellar Hypoplasia Type 10
Underdeveloped nasal alae, Wide nasal bridge ORPHA:411493
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Short nose, Micropenis, Anteverted nares, Cryptorchidism, Umbilical hernia OMIM:616331
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Ring Chromosome 6 Syndrome
Wide nasal bridge ORPHA:1448
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anteverted nares, Short nose, Depressed nasal bridge, Hypothyroidism OMIM:613038
Oculocerebrocutaneous Syndrome
Facial cleft, Hydrocephalus ORPHA:1647
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Wide nasal bridge, Anteverted nares, Cryptorchidism, Umbilical hernia ORPHA:352490
Velo-Facial-Skeletal Syndrome
Wide nasal bridge ORPHA:3424
Intellectual Developmental Disorder, X-Linked 104
Bifid nasal tip, Wide nasal bridge OMIM:300983
Kahrizi Syndrome
Bulbous nose, Wide nasal bridge OMIM:612713
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Prominent nasal bridge, Bulbous... ORPHA:3063
Distal Trisomy 18Q
Short nose, Prominent nasal bridge, Choanal atresia, Anteverted nares, Cryptorchidism, Hypoplasia... ORPHA:1716
Parkinson Disease 7, Autosomal Recessive Early-Onset
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia OMIM:606324
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Wide nasal bridge, Depressed nasal tip, Anterior hypopituitarism, Cryptorch... ORPHA:2863
Chung-Jansen Syndrome
Anteverted nares, Cryptorchidism, Short nose OMIM:617991
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Histidinuria Due To A Renal Tubular Defect
Wide nasal bridge OMIM:235830
Pierpont Syndrome
Broad nasal tip, Wide nose, Short nose, Micropenis, Cryptorchidism OMIM:602342
Intellectual Disability-Cataracts-Kyphosis Syndrome
Bulbous nose, Wide nasal bridge ORPHA:171860
Ring Chromosome 1 Syndrome
Anteverted nares, Wide nasal bridge ORPHA:1437
Histidinuria-Renal Tubular Defect Syndrome
Wide nasal bridge ORPHA:2158
Peroxisomal Acyl-Coa Oxidase Deficiency
Depressed nasal bridge, Wide nasal bridge OMIM:264470
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Depressed nasal bridge, Hypoplasia of penis, Wide nasal bridge, Cryptorchidism, Shawl scrotum ORPHA:2256
Warburg Micro Syndrome 1
Anteverted nares, Cryptorchidism, External genital hypoplasia, Wide nasal bridge OMIM:600118
X-Linked Mandibulofacial Dysostosis
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly ORPHA:1131
Acrodysostosis
Depressed nasal ridge, Depressed nasal bridge, Short nose, Wide nasal bridge, Hypogonadism, Crypt... ORPHA:950
Craniofacial Dyssynostosis
Underdeveloped nasal alae, Wide nasal bridge, Umbilical hernia ORPHA:1516
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Cryptorchidism, Short nose, Wide nasal bridge OMIM:615803
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Congenital hypothyroidism, Depressed nasal bridge, Short nose, Diabetes mellitus, An... OMIM:614613
14Q11.2 Microdeletion Syndrome
Short nose, Depressed nasal bridge ORPHA:261120
Spondylometaphyseal Dysplasia, X-Linked
Anteverted nares, Depressed nasal bridge, Wide nasal bridge OMIM:313420
Craniosynostosis 2
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... OMIM:604757
Chromosome 3Pter-P25 Deletion Syndrome
Broad nasal tip, Depressed nasal bridge, Prominent nasal bridge, Wide nasal bridge, Low hanging c... OMIM:613792
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Delayed puberty ORPHA:2598
Tonne-Kalscheuer Syndrome
Hypospadias, Prominent nose, Prominent nasal bridge, Wide nasal bridge, Micropenis, Cryptorchidis... OMIM:300978
Mulibrey Nanism
Wide nasal bridge ORPHA:2576
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Short nose, Anosmia, Abnormali... ORPHA:1295
Frontofacionasal Dysplasia
Facial cleft, Short stature ORPHA:1791
Craniodigital-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Velofacioskeletal Syndrome
Wide nasal bridge, Prominent nasal bridge OMIM:600736
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Wide nasal bridge ORPHA:166024
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Broad nasal tip, Umbilical hernia OMIM:613544
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Short nose ORPHA:1906
Simpson-Golabi-Behmel Syndrome, Type 2
Wide nose, Short nose, Micropenis, Recurrent upper respiratory tract infections, Anteverted nares OMIM:300209
Short Rib-Polydactyly Syndrome
Intrauterine growth retardation, Facial cleft, Abnormal heart morphology, Situs inversus totalis,... ORPHA:1505
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose, Depressed nasal bridge ORPHA:1529
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft OMIM:607597
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Wide nasal bridge, Micropenis, Cryptorchidism, Umbilical hernia ORPHA:2872
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Anteverted nares, Bulbous nose, Depressed nasal bridge, Wide nasal bridge OMIM:600991
