| Diseases |
Alias |
|
| Velocardiofacial Syndrome |
|
Shprintzen Syndrome
|
VCFS
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Vcf Syndrome
|
|
Shprintzen Vcf Syndrome
|
Vcf-Velocardiofacial Syndrome
|
|
Velo-Cardio-Facial Syndrome
|
Digeorge Syndrome
|
|
22q11 Deletion Syndrome
|
Conotruncal Anomaly Face Syndrome
|
|
|
| Digeorge Syndrome |
|
Chromosome 22q11.2 Deletion Syndrome
|
DGS
|
|
Hypoplasia Of Thymus And Parathyroids
|
Third And Fourth Pharyngeal Pouch Syndrome
|
|
22q11.2 Deletion Syndrome
|
Digeorge Sequence
|
|
Digeorge'S Syndrome
|
Pharyngeal Pouch Syndrome
|
|
Di-George Syndrome
|
Shprintzen Syndrome
|
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
|
Autosomal Dominant Opitz G/Bbb Syndrome
|
|
Catch22
|
Cayler Cardiofacial Syndrome
|
|
Conotruncal Anomaly Face Syndrome
|
Digeorge Syndrome
|
|
Sedlackova Syndrome
|
Shprintzen Syndrome
|
|
Velocardiofacial Syndrome
|
22q11.2 Distal Deletion Syndrome
|
|
Distal 22q11.2 Microdeletion Syndrome
|
22q11.2ds
|
|
Vcfs
|
Velo-Cardio-Facial Syndrome
|
|
Distal Chromosome 22q11.2 Deletion Syndrome
|
Chromosome 22q11.2 Deletion Syndrome Distal
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Deletion 22q11.2 Syndrome
|
|
22q11ds
|
Catch 22
|
|
Digeorge Sequence
|
Microdeletion 22q11.2
|
|
Monosomy 22q11
|
Takao Syndrome
|
|
Distal Del(22)(Q11.2)
|
Distal Monosomy 22q11.2
|
|
Catch 22 Syndrome
|
Chromosome Deletion Syndrome 22q11.2, Distal
|
|
|
| Conotruncal Heart Malformations |
|
Persistent Truncus Arteriosus
|
Conotruncal Anomaly Face Syndrome
|
|
Truncus Arteriosus
|
Common Arterial Trunk
|
|
CTHM
|
Conotruncal Heart Malformations, Variable
|
|
Tac
|
Truncus Arteriosus Communis
|
|
Conotruncal Cardiac Defects
|
Common Aorticopulmonary Trunk
|
|
Cafs
|
Conotruncal Heart Defects
|
|
Cthd
|
Dorv
|
|
Double-Outlet Right Ventricle
|
Pta
|
|
Heart Malformations, Conotruncal
|
Common Truncus
|
|
Common Truncus Arteriosus
|
Persistent Truncus Arteriosus Or Communis
|
|
Truncus Communis
|
Common Aortico-Pulmonary Trunk
|
|
Truncus Arteriosus With Aortic Dominance
|
Truncus Arteriosus With No Aortic Obstruction
|
|
Truncus Arteriosus With Pulmonary Dominance And Interrupted Aortic Arch
|
Truncus Arteriosus With Interrupted Aortic Arch
|
|
Common Arterial Trunk With Interrupted Aortic Arch
|
Van Praagh Truncus Arteriosus Type A4
|
|
|
| Tetralogy Of Fallot |
|
TOF
|
Fallot Tetralogy
|
|
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
|
Tetrad Of Fallot
|
|
Fallot Tetrad
|
Fallot Disease
|
|
Fallot Complex
|
Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
|
|
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
|
Interventricular Septal Defect, In Tetralogy Of Fallot
|
|
Ventricular Septal Defect With Obstructed Right Ventricular Outflow
|
Tof - [Tetralogy Of Fallot]
|
|
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
|
Pulmonary Atresia, Ventricular Septal Defect And Mapcas
|
|
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
|
|
|
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Nezelof Syndrome
|
T-Lymphocyte Deficiency
|
|
TIDTA
|
Immune Defect Due To Absence Of Thymus
