Congenital heart - GTR - NCBI

Congenital heart - GTR - NCBI

Cardiofaciocutaneous syndrome 1 Tests Gene GeneReviews	BRAF-Related Cardiofaciocutaneous Syndrome Cardio-facio-cutaneous syndrome Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
Select item 374477	Spondyloepiphyseal dysplasia with congenital joint dislocations Tests Gene GeneReviews	CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Humerospinal Dysostosis Kozlowski Celermajer Tink syndrome Spondyloepiphyseal Dysplasia, Omani Type
Select item 184924	McKusick Kaufman syndrome Tests Gene GeneReviews	Hydrometrocolpos syndrome Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
Select item 349005	Left ventricular noncompaction 1 Tests Gene GeneReviews	LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS
Select item 1638960	Noonan syndrome 1 Tests Genes GeneReviews	Female pseudo-Turner syndrome PTPN11-Related Noonan Syndrome Turner Syndrome, Male Turner phenotype with normal karyotype
Select item 108454	Costello syndrome Tests Gene GeneReviews	FCS syndrome Faciocutaneoskeletal syndrome
Select item 65085	Shprintzen syndrome Tests Genes GeneReviews	22q11.2 Deletion Syndrome CHROMOSOME 22q11.2 DELETION SYNDROME Shprintzen VCF syndrome Takao vcf syndrome VCF SYNDROME VCF syndome Velocardiofacial syndrome
Select item 480034	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Tests Genes GeneReviews	LARSEN SYNDROME, AUTOSOMAL RECESSIVE Larsen-like syndrome, B3GAT3 type MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
Select item 4297	DiGeorge sequence Tests Gene GeneReviews	22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) Catch22 Chromosome 22q11.2 deletion syndrome DiGeorge Syndrome DiGeorge anomaly Familial third and fourth pharyngeal pouch syndrome Hypoplasia of thymus and parathyroid Pharyngeal pouch syndrome Sedlackova syndrome Third and fourth pharyngeal pouch syndrome Thymic aplasia syndrome Velofacial hypoplasia
Select item 1639327	Rubinstein-Taybi syndrome Tests Genes GeneReviews	Broad thumb-hallux syndrome Broad thumbs and great toes, characteristic facies, and mental retardation CREBBP-Related Rubinstein-Taybi Syndrome RUBINSTEIN-TAYBI SYNDROME 1 RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE Rubinstein syndrome
Select item 162917	Simpson-Golabi-Behmel syndrome Tests Genes GeneReviews	Bulldog syndrome Dysplasia gigantism syndrome, X-linked GPC3-Related Simpson-Golabi-Behmel Syndrome Type 1 GPC4-Related Simpson-Golabi-Behmel Syndrome Type 1 Golabi-Rosen syndrome Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome, type 1
Select item 893727	Kabuki syndrome 1 Tests Genes GeneReviews	KMT2D-Related Kabuki Syndrome Kabuki Syndrome
Select item 120524	Holt-Oram syndrome Tests Gene GeneReviews	Atrio digital syndrome Atriodigital dysplasia Cardiac-limb syndrome HOS 1 Heart-hand syndrome Heart-hand syndrome, type 1 TBX5-Related Holt-Oram Syndrome Ventriculo-radial syndrome
Select item 341067	Mowat-Wilson syndrome Tests Gene GeneReviews	Hirschsprung disease mental retardation syndrome Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease
Select item 64221	Saethre-Chotzen syndrome Tests Genes GeneReviews	ACS 3 ACS III Acrocephalo-syndactyly, type 3 Acrocephaly, skull asymmetry, and mild syndactyly Chotzen syndrome Saethre-Chotzen Syndrome, FGFR2-Related
Select item 408255	4p partial monosomy syndrome Tests Genes GeneReviews	CHROMOSOME 4p16.3 DELETION SYNDROME Chromosome 4p syndrome Mental retardation, unusual facies, and intrauterine growth retardation Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation Pitt syndrome Wolf syndrome Wolf-Hirschhorn Syndrome
Select item 18073	Noonan syndrome Tests Genes GeneReviews	MAP2K1-Related Noonan Syndrome Noonan's syndrome Pseudo-Turner syndrome
Select item 856010	Neural tube defect Tests Genes GeneReviews	Abnormality of neural tube closure NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO Neural tube defects VANGL1-Related Neural Tube Defect
Select item 424842	Opitz-Frias syndrome Tests Gene GeneReviews	HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS HYPERTELORISM-HYPOSPADIAS SYNDROME OPITZ BBBG SYNDROME, TYPE I OPITZ GBBB SYNDROME, TYPE I OPITZ SYNDROME OPITZ SYNDROME, X-LINKED OPITZ-G SYNDROME, TYPE I Opitz G/BBB Syndrome, X-Linked TELECANTHUS-HYPOSPADIAS SYNDROME
Select item 339908	Noonan syndrome 4 Tests Gene GeneReviews	NL/MGCLS NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS SOS1-Related Noonan Syndrome