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism, Wide nasal bridge OMIM:619595
Monosomy 5P
Wide nasal bridge ORPHA:281
Lissencephaly, X-Linked, 2
Wide nasal bridge, Prominent nasal bridge, Micropenis, Ambiguous genitalia, Decreased testicular ... OMIM:300215
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Disorder Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short nose, Hypogonadism, Spina bifida occulta ORPHA:2983
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Short nose, Short columella, Abnormality of the nares ORPHA:1248
Zimmermann-Laband Syndrome 2
Underdeveloped nasal alae, Prominent nasal septum, Wide nasal bridge, Bifid nasal tip OMIM:616455
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Depressed nasal bridge, Wide nasal bridge, Bulbous nose, Anteverted nares OMIM:615761
Warburg Micro Syndrome 3
Hypoplastic labia minora, Micropenis, Short nose, Decreased testicular size OMIM:614222
Craniosynostosis And Dental Anomalies
Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal craniosynostosis, Scaphocephaly, Turric... OMIM:614188
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Cryptorchidism, Short nose OMIM:615419
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Freeman-Sheldon Syndrome
Underdeveloped nasal alae, Cryptorchidism, Depressed nasal ridge, Wide nasal bridge ORPHA:2053
Peho-Like Syndrome
Short nose OMIM:617507
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Short nose OMIM:300143
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, Wide nasal bridge OMIM:618388
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Cryptorchidism, Short nose, Prominent nasal bridge ORPHA:401935
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Prominent nose, Wide nasal bridge ORPHA:137831
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose ORPHA:2370
Peroxisome Biogenesis Disorder 6A (Zellweger)
Wide nasal bridge OMIM:614870
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Wide nasal bridge, Flared nostrils OMIM:312170
Acrocephalopolydactyly
Depressed nasal ridge, Short nose ORPHA:221054
Isolated Trigonocephaly
Wide nasal bridge ORPHA:3366
Acromelic Frontonasal Dysostosis
Broad nasal tip, Wide nasal bridge, Bifid nose, Hypopituitarism, Cryptorchidism, Bifid nasal tip,... OMIM:603671
Boomerang Dysplasia
Underdeveloped nasal alae, Hypoplastic nasal septum, Wide nasal bridge, Neonatal death OMIM:112310
Distal Monosomy 10P
Convex nasal ridge, Polycystic ovaries, Wide nasal bridge, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Underdeveloped nasal alae, Wide nose, Abnormal nasal bone morphology, Wide nasal bridge, Choanal ... ORPHA:521308
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Wide nasal bridge OMIM:248910
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Micropenis, Wide nasal bridge, Cryptorchidism OMIM:614684
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Spi... OMIM:616602
9P13 Microdeletion Syndrome
External genital hypoplasia, Wide nasal bridge, Anteverted nares, Precocious puberty, Umbilical h... ORPHA:324313
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose ORPHA:969
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Gand Syndrome
Broad nasal tip, Wide nasal bridge OMIM:615074
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose OMIM:617061
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Teebi Hypertelorism Syndrome 1
Depressed nasal bridge, Short nose, Wide nasal bridge, Bicornuate uterus, Shawl scrotum OMIM:145420
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Glutamine Deficiency, Congenital
Depressed nasal bridge, Neonatal death, Short nose, Wide nasal bridge, Anteverted nares OMIM:610015
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Short nose, Depressed nasal bridge OMIM:614744
Joubert Syndrome 37
Wide nose, Wide nasal bridge, Micropenis, Anteverted nares, Cryptorchidism, Decreased testicular ... OMIM:619185
Miller-Dieker Syndrome
Anteverted nares, Short nose ORPHA:531
Clark-Baraitser Syndrome
Short nose, Depressed nasal bridge OMIM:617752
Spastic Paraplegia 47, Autosomal Recessive
Bulbous nose, Wide nasal bridge OMIM:614066
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Bulbous nose, Precocious puberty, Wide nasal bridge OMIM:300958
Blepharonasofacial Malformation Syndrome
Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Wide nose ORPHA:1252
Autosomal Dominant Spondylocostal Dysostosis
Anteverted nares, Spina bifida occulta, Wide nasal bridge, Abnormal morphology of female internal... ORPHA:1797
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Wide nasal bridge OMIM:618342
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Wide nasal bridge OMIM:618067
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Spina bifida occulta, Bi... OMIM:618736
Pterygium Colli, Isolated
Short nose OMIM:177990
Craniofacial-Deafness-Hand Syndrome
Short nose OMIM:122880
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge OMIM:614078