|
|
Thymic Aplasia
|
Nezelof'S Syndrome
|
|
Thymic Dysplasia With Normal Immunoglobulins
|
Thymic Aplasia Syndrome
|
|
T-Lymphocyte Immunodeficiency
|
|
|
| Kbg Syndrome |
|
KBGS
|
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
|
|
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
|
|
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome
|
Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
|
|
|
| Chromosome 22q11.2 Duplication Syndrome |
|
Chromosome 22q11.2 Microduplication Syndrome
|
22q11.2 Microduplication Syndrome
|
|
22q11.2 Duplication Syndrome
|
Duplication 22q11.2
|
|
Trisomy 22q11.2
|
22q11.2 Duplication
|
|
Dup(22)(Q11)
|
|
|
| Holt-Oram Syndrome |
|
HOS
|
Atriodigital Dysplasia
|
|
Heart-Hand Syndrome
|
Atrio-Digital Syndrome
|
|
Cardiac-Limb Syndrome
|
Heart-Hand Syndrome, Type 1
|
|
Ventriculo-Radial Syndrome
|
Hos1
|
|
Heart Hand Syndrome
|
Atrio Digital Syndrome
|
|
Hos 1
|
Atriodigital Dysplasia Type 1
|
|
Heart-Hand Syndrome Type 1
|
Holt Oram Syndrome
|
|
|
| Ulnar-Mammary Syndrome |
|
Schinzel Syndrome
|
UMS
|
|
Pallister Ulnar-Mammary Syndrome
|
Ulnar-Mammary Syndrome Of Pallister
|
|
|
| Double Outlet Right Ventricle |
|
Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
|
Taussig-Bing Syndrome
|
|
Dextrotransposition Of Aorta
|
Taussig-Bing Syndrome Or Defect
|
|
Dorv
|
Dorv With Subpulmonary Vsd
|
|
Dorv-Tga
|
Double Outlet Right Ventricle With Transposition Of The Great Arteries
|
|
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type
|
Taussig-Bing Heart
|
|
Taussig-Bing Malformation
|
Taussig-Bing Complex
|
|
Taussig-Bing Defect
|
Taussig-Bing
|
|
Double Outlet Right Ventricle With Remote Ventricular Septal Defect
|
Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
|
|
Double Outlet Right Ventricle With Non-Committed Interventricular Communication
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
|
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
|
|
|
| Hypoparathyroidism |
|
Hypoparathyroidism, Idiopathic
|
Parathyroid, Underactivity Of
|
|
Syndrome With Hypoparathyroidism
|
Deficiency Of Parathyroid Hormone
|
|
Parathyroid Gland Insufficiency
|
Parathyroid Insufficiency
|
|
Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
|
|
|
| Chromosomal Deletion Syndrome |
|
|
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
VETD
|
Heterozygotes For Tbx2 Variants
|
|
|
| Thymic Dysplasia |
|
|
| Heart Septal Defect |
|
Septal Defect
|
Heart Septal Defects
|
|
Cardiac Septal Defects
|
Congenital Septal Defect Of Heart
|
|
|
| Heart Disease |
|
Heart Failure
|
Congenital Heart Disease
|
|
Heart Diseases
|
Congenital Heart Defects
|
|
Congenital Heart Defect
|
Heart Malformation
|
|
Congenital Anomaly Of Heart
|
Heart Defect
|
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
|
Heart Defects
|
Heart Disease, Congenital
|
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
| Tricuspid Atresia |
|
Congenital Agenesis Of The Tricuspid Valve
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Atrioventricular Septal Defect |
|
AVSD
|
Atrioventricular Canal Defect
|
|
Avcd
|
