|
|
10p Deletion Syndrome (partial)
16p11.2 Deletion Syndrome
22q11 Deletion Syndrome +
ablepharon macrostomia syndrome
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Al Gazali Aziz Salem Syndrome
alpha thalassemia-intellectual disability syndrome type 1
Ankyloblepharon Filiforme Adnatum
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
anterior segment dysgenesis +
Aortico-Ventricular Tunnel
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
arrhythmogenic right ventricular cardiomyopathy +
Asymmetric Short Stature Syndrome
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects
Axenfeld-Rieger syndrome +
Axenfeld-Rieger syndrome type 2
Bagatelle Cassidy syndrome
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
Bilateral Amastia with Ureteral Triplication and Dysmorphism
Brachycephalofrontonasal Dysplasia
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Branchial Arch Syndrome X-Linked
Brittle Cornea Syndrome +
Camptodactyly Syndrome Guadalajara Type 2
Camptodactyly Syndrome Guadalajara Type 3
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cardiac-Urogenital Syndrome
Cardioacrofacial Dysplasia +
Cardioauditory Syndrome of Sanchez Cascos
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
Chemke Oliver Mallek Syndrome
chromosome 10q23 deletion syndrome
Chromosome 11p Deletion Syndrome
chromosome 13q14 deletion syndrome
Chromosome 13q33-q34 Deletion Syndrome
chromosome 14q11-q22 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
Chromosome 15q14 Deletion Syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome
chromosome 16p12.1 deletion syndrome
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 16q22 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
chromosome 1q41-q42 deletion syndrome +
chromosome 2p12-p11.2 deletion syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 2q37 deletion syndrome
chromosome 3q13.31 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 4q21 deletion syndrome
chromosome 5q deletion syndrome
chromosome 5q12 deletion syndrome
chromosome 6pter-p24 deletion syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. (DO)
chromosome 6q11-q14 deletion syndrome
chromosome 6q24-q25 deletion syndrome
chromosome 8q21.11 deletion syndrome
chromosome 9p deletion syndrome
chromosome Xp21 deletion syndrome
Chromosome Xq21 Deletion Syndrome
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
cleft palate, cardiac defects, and intellectual disabillity
Cole-Carpenter syndrome +
Colobomatous Macrophthalmia with Microcornea
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
Conductive Hearing Loss +
Cone-Rod Dystrophy and Hearing Loss +
Congenital Cataracts, Hearing Loss, and Neurodegeneration
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital Heart Defects, Multiple Types +
Congenital Heart Defects, X-Linked +
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +
Conotruncal Cardiac Defects
Coronary Vessel Anomalies +
Cranioacrofacial Syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofaciofrontodigital Syndrome
Craniosynostosis with Ocular Abnormalities and Hallucal Defects
De Hauwere Leroy Adriaenssens syndrome
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness-Craniofacial Syndrome
developmental cardiac valvular defect
dextro-looped transposition of the great arteries +
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities
distal 10q deletion syndrome
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
Dwarfism Stiff Joint Ocular Abnormalities
Ectrodactyly Cardiopathy Dysmorphism
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Ehlers-Danlos syndrome kyphoscoliotic type 2
Ellis Yale Winter Syndrome
Epilepsy, Hearing Loss, and Mental Retardation Syndrome
exudative vitreoretinopathy +
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Familial Anomalous Origin of Right Pulmonary Artery
Foveal Hypoplasia and Anterior Segment Dysgenesis
Fronto-Facio-Nasal Dysplasia
Gay Feinmesser Cohen Syndrome
Genito Palato Cardiac Syndrome
Gillessen-Kaesbach-Nishimura Dysplasia
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Hearing Loss, Mixed Conductive-Sensorineural +
Heart Defects Limb Shortening
Heart-Hand Syndrome, Slovenian Type
Heart-Hand Syndrome, Spanish Type
hereditary nonpolyposis colorectal cancer type 8
High-Frequency Hearing Loss +
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
Homozygous 11p15-p14 Deletion Syndrome
Hyperphosphatasia with Mental Retardation Syndrome 1
Hypertelorism and Tetralogy of Fallot
hypertelorism, microtia, facial clefting syndrome
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
hypoparathyroidism-deafness-renal disease syndrome
hypoplastic left heart syndrome +
hypoplastic right heart syndrome
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
hypotonia-cystinuria syndrome
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
iridogoniodysgenesis syndrome +
Iris Dysplasia Hypertelorism Deafness
Isolated Noncompaction of the Ventricular Myocardium +
Kasznica Carlson Coppedge Syndrome
Krauss Herman Holmes Syndrome
Larsen-like syndrome B3GAT3 type
Lethal Faciocardiomelic Dysplasia
Marles Greenberg Persaud Syndrome
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
Meacham Winn Culler Syndrome
Mehta Lewis Patton Syndrome
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mexican Cardiomelic Dysplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcornea, Glaucoma, and Absent Frontal Sinuses
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus
Microtia, Hearing Impairment, and Cleft Palate
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miller-Dieker lissencephaly syndrome
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Monosomy 7 Myelodysplasia and Leukemia Syndrome +
Nablus Mask-Like Facial Syndrome
Naguib-Richieri-Costa Syndrome
Nephrotic Syndrome with Ocular Anomalies
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects
Noonan syndrome with multiple lentigines +
oblique facial clefting 1
Oculoauriculofrontonasal Syndrome
Oculocerebrocutaneous Syndrome
oculodentodigital dysplasia +
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Odontochondrodysplasia 2 with Hearing Loss and Diabetes
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
Osteootohepatoenteric Syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
patent ductus arteriosus +
Pena Shokeir Syndrome Type 2
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Persistence of Pupillary Membrane
persistent hyperplastic primary vitreous +
popliteal pterygium syndrome +
posterior amorphous corneal dystrophy
Powell Chandra Saal Syndrome
Prepapillary Vascular Loops
Pseudodiastrophic Dysplasia
Pulmonary Atresia with Intact Ventricular Septum
Reardon Wilson Cavanagh Syndrome
Right Ventricle Hypoplasia
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Sacral Meningocele Conotruncal Heart Defects
Santos Mateus Leal Syndrome
SATB2-associated syndrome
sensorineural hearing loss +
Short Stature, Developmental Delay, and Congenital Heart Defects
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
Simpson-Golabi-Behmel syndrome type 1
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
Structural Heart Defects and Renal Anomalies Syndrome
Subaortic Stenosis, Membranous
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic X-linked intellectual disability Abidi type
Testicular Anomalies with or without Congenital Heart Disease
thrombocytopenia-absent radius syndrome
torsion dystonia with onset in infancy
Unilateral Deafness with Delayed Endolymphatic Hydrops
Unilateral Hearing Loss +
uveal coloboma-cleft lip and palate-intellectual disability
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Ventricular Extrasystoles Perodactyly Robin Sequence
Verloove-Vanhorick Brubakk Syndrome
Williams-Beuren syndrome +
Wolff-Parkinson-White syndrome
X-linked cardiac valvular dysplasia
Y-linked spermatogenic failure 1
|
|