Achondrogenesis
Anteverted nares, Short nose, Umbilical hernia ORPHA:932
Orofaciodigital Syndrome Xv
Anteverted nares, Wide nasal bridge OMIM:617127
Donnai-Barrow Syndrome
Depressed nasal bridge, Short nose, Abnormality of the uterus, Bicornuate uterus, Umbilical hernia ORPHA:2143
Joubert Syndrome 10
Wide nasal bridge OMIM:300804
Dermoid Cysts, Familial Frontonasal
Nasal congestion, Anosmia, Wide nasal bridge, Deviated nasal septum OMIM:600679
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Facial cleft, Hydrocephalus ORPHA:268249
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Wide nasal bridge, Cryptorchidism, Umbilical hernia OMIM:175700
Pallister-Hall-Like Syndrome
Micropenis, Short nose, Depressed nasal bridge, Anterior hypopituitarism OMIM:241800
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Short nose OMIM:613458
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Depressed nasal bridge OMIM:617802
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Wide nasal bridge OMIM:610127
Gorlin Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Wide nasal bridge, Cryptorchidism ORPHA:377
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Short nose, Wide nasal bridge OMIM:611936
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Cryptorchidism, Short nose ORPHA:2701
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Shawl scrotum ORPHA:85277
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
German Syndrome
Cryptorchidism, Ambiguous genitalia, Depressed nasal bridge, Wide nasal bridge ORPHA:2077
Filippi Syndrome
Underdeveloped nasal alae, Wide nose, Prominent nasal bridge, Wide nasal bridge, Broad columella,... ORPHA:3255
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Micropenis, Short nose, Prominent nasal bridge OMIM:613870
Achondrogenesis Type 1B
Anteverted nares, Short nose, Umbilical hernia ORPHA:93298
Mental Retardation, Autosomal Recessive 5
Underdeveloped nasal alae, Wide nasal bridge, Prominent nasal bridge, Prominent nose OMIM:611091
Beemer-Ertbruggen Syndrome
Bulbous nose, Cryptorchidism, Ambiguous genitalia, Wide nasal bridge ORPHA:1237
Pontocerebellar Hypoplasia, Type 7
Micropenis, Ambiguous genitalia, Depressed nasal bridge, Wide nasal bridge OMIM:614969
Aarskog-Scott Syndrome
Wide nasal bridge, Anteverted nares, Cryptorchidism, Shawl scrotum, Umbilical hernia ORPHA:915
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Myelomeningocele, Short nose, Anteverted nares, Choanal atresia ORPHA:1914
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Umbilical hernia ORPHA:380
Fetal Trimethadione Syndrome
Hypospadias, Ambiguous genitalia, Depressed nasal bridge, Short nose ORPHA:1913
Blepharophimosis, Ptosis, And Epicanthus Inversus
Depressed nasal bridge, Amenorrhea, Wide nasal bridge, Increased circulating gonadotropin level, ... OMIM:110100
Achondrogenesis Type 1A
Anteverted nares, Short nose, Umbilical hernia ORPHA:93299
Zimmermann-Laband Syndrome 3
Broad nasal tip, Wide nasal bridge OMIM:618658
Pentasomy X
Wide nasal bridge, Delayed puberty ORPHA:11
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Short nose, Precocious puberty OMIM:619356
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nose, Cryptorchidism, Short nose, Depressed nasal bridge OMIM:613457
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Depressed nasal bridge, Wide nasal bridge, Anteverted nares, Cryptorchidism OMIM:618316
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Wide nasal bridge ORPHA:352530
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Broad nasal tip, Depressed nasal bridge, Wide nasal bridge, Pseudohypoparathyroidism, Anteverted ... OMIM:617157
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Rafiq Syndrome
Underdeveloped nasolabial fold, Prominent nose, Wide nose, Wide nasal bridge, Bulbous nose OMIM:614202
8Q22.1 Microdeletion Syndrome
Depressed nasal ridge, Wide nasal bridge, Hypogonadism, Cryptorchidism, Abnormality of the nares ORPHA:178303
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Depressed nasal bridge, Broad columella OMIM:617865
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Prominent nasal bridge OMIM:300558
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Wide nasal bridge, Cryptorchidism, Shawl scrotum, Umbilical hernia ORPHA:1778
Chromosome 10Q26 Deletion Syndrome
Prominent nose, Convex nasal ridge, Flared nostrils, Wide nasal bridge, Micropenis, Cryptorchidism OMIM:609625
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Wide nasal bridge, Micropenis, Anteverted nares, Hydrocele testis OMIM:618810
Multiple Metaphyseal Dysplasia
Depressed nasal ridge, Wide nasal bridge ORPHA:93430
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Treacher-Collins Syndrome
Branchial fistula, Facial cleft, Patent ductus arteriosus ORPHA:861
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Prominent nasal bridge OMIM:617927