Endocardial Cushion Defect
|
|
Ecd
|
Avc Defect
|
|
Atrioventricular Septal Defect, Susceptibility To, 1
|
Atrioventricular Septal Defect 1
|
|
Endocardial Cushion Defects
|
Septal Defect, Atrioventricular
|
|
Atrioventricular Defect With Atrial Shunting Only
|
Incomplete Atrioventricular Septal Defect With Isolated Atrial Component
|
|
Incomplete Atrioventricular Canal Defect With Isolated Atrial Component
|
Primum Atrial Septal Defect
|
|
Partial Atrioventricular Canal Defect With Isolated Atrial Component
|
Partial Atrioventricular Septal Defect, Ostium Primum Type
|
|
Ostium Primum Atrial Septal Defect
|
Partial Atrioventricular Canal Defect
|
|
Partial Atrioventricular Septal Defect
|
Atrial Septum Primum Defect
|
|
Atrioventricular Canal Defect With Isolated Ventricular Component
|
Atrioventricular Canal Defect With Isolated Ventricular Communication
|
|
Atrioventricular Septal Defect With Isolated Ventricular Component
|
Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting
|
|
Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve
|
Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves
|
|
Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect
|
Intermediate Atrioventricular Canal Defect
|
|
Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices
|
Intermediate Atrioventricular Septal Defect
|
|
Transitional Atrioventricular Canal Defect
|
Transitional Atrioventricular Septal Defect
|
|
Complete Atrioventricular Canal With Atrial And Ventricular Components
|
Complete Atrioventricular Canal Defect
|
|
Complete Atrioventricular Septal Defect
|
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia
|
ANKG
|
|
'Tongue-Tie'
|
Tongue-Tie
|
|
Tongue Tie
|
Aberrant Insertion Of Labial Frenulum
|
|
Aberrant Insertion Of Frenum Of Tongue
|
Short Frenulum Linguae
|
|
Short Frenulum Of Tongue
|
|
|
| Atrial Heart Septal Defect |
|
Atrial Septal Defect
|
Atrial Septal Defects
|
|
Atrioseptal Defect
|
Auricular Septal Defect
|
|
Congenital Atrial Septal Defect
|
Interatrial Septal Defect
|
|
Interauricular Septal Defect
|
Heart Septal Defects, Atrial
|
|
Septal Defect, Atrial
|
|
|
| Patent Ductus Arteriosus 1 |
|
Patent Ductus Arteriosus
|
PDA1
|
|
Pda
|
Ductus Arteriosus, Patent
|
|
Patent Ductus Arteriosus, Susceptibility To
|
Patent Ductus Botalli
|
|
Patency Of The Ductus Arteriosus
|
Patent Ductus Arteriosus Familial
|
|
Ductus Arteriosus Patent
|
Patent Ductus Arteriosus - Persisting Type
|
|
|
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Autosomal Recessive Congenital Ichthyosis 9
|
ARCI9
|
|
Ichthyosis, Congenital, Autosomal Recessive, Type 9
|
|
|
| Craniofacial Microsomia |
|
Goldenhar Syndrome
|
Hemifacial Microsomia
|
|
Oculoauriculovertebral Spectrum
|
Oavs
|
|
Oculo-Auriculo-Vertebral Spectrum
|
CFM
|
|
Oav Dysplasia
|
Facioauriculovertebral Sequence
|
|
Fav Sequence
|
First And Second Branchial Arch Syndrome
|
|
Otomandibular Dysostosis
|
Hfm
|
|
Oculoauriculovertebral Dysplasia
|
Facio-Auriculo-Vertebral Spectrum
|
|
Facioauriculovertebral Dysplasia
|
Oculo-Auriculo-Vertebral Dysplasia
|
|
First Arch Syndrome
|
Oav Dysplasia
|
|