Intellectual Developmental Disorder, Autosomal Recessive 70
Wide nasal bridge OMIM:618402
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the urethra, Short nose ORPHA:2145
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Short nose, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Smith-Kingsmore Syndrome
Cryptorchidism, Short nose, Depressed nasal bridge, Umbilical hernia OMIM:616638
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge OMIM:611209
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose ORPHA:1495
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Depressed nasal bridge, Short nose, Wide nasal bridge, Bulbous nose, Cryptorchidism, Umbilical he... ORPHA:369891
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Prominent nose, Depressed nasal bridge, Wide nasal bridge, Bulbous nose, Anteverted nares ORPHA:2180
Mental Retardation, Buenos Aires Type
Hypospadias, Prominent nose, Wide nasal bridge OMIM:249630
Chromosome 16Q22 Deletion Syndrome
Hypospadias, Cryptorchidism, Depressed nasal bridge, Wide nasal bridge OMIM:614541
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Wide nasal bridge ORPHA:93267
Frontonasal Dysplasia 1
Broad nasal tip, Short columella, Wide nasal bridge, Bifid nose, Bifid nasal tip OMIM:136760
Woods Syndrome
Low hanging columella, Wide nasal bridge, Supernumerary nipple OMIM:615236
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Wide nasal bridge, Hypothyroidism, Cryptorchidism, Hypoplasia of penis, Umbilical ... ORPHA:85321
Hyperphosphatasia With Mental Retardation Syndrome 3
Short nose, Broad nasal tip, Wide nasal bridge OMIM:614207
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, Prominent nasal bridge OMIM:618356
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Underdeveloped nasal alae, Depressed nasal ridge, Wide nasal bridge ORPHA:77300
Chromosome 2P16.1-P15 Deletion Syndrome
Prominent nasal tip, Depressed nasal bridge, Wide nasal bridge, Hypogonadism, Micropenis, Recurre... OMIM:612513
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Short nose, Wide nasal bridge, Broad nasal tip OMIM:618529
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Underdeveloped nasal alae, Recurrent bronchitis, Labial hypoplasia, Wide nose, Wide ... OMIM:619293
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Hypoplasia of penis ORPHA:2547
Zechi-Ceide Syndrome
Underdeveloped nasal alae, Wide nose, Wide nasal bridge OMIM:612916
Developmental Delay With Or Without Dysmorphic Facies And Autism
Narrow nose, Depressed nasal bridge, Umbilical hernia, Short nose, Prominent nasal bridge, Wide n... OMIM:618454
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Wide nasal bridge OMIM:613603
Al-Raqad Syndrome
Short nose OMIM:616459
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Broad nasal tip, Narrow nasal ridge OMIM:137550
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Short nose, Prominent nasolabial fold, Recurrent upper respiratory tract infecti... ORPHA:391372
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Anteverted nares, Spina bifida, Depressed nasal bridge ORPHA:1327
Snijders Blok-Campeau Syndrome
Prominent nose, Wide nasal bridge OMIM:618205
Autosomal Recessive Omodysplasia
Anteverted nares, Cryptorchidism, Short nose, Depressed nasal bridge ORPHA:93329
Prader-Willi-Like Syndrome
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:398073
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, Wide nasal bridge OMIM:314320
Cebalid Syndrome
Anteverted nares, Depressed nasal ridge, Short nose, Depressed nasal bridge OMIM:618774
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Anteverted nares, Short nose, Depressed nasal bridge OMIM:618961
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Charlie M Syndrome
Wide nasal bridge ORPHA:1406
Craniofrontonasal Dysplasia
Hypospadias, Depressed nasal ridge, Wide nasal bridge, Shawl scrotum, Midline defect of the nose ORPHA:1520
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Large fontanelles, Brachycephaly, Exencephaly, Delayed cranial suture closure ORPHA:2211
Glycosylphosphatidylinositol Biosynthesis Defect 11
Wide nasal bridge OMIM:616025
Baraitser-Winter Syndrome 1
Short nose, Wide nasal bridge, Micropenis, Anteverted nares, Cryptorchidism OMIM:243310
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Small scrotum, Short nose, Prominent nasal bridge, Cryptorchidism, Hyp... ORPHA:2083
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Large beaked nose, Wide nasal bridge ORPHA:3369
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal hemorrhage, Atria... ORPHA:90308
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Wide nasal bridge ORPHA:261295
Jung Syndrome
Depressed nasal bridge, Wide nasal bridge, Hypothyroidism ORPHA:2321
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide nasal bridge OMIM:614859
Non-Distal Trisomy 13Q
Cryptorchidism, Short nose ORPHA:1702