Goldenhar Disease
|
Expanded Spectrum Hemifacial Microsomia
|
|
Expanded Spectrum Of Hemifacial Microsomia
|
Oculoauriculovertebral Syndrome
|
|
Oavd
|
Asymmetric Hypoplasia Of Facial Structures
|
|
Auriculobranchiogenic Dysplasia
|
Fav
|
|
First And Second Pharyngeal Arch Syndromes
|
Goldenhar-Gorlin Syndrome
|
|
Lateral Facial Dysplasia
|
Oav Complex
|
|
Oral-Mandibular-Auricular Syndrome
|
Unilateral Intrauterine Facial Necrosis
|
|
Unilateral Mandibulofacial Dysostosis
|
Oav Spectrum
|
|
Oculoauricular Vertebral Dysplasia
|
Microsomia, Hemifacial
|
|
Goldenhar Syndrome With Ipsilateral Radial Defect
|
|
|
| Charge Syndrome |
|
Charge Association
|
Hall-Hittner Syndrome
|
|
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
|
Hhs
|
|
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
|
Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
|
CHARGES
|
|
|
| Patau Syndrome |
|
Trisomy 13
|
Complete Trisomy 13 Syndrome
|
|
Trisomy 13 Syndrome
|
D1 Trisomy
|
|
Patau'S Syndrome
|
Complete Trisomy 13
|
|
Chromosome 13, Trisomy 13 Complete
|
D Trisomy Syndrome
|
|
Bartholin-Patau Syndrome
|
Chromosome 13 Duplication
|
|
D1 Trisomy Syndrome
|
D>1< Trisomy Syndrome
|
|
Patau
|
Chromosome 13 Trisomy
|
|
Abnormal Autosomes 13
|
|
|
| Ventricular Septal Defect |
|
Ventricular Septal Defects
|
Interventricular Septal Defect
|
|
Heart Septal Defects, Ventricular
|
Ventricular Septal Abnormality
|
|
Interventricular Septum Defect
|
Ventricular Septum Defect
|
|
Vsd - [Ventricular Septum Defect]
|
Congenital Ventricular Septal Defect
|
|
Single Ventricular Septal Defect
|
|
|
| Orofacial Cleft |
|
|
| Scoliosis |
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Potocki-Lupski Syndrome |
|
PTLS
|
Chromosome 17p11.2 Duplication Syndrome
|
|
17p11.2 Microduplication Syndrome
|
Duplication 17p11.2 Syndrome
|
|
Trisomy 17p11.2
|
Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
|
|
17p11.2 Duplication Syndrome
|
Dup(17)(P11.2p11.2)
|
|
Pls
|
Chromosome 17, Trisomy 17p11 2
|
|
|
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
VODI
|
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
|
|
Hepatic Veno-Occlusive Disease With Immunodeficiency
|
Familial Veno-Occlusive Disease With Immunodeficiency
|
|
Veno-Occlusive Disease And Immunodeficiency Syndrome
|
Vodi Syndrome
|
|
Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome
|
|
|
| Developmental And Epileptic Encephalopathy 66 |
|
DEE66
|
Epileptic Encephalopathy, Early Infantile, 66
|
|
Eiee66
|
Developmental And Epileptic Encephalopathy, 66
|
|
Early Infantile Epileptic Encephalopathy 66
|
Encephalopathy, Epileptic, Early Infantile, Type 66
|
|
|
| Hypoplastic Left Heart Syndrome |
|
Hlhs
|
Heart, Hypoplastic Left, Syndrome
|
|
Hypoplasia Of The Left Heart
|
Left Heart Hypoplasia Syndrome
|
|
Hlhs - [Hypoplastic Left Heart Syndrome]
|
Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
|
|
Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome
|
Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle
|
|
Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia
|
Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