3Mc Syndrome 3
Facial cleft, Growth delay, Short stature OMIM:248340
6Q25 Microdeletion Syndrome
External genital hypoplasia, Wide nasal bridge ORPHA:251056
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Wide nasal bridge, Prominent nasal bridge, Low hanging columella, Cryptorchidism OMIM:618659
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Short nose OMIM:613604
Chromosome 8Q21.11 Deletion Syndrome
Wide nasal bridge OMIM:614230
Meckel Syndrome, Type 8
Depressed nasal ridge, Short nose OMIM:613885
Mental Retardation, Autosomal Recessive 13
Wide nasal bridge OMIM:613192
9q subtelomeric deletion syndrome
Anteverted nares, Short nose DECIPHER:52
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Bulbous nose, Short nose, Depressed nasal bridge OMIM:614105
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Wide nasal bridge, Prominent nasal bridge OMIM:619556
Trisomy 18P
Underdeveloped nasal alae, Bilateral cryptorchidism, Wide nasal bridge ORPHA:1715
Wiedemann-Steiner Syndrome
Wide nose, Depressed nasal tip, Wide nasal bridge OMIM:605130
Mental Retardation, Autosomal Dominant 58
Wide nasal bridge OMIM:618106
Congenital Fibrinogen Deficiency
Gingival bleeding, Right ventricular hypertrophy, Prolonged prothrombin time, Tachycardia, Subcut... ORPHA:335
Mullegama-Klein-Martinez Syndrome
Prominent nose, Bulbous nose, Depressed nasal bridge, Wide nasal bridge OMIM:301022
Martin-Probst Syndrome
Hypoplastic nipples, Bifid scrotum, Chordee, Wide nasal bridge, Micropenis, Hypothyroidism, Crypt... OMIM:300519
Fetal Hydantoin Syndrome
Depressed nasal ridge, Cryptorchidism, Short nose, Bifid scrotum ORPHA:1912
Neonatal Adrenoleukodystrophy
Anteverted nares, Wide nasal bridge, Primary adrenal insufficiency ORPHA:44
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge OMIM:617988
Metaphyseal Acroscyphodysplasia
Depressed nasal ridge, Wide nasal bridge ORPHA:1240
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Wide nose, Short nose ORPHA:2831
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia ORPHA:137834
Dermotrichic Syndrome
Short nose, Depressed nasal bridge ORPHA:99688
Rhizomelic Chondrodysplasia Punctata, Type 2
Anteverted nares, Depressed nasal bridge, Wide nasal bridge OMIM:222765
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Atrioventricul... ORPHA:453499
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose OMIM:300887
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Femoral-Facial Syndrome
Short nose, Cryptorchidism, Maternal diabetes, Long penis ORPHA:1988
Bartsocas-Papas Syndrome 1
Short neck, Intrauterine growth retardation, Facial cleft, Patent foramen ovale OMIM:263650
Holoprosencephaly 1
Facial cleft, Short stature, Single ventricle, Ethmocephaly, Alobar holoprosencephaly OMIM:236100
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Short nose, Wide nasal bridge OMIM:618437
Spastic Paraplegia 52, Autosomal Recessive
Prominent nose, Bulbous nose, Wide nasal bridge OMIM:614067
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Short nose ORPHA:1895
20Q11.2 Microduplication Syndrome
Bifid scrotum, Depressed nasal bridge, Short nose, Wide nasal bridge, Micropenis, Abnormal nasal ... ORPHA:363659
Chromosome 19Q13.11 Deletion Syndrome, Distal
Hypospadias, Underdeveloped nasal alae, Bifid scrotum, Short nose, Wide nasal bridge, Anteverted ... OMIM:613026
Hyperphosphatasia With Mental Retardation Syndrome 4
Broad nasal tip, Wide nasal bridge OMIM:615716
Noonan Syndrome 6
Cryptorchidism, Depressed nasal bridge, Wide nasal bridge OMIM:613224
Craniosynostosis 4
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Frontal bossing, Posterior pla... OMIM:600775
Waardenburg-Shah Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Prominent nasal bridge, Abnormality of the nose ORPHA:897
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Testicular torsion, Cryptorchidism, Wide nasal bridge ORPHA:75496
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Anteverted nares, Cryptorchidism, Depressed nasal bridge, Wide nasal bridge ORPHA:163654
Gms Syndrome
Short nose, Depressed nasal bridge OMIM:138770
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Cryptorchidism, Wide nasal bridge ORPHA:98791
8Q12 Microduplication Syndrome
Wide nasal bridge ORPHA:228399
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Intellectual Developmental Disorder, Autosomal Dominant 61
Wide nasal bridge, Prominent nasal bridge OMIM:618009
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Short nose, Depressed nasal bridge, Prominent nasal bridge OMIM:618828
Micro Syndrome
Hypoplastic labia minora, Short nose, Wide nasal bridge, Anteverted nares, Clitoral hypoplasia, C... ORPHA:2510
Verheij Syndrome
Short nose, Wide nasal bridge OMIM:615583
Fraser Syndrome 1
Abnormal heart morphology, Facial cleft, Hydrocephalus, Myelomeningocele OMIM:219000
Cantu Syndrome
Anteverted nares, Wide nasal bridge, Depressed nasal bridge, Umbilical hernia OMIM:239850