|
|
Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
|
|
|
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition Of The Great Arteries
|
DTGA1
|
|
Dextro-Looped Transposition Of The Great Arteries
|
DTGA
|
|
Congenitally Uncorrected Transposition Of The Great Arteries
|
Congenitally Uncorrected Transposition Of The Great Vessels
|
|
D-Tga
|
Isolated Ventriculoarterial Discordance
|
|
Ventriculoarterial Discordance With Atrioventricular Concordance
|
Dextro-Transposition Of The Great Arteries
|
|
Transposition Of The Great Vessels
|
Great Vessels Transposition
|
|
Transposition Of The Great Arteries, Dextro-Looped 1
|
Arteries, Great, Transposition, Dextro-Looped
|
|
Ventriculoarterial Discordance, Isolated
|
D-Transposition Of The Great Arteries
|
|
Complete Transposition
|
Tga
|
|
Tgv
|
Transposition Of Great Vessels
|
|
Transposition Of The Great Arteries Dextro-Looped 1
|
Dextro-Looped Transposition Of The Great Arteries 1
|
|
Discordant Ventriculoarterial Connection
|
Complete Transposition Of Great Vessels
|
|
Great Vessels Complete Transposition
|
Total Great Vessel Transposition
|
|
Transposition Of Great Arteries
|
Complete Tga - [Transposition Of The Great Arteries]
|
|
Tga - [Transposition Of Great Arteries]
|
Tgv - [Transposition Of Great Vessels]
|
|
Transposition Of Great Vessels Nos
|
Transposed Vessels Nos
|
|
|
| Kabuki Syndrome 1 |
|
Kabuki Syndrome
|
Niikawa-Kuroki Syndrome
|
|
Kabuki Make-Up Syndrome
|
Kms
|
|
KABUK1
|
Kabuki Make Up Syndrome
|
|
Nks
|
Kabuki Makeup Syndrome
|
|
Kabuki Syndrome, Type 1
|
|
|
| Aortic Valve Disease 1 |
|
Aortic Valve Disease
|
Bicuspid Aortic Valve
|
|
Aortic Valve Disorder
|
AOVD1
|
|
Bav
|
Bicuspid Aortic Valve Disease
|
|
Familial Bicuspid Aortic Valve
|
Aortic Valve Calcification
|
|
Aovd
|
Aortic Valve, Bicuspid
|
|
Aortic Valve, Calcification Of
|
Aortic Stenosis, Calcific
|
|
Familial Bav
|
Calcific Aortic Stenosis
|
|
Calcification Of Aortic Valve
|
Abnormality Of The Aortic Valve
|
|
Aortic Valve Disease, Type 1
|
Aortic Valve Disease 2
|
|
Bicommissural Aortic Valve
|
|
|
| Patent Foramen Ovale |
|
Atrial Septal Defect Within Oval Fossa
|
Foramen Ovale Patent
|
|
Ostium Secundum Atrial Septal Defect
|
Atrial Septal Defect, Ostium Secundum Type
|
|
Foramen Ovale, Patent
|
Defect, Patent Or Persistent, Ostium Secundum
|
|
Ostium Secundum Type Atrial Septal Defect
|
Persistent Ostium Secundum
|
|
Asd Ostium Secundum Type
|
Ostium Secundum Asd
|
|
Osasd
|
Asd, Ostium Secundum Type
|
|
Pfo - [Patent Foramen Ovale]
|
Open Foramen Ovale
|
|
Open Oval Foramen
|
Persistent Foramen Ovale
|
|
Secundum Atrial Septal Defect
|
|
|
| Physical Disorder |
|
|
| Williams-Beuren Syndrome |
|
Williams Syndrome
|
WBS
|
|
Wms
|
Deletion 7q11.23
|
|
Monosomy 7q11.23
|
Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
|
Fanconi Schlesinger Syndrome
|
Beuren Syndrome
|
|
Elfin Facies Syndrome
|
Elfin Facies With Hypercalcemia
|
|
Hypercalcemia-Supravalvar Aortic Stenosis
|
Ws
|
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
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