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Wide nasal bridge OMIM:218000
Waardenburg Syndrome Type 1
Meningocele, Underdeveloped nasal alae, Short nose, Wide nasal bridge, Spina bifida ORPHA:894
Hamel Cerebro-Palato-Cardiac Syndrome
Bulbous nose, Wide nasal bridge ORPHA:93946
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Wide nasal bridge, Cryptorchidism, Umbilical hernia OMIM:601499
Brachydactyly-Preaxial Hallux Varus Syndrome
Wide nasal bridge ORPHA:1278
Nablus Mask-Like Facial Syndrome
Hypoplastic nipples, Depressed nasal bridge, Labial hypoplasia, Short nose, Wide nasal bridge, Mi... OMIM:608156
Warburg Micro Syndrome 2
Hypoplastic labia majora, Short nose, Prominent nasal bridge, Micropenis, Cryptorchidism OMIM:614225
Pde4D Haploinsufficiency Syndrome
Hypospadias, Prominent nose, Elevated circulating parathyroid hormone level, Prominent nasal tip,... ORPHA:439822
Dandy-Walker Malformation With Postaxial Polydactyly
Depressed nasal bridge, Wide nasal bridge OMIM:220220
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Bulbous nose, Wide nasal bridge ORPHA:261304
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Waardenburg Syndrome, Type 2A
Underdeveloped nasal alae, Wide nasal bridge OMIM:193510
Constricting Bands, Congenital
Ectopia cordis, Facial cleft OMIM:217100
Scarf Syndrome
Hypoplastic nipples, Bifid scrotum, Prominent nasal bridge, Wide nasal bridge, Micropenis, Perine... OMIM:312830
Goldberg-Shprintzen Megacolon Syndrome
Hypospadias, Bifid scrotum, Wide nasal bridge ORPHA:66629
Congenital Neuronal Ceroid Lipofuscinosis
Wide nasal bridge ORPHA:168486
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge OMIM:617333
Microform Holoprosencephaly
Maternal diabetes, Midnasal stenosis, Short nose, Ambiguous genitalia, Panhypopituitarism, Narrow... ORPHA:280200
Congenital Disorder Of Glycosylation, Type Iu
Short nose OMIM:615042
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose ORPHA:228384
Spinocerebellar Ataxia With Dysmorphism
Anteverted nares, Short nose OMIM:271270
Benign Samaritan Congenital Myopathy
Wide nasal bridge ORPHA:324581
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Hypospadias, Shawl scrotum, Wide nasal bridge, Glandular hypospadias ORPHA:2575
Joubert Syndrome 28
Wide nasal bridge OMIM:617121
Kosaki Overgrowth Syndrome
Wide nasal bridge OMIM:616592
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Short nose, Delayed puberty ORPHA:496790
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Coffin-Siris Syndrome 9
Underdeveloped nasal alae, Depressed nasal bridge, Long nose, Short nose, Abnormality of the colu... OMIM:615866
Mulibrey Nanism
Wide nose, Depressed nasal bridge, Wide nasal bridge OMIM:253250
Opitz Gbbb Syndrome, Type I
Hypospadias, Wide nasal bridge, Abnormal nasopharynx morphology, Anteverted nares, Cryptorchidism OMIM:300000
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Short nose, Diabetes mellitus, Hypothyroidism, Anteverted nares, Delayed puberty ORPHA:391408
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Anteverted nares, Wide nose, Short nose, Depressed nasal bridge OMIM:613320
Trisomy 8Q
Myelomeningocele, Wide nasal bridge, Displacement of the urethral meatus, Cryptorchidism, Hypopla... ORPHA:1752
Ruvalcaba Syndrome
Convex nasal ridge, Cryptorchidism, Short nose, Delayed puberty ORPHA:3121
Down Syndrome
Depressed nasal ridge, Type II diabetes mellitus, Depressed nasal bridge, Short nose, Hypothyroid... ORPHA:870
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Depressed nasal bridge, Wide nasal bridge, Triangular nasal tip, Micropenis, Antever... OMIM:141750
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Anteverted nares, Spina bifida occulta ORPHA:1185
Radio-Tartaglia Syndrome
Prominent nasal tip, Depressed nasal bridge, Prominent nasal bridge, Wide nasal bridge, Bulbous n... OMIM:619312
Genitopalatocardiac Syndrome
Hypospadias, Gonadal dysgenesis, male, Wide nasal bridge, Cryptorchidism, Male pseudohermaphroditism ORPHA:2075
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Choanal atresia, Short nose, Depressed nasal bridge ORPHA:284169
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Short nose, Decreased fertility OMIM:234050
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... ORPHA:95699
Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Branchial anomaly, Hydrocephalus, Tetralogy of Fall... ORPHA:2162
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Wide nasal bridge OMIM:601450
Donnai-Barrow Syndrome
Broad nasal tip, Depressed nasal bridge, Short nose, Bicornuate uterus, Umbilical hernia OMIM:222448
Simosa Craniofacial Syndrome
Underdeveloped nasal alae, Depressed nasal tip, Wide nasal bridge, Long nose OMIM:182150
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Short nose, Wide nasal bridge, Anteverted nares, Decreased response to growth ho... OMIM:615873
Codas Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Midline defect of the nose ORPHA:1458
Liang-Wang Syndrome
Wide nasal bridge OMIM:618729
Alg2-Cdg
Wide nasal bridge ORPHA:79326
Man1B1-Cdg
Underdeveloped nasolabial fold, Prominent nose, Wide nose, Wide nasal bridge ORPHA:397941
Craniometaphyseal Dysplasia
Depressed nasal bridge, Wide nasal bridge ORPHA:1522
Harel-Yoon Syndrome
Short nose OMIM:617183
Congenital Disorder Of Glycosylation, Type Id
Bulbous nose, Depressed nasal bridge, Wide nasal bridge OMIM:601110
Lig4 Syndrome
Large beaked nose, Type II diabetes mellitus, Wide nasal bridge, Hypothyroidism, Cryptorchidism, ... ORPHA:99812
Frontonasal Dysplasia 2
Depressed nasal ridge, Depressed nasal bridge, Wide nasal bridge, Broad columella, Bifid nasal tip OMIM:613451
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Short nose ORPHA:163961
Waardenburg Syndrome
Underdeveloped nasal alae, Abnormal vagina morphology, Myelomeningocele, Prominent nasal bridge, ... ORPHA:3440
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Wide nasal bridge OMIM:309620
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Wide nasal bridge, Anteverted nares, Cryptorchidism, Abnormal nasal morph... ORPHA:404440
Fibrochondrogenesis 2
Anteverted nares, Short nose OMIM:614524
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Arthrogryposis, Distal, Type 2A
Underdeveloped nasal alae, Short nose, Wide nasal bridge, Cryptorchidism, Spina bifida occulta OMIM:193700
Stickler Syndrome Type 1
Short nose ORPHA:90653
Bartsocas-Papas Syndrome
Short nose, Underdeveloped nasal alae, Ambiguous genitalia, Hypoplastic male external genitalia ORPHA:1234
Leukodystrophy, Hypomyelinating, 10
Bulbous nose, Anteverted nares, Short nose OMIM:616420
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Wide nasal bridge, Diabetes insipidus OMIM:611087
Macrocephaly/Autism Syndrome
Short nose, Depressed nasal bridge OMIM:605309
Meier-Gorlin Syndrome 6
Hypoplastic labia majora, Underdeveloped nasal alae, Depressed nasal ridge, Depressed nasal bridg... OMIM:616835
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Short nose, Wide nasal bridge, Micropenis, Anteverted nares OMIM:616897
Alkuraya-Kucinskas Syndrome
Anteverted nares, Micropenis, Short nose, Depressed nasal bridge OMIM:617822
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Anteverted nares, Short nose, Underdeveloped nasal alae ORPHA:2031
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Small scrotum, Wide nasal bridge, Cryptorchidism ORPHA:1970
Roifman-Chitayat Syndrome
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia OMIM:613328
Intellectual Disability-Strabismus Syndrome
Hypospadias, Prominent nose, Depressed nasal bridge, Decreased serum insulin-like growth factor 1... ORPHA:363528
Okur-Chung Neurodevelopmental Syndrome
Anteverted nares, Wide nasal bridge OMIM:617062
Lowry-Maclean Syndrome
Hypospadias, Convex nasal ridge, Short nose, Bilateral cryptorchidism, Choanal atresia, Short nas... ORPHA:2409
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Anteverted nares, Wide nasal bridge ORPHA:50812
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Narrow nose, Long nose, Short nose, Cryptorchidism OMIM:617602
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Congenital Disorder Of Glycosylation, Type 2V
Underdeveloped nasal alae, Wide nasal bridge, Low hanging columella, Bulbous nose, Hydrocele testis OMIM:619493
Even-Plus Syndrome
Depressed nasal ridge, Short nose, Bifid nasal tip OMIM:616854
Odontochondrodysplasia
Short nose, Depressed nasal bridge ORPHA:166272
Bainbridge-Ropers Syndrome
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Short nose, Short columella, ... OMIM:615485
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Depressed nasal bridge, Prominent nasal bridge, Wide nasal bridge, Anteverted nares,... OMIM:300260
Axenfeld-Rieger Syndrome
Hypospadias, Abnormality of the hypothalamus-pituitary axis, Wide nasal bridge, Depressed nasal b... ORPHA:782
Temple-Baraitser Syndrome
Depressed nasal bridge, Wide nose, Wide nasal bridge, Anteverted nares, Thick nasal alae ORPHA:420561
Flat Face-Microstomia-Ear Anomaly Syndrome
Underdeveloped nasal alae, Long nose, Small scrotum, Wide nasal bridge, Cryptorchidism ORPHA:1968
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Micropenis, Wide nasal bridge OMIM:615966
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft ORPHA:1236
Tetrasomy 18P
Short nose ORPHA:3307
Smith-Magenis Syndrome
Depressed nasal bridge, Short nose, Wide nasal bridge, Hypothyroidism, Anteverted nares, Precocio... ORPHA:819
Toluene Embryopathy
Cryptorchidism, Short nose ORPHA:1920
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Depressed nasal bridge, Wide nasal bridge OMIM:617102
Peroxisome Biogenesis Disorder 2B
Anteverted nares, Adrenal insufficiency, Wide nasal bridge OMIM:202370
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Depressed nasal bridge, Short nose, Micropenis, Anteverted nares, Cryptorchidism, Sh... OMIM:301040
Craniometaphyseal Dysplasia, Autosomal Recessive
Abnormal nasopharynx morphology, Nasal congestion, Bony paranasal bossing, Wide nasal bridge OMIM:218400
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hypoplastic nipples, Wide nasal bridge, Depressed nasal bridge OMIM:618505
Trisomy 12P
Short nose, Wide nasal bridge, Supernumerary nipple ORPHA:1699
Otopalatodigital Syndrome Type 1
Depressed nasal bridge, Wide nasal bridge ORPHA:90650
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Wide nasal bridge, Long nose, Prominent nasal bridge, Hydrocele testis OMIM:137940
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Anteverted nares, Spina bifida occulta OMIM:617877
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Wide nasal bridge ORPHA:89844
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Anteverted nares, Cryptorchidism, Short nose, Depressed nasal bridge OMIM:602613
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Wide nasal bridge, Cholelithiasis, Abnormality of the male genitalia OMIM:614886
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Wide nasal bridge, Low hanging columella, Broad columella, Narrow nasal bridge, Antev... OMIM:619383
Dislocation Of The Hip-Dysmorphism Syndrome
Anteverted nares, Depressed nasal ridge, Wide nasal bridge ORPHA:2412
Sweeney-Cox Syndrome
Underdeveloped nasal alae, Short columella, Wide nasal bridge, Bilateral cryptorchidism, Choanal ... OMIM:617746
Spinocerebellar Ataxia 47
Wide nasal bridge OMIM:617931
Craniofacial Microsomia
Ventricular septal defect, Patent ductus arteriosus, Branchial anomaly, Hydrocephalus, Tetralogy ... OMIM:164210
Oculocerebrodental Syndrome
Thick nasal alae, Depressed nasal bridge, Wide nasal bridge, Broad columella ORPHA:557003
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Prominent nose, Wide nasal bridge OMIM:606220
Congenital Disorder Of Glycosylation, Type Il
Short nose, Depressed nasal bridge OMIM:608776
Cardiospondylocarpofacial Syndrome
Anteverted nares, Decreased testicular size, Wide nasal bridge OMIM:157800
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Hypospadias, Short nose, Wide nasal bridge, Micropenis, Cryptorchidism, Anteverted nares, Male ps... ORPHA:2282
Achondrogenesis, Type Ia
Anteverted nares, Short nose, Depressed nasal bridge, Stillbirth OMIM:200600
Tetrasomy 12P
Anteverted nares, Short nose ORPHA:884
Endocrine-Cerebroosteodysplasia
Hypospadias, Sex reversal, Wide nasal bridge, Micropenis, Ambiguous genitalia, Adrenal hypoplasia... OMIM:612651
Chromosome 9P Deletion Syndrome
Hypospadias, Depressed nasal bridge, Wide nasal bridge, Micropenis, Anteverted nares, Choanal atr... OMIM:158170
Pilodental Dysplasia With Refractive Errors
Wide nasal bridge OMIM:262020
Focal Facial Dermal Dysplasia Type Iii
Depressed nasal ridge, Wide nasal bridge ORPHA:1807
16P12.1P12.3 Triplication Syndrome
Bulbous nose, Bilateral cryptorchidism, Short nose, Decreased response to growth hormone stimulat... ORPHA:485405
Distal Trisomy 5Q
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Short nose, Prominent nasal bridge, Cryptorch... ORPHA:96097
3C Syndrome
Hypospadias, Depressed nasal bridge, Short nose, Wide nasal bridge, Adrenal hypoplasia, Hypoplasi... ORPHA:7
Joubert Syndrome 3
Anteverted nares, Wide nasal bridge OMIM:608629
Zechi-Ceide Syndrome
Wide nose, Wide nasal bridge ORPHA:217017
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Koolen-De Vries Syndrome
Hypospadias, Underdeveloped nasal alae, Thick nasal alae, Prominent nasal bridge, Wide nasal brid... ORPHA:96169
Suleiman-El-Hattab Syndrome
Cryptorchidism, Wide nasal bridge OMIM:618950
Oligomeganephronia
Branchial cyst, Hypertension, Secundum atrial septal defect ORPHA:2260
Distal Monosomy 9P
Hypospadias, Hypoplastic labia majora, Short nose, Wide nasal bridge ORPHA:1642
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Wide nasal bridge, Cryptorchidism, Prominent nasal bridge OMIM:617452
Smith-Magenis Syndrome
Wide nasal bridge, Abnormality of the thyroid gland OMIM:182290
Trisomy 20P
Hypospadias, Macroorchidism, Short nose, Spina bifida, Anteverted nares, Cryptorchidism, Umbilica... ORPHA:261318
Meckel Syndrome 12
Anteverted nares, Vaginal atresia, Wide nasal bridge OMIM:616258
8P23.1 Microdeletion Syndrome
Hypospadias, Short nose, Wide nasal bridge, Prominent nasal bridge, Cryptorchidism ORPHA:251071
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Short stature, Gr... ORPHA:261330
C Syndrome
Short nose, Wide nasal bridge, Clitoral hypertrophy, Anteverted nares, Cryptorchidism OMIM:211750
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Developmental And Epileptic Encephalopathy 89
Hypoplastic labia minora, Hypoplastic labia majora, Depressed nasal bridge, Neonatal death, Wide ... OMIM:619124
Gomez-Lopez-Hernandez Syndrome